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OBGYN REGISTRY PRACTICE > Chromosomal Abnormalities > Flashcards

Chromosomal Abnormalities Flashcards

1
Q

Normal diploid cells have:
A. 46 chromosomes
B. 23 chromosomes
C. 21 chromosomes
D. 69 chromosomes

A

A. 46 chromosomes

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2
Q

A 38-year-old pregnant woman presents to the sonography department for an obstetrical sonogram with abnormal maternal serum screening. Her alpha-fetoprotein and estriol are low, whereas her hCG is elevated. These laboratory findings are most consistent with:
A. Edwards syndrome
B. Patau syndrome
C. Triploidy
D. Down syndrome

A

D. Down syndrome

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3
Q

The triple screen typically includes:
A. Alpha-Fetoprotein, estriol, and hCG
B. Alpha-Fetoprotein, amniotic fluid index, and hCG
C. Alpha-Fetoprotein, estriol, and PAPP-A
D. PAPP-A, inhibin A, and hCG

A

A. Alpha-Fetoprotein, estriol, and hCG

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4
Q

Another name for Patau syndrome is:
A. Trisomy 21
B. Trisomy 16
C. Trisomy 18
D. Trisomy 13

A

D. Trisomy 13

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5
Q

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

A

B. Brachycephaly

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6
Q

Theca lutein cysts would most likely be linked with a molar pregnancy and:
A. Down syndrome
B. Intrauterine growth restriction
C. Triploidy
D. Monosomy X

A

C. Triploidy

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7
Q

With which of the following syndromes is brachycephaly associated most
often?
A. Edwards syndrome
B. Patau syndrome
C. Down syndrome
D. Turner syndrome

A

C. Down syndrome

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8
Q

Advanced maternal age is considered to be:
A. >25 years of age
B. >30 years of age
C. >35 years of age
D. >32 years of age

A

C. >35 years of age

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9
Q

Which of the following is a sex chromosome anomaly?
A. Edwards syndrome
B. Trisomy 13
C. Down syndrome
D. 45,X

A

D. 45,X

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10
Q

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

A

D. Triploidy

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11
Q

With what procedure is placental tissue obtained?
A. Amniocentesis
B. Cordocentesis
C. CVS
D. Trophoblastic resection technique

A

C. CVS

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12
Q

The bending of the fifth digit toward the fourth digit is called:
A. Syndactyly
B. Clinodactyly
C. Polydactyly
D. Stabodactyly

A

B. Clinodactyly

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13
Q

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

A

D. Turner syndrome

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14
Q

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

A

A. Dilation of the renal pelvis and calices

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15
Q

The earliest invasive fetal karyotyping technique that can be performed
is:
A. Amniocentesis
B. Cordocentesis
C. CVS
D. PUBS

A

C. CVS

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16
Q

A strawberry-shaped skull is associated with:
A. Edwards syndrome
B. Turner syndrome
C. Down syndrome
D. Patau syndrome

A

A. Edwards syndrome

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17
Q

Cleft lip, hypotelorism, and microphthalmia are all sonographic features
of:
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Turner syndrome

A

C. Trisomy 13

18
Q

Monosomy X refers to:
A. Edwards syndrome
B. Patau syndrome
C. Down syndrome
D. Turner syndrome

A

D. Turner syndrome

19
Q

What are the fingerlike projections of gestational tissue that attach to the
decidualized endometrium?
A. Decidua capsularis
B. Decidua vera
C. Chorionic villi
D. Placental substance

A

C. Chorionic villi

20
Q

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. Monosomy X
D. Trisomy 18

A

A. Trisomy 21

21
Q

The term for small eyes is:
A. Microphthalmia
B. Micrognathia
C. Microcephaly
D. Microglossia

A

A. Microphthalmia

22
Q

The maternal serum screening of a mother with a fetus with trisomy 18
will reveal:
A. Decreased hCG, elevated alpha-fetoprotein, and normal estriol
B. Increased hCG, alpha-fetoprotein, and estriol
C. Increased alpha-fetoprotein, increased hCG, and decreased estriol
D. Decreased hCG, alpha-fetoprotein, and estriol

A

D. Decreased hCG, alpha-fetoprotein, and estriol

23
Q

Fusion of the orbits and holoprosencephaly are associated with:
A. Edwards syndrome
B. Turner syndrome
C. Down syndrome
D. Patau syndrome

A

D. Patau syndrome

24
Q

A structural abnormality that results from an abnormal development
describes:
A. Syndrome
B. Chromosomal deviation
C. Malformation
D. Congenital misrepresentation

A

C. Malformation

25
Q

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

A

A. Trisomy 21

26
Q

A large space between the first and second toes is termed:
A. Polydactyly
B. Clubfoot
C. Ulnaration
D. Sandal gap

A

D. Sandal gap

27
Q

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

A

C. Trisomy 18

28
Q

Nonimmune hydrops and ovarian dysgenesis are found in fetuses
affected by:
A. Trisomy 21
B. Trisomy 18
C. Trisomy 13
D. Turner syndrome

A

D. Turner syndrome

29
Q

What is macroglossia most often associated with?
A. Trisomy 21
B. Trisomy 18
C. Triploidy
D. Turner syndrome

A

A. Trisomy 21

30
Q

A fetus with a karyotype 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

A

C. Triploidy

31
Q

What is another name for the most common chromosomal abnormality?
A. Edwards syndrome
B. Triploidy
C. Down syndrome
D. Turner syndrome

A

C. Down syndrome

32
Q

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

A

C. Down syndrome

33
Q

Sonographically, 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

A

D. Trisomy 13

34
Q

Which protein is not produced by the developing placenta?
A. Alpha-Fetoprotein
B. hCG
C. Estriol
D. PAPP-A

A

A. Alpha-Fetoprotein

35
Q

Which of the following laboratory findings would not be consistent with trisomy 21?
A. High AFP
B. Low estriol
C. High hCG
D. Low PAPP-A

A

A. High AFP

36
Q

Cyclopia would most likely be associated with:
A. Trisomy 8
B. Trisomy 21
C. Trisomy 18
D. Trisomy 13

A

D. Trisomy 13

37
Q

Webbed fingers or toes are termed:
A. Clinodactyly
B. Syndactyly
C. Polydactyly
D. Whren syndrome

A

B. Syndactyly

38
Q

Which of the following is a sex chromosome anomaly associated with
hypogonadism and subnormal intelligence in males?
A. Down syndrome
B. Edwards syndrome
C. Klinefelter syndrome
D. Turner syndrome

A

C. Klinefelter syndrome

39
Q

Which of the following is not consistent with the diagnosis of nonimmune hydrops?
A. Hypoplastic mandible
B. Pleural effusion
C. Ascites
D. Subcutaneous edema

A

A. Hypoplastic mandible

40
Q

Echogenic small bowel is most often associated with:
A. Down syndrome
B. Edwards syndrome
C. Patau syndrome
D. Turner syndrome

A

A. Down syndrome

OBGYN REGISTRY PRACTICE (17 decks)

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