Successful pregnancy after preimplantation genetic testing for structural rearrangements in a couple with complex chromosome rearrangement and recurrent in vitro fertilization failures: a case report

FS Reports Pub Date : 2024-12-01 DOI:10.1016/j.xfre.2024.10.006

Divyesh Upadhyay B.S. , Rajia Al Halaby M.D. , Sudha Anandt Ph.D. , Firas Albuz Ph.D. , Merlin Mary Varghese M.S. , Braulio Peramo M.D.

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Abstract

Objective

To present a case of a couple with 20 years of infertility and 10 recurrent in vitro fertilization (IVF) failures, identifying a paternal complex chromosome rearrangement using high-resolution karyotype together with preimplantation genetic testing for structural rearrangements (PGT-SR) and utilizing IVF-intracytoplasmic sperm injection to achieve a successful pregnancy.

Design

Case report.

Setting

Al Ain Fertility Center, Abu Dhabi, United Arab Emirates.

Patients

A 40-year-old male patient and a 37-year-old female patient with a history of infertility and recurrent IVF failures.

Exposure

In vitro fertilization-intracytoplasmic sperm injection with high-resolution karyotype and PGT-SR.

Main Outcome Measures

Identification of chromosomal abnormalities, successful embryo development, pregnancy outcome, and newborn karyotyping.

Results

Karyotyping revealed a paternal complex chromosome rearrangement, t(3;4;12) (q21;q33;q21), and a chromosomal polymorphism in the female (1qh+). In vitro fertilization-intracytoplasmic sperm injection with PGT-SR produced one euploid/balanced female embryo from 20 embryos across 8 cycles. The patient conceived after hormone replacement therapy and frozen embryo transfer, resulting in an uneventful, full-term pregnancy and delivery of a healthy baby via C-section. Newborn karyotyping was normal (46,XX).

Conclusion

High-resolution karyotype and PGT-SR should be offered to patients undergoing IVF, especially those with severe male factors, recurrent IVF failures, implantation failures, or recurrent pregnancy losses, to enhance the chances of a successful pregnancy.

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对复杂染色体重排和反复体外受精失败的夫妇进行结构重排的植入前基因检测后成功妊娠一例报告。

目的：介绍一对20年不孕，10次体外受精（IVF）失败的夫妇，利用高分辨率核型和植入前基因结构重排检测（PGT-SR）鉴定父系复杂染色体重排，并利用IVF-胞浆内单精子注射实现成功妊娠。设计：病例报告。地点：阿拉伯联合酋长国阿布扎比阿尔艾因生育中心。患者：男1例，40岁，女1例，37岁，有不孕不育史，反复IVF失败。暴露：体外受精-高分辨率核型和PGT-SR的胞浆内精子注射。主要观察指标：染色体异常鉴定，胚胎发育成功，妊娠结局，新生儿核型。结果：核型分析显示父系复杂染色体重排，t(3;4;12) (q21;q33;q21)，女性染色体多态性（1qh+）。体外受精-胞浆内精子注射PGT-SR，通过8个周期从20个胚胎中获得1个整倍体/平衡的雌性胚胎。该患者在接受激素替代疗法和冷冻胚胎移植后怀孕，顺利完成足月妊娠，并通过剖腹产生下了一个健康的婴儿。新生儿核型正常（46，XX）。结论：高解析度核型和PGT-SR对接受体外受精的患者，特别是男性因素严重、反复体外受精失败、植入失败或反复妊娠丢失的患者，可提高成功妊娠的机会。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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