chapter 55 Flashcards

1
Q

Chorionic villus sampling (CVS)

A

an ultrasound-directed biopsy of the placenta or chorionic villi (chorion frondosum)

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2
Q

Chorionic villus sampling (CVS) is normally done between which weeks?

A

10 to 14 weeks

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3
Q

Amniocentesis is a test offered to ______?

A

expectant patients who are at risk for a chromosomal abnormality or biochemical disorder that may be prenatally detectable

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4
Q

Amniocentesis test are avaliable within ____ weeks?

A

1 to 3 weeks

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5
Q

fluorescence in situ hybridization (FISH) is?

A

24 hours results for the most common chromosomal anomalies. - 18, 13, 21, x, y

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6
Q

Amniocentesis for genetic reasons is ideally performed between ___?

A

15 to 20 weeks

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7
Q

Alpha- fetoprotein is?

A

A major protein in fetal serum, produce by yolk sac, then by fetal liver

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8
Q

AFP levels are considered abnormal when?

A

elevated or low.

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9
Q

reasons for high AFP levels are?

A

Neural tube defects, such as anencephaly and open spina bifida,

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10
Q

Two common abdominal wall defects?

A

omphalocele and gastroschisis

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11
Q

what caused a obstructed lymph sacs lead to AFP diffusion through the hygroma into the bloodstream and amniotic fluid?

A

cystic hygroma,

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12
Q

x-link disorder inherited by boys, from mother or father?

A

mother

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13
Q

recessive disorder is inherited form ?

A

both mother and father

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14
Q

with each pregnancy, parents have 25% chance of having a fetus with disorder?

A

recessive disorder

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15
Q

with each pregnancy, parents have 50% chance of having a fetus with disorder?

A

dominant disorder

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16
Q

trisomy 18 is known as

A

Edwards syndrome

17
Q

trisomy 18 is the 1st or 2nd most common?

A

2nd most common

18
Q

Trisomy 21 is associated with an increased in ____?

A

NT

19
Q

anomalies include polydactyly, talipes, rocker-bottom feet, and overlapping fingers, is associated with which trisomy?

A

trisomy 13

20
Q

Cystic hygroma is one of the most pathognomonic findings for which disorder?

A

turners syndrome