Document Detail

Prenatal diagnosis and 47,XXY.
MedLine Citation:
PMID:  23359597     Owner:  NLM     Status:  MEDLINE    
In this contribution, we consider detection of 47,XXY by a variety of available methods. These include traditional invasive procedures, screening with maternal serum analytes and fetal ultrasound, and most recently cell-free fetal DNA. Since its introduction in the late 1960s, prenatal genetic diagnosis has evolved greatly. Serendipitious detection of 47,XXY was not infrequent when prenatal genetic diagnosis routinely involved testing by the invasive procedures CVS and amniocentesis. In 2013 this is much less common and relatively few pregnancies in the U.S. and Europe are tested without prior screening protocols, traditionally maternal serum analyte and fetal ultrasound (NT). These protocols are not designed to identify 47,XXY or other X-chromosome aneuploides and with screening by analysis of cell-free DNA in maternal blood, this situation may or may not be altered. Increased numbers of cases could be detected if intake increases and vendors offer information on 47,XXY. A further consideration is that ability of array CGH to detect microdeletions or microduplications below resolution of a karyotype could make return to direct testing using an invasive procedure attractive.
Joe Leigh Simpson; Carole Samango-Sprouse
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics. Part C, Seminars in medical genetics     Volume:  163C     ISSN:  1552-4876     ISO Abbreviation:  Am J Med Genet C Semin Med Genet     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-29     Completed Date:  2013-05-20     Revised Date:  2013-09-16    
Medline Journal Info:
Nlm Unique ID:  101235745     Medline TA:  Am J Med Genet C Semin Med Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  64-70     Citation Subset:  IM    
Copyright Information:
Copyright © 2013 Wiley Periodicals, Inc.
March of Dimes Foundation, White Plains, NY 10605, USA.
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MeSH Terms
Amniocentesis / adverse effects
Chromosomes, Human, X*
Prenatal Diagnosis / methods*,  trends
Risk Factors
Sex Chromosome Disorders of Sex Development / diagnosis

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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