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

Twenty-four–chromosome preimplantation genetic diagnosis in translocation carriers yields a live birth rate of 52% per embryo transfer and 38% per biopsy cycle. Thirty percent of cycles had no euploid embryos.

Dennis Idowu, M.D., Katrina Merrion, M.S., Nina Wemmer, M.S., Janine Gessner Mash, M.S., Barbara Pettersen, M.S., Dusan Kijacic, M.S., Ruth B. Lathi, M.D.

Volume 103, Issue 4, Pages 1037-1042


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.

Retrospective cohort analysis.

Genetic testing reference laboratory.

Seventy-four couples who underwent IVF-PGD due to a parental translocation.

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.

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.

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.

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