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How does a breastfeeding mother know that her infant is getting enough milk?

The baby has several wet nappies per day


The baby is gaining weight
The baby appears healthy and content

Write short notes on a successful screening programme.


The following criteria should be satisfied in newborn screening programmes:
The disease should be a significant health problem
The disease should have a latent or asymptomatic phase
There should be a commonly accepted and successful therapy
The natural history of the disease should be understood
The test should be sensitive (few false negatives) and specific (few false positives)
The screening programme should be cost effective
The test sample should be easily obtained
Adequate facilities for diagnosis and therapy should exist
There should be a commitment to careful follow-up
Screening in the neonate heel prick blood sample
The infant needs to be on an adequate milk diet for at least 72 hours before the test
If on antibiotics, the Guthrie reaction (for phenylalanine) may be affected
Bacterial inhibition methods screen for:
- Phenylketonuria
- Galactosaemia
- Homocystinuria
- Maple syrup urine disease
ELISA screens for:
- Congenital hypothyroidism
Early detection of these inborn errors of metabolism can prevent death and mental retardation

Describe the clinical behaviour of a baby suffering from opiate withdrawal.


Signs and symptoms of withdrawal occur in up to 60% to 90% of exposed babies. Onset may be
minutes following birth up to 2 weeks of age although it is usually within 4 days.
Clinical behaviour includes:
- Wakefulness
- Irritability
- Tremulousness, temperature instability
- Hyperactivity, high pitched cry, hypertonia
- Diarrhoea, disorganized suck and feeding problems
- Respiratory distress, rhinorrhoea
- Apnoeic attacks
- Weight gain failure
- Agitation
- Lacrimation

What do you understand by the term bonding?


It is a process of attachment and consists of emotional ties and commitments that characterize the
relationship between each participant in this social event and the infant who becomes the central
figure or centre of attention.
During pregnancy:
i. Initial stage by end of first trimester where the mother identifies growing foetus as an
integral part of herself
ii. Second stage usually occurs with awareness of foetal movement where the mother has a
growing perception of the foetus as a separate individual and develops a sense of
attachment and value towards the baby (choosing a name, buying clothes)
During the neonatal period:
i. In the first week after delivery, human mothers seem to have a routine behaviour which
begins with finger tip touching of extremities and then massaging of the infants trunk
with their palm

What factors predispose to intrauterine growth retardation? (Causes of low birthweight)


Inherited genetic factors
Short maternal height
Multiple pregnancies
Smoking
Maternal disease such as chronic hypertension or renal disease
Alcohol
Drugs
Substance abuse
Malnutrition
Pre-eclampsia
Vascular malformations of placenta
Placental abruption
Uteroplacental insufficiency
Chromosomal abnormalities such as trisomy 13, 18 or 21 and Turners syndrome
Congenital infection, most commonly CMV
Lower socio-economic groups

What advice should be given to parents to decrease the risk of sudden infant death syndrome?
The infant should lie on his or her back while asleep
The infant should live in a smoke-free house
Parents should avoid letting the baby become too hot
If there are signs of an upper respiratory tract infection or if the parents think that their baby
is unwell, medical advice should be sought from a doctor

Write a short note on surfactant [dipalmitoyl phosphatidyl choline (DPPC) + DPPGlycerol].


It is a lipoprotein complex; a phospholipid (90% lipid, 10% protein)
Secretion from type II pneumocytes from approximately 32 weeks gestation is stimulated by
glucocorticoids
It lowers the surface tension of alveolar fluid
It is essential to increase the compliance of the alveoli and lungs and reduce the work of
breathing
Deficiency is associated with the respiratory distress syndrome of the newborn

List causes of prolonged hyperbilirubinaemia (lasting more than 7 days).


Breast milk jaundice
Blood group incompatibility
Hypothyroidism
Pyloric stenosis
Infection, especially UTIs
Cystic fibrosis
Gilberts disease
Write a brief note on infant colic.
Defined as intermittent and unexplained crying during the first 3 months of an infants life
that reaches a point at which the parents attend for medical advice
Typical features include paroxysms of crying, flushing of the face, frowning, drawing up of
the legs and a high pitched scream which suddenly ends in a few minutes
Idiopathic though rapid gastric emptying is thought to play a part
Management includes ensuring that there is no obvious cause for crying such as otitis media
or urinary tract infection (use of pacifier, gentle motion, reduce air entry with feeds)
Reassurance to the parents is essential after demonstrating a thorough physical examination

What is the significance of failure to pass meconium within the first 48 hours of life?
The meconium plug syndrome may be due to Hirschprungs disease. In some cases the infant fails
to open his or her bowels in the first 24 hours and may develop signs of obstruction. These infants
require careful follow up in order to detect those with Hirschprungs disease or cystic fibrosis.

Write short notes on kernicterus.


Kernicterus is when unconjugated bilirubin which is fat soluble passes through the blood-brain
barrier and causes permanent damage with chronic disability. The basal ganglia are especially
affected. Choreoathetoid cerebral palsy, high tone nerve deafness, enamel hypoplasia and mental
handicap may result.
Though it is not known as to what exact levels of unconjugated bilirubin cause kernicterus,
predisposing factors include:
- Acidosis
- Asphyxia
- Prematurity
- Drugs which compete for albumen bilirubin binding sites
Evaluation and diagnosis is based on:
- History and physical examination
- Total bilirubin and the Coombs test
- Haemoglobin, blood count and blood film
Other investigations include an MSU, TFT, hepatic enzymes, a sweat test and scans.

List signs of cardiac failure in the newborn infant.


Feeding problems
Respiratory distress (tachypnoea, subcostal recession, flaring nostrils)
Tachycardia
Hepatomegaly
Basal lung crepitations
Cyanosis
Oedema with unexpected weight gain
Sweating especially associated with feeds
Heart murmurs

Discuss briefly the association between intrapartum asphyxia and cerebral palsy.
Intrapartum asphyxia is said to be one of the causes of the chronic motor disease termed cerebral
palsy. However, increasing use of foetal monitoring and Caesarean sections to prevent and
minimize intrapartum asphyxia have hardly changed the frequency of cerebral palsy. Hence one
cannot state with certainty that cerebral palsy in a given child was due to intrapartum asphyxia.
Permanent motor deficit can be caused by asphyxia but only if that asphyxia was severe and
prolonged. Evidence of such substantial asphyxia will be manifest during labour, delivery and the
neonatal course. 4 questions must be asked before a causal relationship can be stated. These are:
i. Was there evidence of marked and prolonged intrapartum asphyxia?
ii. Did the infant, as a newborn, exhibit signs of moderate or severe hypoxic-ischaemic
encephalopathy during the newborn period with evidence also of asphyxial injury to
other organ systems?
iii. Is the childs neurologic condition one that intrapartum asphyxia could explain?
iv. Has the workup been sufficient to rule out other conditions?
Even when asphyxia is present, pre-existing malformations or neurologic abnormalities may have
contributed to the occurrence of the asphyxia. The point is, presence of asphyxia does not
necessarily imply blame.

List common causes of neonatal sepsis.


Group B Streptococci (vertical and horizontal transmission)
E. coli (vertical and horizontal transmission)
Listeria (vertical transmission)
Staphylococcus aureus (horizontal transmission)
Candida

Outline the management of neonatal hypoglycaemia.


First, rule out sepsis, CNS disease and other biochemical disturbances.
Prevention includes:
- Identification of groups at risk (IUGR, prematurity, delayed feeding, IDM, glycogen storage
disease, birth asphyxia, endocrine deficiencies, hypothermia)
- Close monitoring
- Early oral feeding
Correction includes:
- Oral or intravenous 10% dextrose infusion
- Small intravenous bolus of glucose (2 4 ml of 10% dextrose per kg) for acute symptoms
- Reduction of energy needs (infant is kept warm)
- Identification of the cause
- Checking of insulin levels during hypoglycaemia
- Metabolic screen
- Endocrine investigations
- Treatment of underlying cause
If all else fails, may need hydrocortisone, glucagon or diazoxide (suppresses pancreatic insulin).

What risks are associated with postnatal neonatal transport?


Hypoglycaemia
Hypothermia
Hypoventilation and/or hypoxaemia
Hypotension and/or hypovolaemia
Electrolyte imbalance and/or sepsis

What factors affect the newborns ability to thermoregulate?


Limiting factors include:
- The large body surface to volume ratio contributes to marked radiant heat loss
- Limited insulation by a thin layer of subcutaneous fat contributes to marked radiant heat loss
- There is poor development of shivering thermogenesis for cold environments
Capabilities include:
- Alteration of vasomotor tone
- Behavioural movements like huddling positions
- Sweating to increase evaporative losses in a warm environment
- Non-shivering thermogenesis in brown fat to keep warm in cool environments
A term infant who had been previously asymptomatic is noted by his mother to be
tachypnoeic (in respiratory distress) at age 72 hours. What causes should be considered?
Tachypnoea in a term baby is sepsis until proven otherwise. Other causes to be considered are:
- Pulmonary diseases [transient tachypnoea of the newborn, pneumonia (particularly group B
Streptococci, meconium aspiration syndrome (has a spectrum of presentation), aspiration
pneumonia, pulmonary haemorrhage, pneumothorax]
- Congenital pulmonary lesions (pulmonary hypoplasia, congenital emphysema,
diaphragmatic hernia)
- Airway obstruction (bilateral choanal atresia, thyroid enlargement, congenital laryngeal
stridor, tracheo-oesophageal fistula)
- Others (congenital heart disease, anaemia, polycythaemia, acidosis, persistent foetal
circulation)

What is an umbilical granuloma?


