Chapter 10 and 51: Fetal Development and Genetics Care of A Child With A Genetic Disorder

Chapter 10 and 51
Fetal Development and Genetics

Care of a child with a Genetic Disorder
Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins
Key Terms
Allele
Blastocyst
Ductus venosus
Ductus arteriosus
Embryonic Stage
Fertilization
Fetal stage
Foramen Ovale
Gene
Key Terms
Inborn errors of Metabolism
Genotype
Mutation
Phenotype
Placenta
Preembryonic Stage
Homozygous
Heterozygous
Key Terms
Mosaicism
Monosomies
Morula
Trisomies
Trisomy 21
Turners Syndrome
Fragile X
Stages of Fetal Development

Preembryonic stage: fertilization through 2nd week
Fertilization; cleavage; morula
Blastocyst and trophoblast (Box 10.1)
Implantation
Embryonic stage: end of 2nd week through 8th week
Basic structures of major body organs and main
external features (Table 10.1)
Fetal stage: end of the 8th week until birth (Table 10.1)
Embryonic Layers
Ectoderm: forms the central nervous system, special
senses, skin and glands
Mesoderm: forms skeletal, urinary, circulatory, and
reproductive organs
Endoderm: forms respiratory system, liver, pancreas, and
digestive system
Functions of the Placenta

Serving as the interface between the mother and fetus
Making hormones to control the physiology of the mother
Protecting the fetus from immune attack by the mother
Removing waste products from the fetus
Inducing the mother to bring more food to the placenta
Producing hormones that mature into fetal organs
Hormones Produced by the Placenta

hCG
Human placental lactogen (hPL) or human
choronic somatomammotropin (hCS)
Estrogen
Progesterone
Relaxin
Umbilical Cord
Formed from the amnion
Lifeline from the mother to the growing embryo
Contains one large vein and two small arteries
Whartons jelly surrounds the vein and arteries to
prevent compression
At term, the average umbilical cord is 22 inches long
and about 1 inch wide
Role of Amniotic Fluid

Helps maintain a constant body temperature for the fetus
Permits symmetric growth and development
Cushions the fetus from trauma
Allows the umbilical cord to be relatively free of
compression
Promotes fetal movement to enhance musculoskeletal
development
Fetal Circulation
Blood from the placenta to and through the fetus
and then back to placenta (see Figure 10.9)
Three shunts during fetal life:
Ductus venosus: connects the umbilical vein to
the inferior vena cava
Ductus arteriosus: connects the main pulmonary
artery to the aorta
Foramen ovale: anatomic opening between the
right and left atrium
Fetal Circulation
Inheritance
Genes: individual units of heredity of all traits
Organized into long segments of deoxyribonucleic acid
(DNA) that occupies a specific location on a chromosome
Determination of a particular characteristic
in an organism; physical and mental characteristics of
humans
A chromosome: long, continuous strand of DNA carrying
genetic information
Karyotype: pictorial analysis of number, form, and size of
chromosomes
Karyotype
Pictorial analysis of number, form, and size of an
individuals chromosomes
Commonly uses white blood cells and fetal cells in
amniotic fluid
Chromosomes are numbered from largest to
smallest, 1 to 22, with sex chromosomes designated
by X and Y
Karyotype
Patterns of Inheritance
Mendelian or Monogenic Disorders
Autosomal Dominant Inheritance
Autosomal Recessive Inheritance
X-linked Inheritance
X-linked Recessive Inheritance
X-linked Dominant Inheritance
Multifactorial Disorders
Nontraditional Inheritance
Autosomal Dominant Inheritance
Autosomal Dominant Genetic Disorders

Neurofibromatosis
Huntington disease
Achondroplasia
Polycystic kidney disease
Autosomal Recessive Inheritance
Autosomal Recessive Genetic Disorders

Cystic fibrosis
Phenylketonuria
Tay-Sachs
Sickle cell disease
X-linked Recessive Inheritance
X-Linked Recessive Genetic Disorders

Hemophilia
Color blindness
Duchenne muscular dystrophy
X-linked Dominant Inheritance
Fragile X Syndrome
Behavioral Problems Associated With

Fragile X Syndrome
Attention deficits
Hand flapping and biting
Hyperactivity
Shyness and social isolation
Low self-esteem
Gaze aversion
Multifactorial Genetic Disorders

Cleft lip and cleft palate
Spina bifida
Pyloric stenosis
Clubfoot
Congenital hip dysplasia
Cardiac defects
Cleft lip and Cleft palate
Clubfoot
Pyloric stenosis
Question
Is the following statement True or False?
Males are more commonly affected by X-linked
recessive disorders.
a. True
b. False
Answer
a. True
Most X-linked disorders demonstrate a recessive pattern of
inheritance, and males are more commonly affected
because a male has only one X chromosome and all the
genes on his X chromosome will be expressed.
Chromosomal Abnormalities
Abnormalities of Chromosome Number
Monosomies; trisomies
Polyploidy
Abnormalities of Chromosome Structure
Deletions
Inversions
Translocations
Sex Chromosome Abnormalities
Types of Chromosomal Abnormalities

