Chromosomal Abnormalities

What protein in not produced by the developing placenta? a. Alpha-fetoprotein b. Human chorionic gonadotropin c. Estriol d. Pregnancy-associated plasma protein A

a. Alpha-fetoprotein

The triple screen typically includes: a. Alpha-fetoprotein, estriol, and human chorionic gonadotropin b. Alpha-fetoprotein, amniotic fluis index, and human chorionic gonadotropin c. Alpha-fetoprotein, estriol, and pregnancy-associated plasma protein A d. Pregnancy-associated plasma protein A, inhibit A, and human chorionic gonadotropin

a. Alpha-fetoprotein, estriol, and human chorionic gonadotropin

A strawberry-shaped skull is associated with: a. Edwards syndrome b. Turner syndrome c. Down syndrome d. Patau syndrome

a. Edwards syndrome

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

a. High AFP

The term for small eyes is: a. Microphthalmia b. Micrognathia c. Microcephaly d. Microglossia

a. Microphthalmia

A 22-week gestation fetus with clinodactyly, an echogenic intracardiac focus, and hyper echoic bowel is noted during a screening obstetrical sonogram. These findings are most consistent with: a. Trisomy 21 b. Trisomy 13 c. Monosomy X d. Trisomy 18

a. Trisomy 21

Absent nasal bones and an increased nuchal fold measurement is most consistent with the sonographic markers for: a. Trisomy 21 b. Trisomy 13 c. Triploidy d. Trisomy 18

a. Trisomy 21

Of the following, which is macroglossia most often associated with? a. Trisomy 21 b. Trisomy 18 c. Triploidy d. Turner syndrome

a. Trisomy 21

Rounded head shape is referred to as: a. Dolichocephaly b. Brachycephaly c. Cebocephaly d. Craniosynostosis

b. Brachycephaly

The bending of the fifth digit toward the fourth digit is called: a. Syndactyly b. Clinodactyly c. Polydactyly d. Stabodactyly

b. Clinodactyly

Webbed fingers or toes are termed: a. Clinodactyly b. Syndactyly c. Polydactyly d. Whren syndrome

b. Syndactyly

Advanced maternal age is considered to be: a. >25 years of age b. >30 years of age c. >35 years of age d. >40 years of age

c. >35 years of age

Placental tissue is obtained with what procedure? a. Amniocentesis b. Cordocentesis c. Chorionic villi sampling d. Trophoblastic resection technique

c. Chorionic villi sampling

The earliest fetal karyotyping technique that can be performed is: a. Amniocentesis b. Cordocentesis c. Chorionic villi sampling d. Percutaneous umbilical cord sampling

c. Chorionic villi sampling

Brachycephaly is associated most often with which of the following syndromes? a. Edwards syndrome b. Patau syndrome c. Down syndrome d. Turner syndrome

c. Down syndrome

Widened pelvic angles and duodenal atresia are most consistent with the sonographic markers for: a. Triploidy b. Patau syndrome c. Down syndrome d. Edwards syndrome

c. Down syndrome

A structural abnormality that results from an abnormal development describes: a. Syndrome b. Chromosomal deviation c. Malformation d. Congenital misrepresentation

c. Malformation

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

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

Bilateral chord plexus cysts, micrognathia, and rocker bottom 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

The maternal serum screening of a mother with a fetus with trisomy 18 will reveal: a. Decreased human chorionic gonadotropin, elevated aha-fetoprotein, and normal estriol b. Increased human chorionic gonadotropin, alpha-fetoprotein, and estriol c. Increased alpha-fetoprotein, increased human chorionic gonadotropin, and decreased estriol d. Decreased human chorionic gonadotropin, alpha-fetoprotein, and estriol

d. Decreased human chorionic gonadotropin, alpha-fetoprotein, and estriol

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, while her human chorionic gonadotropin is elevated. These laboratory findings are most consistent with: a. Edwards syndrome b. Patau syndrome c. Triploidy d. Down syndrome

d. Down syndrome

Fusion of the orbits and holoprosencephaly are associated with: a. Edwards syndrome b. Turner syndrome c. Down syndrome d. Patau syndrome

d. Patau syndrome

A large space between the first and second toe is termed: a. Polydactyly b. Clubfoot c. Ulnaration d. Sandal gap

d. Sandal gap

A molar pregnancy, omphalocele, and small, low-set ears are found most often with: a. Trisomy 21 b. Trisomy 18 c. Trisomy 13 d. Triploidy

d. Triploidy

Cyclopia would most likely be associated with: a. Trisomy 8 b. Trisomy 21 c. Trisomy 18 d. Trisomy 13

d. Trisomy 13

Sonographically you identify a fetus with fusion of the thalami and a monoventricle. Which chromosomal abnormality would be most likely? a. Trisomy 8 b. Trisomy 21 c. Trisomy 18 d. Trisomy 13

d. Trisomy 13

Monosomy X refers to: a. Edwards syndrome b. Patau syndrome c. Down syndrome d. Turner syndrome

d. Turner syndrome

Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by: a. Trisomy 21 b. Trisomy 18 c. Trisomy 13 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