It is the commonest cause of an umbilical discharge and is due to excessive granulation tissue
associated with delayed healing of the stump. It has a pale pink fleshy appearance. If there is a
narrow pedicle, this can be ligatured at its base or otherwise a sparing application of silver nitrate
stick can be used with care to protect the surrounding skin with vaseline.

Describe reactions to grief.


Grief is a definite syndrome which may be accompanied by a broad range of emotional, physical,
cognitive and behavioural reactions or experiences. These include:
- Emotions (sadness, anger, anxiety, guilt)
- Physical sensations (insomnia, lethargy, muscle tension, dizziness, nausea, vomiting)
- Cognitive thoughts (disbelief, confusion, self-blame, preoccupation)
- Behaviours (appetite and sleep changes, dreams, avoidance, crying, absent-mindedness)
It best be summed up by the stages thought of by Elizabeth Kubler Ross:
i. Denial
ii. Anger
iii. Bargaining
iv. Depression
v. Acceptance

List factors that affect perinatal mortality.


Age (lowest mortality rates associated with 20 24 years)
Parity (lowest mortality rate in second pregnancies)
Socio-economic class (worst in unsupported women)
Geography (better health in rural areas)
Medical skill
Obstetric history
Cigarette smoking (associated with higher mortality rates)
Shorter inter-pregnancy intervals (associated with higher mortality rates)
Birthweight

Write short notes on the Moro reflex.


It is a primitive reflex, meaning that it is a reflex that is developed intrauterine. The infant is made
to sit up. One palm is placed under the infants head. The head is then dropped back 2cm onto the
lower palm of that same hand. Normally, abduction and extension of the arms is followed by
adduction and extension of the legs.
What maternal diseases are associated with an increased risk of congenital malformation?
Diabetes (risk of congenital malformation is 3 4 times that of non-diabetics)
Phenylketonuria
Infections (rubella, Toxoplasmosis, CMV, syphilis, varicella zoster, herpes, hepatitis, HIV)

List the causes of small for dates babies.


Wrong dates
Inherited genetic factors
Short maternal height
Multiple pregnancies
Smoking
Maternal disease such as chronic hypertension or renal disease
Alcohol
Drugs
Substance abuse
Malnutrition
Pre-eclampsia
Vascular malformations of placenta
Placental abruption
Uteroplacental insufficiency
Chromosomal abnormalities such as trisomy 13, 18 or 21 and Turners syndrome
Congenital infection, most commonly CMV
Lower socio-economic groups

What is polycythaemia in the newborn infant?


It is defined as a venous haematocrit of 65% or more during the first week of life. As haematocrit
increases, blood viscosity increases. However, other factors may also affect viscosity. It may be
caused by chronic intrauterine hypoxia, excessive transfusion of blood or may present in infants of
diabetic mothers. Clinical features include:
- Neurological (jitteriness, lethargy, cerebral vessel thrombosis)
- Cardiorespiratory (transient tachypnoea of the newborn, persistent foetal circulation)
- Gastrointestinal (necrotizing enterocolitis)
- Renal (diminished function)
- Hypoglycaemia
- Jaundice
Management includes hydration and partial exchange transfusion.

Write short notes on the pathogenesis of intraventricular haemorrhage.


The incidence of IVH is inversely related to birthweight and gestational age. It occurs in 25% of
very low birthweight infants. IVH in premature infants occurs in the floor of the lateral ventricles.
The lesion starts as a haemorrhage into the prominent subependymal germinal matrix overlying the
caudate nucleus in the premature infant. Immature blood vessels in this highly vascular area may be
subjected to various forces that, together with poor tissue vascular support, predispose premature
infants to IVH. IVH can be graded as follows:
- Grade 1; haemorrhage confined to subependymal germinal matrix
- Grade 2; IVH with no dilatation of ventricles
- Grade 3; IVH with distension of ventricles
- Grade 4; extension into the adjacent brain parenchyma
While treatment is purely supportive, prognosis depends on the grading of the IVH as follows:
- Grades 1 + 2; benign
- Grades 3 + 4; high risk of major handicap
Write short notes on ABO blood group incompatibility.
This is when naturally occurring anti-A or anti-B antibodies which are of the IgG class, cross the
placenta. This occurs in approximately 10% of mothers. Jaundice usually presents for the first 2
days but hepatosplenomegaly is absent.

Write short notes on transposition of the great arteries.


This is when the aorta arises from the right ventricle and the pulmonary artery from the left
ventricle. It presents with early cyanosis and cardiac failure, often with no murmur. Prostaglandins
are given to keep the ductus arteriosus open and an emergency septostomy is performed with a
corrective switch procedure later. TGA almost always presents in the first few days of life.

List causes of neonatal seizures.


Hypoxic ischaemic encephalopathy (usually presents before 3 days)
Intracranial infection (usually presents after 3 days)
Metabolic (hypoglycaemia, hypocalcaemia, hypomagnesaemia, hypo/hypernatraemia,
inborn errors of metabolism)
Intracranial haemorrhage (usually presents before 3 days)
Cerebral malformation (usually presents after 3 days)
Drug withdrawal syndrome
Benign familial neonatal convulsions

Write short notes on the management of retinopathy of prematurity.


Retinopathy of prematurity is a disorder due to incomplete vascularization of the retina. It is
classified as follows:
- Stage I; a thin demarcation line develops between the vascularized region of the retina and
the avascular zone
- Stage II; the line develops into a ridge protruding into the vitreous
- Stage III; extraretinal fibrovascular proliferation occurs with the ridge
- Stage IV; fibrosis and scarring occurs as the neovascularization extends into the vitreous and
traction on the retina results in retinal detachment
The prognosis depends on the stage:
- Stage I and II; 90% regress spontaneously
- Stage III; 50% regress spontaneously
Hence, management includes:
- Laser treatment in severe cases to prevent further progression
- Vitamin E in prevention is controversial
- Follow up eye examinations
Risk factors for ROP are:
- Sepsis
- High oxygen concentration
- Acidosis
- Respiratory distress syndrome
- Prematurity

Write short notes on fracture of the clavicle.


This is the bone most frequently injured during birth
May be associated with shoulder dystocia or assisted breech delivery
It may present as a crack heard during delivery, swelling from angulation of the bone,
crepitus on examination or noted as callus formation later
No treatment is usually needed
Healing is always rapid, without long-term deformity
What is craniotabes?
Soft and compressible skull bones
More common in preterm infants though it is also seen in term infants
Associated with congenital rickets, osteogenesis imperfecta and congenital syphilis

How does necrotizing enterocolitis present in the newborn?


Usually presents in the first week of life and 3 to 7 days after initiating enteral feeds
Signs of infection (handling poorly, apnoea, poor colour, tachycardia, tachypnoea)
Vomiting
Large gastric aspirates that may be bile-stained
Bloody stools
Abdominal distension
Abdominal tenderness
Abdominal discolouration
Induration of the abdominal wall
Umbilical flare
Progress to shock
Respiratory failure

Write brief notes on hepatitis C infection in the neonate.


Hepatitis C is a blood borne RNA virus that is transmitted parenterally. Vertical transmission has
been correlated with maternal viral load and disease activity and ranges from 0% to 5%. The natural
history in infants infected vertically is yet to be determined. Currently, there are no specific
preventive measures and diagnosis using antibody testing is confounded by maternal antibodies.
Treatment with interferon and ribavarin is undergoing evaluation.

Write short notes on the prevention of meconium aspiration syndrome.


Suction of pharynx as the head crowns during delivery
Immediate delivery of the infant and clamping of the cord
Suction of the larynx under direct laryngoscopic vision
Intubation of the trachea if meconium is seen at or below the level of the vocal cords
Suction through an endotracheal tube using a special suction attachment
Chest compression before the infant starts to breathe is recommended by some, thereby
minimizing inspiratory effort until the airway is clear

Write short notes on brown fat.


Brown fat is present in large amounts at birth and is mainly found in the interscapular and perirenal
areas. It remains metabolically important for several years but in time atrophies. Present at 28
weeks gestation, it allows the neonate to respond to cool environments by an increase in metabolic
rate and heat production without shivering. Noradrenaline released from sympathetic nerves acts via
beta-3 receptors increasing cAMP in the brown fat cell. The unique properties in the cells are due to
a protein, thermogenin which changes the fatty acid degradation pathway to become energy
dissipative instead of energy conserving. Hence, all the energy is released as heat.

