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OB-Hagen > Chapter 55 Prenatal Diagnosis Of Congenital Anomalies > Flashcards

Chapter 55 Prenatal Diagnosis Of Congenital Anomalies Flashcards

1
Q

There are two categories of genetic testing they can be either ____ or ______

A

Invasive or noninvasive

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2
Q

Ultrasound guided biopsy of the placenta or chorion frondosum

A

Chorionic Villus Sampling (cvs)

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3
Q

Chorionic villus sampling(cvs) tests are performed ___

A

10-14 weeks

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4
Q

Results from the chorionic villus sampling(cvs) are available within ____

A

1 week

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5
Q

In the chorionic villus sampling(cvs) how are chromosomal abnormalities detected?

A

By growing and analyzing the sampled villi

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6
Q

chorionic villus sampling; association with limb reduction defect when procedure is performed ____

A

Before 8 weeks

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7
Q

The risk of fetal loss with chorionic villus sampling(CVS) is

A

About 1%

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8
Q

Invasive procedure that allows analysis of fetal chromosomes from fetal cells in amniotic fluid

A

Amniocentesis

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9
Q

Amniocentesis results are available in

A

1-3 weeks

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10
Q

The risk for having a child with a chromosomal defect is greater in women _____

A

Of advanced maternal age (ama)

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11
Q

For genetic reasons an amniocentesis is ideally performed between

A

15-20 weeks

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12
Q

Amniocentesis may be done as early as ________ but this may lead to the development of fetal scoliosis or club foot due to _______

A

12 weeks

Due to reduced amount of amniotic fluid

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13
Q

Always obtain ______ after amnio is complete

A

Fetal heart rate

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14
Q

Optimal collection site for amniotic fluid

A

Away from the fetus

away from the central position portion of the placenta

away from the umbilical cord

near the maternal midline to avoid maternal uterine vessels

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15
Q

When performing an amniocentesis for multiple gestational pregnancies the first sac will be punctured and then what is injected into the first sack?

A

Indigo carmine dye

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16
Q

The use of ______ has also been reported in amniocentesis with multiple gestations(dye)

A

Methylene-blue and sterile air

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17
Q

Fetal blood is obtained through needle aspiration of the umbilical cord

A

Cordocentesis

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18
Q

Karyotype results from a cordocentesis are processed within ____

A

2-3 days

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19
Q

The fastest invasive procedure for genetic testing

A

Cordocentesis

Amniocentesis rapid results can be available within 24 hours, but only limited results are available (13, 18, 21, X/Y)

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20
Q

What are cordocentesisis typically used for?

A

Guidance for transfusions to treat fetal isoimmunization

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21
Q

Major protein in fetal serum

A

AFP

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22
Q

AFP is produced by what in early gestation?

A

yolk sac

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23
Q

AFP is produced by what in later gestation

A

fetal liver

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24
Q

AFP may be measured in _____ or from _______

A

maternal serum(MSAFP) or amniotic fluid(AFAFP)

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25
Q

common reason for elevated AFP

A

neural tube defects, anencephaly, open spina bifida

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26
Q

Why are neural tube defects common reasons for elevated AFP?

A

AFP leaks from the defect to enter the amniotic fluid and diffuses into maternal blood stream

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27
Q

elevation of AFP is based on levels:

A

greater than/equal to 2-2.5 multiples of the median(MOM)

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28
Q

MSAFP levels peak at

A

15-18 weeks gestation

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29
Q

2 common abdominal wall defects produce elevated AFP:

A

omphalocele and gastroschisis

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30
Q

Omphalocele: AFP leaks through the membrane that is encasing the herniated bowel or liver: ____ defect

A

closed defect

31
Q

Gastrochisis: AFP diffuses directly into the serum and amniotic fluid from herniated bowel, lacks covering membrane: ____ defect

A

open defect

32
Q

A fetus with a _____ lesion may produce increased levels of AFP

A

kidney lesion

33
Q

polycystic kidneys and UT obstruction may lead to significantly higher levels of AFP because:

A

abnormal filtration of AFP, kidney maldevelopment and UT leakage.

