OB/GYN Steven Penny Review Questions: Chromosomal Anomalies Ch 30

rounded head shape is referred to as: dolichocephaly brachycephaly cebocephaly craniosynostosis

brachycephaly

what is another name for the most common chromosomal abnormality? Edwards syndrome triploidy down syndrome Turner syndrome

down syndrome

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

sandal gap

webbed fingers or toes are termed : clinodactyly syndactyly polydactyly Whren syndrome

syndactyly

absent nasal bones and an increased nuchal fold measurement are most consistent with the sonographic markers for: trisomy 21 trisomy 13 triploidy trisomy 18

trisomy 21

a strawberry-shaped skull is associated with: Edwards syndrome Turner syndrome down syndrome Patau syndrome

Edwards syndrome

with which of the following syndromes is brachycephaly associated most often? Edwards syndrome Patau syndrome down syndrome Turner syndrome

down syndrome

another name for Patau syndrome is: trisomy 21 trisomy 16 trisomy 18 trisomy 13

trisomy 13

cyclopia would most likely be associated with: trisomy 8 trisomy 21 trisomy 18 trisomy 13

trisomy 13

which of the following is a sex chromosome anomaly? Edwards syndrome trisomy 13 down syndrome 45, X

45, X

normal diploid cells have: 46 chromosomes 23 chromosomes 21 chromosomes 69 chromosomes

46 chromosomes

AMA is considered to be: >25 y/o >30 y/o >35 y/o >32 y/o

>35 y/o

which protein is not produced by the developing placenta? AFP hCG estriol PAPP-A

AFP

the triple screen typically includesL AFP, estriol, hCG AFP, AFI, hCG AFP, estriol, PAPP-A PAPP-A, inhibin A, hCG

AFP, estriol, hCG

the earlies invasive fetal karyotyping technique that can be performed is: amniocentesis cordocentesis CVS PUBS

CVS

which of the following is a sex chromosome anomaly associated with hypogonadism and subnormal intelligence in males? down syndrome Edwards syndrome Klinefelter syndrome Turner syndrome

Klinefelter syndrome

Webbing of the neck and short stature is found in infertile female patients with a history of: trisomy 21 triploidy trisomy 13 Turner syndrome

Turner syndrome

monsomy X refers to: Edwards syndrome Patau syndrome down syndrome Turner syndrome

Turner syndrome

nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by: trisomy 21 trisomy 18 trisomy 13 Turner syndrome

Turner syndrome

with what procedure is placental tissue obtained?

amniocentesis cordocentesis CVS trophoblastic resection technique

what are the fingerlike projections of gestational tissue that attach to the decidualized endometrium? decidua capsularis decidua vera chorionic villi placental substancw

chorionic villi

The bending of the fifth digit toward the fourth digit is called: syndactyly clinodactyly polydactyly stabodactyly

clinodactyly

the materanl serum screening of a mother with a fetus with trisomy 18 will reveal: decreased hCG, elevated AFP, normal estriol increased hCG, AFP, and estriol increased hCG, AFP, estriol decreased hCG, AFP, and estriol

decreased hCG, AFP, and estriol

pelvocaliectasis refers to: dilation of the renal pelvis and calices enlargement of the fetal pelvis ectopic location of the kidney within the pelvis dilation of the ureter within the pelvis

dilation of the renal pelvis and calices

a 38 y/o pregnant woman presents with abnormal maternal serum screening. her AFP and estriol are low, whereas her hCG is elevated. these lab findings are most consistent with: Edwards syndrome Patau syndrome triploidy down syndrome

down syndrome

echogenic small bowel is most often associated with: down syndrome Edward syndrome Patau syndrome Turner syndrome

down syndrome

widened pelvic angles and duododnal atresia are most consistent with the sonographic markers for: triploidy Patau syndrome down syndrome Edwards syndrome

down syndrome

which of the following lab findings would not be consistent with trisomy 21? high AFP low estriol high hCG low PAPP-A

high AFP

which of the following is not consistent with the diagnosis of nonimmune hydrops? hypoplastic mandible pleural effusion ascites subcutaneous edema

hypoplastic mandible

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

malformation

the term for small eyes is: microphthalmia micrognathia microcephaly microglossia

microphthalmia

fusion of the orbits and holoprosencephaly are associated with: Edwards syndrome Turner syndrome down syndrome Patau syndrome

patau syndrome

A fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and intrauterine growth restriction most likely has : trisomy 21 trisomy 18 triploidy Turner syndrome

triploidy

a molar pregnancy, omphalocele, an small, low-set ears are found most often with: trisomy 21 trisomy 18 trisomy 13 triploidy

triploidy

theca lutein cysts would most likely be linked with a molar pregnancy and: down syndrome IUGR triploidy monosomy X

triploidy

Cleft lip, hypotelorism, and microphthalmia are all sonographic features of: trisomy 21 trisomy 18 trisomy 13 turner syndrome

trisomy 13

sonographically, you identify a fetus with fusion of the thalami and a monoventricle. which chromosomal abnormality would be most likely? trisomy 8 trisomy 21 trisomy 18 trisomy 13

trisomy 13

bilateral CPCs, micrognathia, and rockerbottom feet are sonographic findings of a 27 week fetus with an omphalocele. these findings are most consistent with: trisomy 21 trisomy 13 trisomy 18 triploidy

trisomy 18

a 22-week fetus with clinodactyly, an EIF, and hyperechoic bowel is noted during a secreeing ob exam. these findings are most consistent with: trisomy 21 trisomy 13 monosomy X trisomy 18

trisomy 21

what is macroglossia most often associated with? trisomy 21 trisomy 18 triploidy Turner syndrome

trisomy 21