II. 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

III. 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%

IV. Protocol: Invasive Testing to confirm chromosomal abnormalities

  1. Chorionic Villus Sampling (10-13 weeks)
  2. Amniocentesis (16-18 weeks)

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Ontology: 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 (PSY) Techniques or procedures used to detect or identify specific abnormalities or characteristics of the fetus.
Definition (CSP) determination of the nature of a pathological condition or disease in the postimplantation embryo or fetus.
Concepts Diagnostic Procedure (T060)
MSH D011296
English Antenatal Diagnoses, Antenatal Diagnosis, Diagnoses, Antenatal, Diagnoses, Intrauterine, Diagnoses, Prenatal, Diagnosis, Antenatal, Diagnosis, Intrauterine, Diagnosis, Prenatal, Intrauterine Diagnoses, Intrauterine Diagnosis, Prenatal Diagnoses, Prenatal Diagnosis, PRENATAL DIAG, ANTENATAL DIAG, DIAG PRENATAL, DIAG ANTENATAL, INTRAUTERINE DIAG, DIAG INTRAUTERINE, antepartum diagnosis, antenatal diagnosis, prenatal diagnosis, diagnosis prenatal, Prenatal diagnosis
Swedish Fosterdiagnostik
Czech prenatální diagnóza
Finnish Sikiödiagnostiikka
French Diagnostic intra-utérin, Diagnostic anténatal, Diagnostic prénatal
Italian Diagnosi antenatale, Diagnosi intrauterina, Diagnosi prenatale
Polish Diagnostyka prenatalna
Japanese 出生前診断, 産前診断, 子宮内診断, 胎児診断, 診断-出生前
Norwegian Morkakeprøve, Fosterdiagnostikk, Prenatal diagnostikk, Intrauterin diagnostikk
Portuguese Diagnóstico Intrauterino, Diagnóstico Pré-Natal
German Intrauterine Diagnostik, Diagnostik, pränatale, Pränatale Diagnostik
Dutch Diagnose, intrauterine, Diagnose, prenatale
Spanish Diagnóstico Intrauterino, Diagnóstico Prenatal