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Related Experiment Videos

Acetylator phenotype and congenital malformations.

C Stoll1, M P Roth, B Dott

  • 1Institut de Puericulture, CHU, Strasbourg, France.

European Journal of Clinical Pharmacology
|January 1, 1989
PubMed
Summary

Maternal acetylator phenotype, a measure of drug metabolism, does not appear to increase the risk of congenital malformations in newborns. This study found no difference in acetylator status between mothers of malformed infants and control groups.

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Area of Science:

  • Pharmacogenetics
  • Teratology
  • Human Genetics

Background:

  • The maternal acetylator phenotype influences drug metabolism during pregnancy.
  • Congenital malformations represent a significant public health concern.
  • Previous hypotheses suggested a link between maternal acetylator status and fetal malformations.

Purpose of the Study:

  • To investigate the association between maternal acetylator phenotype and the occurrence of congenital malformations.
  • To determine if an unusual maternal acetylator phenotype predisposes to fetal abnormalities.

Main Methods:

  • Assessed acetylator phenotype by measuring urinary sulphadimidine and its acetylated metabolite.
  • Included control women, mothers of malformed children, and fathers of malformed newborns.

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  • Studied specific malformations: facial clefts, spina bifida, and congenital heart disease.

    • Main Results:

    • The acetylator phenotype was not altered by pregnancy.
    • 49% of control women were rapid acetylators.
    • The distribution of slow and fast acetylators among mothers of malformed children (52.8% slow, 47.2% fast) and fathers (50.5% slow, 49.5% fast) was similar to controls.

    Conclusions:

    • Maternal acetylator phenotype is not a predisposing factor for the studied congenital malformations.
    • No significant difference in acetylator phenotype exists between mothers of malformed infants and the general population.