Over a decade of experience with preimplantation genetic diagnosis: A multicenter report

Abstract

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.