First-trimester maternal serum alpha-fetoprotein and human chorionic gonadotropin screening for chromosome defects |
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| Authors: | Linda Nebiolo Mehmet Ozturk Bruno Brambati Susan Miller Jack Wands Aubrey Milunsky MD |
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| Affiliation: | 1. Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine;2. Molecular Hepatohgy Laboratory, Department of Medicine, Massachusetts General Hospital, Cancer Center and Harvard Medical School;3. L. Mangiagalli Clinic, First Institute of Obstetrics and Gynaecology, University of Milan, Milan, Italy |
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| Abstract: | The aim of this study was to determine the efficacy of combined maternal serum alpha-fetoprotein (MSAFP) and maternal serum human chorionic gonadotropin (MShCG) screening in detecting chromosome defects in the first trimester of pregnancy. Sera of 492 women (previously assayed for MSAFP) were analysed for MShCG under code without knowledge of cytogenetic results. Overall, 48 of 492 patients (9·8 per cent) had either an MSAFP multiple of the median ⩽0·5 or an MShCG β/a z ratio multiple of the median ⩽ 0·25, eight of whom had a fetus with a serious chromosome defect. A third of fetuses with Down' s syndrome and 83 per cent with trisomy 18 were detected at a potential‘cost’ of providing chorionic villus sampling or amniocentesis in 8·6 percent of women screened. |
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| Keywords: | Chromosome defects Maternal serum alpha-fetoprotein Human chorionic gonadotropin Trisomy |
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