Question 1

Sonographic findings that may suggest a chromosomal anomaly include all of the following except:&#10;A) reduced movement.&#10;B) hand clenching.&#10;C) thickened nuchal fold.&#10;D) omphalocele.

Accepted Answer

Reduced movement is not specifically associated with chromosomal anomalies but can be a sign of other fetal issues or distress. Hand clenching, thickened nuchal fold, and omphalocele are more directly associated with certain chromosomal anomalies.

Question 2

Amniocentesis may be used for all of the following except:&#10;A) analysis of fetal chromosomes.&#10;B) prediction of Rh isoimmunization.&#10;C) documentation of lung maturity.&#10;D) prediction of cardiac abnormalities.

Accepted Answer

Amniocentesis is a medical procedure used for prenatal diagnosis of chromosomal abnormalities and fetal infections, and also for sex determination, in which a small amount of amniotic fluid, which contains fetal tissues, is sampled from the amniotic sac surrounding a developing fetus. It can be used for analysis of fetal chromosomes (A), prediction of Rh isoimmunization (B), and documentation of lung maturity (C). However, it is not used for the prediction of cardiac abnormalities (D), as these are typically assessed through fetal echocardiography or other imaging techniques.

Question 3

Chorionic villus sampling (CVS) may include all of the following advantages except:&#10;A) it is performed in the first trimester.&#10;B) the results are available within 48 hours.&#10;C) the results are available within 1 week.&#10;D) early results allow more options for parents.

Accepted Answer

Chorionic villus sampling (CVS) results typically take about 1 week to process, not 48 hours, making option B incorrect. The other options are advantages of CVS.

Question 4

Anencephaly is an example of which one of the following conditions?&#10;A) Aneuploidy&#10;B) X-linked disorder&#10;C) Multifactorial&#10;D) Mosaicism

Accepted Answer

Anencephaly is a neural tube defect that is considered a multifactorial condition, meaning it is caused by a combination of genetic and environmental factors.

Question 5

High levels of AFP indicate all of the following except:&#10;A) anencephaly.&#10;B) Down syndrome.&#10;C) open spina bifida.&#10;D) gastroschisis.

Accepted Answer

High levels of alpha-fetoprotein (AFP) are typically associated with neural tube defects such as anencephaly and open spina bifida, and abdominal wall defects like gastroschisis. Down syndrome, however, is associated with lower levels of AFP in maternal serum.

Question 6

AFP is found in all of the following fetal structures except the:&#10;A) spine.&#10;B) liver and gastrointestinal tract.&#10;C) brain.&#10;D) kidneys.

Accepted Answer

Alpha-fetoprotein (AFP) is a protein produced mainly by the fetal liver and yolk sac, and also by the gastrointestinal tract, but not by the fetal brain. It serves various functions, including transport of substances in the fetal plasma and involvement in immune response. The absence of AFP production in the brain makes option C the correct answer.

Question 7

An early noninvasive means of assessing the risk of aneuploidy is which one of the following?&#10;A) Facial analysis&#10;B) Nuchal translucency&#10;C) Fetal position&#10;D) Biophysical profile

Accepted Answer

Nuchal translucency measurement, which is the fluid collection observed at the back of the fetal neck during the first trimester ultrasound, is an early noninvasive means of assessing the risk of aneuploidy, including conditions such as Down syndrome.

Question 8

The optimal collection site in an amniocentesis includes all of the following except:&#10;A) away from the maternal midline.&#10;B) away from the fetus.&#10;C) away from the umbilical cord.&#10;D) away from the central portion of the placenta.

Accepted Answer

Amniocentesis is typically performed away from the fetus, umbilical cord, and central portion of the placenta to avoid injury, but the maternal midline is not a specific consideration for the collection site.

Question 9

A large cystic hygroma, hydrops, and coarctation of the aorta may be seen in a fetus with which one of the following?&#10;A) Trisomy 13&#10;B) Trisomy 18&#10;C) Trisomy 21&#10;D) Turner syndrome

Accepted Answer

Turner syndrome, characterized by a 45,XO karyotype, can present in fetuses with a large cystic hygroma, hydrops, and coarctation of the aorta. These are common prenatal ultrasound findings associated with Turner syndrome.

Question 10

Cordocentesis is more commonly used for which one of the following procedures?&#10;A) Chromosomal analysis&#10;B) Analysis of fetal lung maturity&#10;C) Cardiovascular analysis&#10;D) Guidance for transfusions to treat fetal isoimmunization

Accepted Answer

Cordocentesis is primarily used for transfusions to treat fetal isoimmunization, as it allows direct access to the fetal circulation for blood sampling and transfusion.

