The clinical application of affected-embryo-based SNP haplotype analysis for patients with de novo pathogenic mutations in PGT-M cycles.

IF 2.1 3区 医学 Q2 OBSTETRICS & GYNECOLOGY Archives of Gynecology and Obstetrics Pub Date : 2024-10-29 DOI:10.1007/s00404-024-07773-y
Jie Wang, Jun Xing, Linjun Chen, Zhenyu Diao, Linlin He, Shanshan Wang, Fei Lin, Ningyuan Zhang
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Abstract

Purpose: In preimplantation genetic testing for monogenic/single gene disorders (PGT-M) cycles, direct detection of the pathogenic mutation combined with indirect haplotype analysis are recommended to achieve accurate diagnosis. However, it poses a challenge to conduct haplotype analysis for patients carried de novo pathogenetic mutations or without no identified haplotype in families. Herein, the strategy of affected-embryo-based haplotype analysis was implemented in clinical practice to provide a convenient, economical and effective way for such patients.

Materials and methods: Eight cases with de novo mutations were recruited. Six cases found the embryo-proband from biopsied blastocysts, and two case (case5 and 6) found them from developmental arrested embryos. A total of thirty-seven biopsied blastocysts from eight PGT-M cycles were performed direct detection and affected-embryo-based single nucleotide polymorphism (SNP) haplotype analyses.

Results: Till now, five cases (case 1, 2, 3, 7, 8) had delivered healthy babies and one case (case6) achieved successful ongoing pregnancy. We reported for the first time to find proband from developmental arrested embryos to complete haplotype analyses when no carriers were found in biopsied ones in clinical practice.

Conclusion: Our study further proves and expands the application of the double-checking strategy based on affected-embryo proband and allows patients with de novo mutations or lack positive family members to benefit from the strategy.

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基于受影响胚胎的 SNP 单倍型分析在 PGT-M 循环中对新发致病突变患者的临床应用。
目的:在单基因/单基因遗传病植入前基因检测(PGT-M)周期中,建议直接检测致病基因突变并结合间接单倍型分析来实现准确诊断。然而,对携带新的致病突变或家族中没有确定单倍型的患者进行单倍型分析是一项挑战。在此,我们在临床实践中实施了基于受累胚胎的单倍型分析策略,为此类患者提供了一种便捷、经济、有效的方法:材料:招募了八例新发基因突变病例。材料:招募了八例新发突变患者,其中六例从活检的囊胚中发现了胚胎带,两例(病例 5 和 6)从发育停止的胚胎中发现了胚胎带。共对 8 个 PGT-M 周期的 37 个活检囊胚进行了直接检测和基于受影响胚胎的单核苷酸多态性(SNP)单倍型分析:截至目前,5 例(病例 1、2、3、7、8)已分娩出健康婴儿,1 例(病例 6)成功继续妊娠。我们首次报道了在临床实践中,当活检胚胎中未发现携带者时,从发育停止的胚胎中找到原型以完成单倍型分析:我们的研究进一步证明并扩大了基于受影响胚胎原核的双重检查策略的应用范围,使新发突变或缺乏阳性家族成员的患者也能从该策略中获益。
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来源期刊
CiteScore
4.70
自引率
15.40%
发文量
493
审稿时长
1 months
期刊介绍: Founded in 1870 as "Archiv für Gynaekologie", Archives of Gynecology and Obstetrics has a long and outstanding tradition. Since 1922 the journal has been the Organ of the Deutsche Gesellschaft für Gynäkologie und Geburtshilfe. "The Archives of Gynecology and Obstetrics" is circulated in over 40 countries world wide and is indexed in "PubMed/Medline" and "Science Citation Index Expanded/Journal Citation Report". The journal publishes invited and submitted reviews; peer-reviewed original articles about clinical topics and basic research as well as news and views and guidelines and position statements from all sub-specialties in gynecology and obstetrics.
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