Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations

Abstract

Objective: To report live birth rates (LBR) and total aneuploidy rates in a series of patients with balanced translocations who pursued in vitro fertilization (IVF)-preimplantation genetic diagnosis (PGD) cycles.

Design: Retrospective cohort analysis.

Setting: Genetic testing reference laboratory.

Patient(s): Seventy-four couples who underwent IVF-PGD due to a parental translocation.

Intervention(s): IVF cycles and embryo biopsies were performed by referring clinics. Biopsy samples were sent to a single reference lab for PGD for the translocation plus 24-chromosome aneuploidy screening with the use of a single-nucleotide polymorphism (SNP) microarray.

Main outcome measure(s): LBR per biopsy cycle, aneuploidy rate, embryo transfer (ET) rate, miscarriage rate.

Result(s): The LBR per IVF biopsy cycle was 38%. LBR for patients reaching ET was 52%. Clinical miscarriage rate was 10%. Despite a mean age of 33.8 years and mean of 7 embryos biopsied, there was a 30% chance for no chromosomally normal embryos. Maternal age >35 years, day 3 biopsy, and having fewer than five embryos available for biopsy increased the risk of no ET.

Conclusion(s): IVF-PGD for translocation and aneuploidy screening had good clinical outcomes. Patients carrying a balanced translocation who are considering IVF-PGD should be aware of the high risk of no ET, particularly in women ≥35 years old.

Keywords: Robertsonian translocation; aneuploidy; preimplantation genetic diagnosis (PGD); reciprocal translocation.