genetic prenatal screening Flashcards by Unknown Unknown

trisomy 21

down syndrome

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trisomy 18

edward syndrome

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trisomy 13

patau syndrome

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risk factors for chromosomal abnormalities

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

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sickle cell

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

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a/b thalassemia

mediterranean (beta), asian origin (a)

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tay-sachs disease

Ashkenazi Jewish, both parents must carry mutated gene

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caucasians of northern europe descent

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Huntington’s disease

replication error

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down syndrome complications

increase incidence of respiratory infections and leukemia

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trisomy 16

the lethal anomaly occurs frequently in 1st trimester spontaneous abortion

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what is a common congenital anomalies

neural tube defects

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2nd most common major congenital abnormality in US

neural tube defects

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which type of neural tube defect is most common

myelomeningocele

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which type of neural tube defect is most lethal

anencephaly

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what is the test of choice for neural tube defects

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when is maternal serum screening ideally performed

16-22 weeks

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2 key test for neural tube defects

folic acid and maternal serum and US screening

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what does ACOG states

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

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when does visit occur for the 1st trimester

every 4 weeks until 28th weeks

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how often is the visit for 3rd trimester

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

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what screening is recommended in the 1st trimester

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

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cell free DNA

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

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what does serum markers assess for

all the trisomy disorders

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PPAP-A

protein produced by the placenta needed for implantation process

decrease in PPAP-A in the 1st trimester indicates

Down syndrome

Beta-hCG that indicates an abnormalities

2x as high in pregnancy with Down syndrome

which US is preferred in the 1st trimester

transvaginal

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

nuchal translucency, seen in 10-14 weeks

what is abnormal nuchal translucency

more fluid in normal indicates abnormalities (trisomy)

what is included in the 2nd trimester screenings

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

what does 2nd trimester US look for

cardiac abnormalities, US markers, NTD

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

when do you conduct the glucose test

24-28 weeks

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

glucose tolerance test

when do you perform the strep b test

36-37+6 days

what treatment can be given if the mother has strep B

PCN, if allergic then clindamycin

what can cause erythoblastosis fetalis

when a Rh - mom with Rh+ fetus blood mixes

what other times can a mom produce the abs for Rh

miscarriage, ectopic pregnancy, induced abortion

what is alloimmunization

formation of maternal antibodies

when do you screen for Rh

1st prenatal visit and again at 28 weeks

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

when do you administer the Rhlg

28th weeks and within 72 hours after delivery

what can trigger a maternal immune response

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

if the patient already has the antibodies what can you do

assess titers

how often do you assess titers for Rh

monthly until 24 weeks and then every two weeks

what happens if the titer remains low

delivery can occur at term

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

18 weeks

what is the definitive approach in diagnosing fetal anemia and acidosis

fetal blood sampling by cordocentesis

what happens if the fetal hct is <30%

intrauterine fetal transfusion with type o, RhD-

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

37 weeks

when is chorionic villus sampling performed

10-13 weeks

what sample does chronic villus sampling get

placenta

CI for chorionic villus sampling

maternal alloimmunization or IUD is in situ

when is amniocentesis performed

15-20 weeks

what is the accuracy of amniocentesis

>99%

risk associated with amniocentesis

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

cordocentesis/ percutaneous umbilical blood sampling

needle is advanced into the umbilical vein under US guidance

when is cordocentesis performed

>20 weeks

when are fetal assessments done

32-34 weeks

what is used to assess fetal growth

fundal heights and US

when is non stress test performed

32 weeks

what is considered reactive

> 2 HR accelerations occur in a 20 minute period

nonreactive

not enough acceleration occur in a 40 min period

what is a normal fetal HR in uterine contraction

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

when is contraction stress test performed

34 weeks

what is used for contraction stress test (equipment)

tocodynamometer and fetal HR transducer

what is a positive test in CST

decrease in fetal HR during contraction or deceleration

what does late deceleration indicate

ueteroplacental insufficiency

what does early deceleration mean

pressure on fetal head from birth canal

variable deceleration indicate

transient umbilical cord compression

when is fetal scape sampling performed

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

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

BPP

what does biophysical profile (BPP) entail

monitor fetal HR like NST + US

what score of BPP is reassuring

8-10

what is inconclusive in BPP

when is further testing need on a BPP score

what does doppler US of umbilical artery assess

resistance to blood flow to placenta

when does fetal lung fully develop

36 weeks

what is the delivery averages for twins

average delivery time for triplets

risk factors for having twins

fertility treatments, advance maternal age, FH of twins

diamniotic/dichorionic

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

diagnostic/monochorionic

1 placenta, 2 amnios, 1 chorion

Monoamniotic/monochorionic

1 placenta, 1 amnion, 1 chorion

conjoined twins

division after the 12th day is incomplete