| Noninvasive Prenatal Diagnosis of Common Fetal Chromosomal Aneuploidies by Maternal Plasma DNA Sequencing. | |
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MedLine Citation:
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PMID: 22070770 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Abstract Objective ? To develop a new bioinformatic method in the noninvasive prenatal identification of common fetal aneuploidies using massively parallel sequencing on maternal plasma. Methods ? Massively parallel sequencing was performed on plasma DNA samples from 108 pregnant women (median gestation: 12(+5) week) immediately before chorionic villus sampling or amniocentesis. Data were analyzed using a novel z-score method with internal reference chromosome. The diagnostic accuracies of the fetal karyotyping status were compared against two previously reported z-score methods ? one without adjustment and the other with GC correction. Results ? A total of 32 cases with fetal aneuploidy were confirmed by conventional karyotyping, including 11 cases of trisomy 21, 10 cases of trisomy 18, 2 cases of trisomy 13, 8 cases of Turner syndrome (45, XO) and one case of Klinefelter syndrome (47, XXY). Using the z-score method withoutreference adjustment, the detection rate for Trisomy 21, Trisomy 18, Trisomy 13, Turner Syndrome, and Klinefelter?s syndrome is 100%, 40%, 0%, 88% and 0% respectively. Using the z-score method with GC correction, the detection rate increased to 100% for Trisomy 21, 90% for Trisomy 18, 100% for Trisomy 13. By using the z-score method with internal reference, the detection rate increased to 100% for all aneuploidies. The false positive rate was 0% for all three methods. Conclusion ? This massively parallel sequencing-based approach, combined with the improved z-score test methodology enables the prenatal diagnosis of most common aneuploidies with a high degree of accuracy, even in the first trimester of pregnancy. |
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Authors:
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Tze Kin Lau; Fang Chen; Xiaoyu Pan; Ritsuko K Pooh; Fuman Jiang; Yihan Li; Hui Jiang; Xuchao Li; Shengpei Chen; Xiuqing Zhang |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-11-10 |
Journal Detail:
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Title: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians Volume: - ISSN: 1476-4954 ISO Abbreviation: - Publication Date: 2011 Nov |
Date Detail:
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Created Date: 2011-11-10 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101136916 Medline TA: J Matern Fetal Neonatal Med Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology. MetroHealth Medical Center, Case Western Reserve University School of Medicine, Cleveland, OH. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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