OB Prenatal Screening

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Author:
choward04
ID:
221346
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OB Prenatal Screening
Updated:
2013-05-27 14:41:24
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OB
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OB
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  1. Who might benefit from genetic testing/counseling?
    • Mother or father w/a genetic condition
    • FH of genetic disease
    • Previous child with: retardation, anomalies, dysmophic features
    • AMA (adv mat age)
    • at risk ethnic group
  2. What are the main goals of prenatal genetic screening?
    • Diagnose NTD
    • (risk not affected by parental age)

    • Identify fetuses with aneuploidy
    • (risk increases with age)
  3. When does the neural tube close?
    10wks gestation
  4. What are some DS characteristics?
    • Flat nasal bridge
    • Small head with flattened occuput
    • wide spaced eyes with epicanthal folds
    • large tongue
    • short stubby fingers and simian crease
  5. ITA (Hyperglycosolated HCG)
    Produced early (peaks at 9 wks)

    ↑ in DS, twins, Trisomy 22

    ↓ Trisomy 18, 13, preeclampsia
  6. PAPP-A
    ↓ levels : 


    • Trisomy 21
    • Trisomy 18
    • Trisomy 13
    • Fetal demise
    • IUGR
  7. MSAFP
    (Maternal serum Alpha Fetoprotein)
    • Low levels:
    • Trisomy 21

    • High levels:
    • NTD (anencephaly, spina bifida) abdominal wall defects
  8. HCG
    • High levels:
    • Trisomy 21
    • Twin gestation

    • Low Levels:
    • Trisomy 18
  9. UE3 (Unconjugated estriol)
    Low levels ALL ABNORMAL
  10. Inhibin A (Dimeric inhibin A)
    High levels: Trisomy 21

    Low levels: PCOS
  11. What are MOM (multiples of the median)
    Indicated how far a result is from the median of all pregnancies at that Gestational age

    • 1.0 = NORMAL
    • (risk is never reported as "zero")
  12. When are MOMs adjusted
    • by ethnic group
    • for maternal weight
    • if IDDM
  13. What is a common reason for an abnormal MSAFP?
    • Incorrect gestational age
    • multifetal gestation
  14. 1st TM screening for Trisomy 21
    • 1. Maternal Age
    • 2. ITA
    • 3. PAPP-A
    • 4. Nuchal Translucency
  15. 2nd TM screening for Trisomy 21
    • 1. AFP
    • 2. HCG
    • 3. Unconjugated estriol (uE3)
    • 4. ITA or DIA
  16. What is FNT (fetal nuchal translucency) used for and when is it done?
    First trimester screening tool (12-13 wks) to identify

    • Trisomy 18, 21
    • Fetal Cardiac anomaly

    Fetus compensates for delayed lymphatic connections by forcing excess drainage into nuchal area
  17. What does the quad screen detect?
    • Trisomy 21;
    • HIGH: hCG and Inhibin A
    • LOW: MSAFP & uE3

    • Trisomy 18:
    • LOW: AFP, HCG, ue3
  18. What is the optimal time for CVS?
    9-11 wks
  19. What happens with an "integrated approach" to screening?
    • Everyone receives screening in 1st and 2nd TM
    • No report given after 1st TM screen
    • After 2nd TM a single result combining both values is reported.
    • High risk (>1:270) gets amnio

    NO ONE IS DIAGNOSED IN 1ST TM
  20. Which screening option is the optimal approach?
    Contingency Screening
  21. What is the contingency approach?
    • Act on results of 1st TM
    •   1. High risk (>1:30) - - CVS
    •   2. Intermediate (1:30 to 1:1500) 2nd TM                 Quad
    •   3. Very low risk (1:1500), no further testing

    75% only get 1st TM screening
  22. Explain the Sequential Approach..
    • Get 1st TM screen - - Act on results
    • High risk (>1:30) - Offer CVS
    • NL risk - 2nd TM Quad screen
    • Combine results reported
    • Amnio offered if risk >1:270

    Bottom Line: 98% receive 2nd TM Quad screen
  23. What is the next step after getting a POSITIVE test result?
    Ensure the dates are correct.

    Based on U/S or LMP
  24. What test has the best Tri 21 detection rate?



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    Quad screen + genetic U/S

    (90% detection rate)



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