34
Q

frequent cause of high MSAFP levels ____

A

fetal death

35
Q

When the AFP is elevated (greater than 3 MOM) & the cranium and spine appear normal, the risk of the fetus having a spinal defect is:

A

cut in half

36
Q

low levels of AFP are associated with

A

trisomy 13, 18, 21, incorrect dates, fetal death, hydatidiform moles

37
Q

quad screen includes:

A

AFP, hCG, Unconjugated estriol, inhibin-A

38
Q

improves the sensitivity in detecting down syndrome ____(lab value)

A

inhibin-A

39
Q

Lab values for trisomy 21

A

high hCG, low/decreased AFP & estriol levels

40
Q

Trisomy 18 lab values

A

decreased hCP, AFP, & Estriol

41
Q

PAPP-A levels are decreased in pregnancies affected by _____

A

aneuploidy

42
Q

glycoprotein derived from trophoblastic tissue that is diffused into maternal circulation:

A

PAPP-A

43
Q

glycoprotein derived from the placenta:

A

hCG

44
Q

Normal karyotype consists of ____ chromosomes

A

46

45
Q

abnormality in number of chromosomes:

A

Aneuploidy

46
Q

cause of trisomy is usually:

A

failure of normal chromosomal division at meiosis

47
Q

condition caused by a single defective gene

A

autosomal dominant

48
Q

caused by a pair of defective genes

A

autosomal recessive

49
Q

disorders inherited by boys from their mothers:

A

X-linked disorders

50
Q

example of an X-linked condition in male fetuses:

A

aqueductal stenosis

51
Q

occurrence of gene mutation or chromosomal abnormality in portion of an individual’s cells

A

mosaicism

52
Q

NT is performed:

A

between 11-14 weeks gestation

53
Q

One of the most common chromosomal disorders

A

trisomy 21

54
Q

trisomy 21 is also known as

A

down syndrome

55
Q

trisomy 21 features:

A

duodenal atresia(double bubble sign), brachycephaly, flattened nasal ridge, hypertelorism(increased space between eyes), cystic hygroma(enlarged space behind neck), sandal gap foot, hypoplasia or absence of the middle phalanx of the 5th digit, clinodactyly(curving of 5th finger inward)

56
Q

trisomy 18 is also known as

A

Edwards syndrome

57
Q

2nd most common chromosomal abnormality

A

trisomy 18

58
Q

trisomy 18 features:

A

microcephaly(small head), choroid plexus cysts, clenched hands, rocker-bottom feet, cleft lip/palate, clubfoot

59
Q

trisomy 18: _____% of infants die within the first year of life

A

90%

60
Q

Trisomy 13 is also known as

A

Patau syndrome

61
Q

chromosomal abnormality that mainly involves the brain

A

trisomy 13

62
Q

trisomy 13 features:

A

holoprosencephaly, rocker-bottom feet, polydactyl(extra digits)

63
Q

trisomy 13: ___% of infants usually die within first months of life

A

80%

64
Q

complete extra set of chromosomes:

A

triploidy

65
Q

triploidy most often occurs as a result of:

A

the ova being fertilized by 2 sperm

66
Q

holoprosencephaly:

A

hypotelorism(close eyes)
proboscis(tube-like structure in middle of face)
cyclopia
single nostril nose

67
Q

triploidy is associated with (disease)

A

gestational trophoblastic disease/molar pregnancy, theca-lutein cyst, preeclampsia

68
Q

genetic abnormality marked by absence of X or Y chromosome

A

Turner’s syndrome

69
Q

genetic abnormality not associated with AMA

A

Turner’s syndrome

70
Q

most common finding in Turner’s syndrome:

A

cystic hygroma(fluid around back of neck)

71
Q

female infants who survive with Turner’s syndrome will have

A 
immature sexual development
amenorrhea
short stature
webbed neck
abnormal elbow angle
shield chest
72
Q

associated with 1st trimester increased NT and tachycardia

A

Turner’s syndrome

73
Q

most common cardiac anomaly with Turner’s syndrome

A

coarctation of the aorta

74
Q

identification of female gender with ______ strongly suggests Turner’s syndrome

A

cystic hygroma

OB-Hagen (17 decks)

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