Trisomies Review
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
