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Flashcards in Malformations And Shit Deck (47)
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31

3 Signs for DS from 1st Trimester Combined Screening

NT increase, PAPP-A decrease, hCG increase

32

3 Signs for Trisomy 13/18 from First Trimester Combined Screening

NT, PAPP-A, and hCG all increase

33

3 Things that Decrease AFP

Trisomy 21, trisomy 18, and impending fetal demise

34

High Risk for DS, Trisomy 13/18, and ONTD

DS: 1/270
Trisomy 13/18 - 1/100
ONTD - >2.5 MoM

35

3 Things Tested for in Second Trimester Triple Screen

AFP, hCG, and uE3

36

4 Things Tested for in 2nd Trimester Quadruple Screen

AFP, hCG, uE3, and DIA

37

Sign of Open-Neural Tube Defect (ONTD)

Very high AFP

38

4 Signs of DS from 2nd Trimester Quadruple Screen

Increased hCG
Decreased AFP
Increased DIA
Decreased uE3

39

3 Signs of Trisomy 13/18 from 2nd Trimester Triple Screen

Decreased AFP, hCG, and uE3

40

Soft Markers

US signs suggestive of abnormalities but not diagnostic

41

Prenatal Ultrasonography (first 2 trimesters)

1st Trimester usually finds proof of intact intrauterine pregnancy and confirms gestational age, and while it can find developmental defects, usually 2nd trimester notices these and more specific US is recommended

42

3 Kinds of Invasive Prenatal Diagnostic Tests

Amniocentesis
Chorionic Villi Sampling (CVS)
Percutaneous Umbilical Blood Sampling

43

Preimplantation Genetic Diagnosis (PGD)

IVF, then sample single cell from blastomere and diagnose w/ FISH or PCR and only implant healthy embryo

44

Benefit of Amniocentesis

Least risky

45

Benefit of CVS

Earliest and quickest results

46

Advanced Maternal Age vs. Advanced Paternal Age Risks

Maternal increases risk of aneuoploidy while paternal may increase risk of de novo AD muts

47

Cell-Free Fetal Nucleic Acid Screen

New procedure that tests fetal DNA fragments in maternal circulation, most specific and sensitive screen