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Related Experiment Videos

First-trimester alpha-fetoprotein screening for Down syndrome

W Fuhrmann1, K Altland, V Jovanovic

  • 1Institut für Humangenetik, Universität Giessen, Germany.

Prenatal Diagnosis
|March 1, 1993
PubMed
Summary
This summary is machine-generated.

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Maternal serum alpha-fetoprotein (MSAFP) screening in the first trimester is not effective for detecting Down syndrome (DS) or trisomy 18. Early gestational age limits the utility of MSAFP levels for identifying high-risk pregnancies before chorionic villus sampling (CVS).

Area of Science:

  • Prenatal diagnostics
  • Biochemical screening
  • Maternal serum analysis

Background:

  • Second-trimester maternal serum biochemical screening for chromosomal aneuploidies is established.
  • First-trimester screening is desirable to preserve options like chorionic villus sampling (CVS).
  • Maternal serum alpha-fetoprotein (MSAFP) is a common biochemical marker.

Purpose of the Study:

  • To evaluate the efficacy of first-trimester maternal serum alpha-fetoprotein (MSAFP) for screening Down syndrome (DS).
  • To assess MSAFP's utility in identifying trisomy 18 pregnancies in early gestation.
  • To determine suitable MSAFP cut-off levels for first-trimester risk assessment prior to CVS.

Main Methods:

  • Maternal serum alpha-fetoprotein (MSAFP) concentrations were measured in 2471 women.

Related Experiment Videos

  • Samples were collected in the first trimester, immediately before chorionic villus sampling (CVS).
  • MSAFP levels were analyzed in relation to fetal chromosomal status (normal, DS, trisomy 18).

    • Main Results:

    • MSAFP levels tended to be lower in Down syndrome pregnancies compared to chromosomally normal pregnancies.
    • Neither a 0.5 MOM nor a 0.6 MOM cut-off for MSAFP effectively identified high-risk DS pregnancies in the first trimester.
    • MSAFP levels were generally lower in trisomy 18 pregnancies than in normal or DS pregnancies, but cut-offs were unsuitable.

    Conclusions:

    • First-trimester MSAFP measurement is not a reliable method for screening Down syndrome or trisomy 18.
    • Established cut-off levels for MSAFP are unsuitable for early gestational risk assessment.
    • Alternative or supplementary first-trimester screening markers are needed for aneuploidy detection.