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Related Experiment Videos

Low MSAFP levels and Williams syndrome

B N Chodirker1, C R Greenberg, N G Giddins

  • 1Department of Human Genetics, University of Manitoba and Health Sciences Centre, Winnipeg, Canada. chodirk@umanitoba.ca

American Journal of Medical Genetics
|December 31, 1997
PubMed
Summary

Maternal serum screening may identify lower alpha-fetoprotein levels in pregnancies affected by Williams syndrome (WS). This finding could aid in genetic counseling for women undergoing prenatal screening for WS, a condition linked to elastin gene deletion.

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Area of Science:

  • Genetics
  • Maternal-Fetal Medicine
  • Biochemistry

Background:

  • Williams syndrome (WS) is a genetic disorder often caused by a deletion of the elastin gene.
  • Prenatal screening is crucial for early detection and management of genetic conditions.
  • Maternal serum alpha-fetoprotein (MSAFP) is a common biomarker used in prenatal screening.

Purpose of the Study:

  • To investigate the association between Williams syndrome and maternal serum alpha-fetoprotein (MSAFP) levels.
  • To determine if MSAFP levels are altered in pregnancies with fetal Williams syndrome.
  • To assess the implications for prenatal counseling.

Main Methods:

  • Retrospective analysis of MSAFP levels in 5 pregnant women.
  • Fetal diagnosis of Williams syndrome confirmed post-screening.

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  • MSAFP levels reported as multiples of the median (MOM).

    • Main Results:

    • MSAFP levels in the 5 cases ranged from 0.5 to 0.8 MOM.
    • Observed MSAFP levels were consistently lower than the median.
    • This suggests a potential association between lower MSAFP and Williams syndrome.

    Conclusions:

    • Lower MSAFP levels may be indicative of Williams syndrome during prenatal screening.
    • This finding warrants further investigation and validation.
    • The results have implications for genetic counseling following abnormal maternal serum screening results.