What conditions are tested for on the Guthrie card (neonatal heel prick test)?
Phenylketonuria (1/4000)
Galactosaemia (1/20000)
Homocystinuria (1/60000)
Maple syrup urine disease (1/110000)
Congenital hypothyroidism (1/3500)
What are important points to remember when discussing the death of a child with parents?
Sharing in the sorrow of the babys death
Always referring to the baby by name
To sit silently when intense emotions exist
Arrangement for seeing the couple in 6 weeks or less (to allow them to ask questions, to
discuss results of the postmortem, to reassure them about possible future pregnancies, to
advise them on preconceptual counselling)
Letting them know that there is always someone to talk to in the hospital at any time
To speak slowly and coherently as in crises, parents only hear 10% of what you say
NEVER suggest that the loss is not a big deal as the parents are young or that there is a
bright side to the loss of their child if the child was thought to be abnormal in any way
should he or she have lived

What risk factors are associated with neural tube defects?


Absence of preconceptual and early pregnancy folic acid
Genetic factors
Higher incidence in Celtic races
More common in lower socio-economic groups
1st and 4th children are more likely to be affected
Radiation
Drugs
Malnutrition
Chemicals

Write brief notes on galactosaemia.


It is a rare autosomal recessive disorder whose condition may be fatal if diagnosis is delayed. The
disorder results from a deficiency of the enzyme galactose-1-phosphate uridyl transferase. Affected
infants are normal at birth but shortly after the commencement of milk may develop:
- Vomiting
- Diarrhoea
- Jaundice
- Hypoglycaemia
- Failure to thrive
If the diagnosis is delayed, the following complications may ensue:
- E. coli sepsis
- Liver disease
- Cataracts
- Mental retardation
- Death
Diagnosis includes urine being clinitest positive though it will be clinistix negative. Routine
screening with the heel prick test at 72 hours is also performed. Those who are considered high risk
having a first-degree relative affected can undergo the Beutler test which is an assay test. Treatment
consists of careful dietary control, being on a galactose-free diet for life.

Outline the common findings in an infant suffering from birth asphyxia.


Low Apgar scores at 5 minutes
Mixed acidosis
Multiorgan system dysfunction
Hypoxic ischaemic encephalopathy
What steps can be taken to improve the rate of successful breastfeeding?
The 10 steps to successful breastfeeding by UNICEF and the WHO are:
- Have a written breastfeeding policy that is routinely communicated to all healthcare staff
- Train all healthcare staff in skills necessary to implement this policy
- Inform all pregnant women about the benefits and management of breastfeeding
- Help mothers initiate breastfeeding within half an hour of birth
- Show mothers how to breastfeed and how to maintain lactation even if they are separated
from their infants
- Give newborn infants no food or drink other than breastmilk, unless medically indicated
- Practice rooming in by allowing mothers and babies to remain together 24 hours a day
- Encourage breastfeeding on demand
- Give no artificial teats, pacifiers, dummies or soothers to breastfeeding infants
- Help start breastfeeding support groups and refer mothers to them

Write short notes on transient tachypnoea of the newborn.


It is a pulmonary disease that mainly affects mature babies and is attributed to delayed clearing of
foetal lung fluid after the onset of respiration. Chest x-rays would show hyperexpanded lungs,
prominent perihilar streaking and fluid in the transverse fissure. TTN usually only lasts 24 to 48
hours. Risk factors for TTN include:
- Elective Caesarean section
- Male sex
- Macrosomia
- Delayed cord clamping
- Breech delivery
- Infant of a diabetic mother
- Polycythaemia

Name the common causes of neonatal intestinal obstruction.


Duodenal
o Atresia or stenosis
o Malrotation with volvulus
o Malrotation with kinking or adhesions
Jejunal/Ileal
o Atresia or stenosis
o Malrotation with volvulus
o Cystic fibrosis with meconium ileus
o Necrotizing enterocolitis
o Inguinal hernia with strangulation
o Meckels diverticulum with volvulus
o Panintestinal Hirschprungs disease
o Congenital adhesions or internal hernia
Colorectal
o Hirschprungs disease
o Intestinal neuronal dysplasia
o Anorectal agenesis
o Necrotizing colitis
o Small left colon syndrome
o Perinatal stress or infection
o Meconium plug syndrome
o Hypothyroidism
What are milia?
Milia are blocked sebaceous cysts which usually occur around the nose and cheeks. They are
common and are present in up to 40% of newborn infants. Characteristically, they appear as fine
white spots. These spots tend to resolve and clear spontaneously over the first 2 weeks of life.

Write brief notes on congenital rubella infection.


Organisms classically associated with in utero transmission include rubella. Infection in the first 8
weeks of pregnancy is most likely to result in severe and multiple defects of the foetus, particularly
to the eyes (cataract), heart (defects) and ears (deafness). Studies estimate that at least 80% of
infants whose mothers have rubella in the first 8 weeks of pregnancy have some rubella-associated
impairment. Between 9 and 12 weeks, maternal rubella results in damage to about 50% of foetuses
and is most likely to affect the ears. Between 13 and 16 weeks, less than 30% of infants are likely to
be affected and damage other than congenital hearing loss is unusual. After 18 weeks, the chances
of foetal damage are minimal but can still occur. Diagnosis uses an index of suspicion, a clinical
picture and is confirmed by lab studies (culture and serology). A live vaccine is available. As to
when to administer the vaccine remains controversial though many centres follow a policy of not
administering it in pregnancy or in the few weeks leading to pregnancy. The rubella syndrome
consists of:
- PDA
- Cataracts
- Hearing deficits
- Encephalitis
- Interstitial pneumonitis
- Interstitial pneumonia
- Sensory abnormalities
- Bony radioluciencies

What are the risks of Downs syndrome at different maternal ages?


Downs syndrome accounts for 1/3 of all those severely subnormal (IQ < 50). The risk of Downs
syndrome increases with maternal age as follows:
20 years 1/2000
25 years 1/2000
30 years 1/1300
35 years 1/400
40 years 1/90
45 years 1/32
50 years 1/15
If a mother has previously had a child with Downs syndrome, the risk is much higher.

Discuss the management of an infant with signs of drug withdrawal.


Supportive care
o Minimal stimulation (quiet and dark environment)
o Swaddling
o Prevention of excessive crying (pacifier, cuddling)
o Nutrition and increased caloric needs (up to 150 calories/kg/day)
Drug treatment (when supportive care is insufficient or Finnegan score of 8 or more)
o Opioids (oral morphine sulphate for pure opiate abuse)
o Phenobarbitone for poly-drug abuse
o Diazepam
- Breastfeeding is allowed as only small amounts of drug get into breast milk (except cocaine)
Describe the clinical features of sepsis in a 1-day-old infant.
Acidosis
Apnoea
Abdominal distension
Diarrhoea
Decreased urinary output
Bradycardia
Grunting
Hypoglycaemia
Hypocalcaemia
Hypoxia
Hypotension
Intercostal recession
Irritability
Jaundice
Malaise
Meningeal signs
Poor suck
Poor feeding
Rash
Regurgitation
Seizures
Temperature instability
Tachypnoea
Tachycardia
Thrombocytopaenia
WBC increase

Write short notes on tracheo-oesophageal fistulas (TOF).


A TOF is a connection between the trachea and oesophagus often also associated with oesophageal
atresia. It may be excluded by passing a nasogastric tube into the stomach. Clinical features include:
- Abdominal distension
- Polyhydramnios (due to failure to swallow liquor in utero)
- Bubbling from the mouth (the infant is unable to swallow saliva)
- 50% have other abnormalities
Treatment involves reconstruction of the oesophagus and closure of any fistulous connections
surgically. The survival rate after surgery is 90%.

What would make you suspect that a newborn infant had intestinal obstruction?
Abdominal distension
Failure to pass meconium
Bile-stained vomiting
Irritability

What is hypospadias?
It is when the urethra opens on to the ventral aspect of the penis at a point proximal to the normal
site. Hypospadias occurs in 1 in 600 births. Severity varies and surgical repair is indicated if the boy
is incapable of a socially acceptable urinary stream. It is essential to conserve the foreskin for use in
the corrective procedure.
What are the problems facing an infant born with spina bifida?
Spina bifida means an incomplete vertebral arch, due to developmental failure of fusion of the
vertebral column. This may be associated with external protrusion of the meninges and spinal cord.
Spina bifida occulta is the most benign form and is of no clinical significance. Major problems of
spina bifida aperta, also called spina bifida cystica, include:
- Lower limb abnormalities with flaccid paralysis, absent deep tendon reflexes, lack of
response to deep touch and pain and high incidence of postural abnormalities
- Neurogenic bladder with constant urinary dribbling, recurrent UTIs and associated ureteric
reflux and subsequent renal failure
- Faecal incontinence with a patulous anus or chronic constipation
- Mental retardation
- Hydrocephalus occurs in 80% to 90% of affected infants
- Signs of hindbrain dysfunction (feeding difficulties, choking, stridor, apnoea)

Write short notes on Toxoplasma gondii infection.


It is a congenital infection with clinical manifestations of in utero infection with a same range of
abnormalities as with CMV. Acquisition by the mother is through contact with animal litter or
ingestion of undercooked meat. The classic triad is as follows:
- Hydrocephalus
- Intracranial calcification
- Chorioretinitis
Maternal infection early in gestation is less likely to cause foetal infection though if it does, the
effects are more severe. Infection late in gestation more commonly affects the foetus though the
effects are more subclinical. Diagnosis is based on an index of suspicion, a clinical picture and is
confirmed by lab studies (culture, serology, skull x-ray, CT and histology).

How much weight should a normal term infant gain during the first 6 weeks of life?
A normal infant may lose up to 10% of his or her body weight in the first few days of lie. They
should regain their birthweight by 2 weeks of age and thereafter should put on 200 grams per week
for the first 3 months of life.

Write short notes on constipation in infants.


The cause of constipation is often insufficient fluid or food. It is essential to establish whether there
is true constipation (hard stools) though. On assessment, one should determine that the infant is
otherwise well. Rectal examination (looking for anal stenosis) is usually not required on initial
assessment. Management initially involves reassurance and advice on ensuring adequate fluid in the
diet. Generally, in the first few months of life extra fluid or sugar may cure the problem. Possible
suppositories or purgatives should be avoided. Rare causes include hypothyroidism,
hypercalcaemia, Hirschprungs disease and anal stenosis.

List factors predisposing to bronchopulmonary dysplasia.


High pressure IPPV + PIE
Pulmonary oxygen toxicity
Very immature lungs
Pre-existing lung disease
PDA and fluid overload
Infection
Persisting immaturity of the surfactant system
Disturbance of the elastase/protease system in the lung destroying parenchyma
Gastro-oesophageal reflux and inhalation of gastric contents
What are the most common problems in premature infants?
Apnoea
Anaemia
Birth asphyxia
Bronchopulmonary dysplasia
Cholestatic jaundice
Hypo/hyperglycaemia
Hypo/hypernatraemia
Hypocalcaemia
Hyperkalaemia
Hypotension
Infection
Inguinal hernias
Ileus, feeding difficulties
Intraventricular haemorrhage
Jaundice
Nutrition
Necrotizing enterocolitis
Patent ductus arteriosus
Respiratory distress syndrome (almost exclusive to premature infants)
Renal immaturity
Retinopathy of prematurity
Thermal instability

Write brief notes on physiological jaundice.


Physiological jaundice is a progressive rise in serum unconjugated bilirubin from 2 mg/dL
(34 micromol/L) to over 6 12 mg/dL (100 200 micromol/L), slowly declining to adult value
(1 mg/dL) by day 10. It is a transient rise in bilirubin which occurs in normal infants and tends to
occur between day 2 and day 5 after birth. The preterm baby has a greater incidence. Causes
include:
- Shortened red cell life span
- Higher haematocrit in the newborn
- Patent ductus venosus, blood bypassing the liver
- Decreased glucuronyl transferase activity
- Increased enterohepatic circulation

List complications of multiple pregnancies.


Increased risk of perinatal mortality
Prematurity (incidence is 25%)
Malpresentation
Congenital abnormalities
Postural deformities
Twin to twin transfusion
Asphyxia
Intrauterine growth retardation
Hypoglycaemia
Polycythaemia
The children are at a greater risk of subsequent psychological problems
The children may have delayed language development
List problems affecting infants as a result of maternal cigarette smoking during and after
birth.
Birthweight of infants whose mothers smoked heavily during pregnancy is 200g less than
average (smoking 12 cigarettes per day during pregnancy reduces birthweight by 180g)
Perinatal morbidity is increased when medical care is inadequate
Nicotine is a potent vasoconstrictor and impairs uteroplacental blood flow
Causes an increased level of carboxyhaemoglobin in the foetal blood with subsequent tissue
hypoxia
Increased risk of miscarriage
Increased risk of bleeding during pregnancy
Increased risk of premature labour
Increased risk of stillbirth
Increased risk of early neonatal death
Increased risk of cot death
Increased chest infections
Asthma
Development of serious otitis media which may lead to deafness
Admission to hospital

Describe briefly the main circulatory changes that occur at birth to enable adaptation to
extrauterine life.
Clamping of the umbilical cord
o Systemic vascular resistance doubles with removal of placenta
o Arterial pressure and afterload on the heart increase
First breaths after birth
o Mechanical expansion of the lungs
o Changes in alveolar/arterial PO2, PCO2
o Pulmonary vascular resistance is reduced
o Pulmonary blood flow increases
Rise in left atrial pressure
o Reduced flow to right atrium due to clamping of the umbilical vein
o Decrease in pulmonary vascular resistance with rise in blood flow through lungs to
left atrium
o Increase in resistance to left ventricular output due to clamping of the umbilical
arteries
o Reversal of pressure gradient across the atria
Closure of shunts
o Ductus venosus closes when blood flow through the umbilical vein stops
o Ductus arteriosus constricts within hours after birth and obliteration follows in weeks
to months
o Foramen ovale shunt is reduced and septal leaflets are fused over days or weeks as a
higher left atrial pressure tends to hold shut the valve
Chemical mediators
o Indomethacin which inhibits prostacyclin and prostaglandin synthesis, closes the
ductus arteriosus

What are risk factors for development of congenital dislocation of the hip?
Female sex (F: M ratio of 7: 1), more common in the firstborn
Positive family history
Breech delivery
Foot deformities including calcaneovalgus
Write brief notes on neonatal conjunctivitis.
Early onset conjunctivitis is often sterile and may be due to irritation from amniotic fluid debris.
When tears occur (after age 3 weeks) and the tear duct is not patent, epiphora occurs and may result
in conjunctivitis. Bacterial infection usually starts on the third to fifth day and is most typically
Staphylococcus aureus or E. coli and is treated with appropriate antibiotic eye ointment if cleaning
alone is unsuccessful. Antibiotic ointment includes fucithalmic or chloromycetin ointment.

Give methods of improving the uptake of breastfeeding by mothers.


Encourage all mothers to give breastfeeding a go (explain the benefits20 good reasons!)
Commence breastfeeding as soon as possible after birth
Encourage rooming in
Breastfeed on demand
No supplements should be given to breastfed infants unless medically indicated and
pacifiers should be avoided
Consistent lactation support information is essential
If breastfeeding has to be interrupted temporarily, expression of breastmilk is indicated

Discuss briefly the differential diagnoses of hypoxic ischaemic encephalopathy.


Sepsis (meningitis, encephalitis)
Metabolic disorders (inborn errors of metabolism)
Intoxication (maternal drugs)
Brain malformation
Because the signs and symptoms of HIE are not specific, the abovementioned diagnoses must be
considered.

Discuss briefly the prevention of respiratory distress syndrome.


Antenatal steroids act on lung fibroblasts to induce fibroblast pneumocyte factor which in
turn stimulates surfactant synthesis from type II pneumocytes (maximum benefit is when the
baby is delivered between 24 hours and 7 days after the administration of the steroids)
Avoidance of trauma and hypoxaemia during labour (role of Caesarean section)
Prompt and skilled resuscitation at delivery
Hypothermia must be avoided at all costs

What complications may occur in an infant whose mother has insulin dependent diabetes
mellitus?
Preterm delivery and prematurity
Macrosomia
Birth trauma
Birth asphyxia
Respiratory distress syndrome
Transient tachypnoea of the newborn
Hypoglycaemia
Hypocalcaemia
Polycythaemia
Unconjugated hyperbilirubinaemia
Congenital malformations (6%)
Hypertrophic cardiomyopathy
Small left colon syndrome
Renal vein thrombosis
Intrauterine foetal death
Which infants are at risk of hypoglycaemia? (Causes of hypoglycaemia)
Those with decreased substrate availability as in inadequate glycogen stores
o IUGR
o Prematurity
o Prolonged starvation or delayed feeding
Those with increased glucose utilization as in hyperinsulinism
o Infants of diabetic mothers
o Hyperplasia of pancreatic ducts
o Severe illness
Those with the inability to utilize glucose
o Glycogen storage disease
o Galactosaemia
o Fructosaemia
o Other inborn errors of metabolism
Iatrogenic and miscellaneous
o Birth asphyxia
o Endocrine deficiencies
o Hypothermia
o Polycythaemia

Write short notes on Fallots tetralogy.


It is an example of a cyanotic congenital heart disease and consists of:
- Ventricular septal defects
- An overriding aorta
- Right ventricular hypertrophy
- Pulmonary stenosis

Define perinatal mortality rate. What are the main causes of neonatal death?
Perinatal mortality rate refers to the number of stillbirths and first week neonatal deaths per 1000
live births and stillbirths. Main causes of neonatal death (death of a live-born infant during the first
28 days of life) are:
- Congenital malformations (50%) like NTDs and trisomies
- Immaturity (33%)
- Asphyxia
- Infection
- Others

Write short notes on cleft palate.


