Technical Report abstract
Nature Medicine 13, 218 - 223 (2007)
Published online: 7 January 2007 | doi:10.1038/nm1530
Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection
Y M Dennis Lo1,2,7, Nancy B Y Tsui2,7, Rossa W K Chiu1,2,7, Tze K Lau3, Tse N Leung3, Macy M S Heung2, Ageliki Gerovassili4, Yongjie Jin5, Kypros H Nicolaides4, Charles R Cantor6 & Chunming Ding1,5,7
Abstract
Current methods for prenatal diagnosis of chromosomal aneuploidies involve the invasive sampling of fetal materials using procedures such as amniocentesis or chorionic villus sampling and constitute a finite risk to the fetus. Here, we outline a strategy for fetal chromosome dosage assessment that can be performed noninvasively through analysis of placental expressed mRNA in maternal plasma. We achieved noninvasive prenatal diagnosis of fetal trisomy 21 by determining the ratio between alleles of a single-nucleotide polymorphism (SNP) in PLAC4 mRNA, which is transcribed from chromosome 21 and expressed by the placenta, in maternal plasma. PLAC4 mRNA in maternal plasma was fetal derived and cleared after delivery. The allelic ratios in maternal plasma correlated with those in the placenta. Fetal trisomy 21 was detected noninvasively in 90% of cases and excluded in 96.5% of controls.
- Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China.
- Department of Chemical Pathology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China.
- Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China.
- Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London SE5 9RS, UK.
- Centre for Emerging Infectious Diseases, The Chinese University of Hong Kong, Shatin, New Territories, Hong Kong SAR, China.
- Bioinformatics Program and Center for Advanced Biotechnology, Boston University, 36 Cummington Street, Boston, Massachusetts 02118, USA.
- These authors contributed equally to this work.
Correspondence to: Y M Dennis Lo1,2,7 e-mail: loym@cuhk.edu.hk
MORE ARTICLES LIKE THIS
These links to content published by NPG are automatically generated.
NEWS AND VIEWS
Towards non?invasive prenatal diagnosisNature Genetics News and Views (01 Nov 1996)
Breaking the blood barrierNature Genetics News and Views (01 Aug 1992)
See all 8 matches for News And ViewsRESEARCH
Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detectionNature Medicine Technical Report
Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detectionNature Medicine Technical Report (01 Feb 2007)
See all 59 matches for Research