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Updated: Jun 19, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Successful pregnancy in a complex chromosomal rearrangement carrier using preimplantation genetic testing for
Yacong Wang1, Xue Ke, Xuefei Liang
1Department of Reproduction and Infertility, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
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.