A cleft palate may be found alone or may be associated with a cleft lip too. Cleft lip and palate is
more common though having an incidence of 1/1000. It is more common in male infants and
genetic factors are more important than in cleft palate alone. The incidence of cleft palate alone is
1/2500. Problems associated with cleft palate are:
- Recurrent URTIs
- Otitis media
- Orthodontic problems
- Speech problems
It is treated by referral to a specialist unit with the palate being repaired at 9 to 12 months to allow
maxillary growth and easier surgical access. These infants need long-term follow up because of the
problems abovementioned. Cleft palate may be associated with chromosomal or other congenital
anomalies.

Describe briefly the main features of the circulation of blood in the foetus.
The placenta is a low resistance pathway that receives about 50% of the total foetal cardiac
output
The umbilical vein carries oxygenated blood from the placenta to the foetus
The ductus venosus is a connection between the umbilical vein and IVC which allows 50%
of the oxygen-rich blood returning from the placenta to bypass the liver and drain directly
into the IVC while the other 50% passes through the liver
The foramen ovale is an opening between the left and right atria which allows 25% of the
systemic venous return to be diverted from right to left atrium bypassing the pulmonary
circulation while the remaining 75% flows into the right ventricle
The ductus arteriosus is a large opening between the pulmonary artery and aortic arch which
shunts 85% of the right ventricular output from the pulmonary artery into the aorta
bypassing the pulmonary circulation while the remaining 15% goes to the lungs
Blood from the left atrium then passes into the left ventricle and is then pumped through the
aorta to be distributed to the head and upper body (1/3) and rest of the body (2/3)
2 umbilical arteries from the descending aorta carry deoxygenated blood back to the
placenta

List foetal causes of intrauterine growth retardation.


Chromosomal abnormalities like trisomy 13, 18, 21 and Turners syndrome
Congenital infections like TORCH though CMV is most common
Syndrome like the Russell-Silver syndrome

List the components of the Apgar score. Which is the most important?
Heart rate (most important)
Respiration (most important)
Tone
Response to stimuli
Colour

What do you understand by the term asphyxia?


Perinatal asphyxia causes multiorgan failure and exists when an antepartum event, labour or birth
process diminishes the oxygen supply to the foetus causing decreased foetal or newborn heart rate
and resulting in impairment of exchange of respiratory gases and inadequate perfusion of major
organs. Asphyxia has 3 biochemical components:
- Hypoxaemia
- Hypercapnea
- Mixed respiratory and metabolic acidosis

Describe the factors that predispose to intraventricular haemorrhage.


Birth asphyxia
Bleeding disorders
Birth trauma
Breech delivery
Prematurity
Pneumothorax
PDA
RDS
Rare in term infants

Write short notes on congenital hypothyroidism.


These infants are usually asymptomatic at birth. Physical features that may present though are:
- Postmature appearance
- Wide fontanelles
- Umbilical hernia
- Goitre
Bone age will show delayed ossification for gestational age. If untreated, severe developmental
delay and stunting of growth will occur. Diagnosis is made my neonatal screening involving an
ELISA assay of TSH level on the Guthrie card. If the Guthrie card reveals a raised TSH level, the
babys T4 and T3 levels are measured. If these levels are low, congenital hypothyroidism is
diagnosed. In Ireland, 90% of cases are due to thyroid dysplasia or aplasia. The remaining 10% of
cases are due to dyshormonogenesis in which the thyroid gland is present but unable to produce
sufficient thyroid hormone. Dyshormonogenesis may be associated with sensorineural deafness
(Pendreds syndrome). Treatment is thyroxine replacement hormone once a day for life. Rarely
congenital hypothyroidism may be secondary to pituitary or hypothalamic deficiency. In these
cases, the Guthrie test will be falsely negative. Breastfed infants with borderline congenital
hypothyroidism may also not test positive on screening.

Provide reasons why we should persuade mothers to breastfeed their newborn infants.
Immunological (breastmilk is referred to as white blood and contains IgA, lymphocytes,
and lysozyme which protect the baby against respiratory and gastrointestinal infections)
Nutritional (compared to cows milk, it has a better protein content, more suitable fat
composition, less sodium and less phosphate and provides all the nutrients required)
Psychological (breastfeeding brings mother and baby closer and is satisfying)
Contraceptive (prolonged breastfeeding delays return of the menses and hence can be used
for child spacing)
Economic (it is free)
Breastmilk is easier to digest
Allergy to breastmilk is very rare
There may be a lower risk of SIDS
Breastfed babies are less likely to develop IDDM
Babies who are breastfed for 6 months or more are less likely to develop lymphomas
Less likelihood of developing food allergies
Delays the development of dermatitis
The child may develop a significantly higher IQ
Nursing is a great source of comfort and security to the baby
Breastmilk needs no preparation as it is always ready, always at the right temperature and
always in the right amount
Causes contraction of the uterus to its pre-pregnant state
Mothers are less likely to develop breast cancer
It protects against ovarian cancer
Hormones like oxytocin and prolactin help promote bonding and helps mothers relax
Babys nappies do not smell or stain as much as those of bottle-fed babies
Decreases pollution of air, water and land by reducing production and packaging
Mothers tend to lose weight faster

Describe the clinical features of early onset group B streptococcal sepsis in the neonate.
Fulminating
Multisystem
Pneumonia is frequent
Clinical features of neonatal infection (refer to page 12)
List causes of cerebral palsy. What is its prevalence?
Cerebral palsy is a disorder of movement and posture due to a non-progressive lesion of the brain.
Its prevalence is 2.3/1000 and its causes can be divided as follows:
- Prenatal
o Asphyxia
o Vascular (haemorrhage, infarction)
o Infection
o CNS malformation or abnormality
- Perinatal
o Asphyxia
o Infection
o Intracerebral haemorrhage
o Metabolic
o Prematurity
- Postnatal
o Infection
o Cerebral haemorrhage
o Trauma
o Neoplasia
o Asphyxia

Write brief notes on meconium aspiration syndrome.


Distressed foetuses may pass meconium in utero. Intrauterine hypoxia stimulates bowel peristalsis
and causes relaxation of the anal sphincter with subsequent passage of meconium. This condition
occurs in mature infants since premature infants only very rarely pass meconium in utero.
Meconium-stained liquor in the mouth and upper airway may be inhaled causing airway obstruction
and an increased risk of pneumothorax. The meconium may cause a chemical pneumonitis and
predisposes the neonate to bacterial infection. Pulmonary hypertension may ensue in some cases.
The passage of meconium is one of the signs of foetal distress. The response of the infant to
intrapartum asphyxia is to gasp and hence this may cause meconium to be aspirated into the lungs.
Clinical features include:
- Tachypnoea
- Tachycardia
- Over-distension of the chest
- Radiography shows areas of lung collapse, consolidation and emphysema
Treatment of respiratory complications depends on the severity of the aspiration syndrome.
Antibiotics may also be given to prevent and treat any pneumonia.

Write short notes on Erbs palsy.


Brachial plexus injuries are caused by stretching of the cervical roots during delivery, usually when
shoulder dystocia is present. Upper arm palsy (Erb-Duchenne) is the most common brachial plexus
injury and is caused by injury to the upper trunk of root values C5 and C6. The elbow will be
extended and the forearm pronated with the wrist flexed. This is known as the waiters tip
position.

Why does the newborn infant lose weight in the first week?
A newborn infant may lose up to 10% of its birthweight in the first week of life but should regain
their birthweight by day 10 of life. During the first 72 hours after birth there is usually a negative
balance for electrolytes, calories, nitrogen and water until lactation becomes established. As fluid
intake gradually increases over the first few days, there is a transition from negative to positive
electrolyte and water balance. Other theories include that the loss of weight is due to loss of fluid
the newborn gained in utero.
List the factors associated with the occurrence of respiratory distress syndrome.
Prematurity (gestational age is the major determinant, 80% of infants with an L: S ratio of
less than 1.5: 1 develop RDS)
Perinatal asphyxia (hypoxia and acidosis reduce surfactant synthesis)
Maternal diabetes (delay in surfactant maturation, IDM are deficient in DPPG)
Caesarean section (prelabour LSCS beyond 32 weeks)
Second twins
Male babies

List the causes of hypotonia in the neonate.


Central
o Hypoxic ischaemic encephalopathy
o Intracranial haemorrhage
o Cerebral malformation
o Chromosomal disorder
o Metabolic disorders like hypothyroidism
o Maternal drug ingestion like diazepam
Peripheral
o Spinal muscular atrophy
o Neuropathy
o Neonatal myasthenia
o Congenital myopathy
o Congenital myotonic dystrophy
o Joint or skin laxity syndromes

What problems would you anticipate in an infant born alive who has suffered intrauterine
growth retardation?
In utero
o Stillbirth
o Foetal distress during labour
At delivery
o Birth asphyxia and its sequelae
Low Apgar scores at 5 minutes
Mixed acidosis
Multiorgan system dysfunction
Hypoxic ischaemic encephalopathy
Neonatal period
o Congenital malformations (x 20 fold)
o Hypothermia
o Hypoglycaemia
o Polycythaemia
o Cardiorespiratory problems like meconium aspiration
o Necrotizing enterocolitis
o Hypocalcaemia
What are the clinical features of congenital pyloric stenosis?
Presents as a hungry baby with non-bilious projectile vomiting
Palpable pyloric tumour to the right of the umbilicus
Visible marked peristaltic waves as the infant feeds
Dehydration
Hypokalaemic metabolic acidosis
What clinical features are seen in infants who suffer from intrauterine growth retardation?
Decreased subcutaneous fat
Skin may be loose and thin
Decreased muscle mass, especially on the buttocks and thighs
Thin umbilical cord
Infants often exhibit wide-eyed anxious faces
Functionally mature in keeping with gestation
Rapid postnatal weight gain

Write brief notes on preventive strategies regarding neural tube defects.


