ISPD 19th International Conference Late-Breaking Abstracts

Objectives: Current noninvasive prenatal gender diagnosis is limited to maternal venous blood collection. This study identifies a new source of cell-free fetal DNA and demonstrates its utility for a noninvasive prenatal diagnosis using maternal capillary blood. Methods: Maternal capillary blood samples were obtained from pregnant women (6–24-week gestation) by finger stick. Plasma was separated from whole blood by centrifugation, and cell-free DNA was isolated using a commercial DNA extraction kit. Real-time quantitative PCR was performed to detect fetal DNA using a multi-copy sequence on the Y chromosome. An endogenous control gene was used to measure total cell-free DNA (maternal and fetal). Results: Cell-free DNA was detected in all maternal capillary blood samples. Y-chromosome specific sequences were detected in all (100%) pregnancies confirmed to have a male fetus. All gender results were in concordance with known fetal sex, without false-positive or false-negative results. Conclusions: Noninvasive prenatal diagnosis of fetal gender from maternal capillary blood is simple, accurate, and reliable. The results of this study demonstrate that fetal DNA detection using maternal capillary blood is highly feasible and easily adaptable for population screening. This method simplifies blood collection of maternal blood and should increase the accessibility of noninvasive prenatal testing.