Access

Technical Report

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

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.

MORE ARTICLES LIKE THIS

These links to content published by NPG are automatically generated.

NEWS AND VIEWS

Towards non?invasive prenatal diagnosis

Nature Genetics News and Views (01 Nov 1996)

Breaking the blood barrier

Nature Genetics News and Views (01 Aug 1992)

See all 6 matches for News And Views

RESEARCH

Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection

Nature Medicine Technical Report (01 Feb 2007)

Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection

Nature Medicine Technical Report

See all 61 matches for Research
$rb.Type.Code