Rapid Prenatal Testing Using Semiconductor Sequencing?

Abstract

Recent developments in sequencing technology have had a large impact in several areas of human genetics. One area in which the implementation of this new technology is closest to clinical use is prenatal testing. One tube of blood drawn from a pregnant woman is sufficient for testing the unborn child for Down syndrome with high diagnostic sensitivity and specificity. Approximately 10% of the DNA in maternal plasma is of fetal origin (1). Next-generation sequencing (NGS)2 allows the parallel determination of the chromosomal origin for millions of plasma DNA molecules. This capability allows the detection of an overrepresentation of chromosome 21 in the case of a fetus with Down syndrome, although the majority of the sequenced molecules are derived from the healthy mother. This noninvasive testing will replace invasive tests, which come with a small risk of miscarriage. Several NGS platforms have proved the feasibility of the detection of fetal trisomies (2–5 …