Chapter 27: Nursing Care Of The Child With An Alte
Chapter 27: Nursing Care of the Child With an Alte
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Chapter 27: Nursing Care of the Child With an Alteration in Genetics
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Chapter 27: Nursing Care of the Child With an Alte
Institution
Chapter 27: Nursing Care Of The Child With An Alte
A woman who has a recessive gene for sickle cell anemia marries a man who also has a recessive gene for sickle cell anemia. Their first child is born with sickle cell anemia. The chance that their second child will develop this disease is:
1 in 4.
Autosomal recessive inherited diseases occur at...
chapter 27 nursing care of the child with an alteration in genetics
a woman who has a recessive gene for sickle cell anemia marries a man who also has a recessive gene for sickle cell anemia their f
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Chapter 27: Nursing Care of the Child
With an Alteration in Genetics
A woman who has a recessive gene for sickle cell anemia marries a man who also has
a recessive gene for sickle cell anemia. Their first child is born with sickle cell anemia.
The chance that their second child will develop this disease is: - correct answer 1 in 4.
Autosomal recessive inherited diseases occur at a 1-in-4 incidence in offspring. The
possibility of a chance happening does not change for a second pregnancy.
A pregnant client has heard about Down syndrome and wants to know about the risk
factors associated with it. What would the nurse include as a risk factor? - correct
answer Advanced maternal age
Advanced maternal age is one the most important factors that increases the risk of an
infant being born with Down syndrome. Down syndrome is not associated with
advanced paternal age, recurrent miscarriages, or family history of Down syndrome.
The results of a woman's quadruple marker screen show that her alpha-fetoprotein
(AFP) blood level is more than twice the value of the mean for that gestational age. The
nurse recognizes that this finding is most strongly associated with: - correct answer A
neural tube disorder.
AFP in maternal blood is elevated more than twice the value of the mean for the
gestational age if a neural tube disorder such as myelomeningocele is present; it is
decreased in amount if the fetus has a chromosomal disorder such as trisomy 21.
Lower than normal levels of unconjugated estriol may also indicate a woman is at high
risk for having a baby with Down syndrome. An elevated level of human chorionic
gonadotropin (hCG) indicates presence of a trisomy disorder
Cystic fibrosis is an example of which type of inheritance? - correct answer Autosomal
recessive
Cystic fibrosis is an autosomal recessive inherited condition. Huntington disease would
be an example of an autosomal dominant inherited condition. Hemophilia is an X-linked
recessive inherited condition. Cleft lip is a multifactorial inherited condition.
The nurse prepares a couple to have a karyotype performed. What describes a
karyotype? - correct answer A visual presentation of the chromosome pattern of an
individual
A karyotype is a photograph of a person's chromosomes aligned in order.
A pregnant woman has a child at home who has been diagnosed with
neurofibromatosis She asks the nurse what she should look for in the new baby that
would indicate that it also has neurofibromatosis. What sign should the nurse instruct
the woman to look for in the new baby? - correct answer Café-au-lait spots
, Chapter 27: Nursing Care of the Child
With an Alteration in Genetics
Physical assessment may provide clues that a particular genetic condition is present in
a person and family. Family history assessment may offer initial guidance regarding the
particular area for physical assessment. For example, a family history of
neurofibromatosis type 1, an inherited condition involving tumors of the central nervous
system, would prompt the nurse to carry out a detailed assessment of closely related
family members. Skin findings such as café-au-lait spots, axillary freckling, or tumors of
the skin (neurofibromas) would warrant referral for further evaluation, including genetic
evaluation and counseling. A family history of familial hypercholesterolemia would alert
the nurse to assess family members for symptoms of hyperlipidemias (xanthomas,
corneal arcus, abdominal pain of unexplained origin). As another example, increased
urination could indicate type 1 diabetes. Projectile vomiting is indicative of pyloric
stensosis
Upon assessment, the nurse notices that the infant's ears are low-set. What is the
priority action by the nurse? - correct answer Continue to assess the infant to look for
other abnormalities
Continue to assess for major and minor congenital anomalies because major anomalies
may require immediate medical attention. Three or more minor anomalies increase the
chance of a major anomaly. Low-set ears can be a symptom of a variety of genetic
disorders. Mentioning Down syndrome without further investigation can cause undue
stress in parents. The infant may not need cardiac monitoring; further assessment will
provide clues. Diagnostic testing is needed to determine whether the child is afflicted
with a metabolic disorder
A gene that is expressed when paired with another gene for the same trait is called: -
correct answer Dominant.
A dominant gene is one that will be expressed when paired with a like gene.
The nurse is caring for a newborn girl with galactosemia. Which intervention will be
necessary for her health? - correct answer Eliminating dairy products from the diet
Galactosemia is a deficiency in the liver enzyme needed to convert galactose into
glucose. This means the child will have to eliminate milk and dairy products from her
diet for life. Adhering to a low phenylalanine diet is an intervention for phenylketonuria.
Eating frequent meals and never fasting is an intervention for medium-chain acyl-CoA
dehydrogenase deficiency. Maple sugar urine disease requires a low-protein diet and
supplementation with thiamine.
A woman has recently given birth to an infant with Down syndrome. She and her
husband knew ahead of time, based on genetic testing, that the child would have this
disorder. They are now asking the nurse for input on how this will affect their parenting.
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