Trisomies Review

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

45, X

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

Brachycephaly

What is referred to as Turner syndrome?

Monosomy x

Fusion of the orbits and holoprosencephaly are associated with:

Patau syndrome

Which trisomy is most likely to present with hypoplastic left heart, polydactyly, and various facial and brain anomalies?

Patau/Tri 13

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

Triploidy

Cleft lip, hypotelorism, and microphthalmia are all sonographic features of: a. Trisomy 21 b. Trisomy 18 c. Trisomy 13 d. Turner syndrome

Trisomy 13

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 likely?

Trisomy 13

The most frequently encountered chromosomal abnormality associated with holoprosencephaly:

Trisomy 13

What chromosomal aberration is most often associated with holoprosencephaly?

Trisomy 13

What is also referred to as Patau syndrome?

Trisomy 13

which trisomies don't rely on maternal serum screening lab values?

Trisomy 13/Patau and Triploidy

A strawberry shaped skull is commonly associated with:

Trisomy 18

Micrognathia is a condition found in: A) Trisomy 21 B) Hydranencephaly C) Beckwith-Wiedemann Syndrome D) Trisomy 18

Trisomy 18

The choroid plexus cyst could be associated with an increase risk of:

Trisomy 18

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

Trisomy 21

An EIF would most likely be associated with:

Trisomy 21

An absent or hypoplastic nasal bone is most likely associated with:

Trisomy 21

What is macroglossia associated with?

Trisomy 21

Which chromosomal anomaly is associated with echogenic bowel?

Trisomy 21

Which of the following is most often associated with duodenal atresia? a. Trisomy 21 b. Trisomy 18 c. Trisomy 13 d. Triploidy

Trisomy 21

Monosomy X refers to:

Turner syndrome

Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by:

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

Turner syndrome

The bending of the fifth digit toward the fourth digit is called: A. Syndactyly B. clinodactyly C. polydactyly D. Stabodactyly

clinodactyly

the maternal serum screening of a mother with a fetus with trisomy 18 will reveal:

decreased hcg, AFP, and estriol

A 38 year old pregnant woman presents with low AFP and low estriol, but high hCG. these lab values are consistent with:

down syndrome

Nuchal thickening is most commonly associated with:

down syndrome

What is the most common chromosomal abnormality?

down syndrome

Which trisomy presents with nonimmune hydrops, pericardial effusion, VSD, and sandal gap?

down syndrome

Widened pelvic angles and duodenal atresia are most consistent with the sonographic markers for:

down syndrome

with which syndrome is brachycephaly associated most often?

down syndrome

which chromosomal syndromes have: low AFP low estriol low hCG low inhibin A low PAPP-A

edwards (18) and turners syndrome

Which trisomy presents with hydrocephalus, diaphragmatic hernia, spina bifida, and clubfeet?

edwards/tri 18

Which of the following lab values would not be consistent with trisomy 21? a. high AFP b. low estriol c. high hCG d. low PAPP-A

high AFP

Down syndrome has low MSAFP, low estriol, and low PAPP-A, but has high:

high hCG high inhibin A

Facial anomalies should prompt the sonographer to analyze the brain closely for signs of:

holoprosencephaly

which trisomy may present with microcephaly, cleft lip, cleft palate, microphthalmia, hypotelorism?

patau/tri 13

A large space between the first and second toes is termed:

sandal gap

Webbed fingers or toes are termed:

syndactyly

A molar pregnancy, omphalocele, and small, low-set ears are found most often with:

triploidy

Which trisomy is most likely to present with Dandy Walker malformation, holoprosencephaly, IUGR, renal anomalies, and syndactyly?

triploidy

Bilateral chorioid plexus cysts, micrognathia, and rockerbottom feet are sonographic findings of a 27 week fetus with an omphalocele. these findings are consistent with:

trisomy 18

Which trisomy may present with spina bifida, clenched hands, esophageal atresia and omphalocele?

trisomy 18

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

An increased nuchal fold is most likely associated with:

trisomy 21

Which of the following would most likely involve the development of a cystic hygroma? a. Beckwith-weidmann syndrome b. hydranecephaly c. turner syndrome d. klinefelter syndrome

turner syndrome

Which trisomy most likely will present with ovarian dysgenesis, renal agenesis, and coarctation of aorta?

turner syndrome, 45, x, monosomy x


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