Obstetrics Book

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Antenatal ScreeningAka: Prenatal Diagnosis

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  1. Protocol: First Trimester Screening
    1. Combination screening recommended
      1. Pregnancy-Associated Plasma Protein A (PAPP-A) and
      2. Nuchal Translucency (performed at 11 to 13 weeks)
    2. Efficacy
      1. Detecting Trisomy 21 (Down Syndrome) in all women
        1. Test Sensitivity: 78-89% (>90% if age over 35 years)
        2. Test Specificity: 95% (only 78-86% if age over 35 years)
      2. Detecting Trisomy 18
        1. Test Sensitivity: 90%
        2. Test Specificity: 98%
    3. Additional findings
      1. Low levels of both markers are associated with adverse pregnancy outcomes
  2. Protocol: Second Trimester Screening
    1. Combination screening
      1. Serum testing (Quad Screen) and
      2. Second Trimester Ultrasound
        1. See Trisomy Findings on Fetal Ultrasound
    2. Efficacy: Amniocentesis with Quad Screen
      1. Test Sensitivity: Approaches 90%
      2. Test Specificity: 95-8%
  3. Protocol: Invasive Testing to confirm chromosomal abnormalities
    1. Chorionic Villus Sampling (10-13 weeks)
    2. Amniocentesis (16-18 weeks)
  4. References

Prenatal Diagnosis (C0033053)

Definition (MSH)Determination of the nature of a pathological condition or disease in the postimplantation embryo, fetus, or pregnant female before birth.
Definition (CSP)determination of the nature of a pathological condition or disease in the postimplantation embryo or fetus.
ConceptsDiagnostic Procedure (T060)
MSHD011296
EnglishANTENATAL DIAG, Antenatal Diagnoses, Antenatal Diagnosis, antepartum diagnosis, DIAG ANTENATAL, DIAG INTRAUTERINE, DIAG PRENATAL, INTRAUTERINE DIAG, Intrauterine Diagnoses, Intrauterine Diagnosis, PRENATAL DIAG, Prenatal Diagnoses, Prenatal Diagnosis
Parent Conceptssystem-specific diagnostic method (C0679561), Diagnosis (C0011900), Diagnostic Techniques, Obstetrical and Gynecological (C0011913)
SourcesAOD, CSP, LCH, MSH
Derived from the NIH UMLS (Unified Medical Language System)



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