Ch. 30 Chromosomal Abnormalities Flashcards
(30 cards)
1
Q
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
A
Down syndrome
2
Q
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
A
Alpha-fetoprotein, estriol, and human chorionic gonadotropin
3
Q
Rounded head shape is referred to as: Dolichocephaly Brachycephaly Cebocephaly Craniosynostosis
A
Brachycephaly
4
Q
Brachycephaly is associated most often w/ which of the following syndromes? Edwards syndrome Patau syndrome Down syndrome Turner syndrome
A
Down syndrome
5
Q
Advance maternal age is considered to be: >25yrs >30yrs >35yrs >40yrs
A
> 35 yrs
6
Q
A molar pregnancy, omphalocele, and small, low-set ears are found most often w/: Trisomy 21 Trisomy 18 Trisomy 13 Triploidy
A
Triploidy
7
Q
Placental tissue is obtained w/ what procedure? Amniocentesis Cordocentesis Chorionic villi sampling Trophoblastic resection technique
A
Chorionic villi sampling
8
Q
The bending of the 5th digit toward the 4th digit is called: Syndactyly Clinocactyly Polydactyly Stabodactyly
A
Clinodactyly
9
Q
The earliest fetal karyotyping technique that can be performed is: Amniocentesis Cordocentesis Chorionic villi sampling Percutaneous umbilical cord sampling
A
Chorionic villi sampling
10
Q
Webbing of the neck and short stature is found in infertile female pts w/ a hx of: Trisomy 21 Triploidy Trisomy 13 Turner syndrome
A
Turner syndrome
11
Q
A strawberry-shaped skull is associated w/: Edwards syndrome Turner syndrome Down syndrome Patau syndrome
A
Edwards syndrome
12
Q
Cleft lip, hypotelorism, and microphthalmia are all sonographic features of: Trisomy 21 Trisomy 18 Trisomy 13 Turner syndrome
A
Trisomy 13
13
Q
Monosomy X refers to: Edwards syndrome Patau syndrome Down syndrome Turner syndrome
A
Turner syndrome
14
Q
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
A
Trisomy 21
15
Q
The term for small eyes is: Microphthalmia Micrognathia Microcephaly Microglossia
A
Microphthalmia
16
Q
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
A
Decreased hCG, alpha-fetoprotein, and estriol
17
Q
Fusion of the orbits and holoprosencephaly are associated w/: Edwards syndrome Turner syndrome Down syndrome Patau syndrome
A
Patau syndrome
18
Q
A structural abnormality that results from an abnormal development describes: Syndrome Chromosomal deviation Malformation Congenital misrepresentation
A
Malformation
19
Q
Absent nasal bones and an increased nuchal fold measurement is most consistent w/ the sonographic markers for: Trisomy 21 Trisomy 13 Triploidy Trisomy 18
A
Trisomy 21
20
Q
A large space b/n the 1st and 2nd toe is termed: Polydactyly Clubfoot Ulnaration Sandal gap
A
Sandal gap
21
Q
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
A
Trisomy 18
22
Q
Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by: Trisomy 21 Trisomy 18 Trisomy 13 Turner syndrome
A
Turner syndrome
23
Q
Of the following, which is macroglossia most often associated w/? Trisomy 21 Trisomy 18 Triploidy Turner syndrome
A
Trisomy 21
24
Q
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
A
Triploidy
25
```
Widened pelvic angles and duodenal atresia are most consistent w/ the sonographic markers for:
Triploidy
Patau syndrome
Down syndrome
Edwards syndrome
```
Down syndrome
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
```
Trisomy 13
27
```
Which protein isn't produced by the developing placenta?
Alpha-fetoprotein
hCG
Estriol
Pregnancy-associated plasma protein A
```
Alpha-fetoprotein
28
```
Which of the following laboratory findings would not be consistent w/ trisomy 21?
High AFP
Low estriol
High hCG
Low PAPP_A
```
High AFP
29
```
Cyclopia would most likely be associated w/:
Trisomy 8
Trisomy 21
Trisomy 18
Trisomy 13
```
Trisomy 13
30
```
Webbed fingers or toes are termed:
Clinodactyly
Syndactyly
Polydactyly
Whren syndrome
```
Syndactyly
