Pregnancy and Prenatal Testing & Newborn Screening and inborn errors of metabolism Flashcards
- The most severe form of hemolytic disease of the newborn (HDN) is referred to as:
a. respiratory distress syndrome (RDS).
b. ectopic pregnancy.
c. jaundice.
d. erythroblastosis fetalis
d. erythroblastosis fetalis
- In a developing fetus, the major blood-forming organ
until 24 weeks’ gestation is the:
a. bone marrow.
b. liver.
c. lung.
d. kidney.
b. liver.
- Preeclampsia is diagnosed by the presence of which findings?
a. Hypertension and proteinuria ≥300 mg of protein in
24-hour urine
b. Hypertension and proteinuria ≥100 mg of protein in
24-hour urine
c. Hypertension and new onset of platelet count
>100,000/μL
d. Hypertension and decreased liver transaminases
a. Hypertension and proteinuria ≥300 mg of protein in
24-hour urine
- The composition of amniotic fluid is most typically like
that of which one of the following?
a. Extracellular fluid
b. Intracellular fluid
c. Cerebrospinal fluid
d. Blood
a. Extracellular fluid
- Hemolytic disease of the newborn (HDN) is caused by:
a. lack of folic acid in the maternal diet.
b. increased formation of fetal hemoglobin (Hb F).
c. maternal antibodies against fetal erythrocytes.
d. blockage of placental transfer of immunoglobulin A
(IgA) antibodies
c. maternal antibodies against fetal erythrocytes.
- What is the function of the hormone hCG (human chorionic gonadotropin) in pregnancy?
a. It signals the corpus luteum to produce progesterone
to maintain pregnancy.
b. It inhibits the production of estrogen and progesterone by the ovary
c. It stimulates the production of estrogen to promote
uterine growth.
d. Its concentration peaks near birth, which helps initiate the birth process
a. It signals the corpus luteum to produce progesterone
to maintain pregnancy.
- Which of the following best describes changes in concentrations of placental hormones during pregnancy?
a. Estrogen peaks in the first trimester, and then remains stable throughout gestation.
b. Estrogen concentration increases throughout gestation.
c. hCG concentration is stable throughout gestation.
d. Progesterone concentration declines throughout
gestation
b. Estrogen concentration increases throughout gestation.
- The integrated screen for prediction of Down syndrome
risk includes testing for:
a. PAPP-A in the first trimester and hCG, AFP, and uE3
in the second trimester.
b. AFP, hCG, uE3, and inhibin A in the second trimester.
c. PAPP-A and nuchal translucency in the first trimester and AFP, hCG, uE3, and inhibin A in the second
trimester.
d. hCG in the first trimester and nuchal translucency,
AFP, and PAPP-A in the second trimester.
c. PAPP-A and nuchal translucency in the first trimester and AFP, hCG, uE3, and inhibin A in the second
trimester.
- The majority of waste produced by a fetus is in the
amniotic fluid. Which one of the following structures is
responsible for removal of this waste from the amniotic
fluid?
a. Fetal kidneys
b. Fetal liver
c. Fetal lungs
d. Placenta
d. Placenta
- When a fertilized egg implants in a location other than
the body of the uterus, the condition is called:
a. Down syndrome.
b. spina bifida.
c. ectopic pregnancy.
d. hyperemesis gravidarum.
c. ectopic pregnancy.
- An inherited disorder that affects the conversion of nutrients into energy is referred to as a(n):
a. aminoacidopathy.
b. autosomal recessive disorder.
c. inborn error of metabolism (IEM).
d. hemolytic disease of a newborn
c. inborn error of metabolism (IEM).
- Tandem mass spectrometry (MS/MS) involves:
a. an ultraviolet laser to ionize small amounts of matrix
and analyte that are directed into the mass analyzer.
b. screening a large number of infants for disorders of
amino acid metabolism using different growth antagonists.
c. an ion trap designed to trap ions in three dimensions
instead of two dimensions.
d. assessment of the mass-to-charge ratio of a chemical.
d. assessment of the mass-to-charge ratio of a chemical.
- An inborn disorder of metabolism that is triggered by
prolonged fasting and/or acute illness and that is confirmed by abnormal acylcarnitine concentrations is:
a. galactosemia.
b. medium-chain acyl-CoA dehydrogenase (MCAD)
deficiency.
c. phenylketonuria (PKU).
d. homocystinuria
b. medium-chain acyl-CoA dehydrogenase (MCAD)
deficiency.
- Deficiency of an enzyme that results in excess of monosaccharides in the blood of a newborn leads to a specific
disorder of metabolism. An example of this type of disorder would be:
a. galactosemia.
b. medium-chain acyl-CoA dehydrogenase (MCAD)
deficiency.
c. phenylketonuria (PKU).
d. glutaric acidemia type I (GAI)
a. galactosemia.
- The disorder that is identified by increased blood glutarylcarnitine on newborn screening is characterized by
dysfunctional metabolism of:
a. hydroxylysine and phenylalanine.
b. tyrosine and tryptophan.
c. tryptophan, hydroxylysine, and lysine.
d. cystine and hydroxylysine
c. tryptophan, hydroxylysine, and lysine.
