reliable detection of paternal snps within deletion breakpoints for non-invasive prenatal exclusion of homozygous α0-thalassemia in maternal plasma可靠的父亲的snp检测在删除断点非侵入性产前排除纯合子α0-thalassemia孕产妇等离子体.pdfVIP

Reliable Detection of Paternal SNPs within Deletion Breakpoints for Non-Invasive Prenatal Exclusion of Homozygous a0-Thalassemia in Maternal Plasma 1,2 1 2 1 3 4 5 Ti-Zhen Yan , Qiu-Hua Mo , Ren Cai , Xue Chen , Cui-Mei Zhang , Yan-Hui Liu , Ya-Jun Chen , 1 1 1 Wan-Jun Zhou , Fu Xiong , Xiang-Min Xu * 1 Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, People’s Republic of China, 2 Center for Prenatal Diagnosis, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, People’s Republic of China, 3 Center for Prenatal Diagnosis, The Affiliated Zhongshan Boai Hospital of Southern Medical University, Zhongshan, Guangdong, People’s Republic of China, 4 Department of Medical Laboratory, The Affiliated Donghua Hospital of Sun Yat-Sen University, Dongguan, Guangdong, People’s Republic of China, 5 Center for Prenatal Diagnosis, Shaoguan Municipal Maternity and Child Healthcare Hospital, Shaoguan, Guangdong, People’s Republic of China Abstract Reliable detection of large deletions from cell-free fetal DNA (cffDNA) in maternal plasma is challenging, especially when both parents have the same deletion owing to a lack of specific markers for fetal genotyping. In order to evaluate the efficacy of a non-invasive prenatal diagnosis (NIPD) test to exclude a-thalassemia major that uses SNPs linked to the normal paternal a-globin allele, we established a novel protocol to reliably detect paternal SNPs within the ( 22SEA) breakpoints and performed evaluation of the diagnostic potential of the protocol in a total of 67 pregnancies, in whom plasma samples were