Document Detail

DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations.
MedLine Citation:
PMID:  22585317     Owner:  NLM     Status:  Publisher    
OBJECTIVE: Studies on prenatal testing for Down syndrome (trisomy 21), trisomy 18, and trisomy 13 by massively parallel shotgun sequencing (MPSS) of circulating cell free DNA have been, for the most part, limited to singleton pregnancies. If MPSS testing is offered clinically, it is important to know if these trisomies will also be identified in multiple pregnancies. METHOD: Among a cohort of 4664 high-risk pregnancies, maternal plasma samples were tested from 25 twin pregnancies (17 euploid, five concordant and two discordant for Down syndrome; one discordant for trisomy 13) and two euploid triplet pregnancies. Results were corrected for GC content bias. For each target chromosome (21, 18, and 13), z-scores of 3 or higher were considered consistent with trisomy. RESULTS: Seven twin pregnancies with Down syndrome, one with trisomy 13, and all 17 twin euploid pregnancies were correctly classified [detection rate 100%, 95% confidence interval (CI) 59%-100%, false positive rate 0%, 95% CI 0%-19.5%], as were the two triplet euploid pregnancies. CONCLUSION: Although study size is limited, the underlying biology combined with the present data provide evidence that MPSS testing can be reliably used as a secondary screening test for Down syndrome in women with high-risk twin gestations. © 2012 John Wiley & Sons, Ltd.
Jacob A Canick; Edward M Kloza; Geralyn M Lambert-Messerlian; James E Haddow; Mathias Ehrich; Dirk van den Boom; Allan T Bombard; Cosmin Deciu; Glenn E Palomaki
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-5-14
Journal Detail:
Title:  Prenatal diagnosis     Volume:  -     ISSN:  1097-0223     ISO Abbreviation:  -     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-5-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  -    
Other Details:
Languages:  ENG     Pagination:  1-5     Citation Subset:  -    
Copyright Information:
© 2012 John Wiley & Sons, Ltd.
Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, RI, USA.
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