Non-invasive prenatal test for autosomal dominant Charcot-Marie-Tooth disease in a fetus using droplet digital polymerase chain reaction / 中华围产医学杂志

ABSTRACT

We report the use of droplet digital polymerase chain reaction (ddPCR) in non-invasive prenatal test fetal Charcot-Marie-Tooth disease (CMT) caused by MFN2 gene mutation. The proband, namely the husband, was found with heterozygous mutation of c.919A>G(p.K307E) in the MFN2 gene, which was diagnosed as CMT type 2A2A at a local hospital. The proband's wife underwent genetic counseling after conception at the First Affiliated Hospital of Zhengzhou University. Peripheral blood obtained from the pregnant woman was analyzed by ddPCR at eight gestational weeks, which found the fetus to carry a paternal pathogenic gene mutation. Sanger sequencing for the chorionic sample at 11 gestational weeks further verified that the fetus was a c.919G>A(p.K307E) heterozygous mutation carrier, the same as the proband. ddPCR could be applied to cell-free fetal DNA to detect the paternal pathogenic gene mutation in the non-invasive prenatal test.