Current status of preimplantation genetic diagnosis in Japan.
Current status of preimplantation genetic diagnosis in Japan.
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DOI：
10.6026/97320630011254
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发表时间：
2015
期刊：
影响因子：
1.9
通讯作者：
Tanaka M
中科院分区：
文献类型：
--
作者：
Sato K;Sueoka K;Iino K;Senba H;Suzuki M;Mizuguchi Y;Izumi Y;Sato S;Nakabayashi A;Tanaka M
这是一项回顾性研究，旨在阐明日本植入前遗传学诊断（PGD）的现状。我们的数据是 2004 年 9 月至 2012 年 9 月期间从 12 个设施收集的，并输入到数据库中。在日本，大多数 PGD 是针对反复流产夫妇的染色体平衡结构异常而进行的。单基因疾病的 PGD 仅在两家机构进行。单基因疾病的产妇平均年龄为 38 岁，染色体异常的产妇平均年龄为 40 岁。总共报告了 671 个卵母细胞取出周期。在这些周期中，85%（572 个周期）用于染色体异常，15%（99 个周期）用于单基因疾病。目前研究中单基因疾病的诊断率为70.8%，染色体异常的诊断率为94.0%。单基因疾病的PGD胚胎移植率为62.7%，染色体异常的胚胎移植率为25.5%。单基因疾病每次胚胎移植的临床妊娠率为 12.0%，染色体异常为 35.6%。我们的研究是所有机构中第一份获得日本妇产科学会伦理委员会批准的 PGD 报告。我们已经为在日本收集连续的 PGD 数据奠定了基础。
This is a retrospective study aimingto clarify the current status of preimplantation genetic diagnosis (PGD) in Japan. Our data were collected from 12 facilities between September 2004 and September 2012, and entered into a database. A majority of PGD in Japan was performed for balanced structural chromosomal abnormalities in couples with recurrent miscarriage. PGD for monogenic diseases was performed only in two facilities. The average maternal age was 38 years for monogenic diseases and 40 years for chromosomal abnormalities. Overall there have been671 cycles to oocyte retrieval reported. Of these cycles, 85% (572 cycles)were for chromosomal abnormalities, and 15% (99 cycles) for monogenic diseases. Diagnosis rates in the current study were 70.8% for monogenic diseases and 94.0% for chromosomal abnormalities. Rates of embryo transfer of PGD were 62.7% for monogenic diseases and 25.5% for chromosomal abnormalities. Clinical pregnancy rates per embryo transfer were 12.0% for monogenic diseases and 35.6% for chromosomal abnormalities. Our study is the first PGD report from all facilities which had the approval of the ethics committee of the Japanese Society of Obstetrics and Gynecology. We have built a basis for gathering continuous PGD data in Japan.