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Maternal serum α-fetoprotein screening: Low and high values for detection of genetic abnormalities

  • Joe Leigh Simpson
    Correspondence
    Reprint requests: Joe Leigh Simpson, M.D., Department of Obstetrics and Gynecology, College of Medicine, University of Tennessee, Memphis, 853 Jefferson Ave., Memphis, TN 38163.
    Affiliations
    Department of Obstetrics and Gynecology Northwestern University Medical School Chicago, Illinois USA.

    Department of Pathology, Northwestern University Medical School Chicago, Illinois USA.
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  • Lora D. Baum
    Affiliations
    Department of Obstetrics and Gynecology Northwestern University Medical School Chicago, Illinois USA.

    Department of Pathology, Northwestern University Medical School Chicago, Illinois USA.
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  • Robert Marder
    Affiliations
    Department of Obstetrics and Gynecology Northwestern University Medical School Chicago, Illinois USA.

    Department of Pathology, Northwestern University Medical School Chicago, Illinois USA.
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  • Sherman Elias
    Affiliations
    Department of Obstetrics and Gynecology Northwestern University Medical School Chicago, Illinois USA.

    Department of Pathology, Northwestern University Medical School Chicago, Illinois USA.
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  • Carole Ober
    Affiliations
    Department of Obstetrics and Gynecology Northwestern University Medical School Chicago, Illinois USA.

    Department of Pathology, Northwestern University Medical School Chicago, Illinois USA.
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  • Alice O. Martin
    Affiliations
    Department of Obstetrics and Gynecology Northwestern University Medical School Chicago, Illinois USA.

    Department of Pathology, Northwestern University Medical School Chicago, Illinois USA.
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      Abstract

      In initiating a maternal serum α-fetoprotein screening program, we pursued not only elevated values for the detection of neural tube defects but also low values to detect trisomic fetuses. We detected neural tube defects (0.2%) as expected but were surprised by the efficacy with which low serum α-fetoprotein values identified aneuploid fetuses. In 1421 pregnant women, 132 (9.3%) showed maternal serum α-fetoprotein values <0.4 multiple of the median. After repeat sampling, 57 women still had low values. These 57 women and six others who were too anxious for repeat sampling underwent level I ultrasound examination with the following results: gestational age overestimated by 2 weeks (n = 8), fetal death (n = 1), and no explanation (n = 54). Of the 54, 49 underwent amniocentesis with detection of three aneuploid fetuses: trisomy 18 (n = 2) and trisomy 21 (n = 1); maternal ages were 27, 29, and 31 years, respectively. Autosomal aneuploidy did not occur in other women screened. We conclude that low maternal serum α-fetoprotein values could efficiently detect aneuploid fetuses, perhaps with greater sensitivity than previously predicted.

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      References

        • Leonard CO
        Serum AFP screening for neural tube defects.
        Clin Obstet Gynecol. 1981; 24: 1121
        • Nadler HL
        • Simpson JL
        Maternal serum AFP screening: promise not yet fulfilled.
        Obstet Gynecol. 1979; 54: 333
        • Merkatz IR
        • Nitowsky HM
        • Macri N
        • Johnson WE
        An association between low maternal serum α-fetoprotein and fetal chromosomal abnormalities.
        Am J Obstet Gynecol. 1984; 148: 886
        • Cuckle HS
        • Wald NJ
        • Lindenbaum RM
        Maternal serum alpha-fetoprotein measurement: a screening test for Down syndrome.
        Lancet. 1984; 1: 926
        • Macri JN
        • Weiss RR
        Prenatal serum α-fetoprotein screening for neural tube defects.
        Obstet Gynecol. 1982; 59: 663
        • Haddow JE
        • Kloza EM
        • Smith DE
        • Knight GJ
        Data from an alpha-fetoprotein pilot screening program in Maine.
        Obstet Gynecol. 1983; 62: 556
      1. Lancet. 1977; 1: 1323
        • Roberts CJ
        • Elder GH
        • Laurence KM
        • et al.
        The efficacy of a serum screening service for neural-tube defects: the South Wales experience.
        Lancet. 1983; 1: 1315
        • Burton BK
        • Sowers SG
        • Nelson LH
        Maternal serum α-fetoprotein screening in North Carolina: experience with more than twelve thousand pregnancies.
        Am J Obstet Gynecol. 1983; 146: 439
        • Fuhrmann W
        • Wendt P
        • Weitzel HK
        Maternal serum-AFP as screening test for Down syndrome.
        Lancet. 1984; 2: 413
      2. Martin AO, Liu K. Implications of low maternal serum AFP levels. Prenat Diagn (in press).

        • Hershey DW
        • Crandall BF
        • Perdue S
        Low maternal serum AFP combined with maternal age to estimate the risk of Down syndrome at birth.
        Am J Hum Genet. 1985; 37: A219
        • Schoenfeld M
        • Mahoney MJ
        • Greenstein RM
        • Saal HM
        • Baumgarten A
        Maternal serum alpha-fetoprotein (MSAFP) concentration and risk for Down syndrome (DS).
        Am J Hum Genet. 1985; 37: A226
        • Cuckle HS
        • Wald NJ
        • Lindenbaum RH
        • Jonasson J
        Amniotic fluid AFP levels and Down syndrome.
        Lancet. 1985; 1: 290
        • Hershey DW
        • Crandall BF
        • Schroth PS
        Maternal serum fetoprotein screening of fetal trisomies.
        Am J Obstet Gynecol. 1985; 153: 224
        • Hamilton MPR
        • Abdalla HI
        • Whitfield CR
        Significance of raised maternal serum α-fetoprotein in singleton pregnancies with normally formed fetuses.
        Obstet Gynecol. 1985; 65: 465