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Women's Health Exam 3 > genetic prenatal screening > Flashcards

genetic prenatal screening Flashcards

1
Q

trisomy 21

A

down syndrome

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2
Q

trisomy 18

A

edward syndrome

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3
Q

trisomy 13

A

patau syndrome

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4
Q

risk factors for chromosomal abnormalities

A

advance maternal age (>35), previous pregnancy affected by chromosomal abnormalities, history of early pregnancy loss, advance paternal age >50, ethnicity

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5
Q

sickle cell

A

AA MC, increase risk of HTN and DVTs in pregnancy, miscarriage and low birth weight

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6
Q

a/b thalassemia

A

mediterranean (beta), asian origin (a)

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7
Q

tay-sachs disease

A

Ashkenazi Jewish, both parents must carry mutated gene

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8
Q

CF

A

caucasians of northern europe descent

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9
Q

Huntington’s disease

A

replication error

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10
Q

down syndrome complications

A

increase incidence of respiratory infections and leukemia

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11
Q

trisomy 16

A

the lethal anomaly occurs frequently in 1st trimester spontaneous abortion

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12
Q

what is a common congenital anomalies

A

neural tube defects

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13
Q

2nd most common major congenital abnormality in US

A

neural tube defects

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14
Q

which type of neural tube defect is most common

A

myelomeningocele

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15
Q

which type of neural tube defect is most lethal

A

anencephaly

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16
Q

what is the test of choice for neural tube defects

A

US

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17
Q

when is maternal serum screening ideally performed

A

16-22 weeks

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18
Q

2 key test for neural tube defects

A

folic acid and maternal serum and US screening

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19
Q

what does ACOG states

A

high quality 2nd trimester fetal anatomy US is an appropriate testing for NTD 18-22 weeks

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20
Q

when does visit occur for the 1st trimester

A

every 4 weeks until 28th weeks

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21
Q

how often is the visit for 3rd trimester

A

visit every 2 weeks until 36 weeks and then >36 weeks weekly

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22
Q

what screening is recommended in the 1st trimester

A

10-13 weeks of gestation
- assessment of cell free DNA/NIPTS
-US for nuchal translucency or biochemical markers

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23
Q

cell free DNA

A

looks for any abnormalities in the chromosome, if + then so an invasive diagnostic testing

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24
Q

what does serum markers assess for

A

all the trisomy disorders

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25
Q

PPAP-A

A

protein produced by the placenta needed for implantation process

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26
Q

decrease in PPAP-A in the 1st trimester indicates

A

Down syndrome

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27
Q

Beta-hCG that indicates an abnormalities

A

2x as high in pregnancy with Down syndrome

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28
Q

which US is preferred in the 1st trimester

A

transvaginal

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29
Q

when can the fluid in the fetal neck be seen and what it is called

A

nuchal translucency, seen in 10-14 weeks

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30
Q

what is abnormal nuchal translucency

A

more fluid in normal indicates abnormalities (trisomy)

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31
Q

what is included in the 2nd trimester screenings

A

triple screen/quad screenings, 2nd trimester US, NTD screening

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32
Q

what does 2nd trimester US look for

A

cardiac abnormalities, US markers, NTD

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33
Q

what is included in the 3rd trimester screenings

A

glucose challenge test, group B strep, Hgb/Hct, antibodies in Rh negative patients, STI, US if fetal growth restriction is considered

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34
Q

when do you conduct the glucose test

A

24-28 weeks

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35
Q

if the glucose challenge test is abnormal what other test needs to be done

A

glucose tolerance test

36
Q

when do you perform the strep b test

A

36-37+6 days

37
Q

what treatment can be given if the mother has strep B

A

PCN, if allergic then clindamycin

38
Q

what can cause erythoblastosis fetalis

A

when a Rh - mom with Rh+ fetus blood mixes

39
Q

what other times can a mom produce the abs for Rh

A

miscarriage, ectopic pregnancy, induced abortion

40
Q

what is alloimmunization

A

formation of maternal antibodies

41
Q

when do you screen for Rh

A

1st prenatal visit and again at 28 weeks

42
Q

is Rho gam/Rh immunoglobulin helpful if you already produced the antibody for Rh

A

No

43
Q

when do you administer the Rhlg

A

28th weeks and within 72 hours after delivery

44
Q

what can trigger a maternal immune response

A

childbirth, delivery of placenta, ectopic pregnancy, abdominal trauma, amniocentesis

