Successful Pregnancy in a Complex Chromosomal Rearrangement Carrier Using Preimplantation Genetic Testing for Structural Rearrangements: A Case Report

Overview

Journal Medicine (Baltimore)

Date 2025 Jan 31

PMID 39889149

Authors

Yacong Wang

Xue Ke

Xuefei Liang

Xiaolan Ouyang

Xiaoxi Yang

Fang Wang

Affiliations

Soon will be listed here.

Abstract

Rationale: Complex chromosomal rearrangements (CCRs) frequently lead to unfavorable reproductive consequences, such as recurrent miscarriage. Preimplantation genetic testing for structural rearrangements (PGT-SR) has become a successful method for embryo diagnosis in CCR families.

Patient Concerns: A woman of childbearing age experienced repeated miscarriages during her attempts to conceive.

Diagnoses: A woman was diagnosed with a combined Robertsonian translocation involving chromosomes 13 and 15 (robs[13;15]) and a reciprocal translocation involving chromosomes 10 and 12 (t[10;12]). She had undergone 5 previous embryonic terminations.

Interventions: The couple underwent assisted reproductive technology with ovulation induction using a high-progesterone progestin-primed ovarian stimulation protocol, followed by intracytoplasmic sperm injection and blastocyst culture. Embryo biopsy was carried out on days 5 and 6, and PGT-SR was employed for genetic diagnosis.

Outcomes: After aneuploidy detection by PGT-SR, the sole remaining blastocyst underwent preimplantation genetic testing for aneuploidy for confirmation and subsequent transfer. Prenatal diagnosis and follow-up after birth were conducted.

Lessons: For CCR carriers, particularly couples with a history of recurrent abortion, PGT-SR has the potential to address their reproductive predicament by enhancing their likelihood of achieving a successful pregnancy.

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