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Circulating cell-free fetal DNA for the detection of RHD status and sex using reflex fetal identifiers.
MedLine Citation:
PMID:  23225162     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVE: To determine the sensitivity and specificity of circulating cell-free fetal DNA in determining the fetal RHD status and fetal sex. METHODS: Maternal blood was collected in each trimester of pregnancy from RhD negative nonalloimmunized women. Whole blood was centrifuged, separated into plasma and buffy coat, and frozen at -80°C. DNA analysis was conducted via allele-specific primer extensions for exons 4, 5, and 7 of the RHD gene and for a 37-base pair insertion in exon 4 (RHD pseudogene; psi) three Y-chromosome sequences (SRY, DBY, and TTY2), and an extraction control (TGIFL-like X/Y). RhD serotyping on cord blood and gender assessment of the newborns were entered into a Web-based database. RESULTS: One hundred twenty women were enrolled. The median gestational age at the first venipuncture was 12.4 (range: 10.6-13.9) weeks with 120 samples drawn; 118 samples were drawn at 17.6 (16-20.9) weeks; and 113 samples at 28.7 (27.9-33.9) weeks. Overall accuracy for RHD was 99.1%, 99.1%, and 98.1% for each trimester and was 99.1%, 99.1%, and 100% for fetal sex determination. CONCLUSIONS: Fetal RHD genotyping and sex can be very accurately determined in all three trimesters using circulating cell-free fetal DNA in the maternal circulation. © 2012 John Wiley & Sons, Ltd.
Authors:
K J Moise; N H Boring; R O'Shaughnessy; L L Simpson; H M Wolfe; J K Baxter; W Polzin; K A Eddleman; S S Hassan; D Skupski; G McLennan; T Paladino; P Oeth; A Bombard
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-12-6
Journal Detail:
Title:  Prenatal diagnosis     Volume:  -     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-12-10     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  -    
Other Details:
Languages:  ENG     Pagination:  1-6     Citation Subset:  -    
Copyright Information:
© 2012 John Wiley & Sons, Ltd.
Affiliation:
Baylor College of Medicine, Houston, TX, USA; University of Texas School of Medicine at Houston, Houston, TX, USA. Kenneth.J.Moise@uth.tmc.edu.
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