DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.

ABSTRACT:

Purpose

To determine whether maternal plasma cell-free DNA sequencing can effectively identify trisomy 18 and 13.

Methods

Sixty-two pregnancies with trisomy 18 and 12 with trisomy 13 were selected from a cohort of 4,664 pregnancies along with matched euploid controls (including 212 additional Down syndrome and matched controls already reported), and their samples tested using a laboratory-developed, next-generation sequencing test. Interpretation of the results for chromosome 18 and 13 included adjustment for CG content bias.

Results

Among the 99.1% of samples interpreted (1,971/1,988), observed trisomy 18 and 13 detection rates were 100% (59/59) and 91.7% (11/12) at false-positive rates of 0.28% and 0.97%, respectively. Among the 17 samples without an interpretation,

SUBMITTER: Palomaki GE 

PROVIDER: S-EPMC3938175 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature