Penny Review: Chromosomal Abnormalities
Normal diploid cells have ________ chromosomes ? a) 46 b) 23 c) 21 d) 69
46
Advanced maternal age is considered to be ? a) > 2 b) > 30 c) > 35 d) > 32
> 35
Which protein is not produced by the developing placenta ? a) AFP b) hCG c) estriol d) PAPPA
AFP
The triple screen typically includes? a) AFP, estriol, hCG b) AFP AFI and hCG c) AFP estriol and PAPPA d) PAPPA inhibin A and hCG
AFP estriol and hCG
the earliest invasive fetal karyotyping technique that can be performed is ? a) amniocentesis b) cordocentesis c) CVS d) PUBS
CVS
Rounded head shape is referred to as a) dolichocephaly b) brachycephaly c) cebocephaly d) craniosynostosis
brachycephaly
What are the finger like projections of gestational tissue that attach to the decidualized endometrium? a) decidua capsularis b) decidua vera c) chorionic villi d) placental substance
chorionic villi
The bending of the fifth digit toward the fourth digit is called? a) syndaactyly b) clinodactyly c) polydactyly d) stabodactyly
clinodactyly
With what procedure is placental tissue obtained? a) amniocentesis b) cordocentesis c) CVS d) trophoblastic resection technique
cvs
The maternal serum screening of a mother with a fetus with trisomy 18 will reveal ? a) decreased hCG, elevated afp, and normal estriol b) increased hCG, AFP and estriol c) increased AFP, increased hCG, and decreased estriol d) decreased hCG AFP adn estriol
decreased hCG, AFP, and Estriol
pelvocaliectasis 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
dilation of the renal pelvis and calices
A 38 year old pregnant woman presents to the US Depart for an OB US with abnormal MSAFP screening. Her AFP is high and estriol low, where as her hcg is high. These lab values are most consistent with ? a) edwards b) pataus c) triploidy d) downs
down syndrome
Echogenic small bowel is most often associated with ? a) downs b) edwards c) pataus d) turners
down syndrome
What is another name for the most common chromosomal abnormality? a) edwards b) triploidy c) downs d) turners
downs syndrome
Widened pelvic angles and duodenal atresia are most consistent with the sono markers for ? a) triploidy b) patau c) downs d) edwards
downs syndrome
With which pf the following syndromes is brachycephaly associated most often? a) edwards b) pataus c) downs d) turners
downs syndromes
A strawberry shaped skull is associated with ? a) edwards b) turners c) downs d) pataus
edwards syndrome
Which of the following lab findings would not be consistent with trisomy 21? a) high AFP b) low estriol c) high hCG d) low PAPPA
high AFP
Which of the following is not consistent with the diagnosis of nonimmune hydrops? a) hypoplastic mandible b) pleural effusion c) ascites d) subcutaneous edema
hypoplastic mandible
Which of the following is a sex chromosome anomaly associated with hypogonadism and subnormal intelligence in males? a) downs b) edwards c) klinefelters d) turners
klinefelters syndrome
A structural abnormality that results from an abnormal development describes? a) syndrome b) chromosomal deviation c) malformation d) congenital misrepresentation
malformation
The term small eyes is ? a) micropthalmia b) micrognathia c) microcephaly d) microglossia
micropthalmia
Which of the following is a sex chromosome anomaly ? a) trisomy 21 b) trisomy 13 c) trisomy 18 d) monosomy X
monosomy X
Fusion of the orbits and holoprosencephaly are associated with ? a) edwards syndrome b) turner syndrome c) down syndrome d) patau syndrome
patau syndrome
A large space between the first and second toes is termed? a) polydactyly b) clubfoot c) ulnaration d) sandal gap
sandal gap
Webbed fingers or toes are termed? a) clinodactyly b) syndactyly c) polydactyly d) whren syndrome
syndactyly
A fetus with a karyotype revealing it has 69 chromosomes and sonographic findings of webbed fingers and IUGR most likely has? a) trisomy 21 b) trisomy 18 c) triploidy d) turner syndrome
triploidy
A molar pregnancy, omphalocele, and small, low set ears are found most often with ? a) trisomy 21 b) triomy 13 c) trisomy 18 d) triploidy
triploidy
Theca lutein cysts would most likely be linked with a molar pregnancy and a) down syndrome b) IUGR c) triploidy d) monosomy X
triploidy
Another name for pataus is ? a) trisomy 13 B) trisomy 18 c) trisomy 21 d) trisomy16
trisomy 13
Cleft lip, hypoteleroism, and micropthalmia are all sonographic features of ? a) trisomy 21 b) trisomy 13 c) trisomy 18 d) turner syndrome
trisomy 13
Cyclopia would most likely be associated with ? a) trisomy 8 b) trisomy 21 c) triomy 18 d) trisomy 13
trisomy 13
Sonograhically 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
trisomy 13
Bilateral choroid plexus cyst micrognathai and rocker bottom feet are sono finds 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
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 ? a) trisomy 21 b) trisomy 13 c) trisomy 18 d) monosomy X
trisomy 21
Absent nasal bones and an increased nuchal fold measurement are most consistent with the sonographic markers for ? a) trisomy 21 b) trisomy 13 c) triploidy d) trisomy 18
trisomy 21
What is macroglossia most often associated with ? a) trisomy 21 b) trisomy 18 c) trisomy 13 d) triploidy
trisomy 21
Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by ? a) trisomy 21 b) trisomy 13 c) trisomy 18 d) turners syndrome
turner syndrome
Webbing of the neck and short stature is found in infertile female patients with a history of ? a) trisomy 21 b) trisomy 13 c) trisomy 18 d) turner syndrome
turner syndrome
Monosomy X refers to ? a) edwards b) pataus c) downs d) turners
turners
