Yang Yan, Liu Yanqiu, Lu Qing, Chen Jia, Luo Haiyan, Ma Pengpeng
Prenatal Diagnosis Center of Jiangxi Women and Children's Hospital, Nanchang, Jiangxi 330006, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Nov 10;36(11):1090-1093. doi: 10.3760/cma.j.issn.1003-9406.2019.11.008.
To assess the value of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) for beta-thalassemia coupled with human leukocyte antigen (HLA) matching.
Three couples were recruited. Couple 1 both carried a β (IVS-2-654) variation and had previously given birth to a son with β thalassemia major. Couple 2 respectively carried (cd41-42) and β (IVS-2-654) but had no history of pregnancy. Couple 3 respectively carried β (CD17) and β (IVS-2-654), and had a daughter carrying β (CD17).
For couple 1, NGS-SNP typing identified two embryos not only unaffected with thalassemia but also with matched HLA. One blastocyst was transferred and resulted in successful pregnancy. A healthy baby was born at 39th week of gestation. Its umbilical blood was used to treat the sick brother through hemopoietic stem cell transplantation. For couple 2, seven blastocysts were obtained. Second transplantation has resulted in successful pregnancy. Prenatal diagnosis was consistent with PGD. For couple 3, two blastocysts not only unaffected with thalassemia but also with no pathogenic copy number variations were obtained. Transfer of one blastocyte resulted in successful pregnancy, and prenatal diagnosis was consistent with PGD.
NGS-based SNP typing is an useful tool for selecting embryos unaffected with beta-thalassemia and matched HLA through PGD.
评估基于二代测序（NGS）的单核苷酸多态性（SNP）单倍型分析在β地中海贫血植入前遗传学诊断（PGD）联合人类白细胞抗原（HLA）配型中的价值。
招募了三对夫妇。夫妇1双方均携带β（IVS-2-654）变异，且此前育有一名重型β地中海贫血儿子。夫妇2分别携带（cd41-42）和β（IVS-2-654），但无妊娠史。夫妇3分别携带β（CD17）和β（IVS-2-654），且有一个携带β（CD17）的女儿。
对于夫妇1，NGS-SNP分型鉴定出两个不仅未患地中海贫血且HLA配型相符的胚胎。移植了一个囊胚，成功妊娠。在妊娠第39周时出生了一个健康婴儿。其脐血通过造血干细胞移植用于治疗患病的哥哥。对于夫妇2，获得了7个囊胚。第二次移植成功妊娠。产前诊断与PGD结果一致。对于夫妇3，获得了两个不仅未患地中海贫血且无致病性拷贝数变异的囊胚。移植一个胚泡成功妊娠，产前诊断与PGD结果一致。
基于NGS的SNP分型是通过PGD选择未患β地中海贫血且HLA配型相符胚胎的有用工具。
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