Non-invasive prenatal detection of trisomy 21 using tandem single nucleotide polymorphisms.

ABSTRACT:

Background

Screening tests for Trisomy 21 (T21), also known as Down syndrome, are routinely performed for the majority of pregnant women. However, current tests rely on either evaluating non-specific markers, which lead to false negative and false positive results, or on invasive tests, which while highly accurate, are expensive and carry a risk of fetal loss. We outline a novel, rapid, highly sensitive, and targeted approach to non-invasively detect fetal T21 using maternal plasma DNA.

Methods and findings

Highly heterozygous tandem Single Nucleotide Polymorphism (SNP) sequences on chromosome 21 were analyzed using High-Fidelity PCR and Cycling Temperature Capillary Electrophoresis (CTCE). This approach was used to blindly analyze plasma DNA obtained from peripheral blood f

SUBMITTER: Ghanta S 

PROVIDER: S-EPMC2951898 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature