Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome
- 10 November 2011
- journal article
- letter
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 365 (19) , 1847-1848
- https://doi.org/10.1056/nejmc1106975
Abstract
This proof-of-principle study shows that it is possible to detect a genetic microdeletion carried by a fetus through analysis of DNA in circulating maternal blood.Keywords
This publication has 2 references indexed in Scilit:
- Statistical model for whole genome sequencing and its application to minimally invasive diagnosis of fetal genetic diseaseBioinformatics, 2009
- Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal bloodProceedings of the National Academy of Sciences, 2008