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针对囊性纤维化的植入前基因诊断后的临床妊娠。

Clinical pregnancy following pre-implantation genetic diagnosis for cystic fibrosis.

作者信息

Zhang X, Dineen T, Flanagan J, Kovacs A, O'Driscoll A, O'Callaghan J, Mihart R, Geisler M, Wiegandt P, Waterstone J

出版信息

Ir Med J. 2014 Sep;107(8):239-40.

Abstract

Pre-implantation genetic diagnosis (PGD) is an established alternative to prenatal testing for couples at risk of transmitting genetic disorders such as cystic fibrosis (CF).PGD screens pre-implantation embryos, allowing the safe transfer of those identified as unaffected. Awareness of CF carrier status in Ireland is increasing following the introduction of neonatal screening in 2011. PGD is the most acceptable reproductive strategy for many at risk Irish couples but until now the treatment necessitated travelling abroad. In 2012, the Irish Medicines Board licenced two Irish fertility clinics to carry out embryo biopsy for PGD. This is the first reported clinical pregnancy following PGD carried out in Ireland.

摘要

胚胎植入前基因诊断(PGD)是一种成熟的替代方法,适用于有传播诸如囊性纤维化(CF)等遗传疾病风险的夫妇进行产前检测。PGD对植入前胚胎进行筛查,使被确定为未受影响的胚胎得以安全移植。自2011年引入新生儿筛查后,爱尔兰对CF携带者状态的认识正在提高。对许多有风险的爱尔兰夫妇来说,PGD是最可接受的生殖策略,但直到现在,治疗仍需前往国外。2012年,爱尔兰药品管理局批准了两家爱尔兰生育诊所进行用于PGD的胚胎活检。这是爱尔兰进行PGD后首次报告的临床妊娠。

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