Chapter 30: Chromosomal Abnormalities

Question 1

The term omphalo refers to:

Answer 1

umbilical region

Question 2

What is defined as a group of clinically observable findings that exist together and allow for classification?

Answer 2

syndrome

Question 3

A cell having three copies of an individual chromosome is referred to as:

Answer 3

trisomy

Question 4

A situation in which some cells have an abnormal number of chromosomes whereas others do not is defined as:

Answer 4

mosaic

Question 5

A cell that has an abnormal number of whole chromosomes is referred to as:

Answer 5

aneuploid

Question 6

Which of the following is a maternal serum test that is used to determine the gender, as well as detecting some chromosomal abnormalities?
a. Cell-free DNA
b. cordocentesis
c. amniocentesis
d. CVS

Answer 6

a

Question 7

Normal diploid cells have:

Answer 7

46 chromosomes

Question 8

A 38 year old pregnant woman presents to the sonography department for an obstetric sonogram with abnormal maternal serum screening. Her AFP and estriol are low, whereas her hCG is elevated. These laboratory findings are most consistent with:

Answer 8

Down syndrome

Question 9

The triple screen usually includes:

Answer 9

AFP, estriol, and hCG

Question 10

Another name for Patau syndrome is:

Answer 10

trisomy 13

Question 11

Rounded head shape is referred to as:

Answer 11

brachycephaly

Question 12

Theca lutein cysts would most likely be linked with a molar pregnancy and:

Answer 12

triploidy

Question 13

With which of the following syndromes is brachycephaly associated most often?
a. Edwards syndrome
b. Patau syndrome
c. Down syndrome
d. Turner syndrome

Answer 13

c

Question 14

Advanced maternal age is considered to be:

Answer 14

older than 35 years old

Question 15

Which of the following is a sex chromosome anomaly?
a. Edwards syndrome
b. Trisomy 13
c. Down syndrome
d. 45, X

Answer 15

d

Question 16

A molar pregnancy, omphalocele, and small, low-set ears are found most often with:

Answer 16

triploidy

Question 17

With what procedure is placental tissue obtained?

Answer 17

CVS

Question 18

The bending of the fifth digit toward the fourth digit is called:

Answer 18

clinodactyly

Question 19

Webbing of the neck and short stature is found in infertile female patients with a history of:

Answer 19

Turner syndrome

Question 20

Pelvocaliectasis refers to:

Answer 20

dilation of the renal pelvis and calices

Question 21

The earliest invasive fetal karyotyping technique that can be performed is:

Answer 21

CVS

Question 22

A strawberry-shaped skull is associated with:

Answer 22

Edwards syndrome

Question 23

Cleft lip, hypotelorism, and microphthalmia are all sonographic features of:

Answer 23

trisomy 13

Question 24

Monosomy X refers to:

Answer 24

Turner Syndrome

Question 25

What are the fingerlike projections of gestational tissue that attach to the decidualized endometrium?

Answer 25

chorionic villi

Question 26

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:

Answer 26

trisomy 21

Question 27

The term for small eyes is:

Answer 27

micropthalmia

Question 28

The maternal serum screening of a mother with a fetus with trisomy 18 will reveal:

Answer 28

decreased hCG, AFP, and estriol

Question 29

Fusion of the orbits and holoprosencephaly is associated with:

Answer 29

Patau syndrome

Question 30

A structural abnormality that results from an abnormal development describes:

Answer 30

malformation

Question 31

Absent nasal bones and an increased nuchal fold measurement are most consistent with the sonographic markers for:

Answer 31

trisomy 21

Question 32

A large space between the first and second toes is termed:

Answer 32

sandal gap

Question 33

Bilateral choroid plexus cysts, micrognathia, and rocker-bottom feet are sonographic findings of a 27 week fetus with an omphalocele. These findings are consistent with:

Answer 33

trisomy 18

Question 34

Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by:

Answer 34

Turner syndrome

Question 35

What is macroglossia most often associated with?

Answer 35

trisomy 21

Question 36

A fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth restriction most likely has:

Answer 36

triploidy

Question 37

What is another name for the most common chromosomal abnormality?

Answer 37

down syndrome

Question 38

Widened pelvic angles and duodenal atresia are most consistent with the sonographic markers for:

Answer 38

Down syndrome

Question 39

Sonographically, you identify a fetus with fusion of the thalami and a monoventricle. Which chromosome abnormality would be most likely? a. trisomy 8 b. trisomy 21 c. trisomy 18 d. trisomy 13

Answer 39

d

Question 40

Which protein is not produced by the developing placenta? a. AFP b. hCG c. Estriol d. PAPP-A

Answer 40

a

Question 41

Which of the following lab findings would not be consistent with trisomy 21? a. high AFP b. low estriol c. high hCG d. low PAPP-A

Answer 41

a

Question 42

Cyclopia would most likely be associated with:

Answer 42

trisomy 13

Question 43

Webbed fingers or toes are termed:

Answer 43

syndactyly

Question 44

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 syndome d. Turner syndrome

Answer 44

c

Question 45

Which of the following is not consistent with the diagnosis of nonimmune hydrops? a. hypoplastic mandible b. pleural effusion c. ascites d. subcuteaneous edema

Answer 45

a

Question 46

Echogenic small bowel is most often associated with:

Answer 46

Down syndrome