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Updated: Aug 23, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Over a decade of experience with preimplantation genetic diagnosis: a multicenter report
Yury Verlinsky1, Jacques Cohen, Santiago Munne
1Reproductive Genetics Institute, 2825 North Halsted, Chicago, IL 60657, USA.
Objective:
To review a 12-year experience of the world's three largest preimplantation genetic diagnosis (PGD) centers.
Design:
Multicenter analysis of the clinical outcome of PGD.
Setting:
In vitro fertilization programs at the Reproductive Genetics Institute, Chicago, Illinois; Saint Barnabas Medical Center, West Orange, New Jersey; and SISMER, Bologna, Italy.
Patient(S):
Poor-prognosis IVF patients, patients carrying balanced chromosomal translocations, and couples at risk for producing children with Mendelian disorders.
Intervention(S):
In vitro fertilization, intracytoplasmic sperm injection, polar body removal, blastomere biopsy, and ET.
Main Outcome Measure(S):
DNA or chromosomal analysis of biopsied polar bodies or blastomeres, implantation and clinical pregnancy rates, and live-born pregnancy outcome.
Result(S):
A total of 754 babies have been born as a result of 4,748 PGD attempts, which shows the expanded application and the practical relevance of PGD for single-gene disorders, chromosomal aneuploidies and translocations, late-onset diseases with genetic predisposition, and nondisease testing in couples at need for human leukocyte antigens-matched offspring for treatment of affected siblings.
Conclusion(S):
Preimplantation genetic diagnosis is evolving to become a clinical option for couples at risk for producing offspring with Mendelian diseases, has a positive numerical impact in standard assisted reproduction practices through aneuploidy testing, and reduces by at least fourfold the spontaneous abortion rate in couples carrying translocations.
