扩展性携带者筛查结合PGT的临床应用意义和实施策略

Clinical implications and implementation strategies of expanded carrier screening combined with PGT

遗传检测技术的进步,促进了携带者筛查技术在生殖领域的蓬勃开展。扩展性携带者筛查与传统的基于指南的携带者筛查相比,可以有效地识别出更多的高危夫妇。扩展性携带者筛查开展后,增加了单基因病胚胎植入前遗传学检测(preimplantation genetic testing,PGT)的转诊数量,丰富了疾病诊断类型。扩展性携带者筛查结合PGT技术,正在改变遗传风险评估的临床策略,通过准确识别生殖风险信息,合理安排生育计划,从而预防出生缺陷。

Advances in genetic testing field have contributed to the boom in carrier screening technology.Expanded carrier screening can effectively identify more high-risk couples than traditional guideline-based carrier screening.The introduction of extended carrier screening has increased the number of referrals for preimplantation genetic testing(PGT)for monogenic disease and enriched the types of disease diagnosed.Expanded carrier screening combined with PGT technology is changing the clinical strategy of genetic risk assessment and preventing birth defects by accurately identifying reproductive risk information and rationalizing fertility planning.