All potentially childbearing women are recommended to supplement their dietary folic acid by
taking 400 micrograms orally daily for 1 month prior to conception and during the first 3 months of
pregnancy. If there is previous family history, women should take a higher dose (4 milligrams).

What are effects of excessive alcohol on the foetus?


Increased risk of congenital anomalies
Impaired intellect
Prenatal growth retardation
Postnatal growth retardation
Signs of neurologic abnormalities
Developmental delay
Intellectual impairment
Microcephaly
Microphthalmia +/- narrow palpebral fissures
Poorly developed philtrum of upper lip, thin upper lip or flattening of maxillary area
Cleft palate +/- cleft lip
Ear malformations
Cardiac malformations
Renal malformations
Limb and joint abnormalities

Outline briefly the assessment of jaundice in a 4-day-old infant.


History
Physical examination
Laboratory studies
Total and direct bilirubin
Coombs test
Blood film, haemoglobin and blood count
MSU (for UTIs)
TFT
Hepatic enzymes
Urinalysis for reducing substances (galactosaemia)
Screening for congenital infection
Sweat test (for cystic fibrosis)
Alpha-1-antitrypsin
Liver ultrasound
HIDA scan

What clinical features and problems are associated with intraventricular haemorrhage in the
newborn?
Clinical features include:
- Asymptomatic (50%)
- Absent or exaggerated Moro reflex
- Bulging fontanelle +/- expanding head
- Cerebral irritability
- Deteriorating feeding skills
- Shock
- Seizures
Problems include:
- Early (acute deterioration, apnoea, bradycardia, shock, seizures)
- Late (hydrocephalus, post-haemorrhagic ventricular dilatation with inappropriate increase in
head circumference, lethargy, drowsiness, vomiting, tense fontanelle, widely spaced sutures,
possible requirement of VP shunt)

Write brief notes on pathological jaundice.


Any jaundice may be pathological but is more likely when:
- The jaundice occurs before 24 hours
- Serum bilirubin is more than 200 micromoles per litre
- There is persistent jaundice after 7 to 10 days
Causes include:
- Increased production
o Haemolysis secondary to blood group incompatibility
o Haemolysis associated with erythrocyte abnormalities or red cell enzyme defects
o Extravasation of blood/bruising/cephalhaematoma
o Polycythaemia
o Increased enterohepatic circulation
- Reduced excretion
o Hypoperfusion of liver
o Decreased bilirubin conjugation
o Decreased transport of bilirubin out of hepatocytes
o Obstruction of the biliary tree (biliary atresia or extrinsic obstruction)
o Cholestatic syndromes
o Inborn errors of metabolism
- Increased production and reduced excretion
o Congenital infections
o Bacterial sepsis

What are the priorities in immediate management of a newborn infant with suspected
intestinal obstruction?
Reassurance of parents
Investigations depending on presentation (barium meal for bilious vomiting)
Surgery for duodenal, jejunal or ileal atresia (duodenoduodenostomy)
Gastrogaffin (hydrophilic contrast enema) for meconium ileus softens the meconium
10 ml/kg of IV fluids to prevent dehydrating effects of gastrogaffin
Surgery for meconium ileus if gastrogaffin does not work
Rectal washouts for Hirschprungs disease followed by an endorectal pull through
Reduction of hernia under sedation followed by repair 24 to 48 hours later
Ladds procedure for malrotation

How does hypoglycaemia affect the newborn?


Asymptomatic
Apnoea
Convulsions
Coma
Congestive heart failure
Hypotonia
Irritability
Jitteriness
Tremors
Apathy
Cyanotic spells
Temperature instability
Poor feeding
Refusal to suck
Late morbidity in adult life (NIDDM, IHD, HPT, hyperlipidaemia)

Should all infants with features of Downs syndrome have a chromosome analysis? Why or
why not?
Management of infants with Downs syndrome involves confirming the diagnosis by chromosomal
analysis and informing the parents of the diagnosis at the earliest opportunity. Information can then
be given to the parents on the prognosis and general management. Parents may want to establish
links with the local Downs syndrome association. Genetic counselling about the risk of future
children having Downs syndrome as well as the opportunity for prenatal diagnosis may be offered
to the parents.

What is the risk of cystic fibrosis in an infant whose older brother is affected with this
condition?
Cystic fibrosis is a disease with an incidence of 1 in 2000. It is an autosomal recessive disorder with
a carrier rate of 1/25. If an infant has a sibling who has the disease, it can be inferred that both
parents are carriers of the gene. Hence, the risk of an infant whose older brother has the disease is
1/625 (1/25 x 1/25).

How much formula feed does the average term baby require at age 7 to 10 days? What is the
normal weight gain in the first weeks of life? How many calories are there in 100 mls of
formula?
i. 60 mls/kg/day for the 1st 24 hours
80 mls/kg/day for the 2nd 24 hours
100 mls/kg/day for the 3rd 24 hours
120 mls/kg/day for the 4th 24 hours
150 mls/kg/day thereafter
ii. There may be loss of up to 10% of birthweight in the first week, regained by 10 days
After that, an increase of 200 grams per week is normal up to 3 months of age
From 3 to 6 months, an increase of 150 grams per week is seen
From 6 to 9 months, an increase of 100 grams per week is seen
From 9 to 12 months, an increase of 75 grams per week is seen
iii. There are 67 kcal in 100 mls of milk
(20 kcal = 30 mls = 1 fluid oz)

Describe the clinical features of Downs syndrome.


General
o Hypotonia
o Small mouth with a tendency to protrude the tongue
o Distended abdomen
o Umbilical hernia
o Hyperflexibility of joints
o Relatively small stature with awkward gait (after infancy)
o Short neck
Central nervous system
o Mental retardation
Craniofacial
o Brachycephaly with flat occiput
o Midline parietal hair whorl, hair usually straight and rather sparse
o Mild microcephaly with up-slanting palpebral fissures
o Late closure of fontanelles
o Short hard palate
o Small nose with a low flat nasal bridge
o Prominent inner epicanthic folds
Eyes
o Almond-shaped slanting upwards and outwards
o Speckling of iris (Brushfields spots)
o Peripheral hypoplasia of the iris
o Tendency for cataracts
o Fine lens opacities
o Refractive errors (squints later)
Ears
o Small and sometimes low set
o Abnormally simple or shell-shaped
Limbs
o Broad hands with short fingers of equal length
o In-curving of the fifth finger, sometimes with a single crease on that finger
o Single Simian palmar crease (95%) (NOT pathognomonic of Downs syndrome)
o Simian foot with a wide gap between big toe and second toe (sandal-gap)
Others
o Duodenal atresia, imperforate anus, increased risk of congenital heart disease,
ventricular septal defects, ostium primum defects, hypothyroidism (later in life)

List causes of increased tone in the neonate.


Asphyxia
Infection
Hypoglycaemia
Hypocalcaemia
Hypernatraemia
Drug withdrawal
Intracranial haemorrhage
Postmaturity
Idiopathic

List the main causes to be considered in a 2-week-old infant who presents with a history of
vomiting over 2 days.
Feeding problems
o Overfeeding
o Excessive handling after feeds
o Swallowed wind
o Incorrect feed preparation
Neonatal intestinal obstruction
o Duodenal atresia
o Malrotation
o Volvulus
o Small bowel atresia
o Meconium ileus (between 10% and 20% of infants with CF present with this)
o Large bowel obstruction
Ileus
o Prematurity
o Asphyxia
o Exchange transfusion
Septicaemia
o UTI
o Gastroenteritis
o Pneumonia
o Meningitis
o Omphalitis
Necrotizing enterocolitis
Galactosaemia or congenital adrenal hyperplasia
Gastro-oesophageal reflux

List causes of vomiting in an older infant.


Gastroenteritis
UTI
Pyloric stenosis
Regurgitation

A newborn baby fails to pass urine in the first 2 days of life. What does this mean?
The newborn baby normally passes about 15 ml of urine per day for the first 2 or 3 days. The
amount of urine output then increases over the next few days to between 50 ml and 300 ml up to
day 10. From day 10 onwards, urinary output is between 210 ml and 450 ml per day. Causes of
decreased or absent urinary output include:
- Dehydration
- Absent urethral orifice
- Missed infant micturition
- Obstruction in the urinary tract including posterior urethral valve abnormalities
- Renal agenesis
- Shock

What condition might a baby with CHT have to render the Guthrie test unhelpful?
Breastfed infants with borderline congenital hypothyroidism may not test positive on screening, as
there may be sufficient T4 in the milk inhibiting a rise in TSH.

