Penny Review: Chromosomal Abnormalities

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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


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