BIRTH OF HEALTHY-CHILDREN AFTER PREIMPLANTATION DIAGNOSIS OF COMMON ANEUPLOIDIES BY POLAR BODY FLUORESCENT IN-SITU HYBRIDIZATION ANALYSIS

Objective: To perform preimplantation diagnosis of common aneuploidies by polar body analysis and fluorescent in situ hybridization techniqu e using probes specific for chromosomes X, 18, and 13/21. Design: The first and/or second polar bodies were removed and studied by fluoresce nt in situ hybridization to detect and avoid fertilization and transfe r of oocytes with common aneuploidies. Setting: The Reproductive Genet ics Institute's IVF program at Illinois Masonic Medical Center. Patien ts: One hundred ninety-three couples of advanced maternal age (34 to 4 6 years) undergoing IVF treatment volunteered to be part of a clinical trial on preimplantation polar body diagnosis of common aneuploidies. Interventions: Using micromanipulation procedures, the first and seco nd polar bodies were removed after their extrusion from the oocytes. M ain Outcome Measure: Fluorescent in situ hybridization signals specifi c for chromosomes X, 18, and 13/21. Results: In 235 IVF cycles pet-for med in 193 couples, 1,293 oocytes were biopsied and subjected to fluor escent in situ hybridization analysis, with fluorescent in situ hybrid ization results available in 993 oocytes (76.8%). Of 993 oocytes with fluorescent in situ hybridization results, 665 (67%) were predicted to be normal based on the chromosomes studied; 460 embryos resulting fro m these oocytes were transferred in 187 treatment cycles, resulting in 12 births of healthy children and 18 ongoing pregnancies after confir mation of the polar body diagnosis by chorionic villus sampling or amn iocentesis. Conclusion: Polar body fluorescent in situ hybridization a nalysis may be used for preimplantation diagnosis of common aneuploidi es in IVF patients of advanced maternal age.