Question 11

The sonographic findings of increased nuchal thickening, shortened femurs, cardiac anomalies, and pyelectasis may be seen in which one of the following?&#10;A) Trisomy 13&#10;B) Trisomy 18&#10;C) Trisomy 21&#10;D) Turner syndrome

Accepted Answer

The answer of The sonographic findings of increased nuchal thickening,...

Question 12

Pregnancy-associated plasma protein A (PAPP-A) levels:&#10;A) peak from 16 to 20 weeks of gestation.&#10;B) increase throughout pregnancy.&#10;C) decline after 24 weeks of gestation.&#10;D) peak from 15 to 18 weeks of gestation.

Accepted Answer

The answer of Pregnancy-associated plasma protein A (PAPP-A) levels:&#10;A) peak...

Question 13

AFP is produced in early gestation by which one of the following structures?&#10;A) Liver&#10;B) Brain&#10;C) Yolk sac&#10;D) Placenta

Accepted Answer

The answer of AFP is produced in early gestation by...

Question 14

The sonographic findings of cranial anomalies, choroid plexus cysts, facial abnormalities, and rocker bottom feet may be seen in which one of the following?&#10;A) Trisomy 13&#10;B) Trisomy 18&#10;C) Trisomy 21&#10;D) Turner syndrome

Accepted Answer

The answer of The sonographic findings of cranial anomalies, choroid...

Question 15

The quadruple screen evaluates all of the following markers except:&#10;A) AFP.&#10;B) human chorionic gonadotropin (hCG).&#10;C) unconjugated estriol.&#10;D) fetal lung maturity.

Accepted Answer

The answer of The quadruple screen evaluates all of the...

Question 16

A common reason for an elevated level of maternal serum AFP (MSAFP) is which one of the following?&#10;A) Neural tube defect&#10;B) Abdominal wall defect&#10;C) Chromosomal abnormality&#10;D) Incorrect dates

Accepted Answer

The answer of A common reason for an elevated level...

Question 17

The most common aneuploid condition is which one of the following?&#10;A) Trisomy 13&#10;B) Trisomy 18&#10;C) Trisomy 21&#10;D) Turner syndrome

Accepted Answer

The answer of The most common aneuploid condition is which...

Question 18

Reasons to perform an amniocentesis include all of the following except:&#10;A) maternal age.&#10;B) multiple gestations.&#10;C) previous child with chromosomal abnormality.&#10;D) abnormal alpha-fetoprotein (AFP) level.

Accepted Answer

The answer of Reasons to perform an amniocentesis include all...

Question 19

Holoprosencephaly and proboscis are most likely to be found in a fetus with which one of the following?&#10;A) Trisomy 13&#10;B) Trisomy 18&#10;C) Trisomy 21&#10;D) Turner syndrome

Accepted Answer

The answer of Holoprosencephaly and proboscis are most likely to...

Question 20

An abnormality in the number of chromosomes is called which one of the following?&#10;A) Aneuploidy&#10;B) X-linked disorder&#10;C) Multifactorial&#10;D) Mosaicism

Accepted Answer

The answer of An abnormality in the number of chromosomes...

Question 21

Beta-hCG can be assessed in maternal serum in the first trimester to evaluate for an increased risk of which one of the following anomalies?&#10;A) Triploidy&#10;B) Turner syndrome&#10;C) Down syndrome&#10;D) Meckel-Gruber syndrome

Accepted Answer

The answer of Beta-hCG can be assessed in maternal serum...

Question 22

After amniocentesis, the sonographer should demonstrate and document which one of the following?&#10;A) Amniotic fluid volume&#10;B) Cervical length&#10;C) Placenta location&#10;D) Fetal cardiac activity

Accepted Answer

The answer of After amniocentesis, the sonographer should demonstrate and...

Question 23

Continuous monitoring during an amniocentesis with ultrasound is invaluable in patients with which one of the following abnormalities?&#10;A) Posterior placenta location&#10;B) Polyhydramnios&#10;C) Placenta previa&#10;D) Premature rupture of membranes

Accepted Answer

The answer of Continuous monitoring during an amniocentesis with ultrasound...

Question 24

Low AFP levels have been found in which one of the following?&#10;A) Fetus older than expected&#10;B) Anencephaly&#10;C) Fetus younger than expected&#10;D) Omphalocele

Accepted Answer

The answer of Low AFP levels have been found in...

Question 25

MSAFP levels increase with advancing gestational age and peak at _____ weeks of gestation.&#10;A) 14 to 16&#10;B) 15 to 18&#10;C) 18 to 20&#10;D) 16 to 20

Accepted Answer

The answer of MSAFP levels increase with advancing gestational age...

Deck 55: Prenatal Diagnosis of Congenital Anomalies