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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
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.
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.
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 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)
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.
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.
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
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
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 the components of the Apgar score. Which is the most important?
Heart rate (most important)
Respiration (most important)
Tone
Response to stimuli
Colour
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
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
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
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)
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
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)
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
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.
A mother wants to have her first baby at home. List the points for and against you would put
to her.
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.
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)
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 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.
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.
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.