Next Fertility IVF Prof. Zech - Bregenz, Bregenz, Austria.
Next Fertility IVF Prof. Zech - Salzburg, Salzburg, Austria.
J Assist Reprod Genet. 2022 Nov;39(11):2563-2570. doi: 10.1007/s10815-022-02620-y. Epub 2022 Sep 23.
The worldwide demand of preimplantation genetic testing for aneuploidy (PGT-A) is still growing. However, chromosomal mosaic results greatly challenge the clinical practice. The recently published PGDIS Position Statement on the Transfer of Mosaic Embryos is the third PGDIS position statement on how to deal with embryos diagnosed as chromosomal mosaics (CM) and, one of many attempts of different societies and working groups to provide a guideline for clinicians, laboratories, clinics, and genetic counselors. But still, as in previous statements, many issues remained unresolved. Moreover, from our point of view, the question how to deal with embryos diagnosed as CM, consisting of two or more karyological cell lines cannot be separated from all the other aspects of PGT-A including its accuracy. The paucity of clearcut indications for PGT-A and evidence of benefit as well as an overall cost-benefit assessment is given below.
全世界对胚胎植入前遗传学检测非整倍体(PGT-A)的需求仍在不断增长。然而,染色体嵌合结果极大地挑战了临床实践。最近发表的 PGDIS 关于嵌合胚胎移植的立场声明是 PGDIS 关于如何处理诊断为染色体嵌合体(CM)的胚胎的第三个立场声明,也是许多不同协会和工作组为临床医生、实验室、诊所和遗传咨询师提供指导方针的众多尝试之一。但与之前的声明一样,许多问题仍未得到解决。此外,从我们的角度来看,如何处理诊断为 CM 的胚胎的问题,即由两个或多个核型细胞系组成的问题,不能与 PGT-A 的所有其他方面(包括其准确性)分开。下面给出了 PGT-A 缺乏明确适应症和益处的证据以及总体成本效益评估。