Article
Development of novel noninvasive prenatal testing protocol for whole autosomal recessive disease using picodroplet digital PCR.
Scientific reports - 7 Dec 2016
Chang Mun Young, Kim Ah Reum, Kim Min Young, Kim Soyoung, Yoon Jinsun, Han Jae Joon, Ahn Soyeon, Kang Changsoo, Choi Byung Yoon
Abstract excerpt
We developed a protocol of noninvasive prenatal testing (NIPT), employing a higher-resolution picodroplet digital PCR, to detect genetic imbalance in maternal plasma DNA (mpDNA) caused by cell-free fetal DNA (cffDNA). In the present study, this approach was applied to four families with autosomal recessive (AR) congenital sensorineural hearing loss. First, a fraction of the fetal DNA in mpDNA was calculated....
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