Chap 30 Chromosomal Abnormalities
Which of the following is a sex chromosome anomaly?
45,X
Normal diploid cells have?
46 chromosomes
Advanced maternal age is considered to be?
> 35 years of age
Absent nasal bones and an increased nuchal fold measurement are most consistent with the sonographic markers for? A. Trisomy 21 B. Trisomy 13 C. Triploidy D. Trisomy 18
A. Trisomy 21
The bending of the fifth digit toward the fourth digit is called? A. Syndactyly B. clinodactyly C. polydactyly D. Stabodactyly
B. clinodactyly
Rounded head shape is referred to as?
Brachycephaly
With what procedure is placental tissue obtained?
CVS
What are the fingerlike projections of gestational tissue that attach to the decidualized endometrium?
Chorionic villi
The maternal serum screening of a mother with a fetus with trisomy 18 will reveal?
Decreased hCG, alpha-fetoprotein, and estriol
Pelvocaliectasis refers to?
Dilation of renal pelvis and calices
Webbed fingers or toes are termed?
Syndactyly
Another name for Patau syndrome is?
Trisomy 13
Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by?
Turner syndrome
Cleft lip, hypotelorism, and microphthalmia are all sonographic features of? a. Trisomy 21 b. Trisomy 18 c. Trisomy 13 d. Turner syndrome
c. Trisomy 13
Which protein is NOT produced by the developing placenta?
Alpha-fetoprotein
The triple screen typically includes?
Alpha-fetoprotein, estriol, and human chorionic gonadotropin (hCG)
A fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth restriction most likely has? A. Trisomy 21 B. Trisomy 18 C. Triploidy D. Turner syndrome
C. Triploidy
The earliest invasive fetal karyotyping technique that can be preformed is?
CVS
A 38-year-old pregnant woman presents to the sonography department for an obstetrical sonogram with abnormal maternal serum screening. Her alpha-fetoprotein and estriol are low, whereas her hCG is elevated. These lab findings are most consistent with?
Down syndrome
Echogenic small bowel is most often associated with?
Down syndrome
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
With which of the following syndromes is brachycephaly associated most often?
Down syndrome
A strawberry shaped skull is associated with?
Edwards syndrome
Which of the following lab findings would NOT be consistent with trisomy 21?
High AFP
Which of the following is NOT consistent with the diagnosis of nonimmune hydrops?
Hypoplastic mandible
Which of the following is a sex chromosome anomaly associated with hypogonadism and subnormal intelligence in males?
Klinefelter syndrome
A structural abnormality that results from an abnormal development describes?
Malformation
The term for small eyes is?
Microphthalmia
Fusion of the orbits and holoprosencephaly are associated with?
Patau syndrome
A molar pregnancy, omphalocele, and small, low-set ears are found most often with?
Triploidy
Theca lutein cysts would most likely be linked with a molar pregnancy and?
Triploidy
Cyclopia would most likely be associated with?
Trisomy 13
Sonographically, you identify a fetus with fusion of the thalami and a monoventricle. Which chromosomal abnormality would be most likley?
Trisomy 13
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
What is macroglossia most often associated with?
Trisomy 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? a. trisomy 21 b. trisomy 13 c. trisomy 18 d. triploidy
c. Trisomy 18
Monosomy X refers to? a. Edwards syndrome b. Patau syndrome c. Down syndrome d. Turner syndrome
d. Turner syndrome
Webbing of the neck and short stature is found in infertile female patients with a history of? A. trisomy 21 B. Triploidy c. trisomy 13 d. Turner syndrome
d. Turner syndrome
A large space between the first and second toes is termed? a. polydactyly b. clubfoot c. ulnaration d. sandal gap
d. sandal gap
