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An association between low maternal serum α-fetoprotein and fetal chromosomal abnormalities

  • Irwin R. Merkatz
    Correspondence
    Request reprints: Dr. Irwin R. Merkatz, Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, 1300 Morris Park Ave., Room 502, Bronx, New York 10461.
    Affiliations
    Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, New York, USA

    Department of Pediatrics and Genetics, Albert Einstein College of Medicine, Bronx, New York USA

    the Department of Obstetrics and Gynecology, State University of New York at Stony Brook, Stony Brook, New York, USA

    the Genetic Center, Case Western Reserve University Cleveland, Ohio USA.
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  • Harold M. Nitowsky
    Affiliations
    Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, New York, USA

    Department of Pediatrics and Genetics, Albert Einstein College of Medicine, Bronx, New York USA

    the Department of Obstetrics and Gynecology, State University of New York at Stony Brook, Stony Brook, New York, USA

    the Genetic Center, Case Western Reserve University Cleveland, Ohio USA.
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  • James N. Macri
    Affiliations
    Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, New York, USA

    Department of Pediatrics and Genetics, Albert Einstein College of Medicine, Bronx, New York USA

    the Department of Obstetrics and Gynecology, State University of New York at Stony Brook, Stony Brook, New York, USA

    the Genetic Center, Case Western Reserve University Cleveland, Ohio USA.
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  • Walter E. Johnson
    Affiliations
    Department of Obstetrics and Gynecology, Albert Einstein College of Medicine, Bronx, New York, USA

    Department of Pediatrics and Genetics, Albert Einstein College of Medicine, Bronx, New York USA

    the Department of Obstetrics and Gynecology, State University of New York at Stony Brook, Stony Brook, New York, USA

    the Genetic Center, Case Western Reserve University Cleveland, Ohio USA.
    Search for articles by this author
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      Abstract

      An index case of “undetectable” maternal serum α-fetoprotein at 16 weeks in the first pregnancy of a 28-year-old woman was associated with birth of an infant with trisomy 18. This fortuitous finding stimulated a retrospective study of prenatally diagnosed chromosomal abnormalities. From among a series of 3,862 genetic amniocenteses, 32 cases of fetal autosomal trisomy were diagnosed for which corresponding maternal serum and amniotic fluid α-fetoprotein data could be retrieved. From a second laboratory, nine additional cases were added. The maternal serum α-fetoprotein levels expressed as multiples of the median were significantly lower in distribution for these 41 women than those from a group of normal matched control subjects (p < 0.001). Since maternal age is shown to be a less than adequate predictor of autosomal trisomic birth, we proposed that a low level of maternal serum α-fetoprotein obtained through routine screening may prove to be valuable in improving the prenatal detection of these serious anomalies.
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