Chapter 30: Chromosomal Abnormalities Flashcards
The term omphalo refers to:
umbilical region
What is defined as a group of clinically observable findings that exist together and allow for classification?
syndrome
A cell having three copies of an individual chromosome is referred to as:
trisomy
A situation in which some cells have an abnormal number of chromosomes whereas others do not is defined as:
mosaic
A cell that has an abnormal number of whole chromosomes is referred to as:
aneuploid
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
a
Normal diploid cells have:
46 chromosomes
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:
Down syndrome
The triple screen usually includes:
AFP, estriol, and hCG
Another name for Patau syndrome is:
trisomy 13
Rounded head shape is referred to as:
brachycephaly
Theca lutein cysts would most likely be linked with a molar pregnancy and:
triploidy
With which of the following syndromes is brachycephaly associated most often?
a. Edwards syndrome
b. Patau syndrome
c. Down syndrome
d. Turner syndrome
c
Advanced maternal age is considered to be:
older than 35 years old
Which of the following is a sex chromosome anomaly?
a. Edwards syndrome
b. Trisomy 13
c. Down syndrome
d. 45, X
d
A molar pregnancy, omphalocele, and small, low-set ears are found most often with:
triploidy
With what procedure is placental tissue obtained?
CVS
The bending of the fifth digit toward the fourth digit is called:
clinodactyly
Webbing of the neck and short stature is found in infertile female patients with a history of:
Turner syndrome
Pelvocaliectasis refers to:
dilation of the renal pelvis and calices
The earliest invasive fetal karyotyping technique that can be performed is:
CVS
A strawberry-shaped skull is associated with:
Edwards syndrome
Cleft lip, hypotelorism, and microphthalmia are all sonographic features of:
trisomy 13
Monosomy X refers to:
Turner Syndrome
What are the fingerlike projections of gestational tissue that attach to the decidualized endometrium?
chorionic villi
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:
trisomy 21
The term for small eyes is:
micropthalmia
The maternal serum screening of a mother with a fetus with trisomy 18 will reveal:
decreased hCG, AFP, and estriol
Fusion of the orbits and holoprosencephaly is associated with:
Patau syndrome
A structural abnormality that results from an abnormal development describes:
malformation
Absent nasal bones and an increased nuchal fold measurement are most consistent with the sonographic markers for:
trisomy 21
A large space between the first and second toes is termed:
sandal gap
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:
trisomy 18
Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by:
Turner syndrome
What is macroglossia most often associated with?
trisomy 21
A fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth restriction most likely has:
triploidy
What is another name for the most common chromosomal abnormality?
down syndrome
Widened pelvic angles and duodenal atresia are most consistent with the sonographic markers for:
Down syndrome
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
d
Which protein is not produced by the developing placenta?
a. AFP
b. hCG
c. Estriol
d. PAPP-A
a
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
a
Cyclopia would most likely be associated with:
trisomy 13
Webbed fingers or toes are termed:
syndactyly
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
c
Which of the following is not consistent with the diagnosis of nonimmune hydrops?
a. hypoplastic mandible
b. pleural effusion
c. ascites
d. subcuteaneous edema
a
Echogenic small bowel is most often associated with:
Down syndrome
