Document Detail


Fetal sex determination using circulating cell-free fetal DNA (ccffDNA) at 11 to 13 weeks of gestation.
MedLine Citation:
PMID:  20721878     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: To examine the performance of a mass spectrometry-based detection platform using three Y-chromosome sequences for fetal sex determination from circulating cell-free fetal DNA (ccffDNA) in maternal blood in the first trimester of pregnancy.
METHODS: We extracted ccffDNA for the determination of fetal sex from stored maternal plasma obtained at 11 to 13 weeks' gestation from singleton pregnancies with documented fetal gender. Mass spectrometry was used to examine 236 specimens for the presence of three Y-chromosome sequences (SRY, DBY and TTTY2). The sample was classified as male, female or inconclusive depending on the detection of three, one/none and two sequences, respectively.
RESULTS: Three (1.3%) of the 236 cases were classified as invalid due to the absence of a well-defined spectral peak for TGIF and 22 (9.3%) were reported as inconclusive. In the 211 cases with a valid result, the fetal sex was correctly identified in 90 of 91 male babies and 119 of 120 female babies giving an accuracy of 99.1% and sensitivity and specificity for prediction of male fetuses of 98.9 and 99.2%, respectively.
CONCLUSION: Fetal sex determination can be accurately determined from maternal ccffDNA in the first trimester of pregnancy using mass spectrometry analysis.
Authors:
Ranjit Akolekar; Daniel H Farkas; Anna L VanAgtmael; Allan T Bombard; Kypros H Nicolaides
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  30     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-09-29     Completed Date:  2011-01-13     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  918-23     Citation Subset:  IM    
Copyright Information:
© 2010 John Wiley & Sons, Ltd.
Affiliation:
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
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MeSH Terms
Descriptor/Qualifier:
Adult
Chromosomes, Human, Y*
DEAD-box RNA Helicases / analysis,  genetics
DNA / blood*,  chemistry
Female
Gestational Age
Humans
Male
Maternal-Fetal Exchange
Polymerase Chain Reaction
Pregnancy
Pregnancy Trimester, First / blood*
Proteins / analysis,  genetics
Reproducibility of Results
Sex Determination Analysis / methods*
Sex-Determining Region Y Protein / analysis,  genetics
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Chemical
Reg. No./Substance:
0/Proteins; 0/SRY protein, human; 0/Sex-Determining Region Y Protein; 0/TTTY2 protein, human; 9007-49-2/DNA; EC 3.6.1.-/DDX3Y protein, human; EC 3.6.1.-/DEAD-box RNA Helicases

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


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