Structural abnormalities
Cri du chat syndrome
Fragile X syndrome
Sex chromosome abnormalities
Turner syndrome
Klinefelter syndrome
Nursing Roles and Responsibilities

Beginning the preconception counseling process and
referring for further genetic information
Taking a family history
Scheduling genetic testing
Explaining the purposes, risks/benefits of all
screening and diagnostic tests (see Laboratory and
Diagnostic Tests 10.1)
Answering questions and addressing concerns
Nursing Roles and Responsibilities

(contd.)
Discussing costs, benefits, and risks of using health
insurance, and potential risks of discrimination
Recognizing ethical, legal, and social issues
Safeguarding privacy and confidentiality
Monitoring emotional reactions after receiving
information
Providing emotional support
Referring to appropriate support groups
Significant Findings in Medical History of a

Child With a Genetic Disorder
Maternal age older than 35 years or paternal age older than 50
Repeated premature births, breech delivery
Abnormalities found on ultrasound or in prenatal blood
screening tests
Amniotic fluid abnormalities
Multiple births
Exposure to medications and known teratogens
Decreased fetal movement
Downs Syndrome
Trisomy 21 (Down Syndrome)

Cause
Presence of all or part of an extra 21st chromosome
Characteristics
Some degree of intellectual disability
Characteristic facial features
Other health problems (e.g., cardiac defects, visual
and hearing impairment, intestinal malformations,
and an increased susceptibility to infections)
Trisomy 21(Down Syndrome)

DX: Often dx prenatally with prenatal screening exams
a)Aminocentisis
b)Chorionic Villi Sampling
c)Triple/quadruple screen
If not dx prenatally common physical characteristics aid
in the dx within the first few days of life . SEE BOX 51.3
Laboratory and Diagnostic Tests for Down

Syndrome
Echocardiogram: to detect cardiac defects
Vision and hearing screening: to detect vision and
hearing impairments
Thyroid hormone level: to detect thyroid disease
Cervical radiographs: to assess for atlantoaxial instability
Ultrasound: to assess for gastrointestinal malformations
Down Syndrome Health Care Guidelines
Adapted from American Academy of Pediatrics,

http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442
Turners Syndrome
Physical Characteristics of Turner

Syndrome
Webbed neck
Short stature
Low posterior hairline
Wide-spaced nipples
Edema of the hands and feet
Amenorrhea
No development of secondary sex characteristics
Sterility
Perceptual and social skill difficulties
Nursing Management
Support Family
Need to understand that short stature and infertility
are likely.
Intellectual disability is unlikely, but some learning
disabilities may be present.
Emphasize that with medical supervision and support, girls
with Turner syndrome may lead healthy satisfying lives.
Turner Syndrome Society of the United States
Inborn Errors of Metabolism and

Associated Odor
Adapted from Rezvani, I. (2007). An approach to inborn errors of metabolism. In R. M. Kliegman, R. E.

Behrman, H. B. Jenson, & B. F. Stanton (Eds.), Nelsons textbook of pediatrics (18th ed., pp. 527529).
Philadelphia: Saunders; and Kaye, C. I., & the Committee on Genetics. (2011). Newborn screening fact
sheets. Pediatrics, 118(3), e934e963. doi:10.1542/peds.2006-1783.
Inborn Errors of Metabolism

PKU- deficiency in a liver enzyme leading to the inability to
process the essential amino acid phenylalanine properly.
The accumulation of this amino acid leads to brain damage
unless PKU is detected soon after birth and treated.
Incidence: less than 1 in 25,000
Clinical manifestations: no symptoms at birth- ID at PKU
screening done 48 hours after first feeding and repeated in
NB exam in Pediatrians Office. Child may have a mousy or
musty odor.
Glactosemia
PKU
Management low pheylalanine diet which is found

