Clinical practice and outcomes of preimplantation genetic testing for CMT1A using a novel direct detection method

• DOI: 10.1016/j.heliyon.2023.e22196
• Publication Date: 2023-11-10T19:29:55Z
• Authors: Yuqian Wang; Yujun Liu; Ying Kuo; Shuo Guan; Nan Wang; Ying Lian; Jin Huang; Xu Zhi; Ping Liu; Rong Li; Liying Yan; Xiaohui Zhu; Jie Qiao
• Keywords: Amniocentesis; Preimplantation Genetic Diagnosis

Charcot-Marie-Tooth type 1A (CMT1A), the most frequent of disease, is mainly caused by a 1.4-Mb duplication containing PMP22 gene. There no effective treatment other than general supportive care and symptomatic treatment. Preimplantation genetic testing for monogenic defects (PGT-M) an alternative approach obtaining healthy babies.A new technology analysis method based on next-generation sequencing (NGS) was developed to detect mutations directly. Simultaneously, aneuploidy linkage analyses were performed achieve comprehensive accurate embryo diagnosis.Eight couples recruited in this study; validated seven couples, splicing mutation found one. Forty-five embryos from 12 PGT cycles successfully detected using novel method. The direct detection results all consistent with analyses, suggesting 100 % accuracy rate, rate biopsied blastocysts 33.3 %. Eventually, 18 45 diagnosed deemed suitable transfer. Four babies three families delivered their status confirmed amniocentesis. Additionally, there adverse effects anesthesia or increased pregnancy complications during PGT-M female patients CMT1A.This study provided simple, reliable, efficient that can directly NGS data does not require positive family members. A clinical workflow CMT1A interruption offspring before implantation also summarized.