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Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics.
MedLine Citation:
PMID:  23108725     Owner:  NLM     Status:  Publisher    
Objective: To examine the possible effects of maternal and fetal characteristics on the fetal fraction in maternal plasma cell-free (cf) DNA at 11-13 weeks' gestation and estimate the proportion of pregnancies at high-risk of non-invasive prenatal testing (NIPT) failure because the fetal fraction is less than 4%. Methods: In 1,949 singleton pregnancies at 11-13 weeks' gestation cfDNA was extracted from maternal plasma. Chromosome-selective sequencing of non-polymorphic and polymorphic loci, where fetal alleles differ from maternal alleles, was used to determine the proportion of cfDNA which was of fetal origin. Multivariable regression analysis was used to determine significant predictors of the fetal fraction amongst maternal and fetal characteristics. Results: The fetal fraction decreased with increased maternal weight, it was lower in women of Afro-Caribbean racial origin than in Caucasians, and increased with fetal crown-rump length, serum PAPP-A, serum free β-hCG, smoking and trisomy 21 karyotype. The median fetal fraction was 10.0% (IQR 7.8-13.0%) and this decreased with maternal weight from 11.7% at 60 kg to 3.9% at 160 Kg. The estimated proportion with fetal fraction below 4% increased with maternal weight from 0.7% at 60 kg to 7.1% at 100 kg and 51.1% at 160 Kg. Conclusions: Fetal fraction in maternal plasma cell-free DNA is affected by maternal and fetal characteristics. Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.
G Ashoor; A Syngelaki; Lcy Poon; Jc Rezende; Kh Nicolaides
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-25
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  -     ISSN:  1469-0705     ISO Abbreviation:  Ultrasound Obstet Gynecol     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-30     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 ISUOG. Published by John Wiley & Sons, Ltd.
Harris Birthright Research Centre of Fetal Medicine, King's College Hospital, London, UK.
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