OB Ch 55 - Prenatal Diagnosis of Congenital Anomalies

Procedures

Medical Genetics

Screening Prenatal Tests

Chromosomal Abnormalities

Trisomies

100

Where is the optimal site to collect amniotic fluid during an amniocentesis?

a. Near maternal midline

b. Near the placenta

c. Near the head of the fetus

d. RUQ

a. Near maternal midline

100

How many chromosomes does the normal karyotype consist of?

a. 42 chromosomes

b. 23 chromosomes

c. 46 chromosomes

d. 48 chromosomes

c. 46 chromosomes

100

AFP is first produced by the ______ _____ and then the ____ ____

a. Yolk sac, fetal kidneys

b. Yolk sac, fetal liver

c. Yolk sac, umbilical cord

d. Fetal kidneys, umbilical cord

b. Yolk sac, fetal liver

100

Most common chromosomal disorder

a. Trisomy 21

b. Trisomy 13

c. Trisomy 18

d. Patau Syndrome

Trisomy 21/Down Syndrome

100

What trisomy/syndrome is this abnormality associated with?

a. Patau syndrome

b. Trisomy 21

c. Edward's syndome

d. Turner syndrome

d. Turner Syndrome

200

What are the 2 advantages to Chorionic Villus Sampling over an Amniocentesis?

a. Performed early in pregnancy (10-14 weeks) and results available within 2 weeks

b. Performed early in pregnancy (5-8 weeks) and results available within 1 week

c. Performed early in pregnancy (10-14 weeks) and results available within 1 week

Performed early in pregnancy (10-14 weeks)

Results available within 1 week

200

The cause of trisomy is usually ______

a. Nondisjunction

b. unpredicatable

c. Fusion

a. Nondisjunction

200

Frequent cause of high MSAFP level

a. Placental insufficiency

b. Breech position

c. Fetal distress

d. Fetal death

200

Trisomy 18 is also known as

a. Down Syndrome

b. Patau Syndrome

c. Turner Syndrome

d. Edward's Syndrome

d. Edwards' Syndrome

200

An absent nasal bone is a sonographic finding with what trisomy?

a. Down syndrome

b. Patau Syndrome

c. Turner syndrome

d. Edward's syndrome

a. Trisomy 21/Down Syndrome

300

What is the technique for multiple gestations during an amniocentesis?

a. Determine which sac has more fluid and take the sample from that sac

b. Only one sample is needed from one fetus

c. 3 samples taken total

d. A sample is taken from each fetal sac entered

D. A sample is taken from each fetal sac entered

300

Caused by a pair of defective genes

- 1 inherited from each parent

a. Autosomal recessive disorder

b. Autosomal dominant disorder

c. X-linked

a. Autosomal recessive disorder

300

The quadruple screen combines what 4 serum markers?

a. hCG, AFP, ALT, lipase

b. AFP, hCG, unconjugated estriol, inhibin-A

c. hCG, inhibin-A, unconjugated estriol, WBC

b. AFP, hCG, Unconjugated estriol, Inhibin-A

300

What trisomy has these characteristics?

a. Trisomy 13

b. Turner Syndrome

c. Trisomy 21

d. Trisomy 18

Trisomy 13 or Patau's Syndrome

300

What is this image depicting and what is the trisomy associated with it?

a. Clenched hands, Trisomy 18

b. Clenched hands, Trisomy 21

c. Absent fingers, Trisomy 21

d. Clenched hands, Trisomy 13

Clenched hands, Trisomy 18/Edwards Syndrome

400

What type of procedure is being performed here?

a. Amniocentesis

b. Chorionic Villus Sampling

c. Cordocentesis

400

What is this chart an example of

a. Autosomal dominant inheritance

b. Autosomal recessive inheritance

c. X-linked

b. Autosomal recessive inheritance

400

Normal or abnormal nuchal translucency?

a. Normal

b. Abnormal

c. Need more information

d. Normal for gestational age

b. Abnormal

400

With Trisomy 21, the femurs may be shortened to around what percentile?

a. <5th

b. <10th

c. <15th

d. <8th

a. <5th percentile

400

What trisomy is depicted here?

a. Trisomy 18

b. Trisomy 21

c. Trisomy 13

c. Trisomy 13/Patau Syndrome

500

What dye is injected with a multiple gestation amniocentesis to ensure that both sacs have been sampled?

a. White carmine dye

b. Indigo carmine dye

c. Maroon carmine dye

d. Teal carmine dye

b. Indigo carmine dye

500

What gene mutation pattern does this represent?

a. Chromosomal puzzle configuration

b. Chromosomal dominance

c. Chromosomal mosaicism

d. Chromosomal gridlock

Chromosomal mosaicism

500

When is cell-free DNA sampled?

a. At or greater than 8 weeks

b. At or greater than 10 weeks

c. At or greater than 6 weeks

d. At or greater than 7 weeks

b. At or greater than 10 weeks

500

These characteristics align with which Trisomy/syndrome?

a. Turner Syndrome

b. Patau Syndrome

c. Trisomy 18

d. Trisomy 21

a. Turner Syndrome

500

This ultrasound is depicting what 2 abnormalities of the hand? What trisomy is it associated with?

a. Hyperplasia of the middle phalanx and Clinodactyly, Trisomy 21/Down Syndrome

b. Hypoplasia of the middle phalanx and Clinodactyly, Trisomy 21/Down Syndrome

c. Hypoplasia of the middle phalanx and Clinodactyly, Trisomy 18/Edward's Syndrome

b. Hypoplasia of the middle phalanx and Clinodactyly, Trisomy 21/Down Syndrome