List problems that can occur associated with breastfeeding.


Tender nipples
Sore or cracked nipples
Overfull breasts
Blocked milk ducts
Mastitis
Infection and abscess

Do newborn infants feel pain?


Yes
Observed by their reactions, for example with injections

What causes should be considered in a 1-day-old infant with bilious vomiting?


Jejunal atresia
Ileal atresia
Malrotation
Sepsis
Small bowel obstruction
Large bowel obstruction
Necrotizing enterocolitis

What is periventricular leucomalacia?

Write a note on meconium ileus.


Plug of thick meconium obstructing the large bowel
95% of babies with cystic fibrosis present with it
It is associated with poor feeding
Can result in bowel perforation
Gastrogaffin may be used for softening but surgery may be required

A mother wants to have her first baby at home. List the points for and against you would put
to her.

What are the consequences of hypothermia in the neonate?


Hypothermia is defined by a body temperature less than 35 degrees Celsius. It is seen commonly in
infants with hypoxic brain damage. Consequences include:
- Decreased metabolic rate
- Poikilothermia
- Hypoglycaemia
- Sepsis

What is hydrops of the newborn?


It is the most severe form of haemolytic disease of the newborn. The majority are stillborn and if
alive, rarely survive longer than 24 hours. There is severe anaemia and intrauterine high output
cardiac failure with myocardial damage. There is also increased pressure in the umbilical vein and
decreased placental perfusion.

Write short notes on vitamin K. Why is it given routinely to newborn infants?


Haemorrhagic disease of the newborn is due to deficiency of vitamin K-dependent clotting factors
II, VII, IX and X. This disease has declined in incidence due to the routine administration of
intramuscular vitamin K at birth. Vitamin K is normally produced by bacterial flora in the GIT but
newborns have sterile bowel at birth. Breastfed infants, premature infants, those exposed to
perinatal asphyxia or maternal anticonvulsants are most at risk. The disease may present between
day 2 and 4 with bruising, bleeding or intracranial haemorrhage. Diagnosis is made by an increased
PT and a normal APTT. Treatment is with intramuscular vitamin K and 10 ml/kg IV for active
bleeding.

What are the priorities in stabilization of an ill newborn infant?


Temperature, blood gases, blood pressure, tissue perfusion, glucose
Complete stabilization may not be possible in some situations (aim for the optimal)
Complications addresses as needed but must be corrected before transfer of infant:
o Hypothermia
o Hypoxaemia
o Hypotension
o Poor perfusion
o Acidosis
o Hypoglycaemia
o Fluid/electrolyte deficits
CXR obtained if respiratory distress present
Not essential but a primary diagnosis should try to be made
AND
Counselling of parents
Resuscitation with trained personnel at delivery
Oxygen and/or assisted ventilation
Circulatory support with volume expansion
Antibiotics
Monitoring of respirations, heart rate, colour, oxygen saturation, temperature, blood gases,
blood glucose, electrolytes, body weight, gastric aspirates
Fluid and nutrition, initially IV dextrose, parenteral/enteral feeds

What conditions may need to be considered in an infant who shows signs of an


encephalopathy on the first day of life?
Infection
Abnormality of brain blood supply
Tumour
Exogenous toxic encephalopathies include:
- Maternal drugs
- Maternal disease (PKU, thyrotoxicosis)
- Infusions
- Vitamin A or D intoxication
Endogenous toxic encephalopathies include:
- Inborn errors of metabolism
- Hypernatraemia
- Hypercalcaemia
- Hyperbilirubinaemia
- Uraemia
- Liver failure
- Diabetes mellitus
Write a brief note on omphalocoele.
Exomphalos or omphalocoele is the protrusion of abdominal contents through the umbilical ring
covered with a transparent sac. It occurs when there is a defect in the abdominal wall of varying
size. There is a 40% incidence of associated anomalies and a 25 30% mortality rate. While small
ones may epithelialize, large ones need to be surgically corrected.

List reasons for which parents should be advised to urgently seek medical advice.
Repeated forceful or projectile vomiting (in contrast to common spitting up or regurgitation)
Poor feeding or refusal of feed
Frequent diarrhoea, with bowel movements becoming more numerous or watery
Excessive constant crying or a continuing cry different from the babys usual kind of cry
Rapid laboured breathing or frequent severe coughing (in contrast to common minor
breathing irregularities or occasional cough)
Unusual skin rashes
Persistent fever, particularly in the first few months
Basically, any change in the infants usual colour, breathing, behaviour or activity

What is the neonatal mortality rate? What is the neonatal mortality in Ireland?
It refers to the number of deaths of live-born infants with birthweights greater than or equal to 500
grams, during the first 28 days of life per 1000 live births. It is <5 per 1000 live births in Ireland.

List factors used in predicting the long-term outcome of infants who have suffered perinatal
asphyxia.
Apgar score (0 3 at 20 minutes = 57% cerebral palsy)
Clinical grading of hypoxic ischaemic encephalopathy
Electroencephalographic (EEG) abnormalities
CT or MRI brain scan findings
In simple, there is no single reliable factor. The abovementioned are just predictive parameters.

What is rubella syndrome?


PDA
Cataracts
Hearing deficits
Encephalitis
Interstitial pneumonitis
Interstitial pneumonia
Sensory abnormalities
Bony radioluciencies
Expanded rubella syndrome includes:
- SGA
- Microcephaly
- PDA
- PS
- Lymphadenopathy

List 5 minor normal findings in the newborn.


Strawberry naevi
Milia
Capillary haemangiomas
Erythema toxicum
Mongolian spots
What is erythema toxicum?
Not seen in pre-term or post-term babies and also known as neonatal urticaria, it is a harmless skin
disorder that is characterized by red blotches with a central white vesicle. These blotches are in
contrast to septic spots or obvious pustules and look similar to those seen with nettle rash. Each spot
lasts about 24 hours. The cause is unknown but is believed to be associated with the friction
between the babys skin and their clothes. A characteristic finding is that fluid from a vesicle is rich
in eosinophil cells while the circulating blood levels of eosiniphils are normal.

List factors that predispose to birth injuries.


Macrosomia
Cephalopelvic disproportion
Shoulder dystocia
Prolonged or difficult labour
Precipitous labour
Abnormal presentations, including breech
Instrumental delivery, especially forceps

How may heat loss occur in a newborn infant?


Radiation
Evaporation
- From skin surface when neonate is covered by liquor amnii
- From the lungs which will be further increased by hyperventilation
- If premature, losses can be considerable because of decreased subcutaneous fat and
thin epidermal barrier to water diffusion and relative increase in surface area
- During exposure to phototherapy
Conduction
- If the neonate is placed on a cold surface
Convection
- Skin-air temperature gradients

List general features that you are advised to note on inspection of the newborn infant as part
of the physical examination.
Any obvious deformity or dysmorphism
Level of alertness
Colour, including cyanosis, jaundice and pallor
Posture
Movements
General nutrition
Hydration
Any obvious respiratory difficulties
Skin lesions, including erythema toxicum, haemangiomas, naevi, milia and Mongolian spots
Birth injuries
Cry
Cough
Weight (normal range is 2.5 4 kilograms)
Length (normal length is about 50 cm in term infants)
Head circumference (normal range is 33 37 cm)

Write short notes on chlamydial eye infection.

Write brief notes on Potters syndrome.


This syndrome has an incidence of 1 in 4000 births and a male predominance. It refers to the
association of dysmorphic clinical features and bilateral renal agenesis. Failure of renal
development is associated with oligohydramnios and retardation of lung development. These infants
usually have severe lung hypoplasia which is incompatible with life. The oligohydramnios also
gives rise to characteristic facial features including a beaked nose, low set abnormal ears, prominent
epicanthic folds and an anti-Mongolian slant to the eyes. The foetal surface of the placenta often
shows amnion nodosum, a condition in which there are small white plaques of fibrinoid necrosis.

Write short notes on phenylketonuria.


It is an autosomal recessive condition with an incidence of 1 in 4500 and is screened routinely using
a bacterial inhibition assay on the Guthrie card. The disorder is due to a deficiency of the enzyme
phenylalanine hydroxylase, which is necessary to convert phenylalanine to tyrosine. If not detected
by routine screening, there is a build up of phenylalanine and its neurotoxic metabolites. Treatment
is dietary control for life with protein restriction as well as regular monitoring of blood
phenylalanine levels. Essential amino acids are given in a synthetic amino acid drink which is
devoid of phenylalanine. The strictest control is necessary in the first 2 years of life and during
pregnancy. With strict control, developmental outcome is normal. Clinical features include:
- Asymptomatic at birth
- 50% of IQ is lost by the first year
- Hypertonia
- Hyperreflexia
- Seizures
- Urine may have a musty odour
- Progression to severe mental retardation
- Eczematous skin rash

What is meant by a neutral thermal environment?


