chromosomal abnormalities PRACTICE QUIZ

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Absent nasal bones in an increased nuchial measurement is most consistent with the sonographic markers for: A. Trisomy 21 B. Trisomy 13 C. Triploidy D. Trisomy 18

a

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: a. trisomy 21 b. trisomy 13 c. monosomy x d. trisomy 18

a

a strawberry-shaped skull is associated with: a. edwards syndrome b. turners syndrome c. down syndrome d. patau syndrome

a

echogenic small bowel is most often associated with: a. down syndrome b. edwards syndrome c. patau syndrome d. turner syndrome

a

normal diploid cells have: a. 46 chromosomes b. 23 chromosomes c. 21 chromosomes d. 69 chromosomes

a

pelviocaliectasis refers to: a. dilation of the renal pelvis and calices b. enlargement of the fetal pelvis c. ectopic location of the kidney within the pelvis d. dilation of the ureter within the pelvis

a

the term for small eyes is: a. microphthalmia b. mirognathia c. microcephaly d. microglossia

a

the triple screen typically includes; a. Alpha-fetoprotein, estriol, and hCG b. alpha-fetoprotein, amniotic fluid index, and hCG c. alpha-fetoprotein, estriol, and PAPP-A d. PAPP-A, inhibin A, and hCG

a

what is macroglossia most often associated with a. trisomy 21 b. trisomy 18 c. triploidy d. turner syndrome

a

which of the following is not consistent with the diagnosis of nonimmune hydrops a. hypoplastic mandible b. pleural effusion c. ascites d. subcutaneous edema

a

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

which protein is not produced by the developing placenta a. alpha-fetoprotein b. hCG c. estriol d. PAPP-A

a

Rounded head shape is referred to as: A. Dolichocephaly B. Brachycephaly C. Cebocephaly D. Craniosynostosis

b

The bending of the fifth digit toward the fourth digit is called: a. syndactyly b. clinodactyly c. polydactyly d. stabodactyly

b

Webbed fingers or toes are termed : A. Clinodactyly B. Syndactyly C. Polydactyly D. Whren syndrome

b

What are the fingerlike projections of gestational tissue that attach to the decidualized endometrium? a. decidua capsularis b. decidua vera c. chorionic villi d. placental substance

c

Widened pelvic angles and duododnal atresia are most consistent with the sonographic markers for: A. Triploidy B. Patau syndrome C. Down syndrome D.Edwards syndrome

c

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

a structural abnormality that results from an abnormal development describes: a. syndrome b. chromosomal deviation c. malformation d. congenital misrepresentation

c

advanced maternal age is considered to be: a. > 25 years of age b. > 30 years of age c. > 35 years of age d. > 32 years of age

c

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

cleft lip, hypotelorsim, and microphthalmia are all sonographic features of: a. trisomy 21 b. trisomy 18 c. trisomy 13 d. turner syndrome

c

the earliest invasive fetal karyotyping technique that can be performed is: a. amniocentesis b. cordocentesis c. CVS d. PUBS

c

theca lutein cysts would most likely be linked with a molar pregnancy and: a. Down syndrome b. intrauterine growth restriction c. triploidy d. monosomy X

c

what is another name for the most common chromosomal abnormality a. edwards syndrome b. triploidy c. down syndrome d. turner syndrome

c

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 syndrome d. turner syndrome

c

with what procedure is placental tissue obtained: a. amniocentesis b. cordocentesis c. CVS d. trophoblastic resection technique

c

with which of the following syndrome is brachycephaly associated most often? a. edwards syndrome b. patau syndrome c. down syndrome d. turner syndrome

c

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

d

Fusion of the orbits and holoprosencephaly are associated with: a. edwards syndrome b. turner syndrome c. down syndrome d. patau syndrome

d

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

d

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

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 laboratory findings are most consistent with: a. edwards syndrome b. patau syndrome c. triploidy d. down syndrome

d

a large space between the first and second toes is termed: a. polydactyly b. clubfoot c. ulnaration d. sandal gap

d

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

another name for patau syndrome is: a. trisomy 21 b. trisomy 16 c. trisomy 18 d. trisomy 13

d

nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by a. trisomy 21 b. trisomy 18 c. trisomy 13 d. turner syndrome

d

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

the maternal serum screening of a mother with a fetus with trisomy 18 will reveal: a. decreased hCG, elevated alphaprotein, and normal estriol b. increased hCG, alpha-fetoprotein, and estriol c. increased alpha-fetoprotein, increased hCG, and decreased estriol d. decreased hCG, alpha-fetoprotein, and estriol

d

which of the following is a sex chromosome anomaly? a. edwards syndrome b. trisomy 13 c. down syndrome d. 45X

d


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