Successful pregnancy in a complex chromosomal rearrangement carrier using preimplantation genetic testing for structural rearrangements: A case report.

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.