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  • Title: Pregnancy outcomes following 24-chromosome preimplantation genetic diagnosis in couples with balanced reciprocal or Robertsonian translocations.
    Author: Idowu D, Merrion K, Wemmer N, Mash JG, Pettersen B, Kijacic D, Lathi RB.
    Journal: Fertil Steril; 2015 Apr; 103(4):1037-42. PubMed ID: 25712573.
    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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