[Healthy pregnancy in a patient with familiar obstructive hypertrophic cardiomyopathy via preimplantation genetic texting for monogenic disease]

Zhonghua Xin Xue Guan Bing Za Zhi. 2021 Apr 24;49(4):387-389. doi: 10.3760/cma.j.cn112148-20200423-00341.
[Article in Chinese]

Abstract

肥厚型心肌病是一种常见的单基因遗传性心血管疾病,是35岁以下人群发生心脏性猝死最常见的原因。多数病例呈常染色体显性遗传,自然受孕的情况下,有50%的概率将该疾病遗传给下一代。单基因遗传病胚胎植入前遗传学检测(PGT-M)能够选择不携带致病基因的胚胎植入宫腔,以获得表型正常的胎儿。该文报道肥厚型心肌病患者经PGT-M后,获得不携带致病基因的囊胚,顺利胚胎移植并成功临床妊娠一例。.

MeSH terms

  • Cardiomyopathy, Hypertrophic* / genetics
  • Female
  • Genetic Testing
  • Humans
  • Pregnancy
  • Text Messaging*