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

Capsule:
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.

Authors:
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

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.

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