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
