Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing

Significance Chromosomal aneuploidies represent a major cause of fetal loss and birth defects. Current methods for the prenatal diagnosis of aneuploidy require invasive methods that are associated with a risk of miscarriage and other complications. Recently, noninvasive prenatal testing has been developed using cell-free fetal DNA in maternal plasma. In this study, we validated an effective method for noninvasive diagnosis of fetal aneuploidy using a semiconductor sequencer, which reduces the time and cost of sequencing. Our method is cost-effective and practical in a clinical setting with high sensitivity and specificity for the diagnosis of trisomy 13, 18, and 21 as well as sex chromosome aneuploidies.