| Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment. | |
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MedLine Citation:
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PMID: 20691415 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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OBJECTIVE: To compare the indications for invasive prenatal testing resulting in the detection of translocation Down syndrome and complete trisomy 21. STUDY DESIGN: This case control study was based on a large amniocentesis and chorionic villi samples database (n = 534,795). All specimens with translocation Down syndrome (n = 203) comprised the translocation group and were compared with a maternal age-matched group (4 to 1, n = 812) in which complete trisomy 21 was detected. Women with a normal karyotype were randomly selected (n = 812) and served as controls. Indications for invasive testing were compared among the 3 paired groups using χ(2) analysis. RESULTS: There were no differences in the incidence of abnormal first- and second-trimester screening tests between the translocation Down syndrome and the complete trisomy 21 groups. History of prior aneuploidy was significantly more frequent in the translocation Down syndrome group, as compared with either complete trisomy 21 fetuses or normal controls. CONCLUSION: Fetuses with translocation Down syndrome present with the same screening abnormalities as fetuses with complete trisomy 21. |
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Authors:
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Eran Bornstein; Erez Lenchner; Alan Donnenfeld; Cristiano Jodicke; Sean M Keeler; Sara Kapp; Michael Y Divon |
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Publication Detail:
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Type: Journal Article Date: 2010-08-05 |
Journal Detail:
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Title: American journal of obstetrics and gynecology Volume: 203 ISSN: 1097-6868 ISO Abbreviation: Am. J. Obstet. Gynecol. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-29 Completed Date: 2010-11-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0370476 Medline TA: Am J Obstet Gynecol Country: United States |
Other Details:
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Languages: eng Pagination: 391.e1-5 Citation Subset: AIM; IM |
Copyright Information:
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Copyright © 2010 Mosby, Inc. All rights reserved. |
Affiliation:
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Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, New York University School of Medicine, Lenox Hill Hospital, New York, NY, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amniocentesis Aneuploidy Case-Control Studies Chorionic Villi Sampling Chromosomes, Human, Pair 21* Down Syndrome / diagnosis*, genetics Female Humans Pregnancy Prenatal Diagnosis / methods* Retrospective Studies Translocation, Genetic* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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