45
Q

if the patient already has the antibodies what can you do

A

assess titers

46
Q

how often do you assess titers for Rh

A

monthly until 24 weeks and then every two weeks

47
Q

what happens if the titer remains low

A

delivery can occur at term

48
Q

when do you start assessing fetal wellbeing in mother with Anti-D antibody

A

18 weeks

49
Q

what is the definitive approach in diagnosing fetal anemia and acidosis

A

fetal blood sampling by cordocentesis

50
Q

what happens if the fetal hct is <30%

A

intrauterine fetal transfusion with type o, RhD-

51
Q

when should labor be induced if there is a concern for hemolysis

A

37 weeks

52
Q

when is chorionic villus sampling performed

A

10-13 weeks

53
Q

what sample does chronic villus sampling get

A

placenta

54
Q

CI for chorionic villus sampling

A

maternal alloimmunization or IUD is in situ

55
Q

when is amniocentesis performed

A

15-20 weeks

56
Q

what is the accuracy of amniocentesis

A

> 99%

57
Q

risk associated with amniocentesis

A

early amniocentesis(11-13 weeks) has a higher rate of pregnancy loss and complications

58
Q

cordocentesis/ percutaneous umbilical blood sampling

A

needle is advanced into the umbilical vein under US guidance

59
Q

when is cordocentesis performed

A

> 20 weeks

60
Q

when are fetal assessments done

A

32-34 weeks

61
Q

what is used to assess fetal growth

A

fundal heights and US

62
Q

when is non stress test performed

A

32 weeks

63
Q

what is considered reactive

A

> 2 HR accelerations occur in a 20 minute period

64
Q

nonreactive

A

not enough acceleration occur in a 40 min period

65
Q

what is a normal fetal HR in uterine contraction

A

3-5 contractions in 10 minute window, each lasting 30-40 sec

66
Q

when is contraction stress test performed

A

34 weeks

67
Q

what is used for contraction stress test (equipment)

A

tocodynamometer and fetal HR transducer

68
Q

what is a positive test in CST

A

decrease in fetal HR during contraction or deceleration

69
Q

what does late deceleration indicate

A

ueteroplacental insufficiency

70
Q

what does early deceleration mean

A

pressure on fetal head from birth canal

71
Q

variable deceleration indicate

A

transient umbilical cord compression

72
Q

when is fetal scape sampling performed

A

during active labor and it is performed if fetal HR monitoring does not provide enough info

73
Q

what test is performed give
1) non reactive NST
2) + CST

A

BPP

74
Q

what does biophysical profile (BPP) entail

A

monitor fetal HR like NST + US

75
Q

what score of BPP is reassuring

A

8-10

76
Q

what is inconclusive in BPP

A

6

77
Q

when is further testing need on a BPP score

A

<4

78
Q

what does doppler US of umbilical artery assess

A

resistance to blood flow to placenta

79
Q

when does fetal lung fully develop

A

36 weeks

80
Q

what is the delivery averages for twins

A

35

81
Q

average delivery time for triplets

A

32

82
Q

risk factors for having twins

A

fertility treatments, advance maternal age, FH of twins

83
Q

diamniotic/dichorionic

A

2 placenta, 2 amnios, 2 chorions or 1 fused placenta, 2 amnions, 2 chorions

84
Q

diagnostic/monochorionic

A

1 placenta, 2 amnios, 1 chorion

85
Q

Monoamniotic/monochorionic

A

1 placenta, 1 amnion, 1 chorion

86
Q

conjoined twins

A

division after the 12th day is incomplete

Women's Health Exam 3 (4 decks)

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