Chromosomal Abnormalities

Question 1

Normal diploid cells have:
A. 46 chromosomes
B. 23 chromosomes
C. 21 chromosomes
D. 69 chromosomes

Answer 1

A. 46 chromosomes

Question 2

A 38-year-old pregnant woman presents to the sonography department for an obstetrical sonogram with abnormal maternal serum screening. Her alpha-fetoprotein and estriol are low, whereas her hCG is elevated. These laboratory findings are most consistent with:
A. Edwards syndrome
B. Patau syndrome
C. Triploidy
D. Down syndrome

Answer 2

D. Down syndrome

Question 3

The triple screen typically includes:
A. Alpha-Fetoprotein, estriol, and hCG
B. Alpha-Fetoprotein, amniotic fluid index, and hCG
C. Alpha-Fetoprotein, estriol, and PAPP-A
D. PAPP-A, inhibin A, and hCG

Answer 3

A. Alpha-Fetoprotein, estriol, and hCG

Question 4

Another name for Patau syndrome is:
A. Trisomy 21
B. Trisomy 16
C. Trisomy 18
D. Trisomy 13

Answer 4

D. Trisomy 13

Question 5

Rounded head shape is referred to as:
A. Dolichocephaly
B. Brachycephaly
C. Cebocephaly
D. Craniosynostosis

Answer 5

B. Brachycephaly

Question 6

Theca lutein cysts would most likely be linked with a molar pregnancy and:
A. Down syndrome
B. Intrauterine growth restriction
C. Triploidy
D. Monosomy X

Answer 6

C. Triploidy

Question 7

With which of the following syndromes is brachycephaly associated most
often?
A. Edwards syndrome
B. Patau syndrome
C. Down syndrome
D. Turner syndrome

Answer 7

C. Down syndrome

Question 8

Advanced maternal age is considered to be:
A. >25 years of age
B. >30 years of age
C. >35 years of age
D. >32 years of age

Answer 8

C. >35 years of age

Question 9

Which of the following is a sex chromosome anomaly?
A. Edwards syndrome
B. Trisomy 13
C. Down syndrome
D. 45,X

Answer 9

D. 45,X

Question 10

A molar pregnancy, omphalocele, and small, low-set ears are found most
often with:
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Triploidy

Answer 10

D. Triploidy

Question 11

With what procedure is placental tissue obtained?
A. Amniocentesis
B. Cordocentesis
C. CVS
D. Trophoblastic resection technique

Answer 11

C. CVS

Question 12

The bending of the fifth digit toward the fourth digit is called:
A. Syndactyly
B. Clinodactyly
C. Polydactyly
D. Stabodactyly

Answer 12

B. Clinodactyly

Question 13

Webbing of the neck and short stature is found in infertile female patients
with a history of:
A. Trisomy 21
B. Triploidy
C. Trisomy 13
D. Turner syndrome

Answer 13

D. Turner syndrome

Question 14

Pelvocaliectasis refers to:
A. Dilation of the renal pelvis and calices
B. Enlargement of the fetal pelvis
C. Ectopic location of the kidney within the pelvis
D. Dilation of the ureter within the pelvis

Answer 14

A. Dilation of the renal pelvis and calices

Question 15

The earliest invasive fetal karyotyping technique that can be performed
is:
A. Amniocentesis
B. Cordocentesis
C. CVS
D. PUBS

Answer 15

C. CVS

Question 16

A strawberry-shaped skull is associated with:
A. Edwards syndrome
B. Turner syndrome
C. Down syndrome
D. Patau syndrome

Answer 16

A. Edwards syndrome

Question 17

Cleft lip, hypotelorism, and microphthalmia are all sonographic features
of:
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Turner syndrome

Answer 17

C. Trisomy 13

Question 18

Monosomy X refers to:
A. Edwards syndrome
B. Patau syndrome
C. Down syndrome
D. Turner syndrome

Answer 18

D. Turner syndrome

Question 19

What are the fingerlike projections of gestational tissue that attach to the
decidualized endometrium?
A. Decidua capsularis
B. Decidua vera
C. Chorionic villi
D. Placental substance

Answer 19

C. Chorionic villi

Question 20

A 22-week fetus with clinodactyly, an echogenic intracardiac focus, and
hyperechoic bowel is noted during a screening obstetrical sonogram.
These findings are most consistent with:
A. Trisomy 21
B. Trisomy 13
C. Monosomy X
D. Trisomy 18

Answer 20

A. Trisomy 21

Question 21

The term for small eyes is:
A. Microphthalmia
B. Micrognathia
C. Microcephaly
D. Microglossia

Answer 21

A. Microphthalmia

Question 22

The maternal serum screening of a mother with a fetus with trisomy 18
will reveal:
A. Decreased hCG, elevated alpha-fetoprotein, and normal estriol
B. Increased hCG, alpha-fetoprotein, and estriol
C. Increased alpha-fetoprotein, increased hCG, and decreased estriol
D. Decreased hCG, alpha-fetoprotein, and estriol

Answer 22

D. Decreased hCG, alpha-fetoprotein, and estriol

Question 23

Fusion of the orbits and holoprosencephaly are associated with:
A. Edwards syndrome
B. Turner syndrome
C. Down syndrome
D. Patau syndrome

Answer 23

D. Patau syndrome

Question 24

A structural abnormality that results from an abnormal development
describes:
A. Syndrome
B. Chromosomal deviation
C. Malformation
D. Congenital misrepresentation

Answer 24

C. Malformation

Question 25

Absent nasal bones and an increased nuchal fold measurement are most consistent with the sonographic markers for: A. Trisomy 21 B. Trisomy 13 C. Triploidy D. Trisomy 18

Answer 25

A. Trisomy 21

Question 26

A large space between the first and second toes is termed: A. Polydactyly B. Clubfoot C. Ulnaration D. Sandal gap

Answer 26

D. Sandal gap

Question 27

Bilateral choroid plexus cysts, micrognathia, and rockerbottom feet are sonographic findings of a 27-week fetus with an omphalocele. These findings are most consistent with: A. Trisomy 21 B. Trisomy 13 C. Trisomy 18 D. Triploidy

Answer 27

C. Trisomy 18

Question 28

Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by: A. Trisomy 21 B. Trisomy 18 C. Trisomy 13 D. Turner syndrome

Answer 28

D. Turner syndrome

Question 29

What is macroglossia most often associated with? A. Trisomy 21 B. Trisomy 18 C. Triploidy D. Turner syndrome

Answer 29

A. Trisomy 21

Question 30

A fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth restriction most likely has: A. Trisomy 21 B. Trisomy 18 C. Triploidy D. Turner syndrome

Answer 30

C. Triploidy

Question 31

What is another name for the most common chromosomal abnormality? A. Edwards syndrome B. Triploidy C. Down syndrome D. Turner syndrome

Answer 31

C. Down syndrome

Question 32

Widened pelvic angles and duodenal atresia are most consistent with the sonographic markers for: A. Triploidy B. Patau syndrome C. Down syndrome D. Edwards syndrome

Answer 32

C. Down syndrome

Question 33

Sonographically, you identify a fetus with fusion of the thalami and a monoventricle. Which chromosomal abnormality would be most likely? A. Trisomy 8 B. Trisomy 21 C. Trisomy 18 D. Trisomy 13

Answer 33

D. Trisomy 13

Question 34

Which protein is not produced by the developing placenta? A. Alpha-Fetoprotein B. hCG C. Estriol D. PAPP-A

Answer 34

A. Alpha-Fetoprotein

Question 35

Which of the following laboratory findings would not be consistent with trisomy 21? A. High AFP B. Low estriol C. High hCG D. Low PAPP-A

Answer 35

A. High AFP

Question 36

Cyclopia would most likely be associated with: A. Trisomy 8 B. Trisomy 21 C. Trisomy 18 D. Trisomy 13

Answer 36

D. Trisomy 13

Question 37

Webbed fingers or toes are termed: A. Clinodactyly B. Syndactyly C. Polydactyly D. Whren syndrome

Answer 37

B. Syndactyly

Question 38

Which of the following is a sex chromosome anomaly associated with hypogonadism and subnormal intelligence in males? A. Down syndrome B. Edwards syndrome C. Klinefelter syndrome D. Turner syndrome

Answer 38

C. Klinefelter syndrome

Question 39

Which of the following is not consistent with the diagnosis of nonimmune hydrops? A. Hypoplastic mandible B. Pleural effusion C. Ascites D. Subcutaneous edema

Answer 39

A. Hypoplastic mandible

Question 40

Echogenic small bowel is most often associated with: A. Down syndrome B. Edwards syndrome C. Patau syndrome D. Turner syndrome

Answer 40

A. Down syndrome