Counselling considerations for chromosomal mosaicism detected by preimplantation genetic screening

被引：38

作者：

Besser, Andria G. ^{[1
]}

Mounts, Emily L. ^{[2
]}

机构：

[1] NYU, Fertil Ctr, Langone Med Ctr, 660 First Ave, New York, NY 10016 USA

[2] Oregon Reprod Med, 808 SW 15th Ave, Portland, OR 97205 USA

来源：

REPRODUCTIVE BIOMEDICINE ONLINE | 2017年 / 34卷 / 04期

关键词：

Genetic counselling; Mosaicism; Next-generation sequencing; Preimplantation genetic screening; Prenatal diagnosis; BLASTOCYSTS; TECHNOLOGY; ANEUPLOIDY; DIAGNOSIS; MISCARRIAGES; OUTCOMES; EMBRYOS; CGH;

D O I：

10.1016/j.rbmo.2017.01.003

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies regarding transfer and storage of such embryos, as well as in providing genetic counselling for patients prior to and following PGS. Given the high frequency of mosaic PGS results and the wide range of possible associated outcomes, there is an urgent need to understand how to appropriately counsel patients regarding such embryos. This is the first commentary to thoroughly address pre- and post-test genetic counselling recommendations, as well as considerations regarding prenatal screening and diagnosis. Current data on mosaic PGS results are summarized along with embryo selection considerations and potential outcomes of embryos diagnosed as mosaic. (C) 2017 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

引用

页码：369 / 374

页数：6

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