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

genetic prenatal screening Flashcards

(86 cards)

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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
PPAP-A
protein produced by the placenta needed for implantation process
26
decrease in PPAP-A in the 1st trimester indicates
Down syndrome
27
Beta-hCG that indicates an abnormalities
2x as high in pregnancy with Down syndrome
28
which US is preferred in the 1st trimester
transvaginal
29
when can the fluid in the fetal neck be seen and what it is called
nuchal translucency, seen in 10-14 weeks
30
what is abnormal nuchal translucency
more fluid in normal indicates abnormalities (trisomy)
31
what is included in the 2nd trimester screenings
triple screen/quad screenings, 2nd trimester US, NTD screening
32
what does 2nd trimester US look for
cardiac abnormalities, US markers, NTD
33
what is included in the 3rd trimester screenings
glucose challenge test, group B strep, Hgb/Hct, antibodies in Rh negative patients, STI, US if fetal growth restriction is considered
34
when do you conduct the glucose test
24-28 weeks
35
if the glucose challenge test is abnormal what other test needs to be done
glucose tolerance test
36
when do you perform the strep b test
36-37+6 days
37
what treatment can be given if the mother has strep B
PCN, if allergic then clindamycin
38
what can cause erythoblastosis fetalis
when a Rh - mom with Rh+ fetus blood mixes
39
what other times can a mom produce the abs for Rh
miscarriage, ectopic pregnancy, induced abortion
40
what is alloimmunization
formation of maternal antibodies
41
when do you screen for Rh
1st prenatal visit and again at 28 weeks
42
is Rho gam/Rh immunoglobulin helpful if you already produced the antibody for Rh
No
43
when do you administer the Rhlg
28th weeks and within 72 hours after delivery
44
what can trigger a maternal immune response
childbirth, delivery of placenta, ectopic pregnancy, abdominal trauma, amniocentesis
45
if the patient already has the antibodies what can you do
assess titers
46
how often do you assess titers for Rh
monthly until 24 weeks and then every two weeks
47
what happens if the titer remains low
delivery can occur at term
48
when do you start assessing fetal wellbeing in mother with Anti-D antibody
18 weeks
49
what is the definitive approach in diagnosing fetal anemia and acidosis
fetal blood sampling by cordocentesis
50
what happens if the fetal hct is <30%
intrauterine fetal transfusion with type o, RhD-
51
when should labor be induced if there is a concern for hemolysis
37 weeks
52
when is chorionic villus sampling performed
10-13 weeks
53
what sample does chronic villus sampling get
placenta
54
CI for chorionic villus sampling
maternal alloimmunization or IUD is in situ
55
when is amniocentesis performed
15-20 weeks
56
what is the accuracy of amniocentesis
>99%
57
risk associated with amniocentesis
early amniocentesis(11-13 weeks) has a higher rate of pregnancy loss and complications
58
cordocentesis/ percutaneous umbilical blood sampling
needle is advanced into the umbilical vein under US guidance
59
when is cordocentesis performed
>20 weeks
60
when are fetal assessments done
32-34 weeks
61
what is used to assess fetal growth
fundal heights and US
62
when is non stress test performed
32 weeks
63
what is considered reactive
> 2 HR accelerations occur in a 20 minute period
64
nonreactive
not enough acceleration occur in a 40 min period
65
what is a normal fetal HR in uterine contraction
3-5 contractions in 10 minute window, each lasting 30-40 sec
66
when is contraction stress test performed
34 weeks
67
what is used for contraction stress test (equipment)
tocodynamometer and fetal HR transducer
68
what is a positive test in CST
decrease in fetal HR during contraction or deceleration
69
what does late deceleration indicate
ueteroplacental insufficiency
70
what does early deceleration mean
pressure on fetal head from birth canal
71
variable deceleration indicate
transient umbilical cord compression
72
when is fetal scape sampling performed
during active labor and it is performed if fetal HR monitoring does not provide enough info
73
what test is performed give 1) non reactive NST 2) + CST
BPP
74
what does biophysical profile (BPP) entail
monitor fetal HR like NST + US
75
what score of BPP is reassuring
8-10
76
what is inconclusive in BPP
6
77
when is further testing need on a BPP score
<4
78
what does doppler US of umbilical artery assess
resistance to blood flow to placenta
79
when does fetal lung fully develop
36 weeks
80
what is the delivery averages for twins
35
81
average delivery time for triplets
32
82
risk factors for having twins
fertility treatments, advance maternal age, FH of twins
83
diamniotic/dichorionic
2 placenta, 2 amnios, 2 chorions or 1 fused placenta, 2 amnions, 2 chorions
84
diagnostic/monochorionic
1 placenta, 2 amnios, 1 chorion
85
Monoamniotic/monochorionic
1 placenta, 1 amnion, 1 chorion
86
conjoined twins
division after the 12th day is incomplete

Women's Health Exam 3 (4 decks)

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