It refers to an environmental temperature at which oxygen consumption and metabolic rate are
minimal. A rise in environmental temperature above the upper critical temperature leads to a
recruitment of thermoregulatory processes such as sweating and to an increase in body temperature.
A fall in environmental temperature leads to vasoconstriction and metabolism of brown fat which
increases the metabolic rate and oxygen consumption.

Discuss briefly the definition of hypoglycaemia in the newborn infant.


While definitions are not universally agreed, blood glucose levels at or below 2.2 mmol/litre in
infants of all ages is deemed to refer to hypoglycaemia.
(Hyperglycaemia refers to blood glucose above 9.0 mmol/litre and sepsis should be outruled).

List maternal drugs and medications which may cause congenital malformations.
If taken in the first trimester, the following may cause congenital malformations:
- Thalidomide (reduction defect of limbs, cardiac defects)
- Anticonvulsants (microcephaly, cleft lip and/or palate, cardiac defects, NTDs)
- Antibiotics (tetracycline; yellow staining of teeth, aminoglycosides; deafness)
- Steroids (progestogens; masculization of female foetus, diethylstilboesterol; malformations
of female genital tract, testicular malformation, vaginal carcinoma presenting at puberty)
- Warfarin (microcephaly, chondrodysplasia)
- Vitamin A (abnormally shaped ears, micrognathia, cleft palate, cardiac malformations)
- Amphetamines (cleft lip and/or palate, cardiac defects)
- Cocaine (cardiac defects, hydronephrosis, cryptorchidism, defects of the iris, skeletal
defects, cerebral infarction)
- LSD (limb and CNS defects)
Write brief notes on congenital cytomegalovirus (CMV) infection.
Symptomatic congenital infection with CMV is predominantly the result of primary maternal
infection. Congenital infection rate is 0.5% to 2.5%. CMV can also be spread postnatally through
breastmilk. Clinical manifestations of in utero infection include:
- Microcephaly
- Hydrocephaly
- Periventricular cerebral calcification
- Abnormal CSF
- Deafness
- Cerebral palsy
- Seizures
- Microphthalmia
- Chorioretinitis
- Blindness
- Strabismus
- Interstitial pneumonia
- Petechiae
- Purpura
- Anaemia
- Lymphadenopathy
- Hepatosplenomegaly
- Jaundice
- Failure to thrive
Diagnosis of CMV involves an index of suspicion, a clinical picture and a confirmation by lab
studies (culture and serology). Treatment is supportive.
(The clinical picture in postnatal infection is adenopathy, hepatosplenomegaly, pneumonia and
mononucleosis syndrome).

What are the harmful effects of hyperbilirubinaemia?


Harmful effects include kernicterus. Unconjugated bilirubin which is fat-soluble, can pass through
the blood-brain barrier and can cause permanent damage with chronic disability. The basal ganglia
are especially affected. Choreoathetoid cerebral palsy, high tone nerve deafness, enamel hypoplasia
and mental handicap may result. Preterm infants may show more subtle signs of damage with
disorders of both motor and cognitive function. The exact levels at which unconjugated bilirubin
causes brain damage are not known. Acidosis, asphyxia, prematurity and drugs which compete for
albumen bilirubin binding sites predisposes to kernicterus.

What are the main causes of death in infants with congenital malformations?
NTDs, including anencephaly and myelomeningocoele
Cardiac defects, including hypoplastic left heart, pulmonary atresia and TGV
Chromosomal abnormalities, including trisomy 13 and 18
Potters syndrome
Congenital diaphragmatic hernia
What are the main causes of death in premature infants?
RDS
IVH
NEC
Infection
Birth asphyxia
Pneumothorax
Bronchopulmonary dysplasia
Write short notes on congenital hypertrophic pyloric stenosis.
It is the most common condition requiring surgery during the first 2 months of life and is most
common in first-born males. If the mother was affected, it occurs in 5% of siblings and 25% of
offspring. It presents as a hungry baby with non-bilious vomiting beginning between week 2 and 4
of life. The diagnosis is made by palpating a pyloric tumour which may be olive-shaped and to the
right of the umbilicus. Peristaltic waves may be visible as the infant feeds. The infants are often
dehydrated with a hypokalaemic metabolic alkalosis. Diagnosis can be confirmed on ultrasound.
Pyloromyotomy (Ramstedts operation) is the treatment of choice once dehydration and electrolyte
abnormalities are corrected.

Write short notes on pyloric stenosis in infancy.


Infantile hypertrophic pyloric stenosis is a common cause of vomiting in young infants. Effortless
and non-bilious vomiting in an infant 3 to 5 weeks of age is the typical presentation of infantile
pyloric stenosis. The condition is caused by hypertrophy of the circular muscle of the pylorus and to
a lesser extent the longitudinal muscle. An almost complete gastric outlet obstruction may result.
The incidence is 2 in 1000 live births with a male dominance of 4 to 1. Breastfed infants and those
with blood group A are less affected. Genetic factors also play a role, as there is a 20% risk of
pyloric stenosis in the son of an affected mother and 7% risk in her daughters. Urological
abnormalities are the most common type of anomalies though are very rare. Diagnosis should be
suspected in any infant with a history of vomiting, hunger and weight loss. Gastro-oesophageal
reflux and poor feeding techniques should be ruled out through the history. These infants may
present with a short 3 to 5 day history, may have visible gastric peristalsis passing from left to right
in the upper abdomen and a palpable pyloric mass. Diagnosis is usually confirmed at a test feed.
Venous blood samples will show a hypochloraemic, hypokalaemic metabolic alkalosis due to loss of
gastric acid. Management includes correcting the fluid and electrolyte imbalance followed by
surgery. Feeding can be commenced 24 hours postoperatively.

What are differential diagnoses of an infant who is vomiting?


Gastro-oesophageal reflux
Feeding difficulties
Sepsis
Congenital adrenal insufficiency

Write a short note on coarctation of the aorta.


It is a localized narrowing of the descending aorta close to the site of the ductus arteriosus. It may
present with heart failure if severe. The femoral pulses are impalpable and the blood pressure is
elevated in the upper body. Surgical treatment is required.

What are causes of cyanotic congenital heart disease?


Transposition of the great arteries (TGA)
- Aorta arises from the right ventricle and the pulmonary artery from the left
- Presents with early cyanosis and cardiac failure, often with no murmur
- Prostaglandins are given to keep the ductus arteriosus open
- Nearly always presents in the first few days of life
- Emergency septostomy is performed
Tetralogy of Fallot
- VSD
- Overriding aorta
- Right ventricular hypertrophy
- Pulmonary stenosis
Tricuspid atresia/stenosis
Pulmonary atresia/stenosis
What is special about colostrum?
Colostrum is thick and viscous and is the milk produced in the first 5 days and it contains large
amounts of protein, IgA, immunoglobulins and lysozyme. It provides immunity within minutes of
birth.

What is a caput succedaneum?


It is an oedematous thickening of the scalp of a newborn, common over the occiput if the
presentation during labour and delivery was cephalic.

What is plagiocephaly?
It is a parallelogram-shaped head in a newborn with a usually seen flattening of the occipital region
on 1 side. It can be due to the posture in utero or may be acquired after birth.

What initiates the first breath following birth?


Delivery from a warm and weightless environment
Manipulation during birth
Clamping of the cord
Sensory stimulation after delivery (sound, touch, temperature, gravity)
A mild degree of asphyxia and acidosis sensitises chemoreceptors to increase the ventilatory
drive

Discuss briefly the difference between intrauterine growth retardation and small for dates.
While IUGR refers to the failure of the foetus to reach its growth potential due to pathological
factors (maternal, placental or foetal), small for dates or small for gestational age refers to infants
whose birthweight is less than the 10th percentile for gestational age.

What is the fluid requirement of a normal term infant at age 1 week? How often is a normal
term infant usually fed each day during the first week of life?
The infant would feed about 7 to 8 times per day with a fluid requirement of 150 ml/kg/day.

Describe the incidence of mental handicap in the population.


Approximately 3% of the population have an IQ level below 70, mostly presenting as a mild or
moderate learning disability. 3.5 in 1000 of the population have a severe learning disability. Of
these, 85% have a recognizable cause for their deficit:
- 30% - chromosomal
- 30% - other recognizable causes like meningitis
- 25% - associated with cerebral palsy
- 15% - no apparent cause
The opposite is true of mild and moderate learning disabilities:
- 5% - recognizable cause or have associated cerebral palsy
- 95% - unknown origin (possibly polygenic inheritance)

What is the significance of an absent Moro reflex?


An absent or exaggerated Moro reflex is associated with intraventricular haemorrhage.

What is the significance of oligohydramnios to the newborn infant?


Lack of foetal urine may be cause
Responsible for secondary anomalies like:
o Urethral atresia
o Renal hypoplasia
o Bilateral renal agenesis
May cause postural talipes calcaneovalgus and facial asymmetry

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