mostly in protein containing foods such as meat and
milk( including breast milk and formula)
Galactosemia
Deficiency in the liver enzyme needed to convert
galactose, the breakdown product of lactose, which is
commonly found in dairy products, into glucose.
Galactose accumulation leads to damage to vital organs.
Incidence: less than 1 in 50,000
Clinical manifestations: No symptoms at birth. If
undiagnosed, NB will have jaundice, diarrhea and
vomiting and will not gain weight. If untreated can lead
to liver disease, blindness, severe intellectual disability
and death.
Galactosemia
Management- Ingestion of galactose can produce sepsis
in the affected child; therefore, septic work-up and
antibiotics may be necessary in a child if galactose
injection has occurred.
Elimination of galactose and lactose from the diet is the
only treatment. Therefore, milk and dairy products will be
eliminated for life.
Question
The nurse is assessing a child for a genetic disorder and
notes that a musty odor emanates from the child. What
disorder would the nurse suspect?
a. phenylketonuria
b. maple syrup urine disease
c. tyrosinemia
d. trimethylaminuria
Answer
a. phenylketonuria. A musty odor emanating from the
child is associated with phenylketonuria.
Rationale: A maple syrup odor is associated with maple
syrup urine disease, a cabbage-like odor is associated
with tyrosinemia, and a rotting fish smell is associated
with trimethylaminuria.
Review
After teaching a group of students about fertilization, the
instructor determines that the teaching was successful
when the group identifies which as the usual site of
fertilization?
a. Fundus of the uterus
b. Endometrium of the uterus
c. Distal portion of fallopian tube
d. Follicular tissue of the ovary
Review
The correct response to this question is C, because scientists
have determined that conception/fertilization occurs in the
upper portion of the fallopian tube. A is an incorrect response
because this is where implantation takes place after
fertilization has occurred. B is an incorrect response because
this describes the inner lining of the uterus, where
implantation takes place; not where fertilization of the ovum
and sperm occur. D is an incorrect response because the sperm
does not travel outside the fallopian tube to the ovary, but
rather meets the ovum for purposes of fertilization in the
fallopian tube
Review
A client comes to the clinic for pregnancy testing. The
nurse explains that the test detects the presence of
which hormone?
a. hPL
b. hCG
c. FSH
d. TSH
Review
B- hCG
Review
The nurse is counseling a couple, one of whom is affected
by an autosomal dominant disorder. They express
concerns about the risk of transmitting the disorder. What
is the best response by the nurse regarding the risk that
their baby may have for the disease?
a. You have a one in four (25%) chance.
b. The risk is 12.5%, or a one in eight chance.
c. The chance is 100%.
d. Your risk is 50%, or a one in two chance.
Review
The correct response is D. Autosomal dominant
inheritance occurs when a single gene in the
heterozygous state is capable of producing the
phenotype. The affected person generally has an affected
parent and an affected person generally has a 50%
chance of passing the abnormal gene to each of his or
her children
Review
A nurse is working in a womens health clinic. Genetic
counseling would be most appropriate for the woman
who:
a. Just had her first miscarriage at 10 weeks
b. Is 30 years old and planning to conceive
c. Has a history that reveals a close relative with Down
syndrome
d. Is 18 weeks pregnant with a normal triple screen
result
Review
The correct response is C. The family history plays a
critical role in identifying genetic disorders. A history of a
previous child, parents or close relative with an inherited
disease, congenital abnormalities, metabolic disorders,
developmental disorders or choromosomal abnormalities
can indicate an increased risk of genetic disorders,
therefore referral to genetic counseling is appropriate.
Review
A child born with a single transverse palmar crease, a
short neck with excessive skin at the nape, a depressed
nasal bridge, and cardiac defects is most likely to have
which autosomal abnormality?
a. Trisomy 21
b. Trisomy 18
c. Trisomy 14
d. Trisomy 13
Review
The correct response is a. These are some of the
characteristics of trisomy 21 (Down syndrome). Trisomy
21 is also associated with some degree of mental
retardation and other health problems such as cardiac
defects, visual and hearing impairment, intestinal
malformations, and an increased susceptibility to
infections.
Review
The nurse is caring for a child with Turner syndrome
admitted to the unit for treatment of a kidney infection.
What characteristics associated with this syndrome may
the nurse expect to find upon assessment?
a. Microcephaly, polydactyly
b. Low-set ears, cleft lip
c. Short stature, webbed neck
d. Gynecomastia, taller than average
Review
The correct response is c. A child with Turner syndrome
presents with characteristic features, such as short
stature and a webbed neck. Also seen in children with
this syndrome are a low posterior hairline, wide-spaced
nipples, edema of the hands and feet, amenorrhea, no
development of secondary sex characteristics, sterility,
and perceptual and social skill difficulties. Gynecomastia
and taller-than-average height are characteristics seen in
children with Klinefelters syndrome.
Questions?

Chapter 10 and 51: Fetal Development and Genetics Care of A Child With A Genetic Disorder

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Chapter 10 and 51

Fetal Development and Genetics

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Stages of Fetal Development

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Functions of the Placenta

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Hormones Produced by the Placenta

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Role of Amniotic Fluid

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Autosomal Dominant Inheritance

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Autosomal Dominant Genetic Disorders

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Autosomal Recessive Inheritance

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Autosomal Recessive Genetic Disorders

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

X-linked Recessive Inheritance

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X-Linked Recessive Genetic Disorders

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

X-linked Dominant Inheritance

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Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Behavioral Problems Associated With

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Multifactorial Genetic Disorders

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Cleft lip and Cleft palate

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Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Congenital hip dysplasia

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Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Types of Chromosomal Abnormalities

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Nursing Roles and Responsibilities

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Nursing Roles and Responsibilities

Significant Findings in Medical History of a

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Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Trisomy 21 (Down Syndrome)

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Trisomy 21(Down Syndrome)

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Laboratory and Diagnostic Tests for Down

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins

Down Syndrome Health Care Guidelines

Copyright 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins