Chapter 30 Chromosomal abnormality

Question 1

A 38 year old pregnant woman presents to the sonography department for an obstetrical sonogram with abnormal maternal serum screening. Her alpha-fetaprotein and estriol are low, while her human chorionic ganadotropin is elevated. These laboratory findings are most consistent with?

Answer 1

Down Syndrome

Question 2

The triple screen typically includes:

Answer 2

alpha fetoprotein, estriol, and human chorionic ganadortopin

Question 3

Rounded head shape is referred to as:

Answer 3

bracheycephaly

Question 4

brachycephaly is associated most often with which syndrome?

Answer 4

Down syndrome

Question 5

Advanced maternal age is considered to be?

Answer 5

> 35 years of age

Question 6

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

Answer 6

Triploidy

Question 7

Placental tissue is obtained with what procedure?

Answer 7

Chorionic Sampling

Question 8

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

Answer 8

Clinodactyly

Question 9

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

Answer 9

Turner syndrome

Question 10

The earliest fetal karyotyping technique that can be performed is?

Answer 10

Chorionic villi sampling

Question 11

A strawberry-shape skull is associated with?

Answer 11

Edwards syndrome

Question 12

Cleft lip, hypoterlorism, and microphthalmia are all sonographic features of?

Answer 12

Trisomy 13

Question 13

Monosomy X refers to?

Answer 13

Turner Syndrome

Question 14

A 22 week gestation fetus with clinodactyly, an echogenic intracardiac focus, and hyperechoic bowel is noted during a screening obstetrical sonogram. These findings are consistent with?

Answer 14

Trisomy 21

Question 15

The term for small eyes?

Answer 15

microphthalmia

Question 16

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

Answer 16

Decreased human chorionic gonadotropin, alpha-fetoprotein, and estriol

Question 17

Fusion of the orbits and holoprosencephaly are associated with?

Answer 17

Patau Syndrome

Question 18

A structural abnormality that results form an abnormal development describes?

Answer 18

malformation

Question 19

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

Answer 19

Trisomy 21

Question 20

A large space between the first and second toe is termed?

Answer 20

Sandal Gap

Question 21

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?

Answer 21

Trisomy 18

Question 22

nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by

Answer 22

Turner syndrome

Question 23

Macroglossia most often associated with?

Answer 23

Trisomy21

Question 24

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

Answer 24

Triploidy

Question 25

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

Answer 25

Down syndrome

Question 26

Sonographically you identify a fetus with fusion of the thalami and a monoventricle. Which chromosomal abnormality would be most likely?

Answer 26

Trisomy 13

Question 27

Which protein is not produced by the developing placenta?

Answer 27

Alpha-fetaprotein

Question 28

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 28

High AFP

Question 29

Cyclopia would most likely be associated with?

Answer 29

Trisomy 13

Question 30

Webbed fingers or toes are termed?

Answer 30

Syndactyly