Incorporating DNA sequencing into current prenatal screening practice for Down's syndrome.

ABSTRACT:

Background

Prenatal screening for Down's syndrome is performed using biochemical and ultrasound markers measured in early pregnancy such as the Integrated test using first and second trimester markers. Recently, DNA sequencing methods have been introduced on free DNA in maternal plasma, yielding a high screening performance. These methods are expensive and there is a test failure rate. We determined the screening performance of merging the Integrated test with the newer DNA techniques in a protocol that substantially reduces the cost compared with universal DNA testing and still achieves high screening performance with no test failures.

Methods

Published data were used to model screening performance of a protocol in which all women receive the first stage of the Integrated t

SUBMITTER: Wald NJ 

PROVIDER: S-EPMC3604109 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature