PMID: 7542378Aug 1, 1995Paper

Fetal karyotyping for chromosome abnormalities after an unexplained elevated maternal serum alpha-fetoprotein screening

Obstetrics and Gynecology
L FeuchtbaumE B Hook

Abstract

To study the chromosome abnormality rate among women with elevated levels of maternal serum alpha-fetoprotein (MSAFP) and the types of chromosome abnormalities in this population, and to compare this rate with reports in the literature and the rate observed in the general population. We studied 8097 women who chose to undergo amniocentesis and fetal karyotyping after having an elevated MSAFP test of 2.5 multiples of the median (MOM) or higher. All abnormal karyotypes were reviewed and grouped according to whether the elevated MSAFP value could be explained by a ventral wall or neural tube defect. The overall chromosome abnormality rate was 13.83 per 1000 amniocenteses. The rate in the "unexplained" group was 10.92 per 1000 amniocenteses. Just over half (53%) of the abnormal karyotypes were autosomal anomalies, and 47% were sex chromosome abnormalities. The autosomal aneuploidies observed most frequently were triploidy and trisomy 13. The sex chromosome abnormalities observed most frequently were the XXY and XYY karyotypes. Women who have unexplained elevated MSAFP values of 2.5 MOM or greater have a twofold increase in the rate of chromosome abnormalities in their fetuses compared with the general population (P < or = .001). Th...Continue Reading

References

Nov 1, 1985·Prenatal Diagnosis·E TerzianA C Turnbull
Jun 1, 1988·Clinical Obstetrics and Gynecology·B K Burton
Sep 1, 1988·American Journal of Medical Genetics·L LustigG Tompkinson
Mar 1, 1989·American Journal of Medical Genetics·D E McFadden, D K Kalousek
Jun 1, 1987·Prenatal Diagnosis·A Tabor, J Philip
Mar 1, 1986·Prenatal Diagnosis·D B Flannery, S G Kahler
Jan 24, 1981·British Medical Journal·C GosdenD J Brock
Aug 1, 1984·American Journal of Obstetrics and Gynecology·B F Crandall, M Matsumoto

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