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介绍:胚胎植入前染色体非整倍体筛查中的亚染色体异常。

Introduction: Subchromosomal abnormalities in preimplantation embryonic aneuploidy screening.

机构信息

Reproductive Medicine Associates of New Jersey, Basking Ridge, New Jersey.

出版信息

Fertil Steril. 2017 Jan;107(1):4-5. doi: 10.1016/j.fertnstert.2016.11.017.

Abstract

The application of next generation sequencing platforms for embryonic aneuploidy screening provides enhanced resolution that allows routine evaluation of subchromosomal copy number abnormalities and mosaicism. Approximately 20% of embryos that would be designated as euploid using the conventional 24-chromosome aneuploidy screening will have evidence of a subchromosomal abnormality or mosaicism. This new information brings many challenges. Understanding the impact of these abnormalities on implantation and delivery rates is key to optimizing clinical counseling and management.

摘要

下一代测序平台在胚胎非整倍体筛查中的应用提供了更高的分辨率,允许常规评估亚染色体拷贝数异常和嵌合体。使用传统的 24 条染色体非整倍体筛查,约 20%的胚胎被指定为整倍体,但会有亚染色体异常或嵌合体的证据。这一新信息带来了许多挑战。了解这些异常对植入率和分娩率的影响是优化临床咨询和管理的关键。

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