Document Detail

Non-invasive prenatal determination of fetal sex: translating research into clinical practice.
MedLine Citation:
PMID:  20840219     Owner:  NLM     Status:  MEDLINE    
The effectiveness and clinical utility of non-invasive prenatal diagnosis (NIPD) for fetal sex determination using cell-free fetal DNA (cffDNA) was assessed by undertaking a prospective national audit of UK testing. NIPD was performed using real-time polymerase chain reaction analysis of the DYS14 or SRY gene in cffDNA extracted from maternal plasma. All cases referred for fetal sex determination from 1 April 2006 to 31 March 2009 were ascertained from two laboratories offering the test. Fetal gender determined by NIPD was compared with that based on ultrasound, invasive test or phenotype at birth. Indication and rate of invasive testing was ascertained. In the first year, results were issued in 150/161 pregnancies tested. Of the 135 with outcome data, results were concordant in 130/135 [96.3% (95% CI 91.6-98.8%)]. Reporting criteria were changed and in the subsequent 511 pregnancies the concordancy rate increased to 401/403 [99.5% (95% CI 98.2-99.9%)]. Over the 3 years only 32.9% (174/528) underwent invasive testing. NIPD for fetal sex determination using cffDNA is highly accurate when performed in National Health Service laboratories if stringent reporting criteria are applied. Parents should be advised of the small risk of discordant results and possible need for repeat testing to resolve inconclusive results.
M Hill; K Finning; P Martin; J Hogg; C Meaney; G Norbury; G Daniels; L S Chitty
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-09-15
Journal Detail:
Title:  Clinical genetics     Volume:  80     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2011 Jul 
Date Detail:
Created Date:  2011-06-08     Completed Date:  2011-09-28     Revised Date:  2014-09-24    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  68-75     Citation Subset:  IM    
Copyright Information:
© 2010 John Wiley & Sons A/S.
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MeSH Terms
DNA / genetics
Polymerase Chain Reaction / methods
Prenatal Diagnosis / methods*
SOXB1 Transcription Factors / genetics*
Sex Determination Analysis / methods*
Grant Support
RP-PG-0707-10107//Department of Health
Reg. No./Substance:
0/SOX1 protein, human; 0/SOXB1 Transcription Factors; 9007-49-2/DNA

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

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