Prenatal Diagnosis and Genetic Counseling Practice Questions

Question 1

All of the following are true about Down syndrome except for one.

Accepted Answer

Incidence of Robertsonian translocation is 1:1000

Answer

Most common cause is trisomy 21

Answer

Mosaicism 21 has no association with maternal age

Answer

Extra chromosome is of maternal origin

Answer

Incidence increases with advanced maternal age

Question 2

Disputed maternity can be solved by using the following tests, EXCEPT:

Accepted Answer

Precipitin test

Answer

Blood grouping

Answer

HLA typing

Answer

DNA fingerprinting

Question 3

Which of the following markers is not used in quadruple test for antenatal detection of Down syndrome?

Accepted Answer

Estradiol

Answer

Inhibin

Answer

AFP

Answer

ss-hCG

Question 4

Which of the following is the MOST accurate test for detecting neural tube defects?

Accepted Answer

USG

Answer

Placentography

Answer

Chromosomal analysis

Answer

Amniocentesis

Question 5

Number of chromosomes in Klinefelter syndrome:

Accepted Answer

47

Answer

44

Answer

46

Answer

45

Question 6

Nuchal translucency is used in

Accepted Answer

ANC USG

Answer

Head scan

Answer

MRI neck

Answer

Anthropometry

Question 7

Most appropriate time for chorionic villus sampling in pregnancy is:

Accepted Answer

10-13 weeks

Answer

16-18 weeks

Answer

16-20 weeks

Answer

8-10 weeks

Question 8

Most commonly used sonological indicator for aneuploidy in first trimester is:

Accepted Answer

Nuchal translucency

Answer

Gestational sac volume

Answer

Serum PAPP-A level

Answer

Crown-rump length

Question 9

18 weeks pregnant female presents with no high risk of NTD and low risk of trisomy 21 on quad test. What is the most appropriate next step in management?

Accepted Answer

Perform a detailed fetal ultrasound.

Answer

Repeat non-invasive screening test.

Answer

Perform invasive diagnostic testing.

Answer

Perform amniotic fluid analysis.

Question 10

Which of the following statements about chorionic villus sampling is false?

Accepted Answer

Is performed only in second trimester of pregnancy

Answer

Can cause limb deformities

Answer

Is used for prenatal genetic diagnosis

Answer

Villi are collected from chorion frondosum

Prenatal Diagnosis and Genetic Counseling — MCQs

Prenatal Diagnosis and Genetic Counseling — MCQs

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