Ch. 30 Chromosomal Abnormalities

Question 1

A 38yr pregnant woman presents to the US dept for an obstetrical sonogram w/ abnormal maternal serum screening. Her alpha-fetoprotein and estriol are low, while her human chorionic gonadotropin is elevated. These laboratory findings are most consistent w/:
Edwards syndrome
Patau syndrome
Triploidy
Down syndrome

Answer 1

Down syndrome

Question 2

The triple screen usually includes:

• Alpha-fetoprotein, estriol, and human chorionic gonadotropin
• Alpha-fetoprotein, amniotic fluid index, and human chorionic gonadotropin
• Alpha-fetoprotein, estriol, and pregnancy-associated plasma protein A
• Pregnancy-associated plasma protein A, inhibin A, and human chorionic gonadotropin

Answer 2

Alpha-fetoprotein, estriol, and human chorionic gonadotropin

Question 3

Rounded head shape is referred to as:
Dolichocephaly
Brachycephaly
Cebocephaly
Craniosynostosis

Answer 3

Brachycephaly

Question 4

Brachycephaly is associated most often w/ which of the following syndromes?
Edwards syndrome
Patau syndrome
Down syndrome
Turner syndrome

Answer 4

Down syndrome

Question 5

Advance maternal age is considered to be:
>25yrs
>30yrs
>35yrs
>40yrs

Answer 5

> 35 yrs

Question 6

A molar pregnancy, omphalocele, and small, low-set ears are found most often w/:
Trisomy 21
Trisomy 18
Trisomy 13
Triploidy

Answer 6

Triploidy

Question 7

Placental tissue is obtained w/ what procedure?
Amniocentesis
Cordocentesis
Chorionic villi sampling
Trophoblastic resection technique

Answer 7

Chorionic villi sampling

Question 8

The bending of the 5th digit toward the 4th digit is called:
Syndactyly
Clinocactyly
Polydactyly
Stabodactyly

Answer 8

Clinodactyly

Question 9

The earliest fetal karyotyping technique that can be performed is:
Amniocentesis
Cordocentesis
Chorionic villi sampling
Percutaneous umbilical cord sampling

Answer 9

Chorionic villi sampling

Question 10

Webbing of the neck and short stature is found in infertile female pts w/ a hx of:
Trisomy 21
Triploidy
Trisomy 13
Turner syndrome

Answer 10

Turner syndrome

Question 11

A strawberry-shaped skull is associated w/:
Edwards syndrome
Turner syndrome
Down syndrome
Patau syndrome

Answer 11

Edwards syndrome

Question 12

Cleft lip, hypotelorism, and microphthalmia are all sonographic features of:
Trisomy 21
Trisomy 18
Trisomy 13
Turner syndrome

Answer 12

Trisomy 13

Question 13

Monosomy X refers to:
Edwards syndrome
Patau syndrome
Down syndrome
Turner syndrome

Answer 13

Turner syndrome

Question 14

A 22-wk gest fetus w/ clinodactyly, an echogenic intracardiac focus, and hyperechoic bowel is noted during a screening obstetrical sonogram. These findings are most consistent w/:
Trisomy 21
Trisomy 13
Monosomy X
Trisomy 18

Answer 14

Trisomy 21

Question 15

The term for small eyes is:
Microphthalmia
Micrognathia
Microcephaly
Microglossia

Answer 15

Microphthalmia

Question 16

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

• Decreased hCG, elevated alpha-fetoprotein, and normal estriol
• Increased hCG, alpha-fetoprotein, and estriol
• Increased alpha-fetoprotein, increased hCG, and decreased estriol
• Decreased hCG, alpha-fetoprotein, and estriol

Answer 16

Decreased hCG, alpha-fetoprotein, and estriol

Question 17

Fusion of the orbits and holoprosencephaly are associated w/:
Edwards syndrome
Turner syndrome
Down syndrome
Patau syndrome

Answer 17

Patau syndrome

Question 18

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

Answer 18

Malformation

Question 19

Absent nasal bones and an increased nuchal fold measurement is most consistent w/ the sonographic markers for:
Trisomy 21
Trisomy 13
Triploidy
Trisomy 18

Answer 19

Trisomy 21

Question 20

A large space b/n the 1st and 2nd toe is termed:
Polydactyly
Clubfoot
Ulnaration
Sandal gap

Answer 20

Sandal gap

Question 21

Bilateral choroid plexus cysts, micrognathia, and rockerbottom feet are sonographic findings of a 27-wk fetus w/ an omphalocele. These findings are most consistent w/:
Trisomy 21
Trisomy 13
Trisomy 18
Triploidy

Answer 21

Trisomy 18

Question 22

Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by:
Trisomy 21
Trisomy 18
Trisomy 13
Turner syndrome

Answer 22

Turner syndrome

Question 23

Of the following, which is macroglossia most often associated w/?
Trisomy 21
Trisomy 18
Triploidy
Turner syndrome

Answer 23

Trisomy 21

Question 24

A fetus w/ a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth restriction most likely has:
Trisomy 21
Trisomy 18
Triploidy
Turner syndrome

Answer 24

Triploidy

Question 25

``` Widened pelvic angles and duodenal atresia are most consistent w/ the sonographic markers for: Triploidy Patau syndrome Down syndrome Edwards syndrome ```

Answer 25

Down syndrome

Question 26

``` Sonographically you identify a fetus w/ fusion of the thalami and a monoventricle. Which chromosomal abnormality would be most likely? Trisomy 8 Trisomy 21 Trisomy 18 Trisomy 13 ```

Answer 26

Trisomy 13

Question 27

``` Which protein isn't produced by the developing placenta? Alpha-fetoprotein hCG Estriol Pregnancy-associated plasma protein A ```

Answer 27

Alpha-fetoprotein

Question 28

``` Which of the following laboratory findings would not be consistent w/ trisomy 21? High AFP Low estriol High hCG Low PAPP_A ```

Answer 28

High AFP

Question 29

``` Cyclopia would most likely be associated w/: Trisomy 8 Trisomy 21 Trisomy 18 Trisomy 13 ```

Answer 29

Trisomy 13

Question 30

``` Webbed fingers or toes are termed: Clinodactyly Syndactyly Polydactyly Whren syndrome ```

Answer 30

Syndactyly