Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world
Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world
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DOI：
10.1111/j.1365-2516.2011.02559.x
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发表时间：
2011-07-01
期刊：
影响因子：
3.9
通讯作者：
Mortarino, M.
中科院分区：
文献类型：
--
作者：
Peyvandi, F.;Garagiola, I.;Mortarino, M.
产前诊断 (PND) 旨在在怀孕早期提供准确、快速的结果。传统的 PND 涉及在妊娠第 11-14 周时通过绒毛膜绒毛取样或在第 15 周后进行羊膜穿刺术来采集胎儿来源的细胞。这些都是侵入性手术，流产率虽小，但也很显着，为 0.5% 至 1%。对于有将遗传病传染给孩子的风险的夫妇来说，传统 PND 的现有方法的替代方法是植入前遗传学诊断 (PGD)。 PGD 是一种新兴的早期产前诊断形式。该技术将辅助生殖技术与分子遗传学和细胞遗传学相结合，可以在植入前识别胚胎的异常情况。人类植入前胚胎遗传疾病的诊断最早于 20 世纪 80 年代末开始，用于检测非整倍体、单基因和 X 连锁疾病，如囊性纤维化、血友病和染色体异常。与 PGD 相关的法律和道德问题在国内和国际多个层面都存在争议。由于科学、文化和宗教差异，不仅在世界不同地区，而且在欧洲内部，对 PGD 的态度也存在很大差异。 PGD 已在世界范围内广泛用于各种适应症，并且可以大大降低遗传给后代不良遗传疾病的最终风险。然而，它扩展到一些新的和非医学适应症引起了伦理问题，特别是其潜在的优生方面。
Prenatal diagnosis (PND) aims to provide accurate, rapid results as early in pregnancy as possible. Conventional PND involves sampling cells of foetal origin by chorionic villus sampling at 11-14th weeks of pregnancy or amniocentesis after 15th week. These are invasive procedures and have a small but significant rate of 0.5% to 1% for loss of pregnancy. An alternative to existing methods for conventional PND for couples at risk of transmitting a genetic disease to their child is preimplantation genetic diagnosis (PGD). PGD is a newly emerging form of a very early prenatal diagnosis. The technique combines assisted reproductive technology with molecular genetics and cytogenetics to allow the identification of abnormality in embryos prior to implantation. The diagnosis of genetic disease in human preimplantation embryos was pioneered in the late 1980s for testing of aneuploidy, single gene and X-linked disease, such as cystic fibrosis, haemophilia and chromosomal abnormalities. The PGD-related legal and ethical issues have been debated at many levels both nationally and internationally. The attitude towards PGD varies substantially not only in different parts of the world but also within the Europe, owing to scientific, cultural and religious differences. PGD has become widely practised throughout the world for various indications and can substantially decrease the eventual risks of passing a genetic undesired condition of the offspring. Nevertheless, its extension to some new and non-medical indications has raised ethical concerns, in particular its potential eugenic dimension.