Noninvasive prenatal diagnosis of congenital adrenal hyperplasia in cell-free fetal DNA with COLD-PCR

Abstract

OBJECTIVE: Cell-free fetal DNA(cffDNA) present in the maternal plasma during pregnancy offers a potential material for noninvasive prenatal diagnosis. However, only about 3-6% occupation rate in the total circulating cell-free DNA limits its clinical application. To overcome this defect, various methods have been developed to optimize the extraction of cffDNA. Here, we first performed prenatal diagnosis to determine a paternally inherited congenital adrenal hyperplasia(CAH) mutation (Q318X of CYP21B gene) in cffDNA by co-amplification at lower denaturation temperature PCR(COLD-PCR), which is used to amplify minor alleles selectively from mixtures of wild-type and mutation-containing sequences.