Chromo Anomalies Penny

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Advanced maternal age is considered to be over what age?

35

Theca lutein cysts would most likely be linked with a molar pregnancy and a. down b. IUGR c. triploidy d. monosomy x

triploidy

Another name for Patau syndrome is

trisomy 13

Cycolpia would most likely be associated with a. trisomy 18 b. trisomy 21 c. trisomy 18 d. trisomy 13

trisomy 13

Sonographically, you identify a fetus with fusion of the thalami and a monoventricle. Which chromosomal abnormality would be most likely? a. trisomy 18 b. trisomy 21 c. trisomy 8 d. trisomy 13

trisomy 13

Which protein is not produced by the developing placenta? a. AFP b. hCG c. estriol d. PAPP-A

AFP

Rounded head shape is referred to as: A. Dolichocephaly B. Brachycephaly C. Cebocephaly D. Craniosynostosis

brachycephaly

The maternal serum screening of a mother with a fetus with trisomy 18 will reveal: a. decreased hGC, elevated AFP, and normal estriol b. increased hCG, APF, and estriol c. increased AFP and hCG, and decreased estriol d. decreased hCG, AFP, and estriol

decreased hCG, AFP, and estriol

What is another name for the most common chromosomal anomaly? a. edwards b. triploidy c. down syndrome d. turner syndrome

down syndrome

Widened pelvic angles and duododnal atresia are most consistent with the sonographic markers for: A. Triploidy B. Patau syndrome C. Down syndrome D.Edwards syndrome

down syndrome

A strawberry-shaped skull is associated with a. edwards b. turner c. down d. patau

edwards

Which of the following lab findings would not be consistent with trisomy 21? a. high AFP b. low estriol c. high hCG d. low PAPP-A

high AFP

A fetus with a daryotype 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

Bilateral choroid plexus cysts, micrognathia, and rockerbottom feet are sonographic findings 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

Which of the following is a sex chromosome anomaly? a. edwards b. trisomy 13 c. down d. 45 X

45 X

Normal diploid cells have a. 46 chromosomes b. 23 chromosomes c. 21 chromosomes d. 69 chromosomes

46

The triple screen includes what lab values?

AFP, estriol, and hCG

The earliest invasive fetal karyotyping technique that can be performed is a. amniocentesis b. cordocentesis c. CVS d. PUBS

CVS

With what procedure is placental tissue obtained? a. amniocentesis b. cordocentesis c. CVS d. trophoblastic resection technique

CVS

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. Syndactyly B. clinodactyly C. polydactyly D. Stabodactyly

clinodactyly

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 38y/o pregnant woman presents with abnormal maternal serum screening. Her AFP and estriol are low, whereas her hCG is elevated. These laboratory findings are most consistent with a. edwards b. patau c. triploidy d. down

down

Echogenic small bowel is most often associated with a. down b. edwards c. patau d. turner

down

With which of the following is brachycephaly associated most often? a. edwards b. patau c. down d. turner

down

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. down b. edwards c. klinefelter d. turner

klinefelter

A structural abnormality that results from an abnormal development describes a. syndrome b. chromosomal deviation c. malformation d. congenital misrepresentation

malformation

The term for small eyes is a. microphthalmia b. micrognathia c. microcephaly d. microglossia

microphthalmia

Fusion of the orbits and holoprosencephaly are associated with: a. edwards b. turner c. down d. patau

patau

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 molar pregnancy, omphalocele, and small, low-set ears are found most often with a. trisomy 21 b. trisomy 18 c. trisomy 13 d. triploidy

triploidy

A 22 week fetus with clinodactyly, and echogenic intracardiac focus, and hyperechoic bowel is noted during a screening OB sonogram. These findings are most consistent with a. trisomy 21 b. trisomy 13 c. monosomy X d. trisomy 18

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. triploidy d. turner syndrome

trisomy 21

Monosomy X refers to: a. Edwards syndrome b. Patau syndrome c. Down syndrome d. Turner syndrome

turner syndrome

Nonimmune hydrops and ovarian dysgenesis are found in fetuses affected by a. trisomy 21 b. trisomy 18 c. trisomy 13 d. turner syndrome

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


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