Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn

Xu, Kangpu; Rosenwaks, Zev; Beaverson, Katherine; Cholst, Ina; Veeck, Lucinda; Abramson, David H.

doi:10.1016/S0002-9394(03)00872-9

« Previous Next »American Journal of Ophthalmology
Volume 137, Issue 1 , Pages 18-23, January 2004

Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn

Kangpu Xu, PhD
- Institute for Reproductive Medicine (K.X., Z.R., I.C., L.V.), New York Presbyterian Hospital–Weill Medical College of Cornell University, New York, New York, USA
- Inquiries to Kangpu Xu, PhD, CRMI, Weill Medical College of Cornell University, Box 30, 1300 York Avenue, New York, NY 10021, USA; fax: (212) 746-8589
Zev Rosenwaks, MD
- Institute for Reproductive Medicine (K.X., Z.R., I.C., L.V.), New York Presbyterian Hospital–Weill Medical College of Cornell University, New York, New York, USA
Katherine Beaverson, MS
- Department of Ophthalmology (K.B., D.H.A.), New York Presbyterian Hospital–Weill Medical College of Cornell University, New York, New York, USA
Ina Cholst, MD
- Institute for Reproductive Medicine (K.X., Z.R., I.C., L.V.), New York Presbyterian Hospital–Weill Medical College of Cornell University, New York, New York, USA
Lucinda Veeck, DSc
- Institute for Reproductive Medicine (K.X., Z.R., I.C., L.V.), New York Presbyterian Hospital–Weill Medical College of Cornell University, New York, New York, USA
David H. Abramson, MD, FACS
- Department of Ophthalmology (K.B., D.H.A.), New York Presbyterian Hospital–Weill Medical College of Cornell University, New York, New York, USA

Accepted 22 July 2003.

InternetAdvance publication at ajo.com July 23, 2003.

Abstract

Purpose

To develop an accurate mutation analysis procedure for retinoblastoma gene (RB1) mutation, which is sensitive at the single-cell level, and to use in vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) to achieve pregnancies without retinoblastoma.

Design

Case report.

Methods

Twelve day 3 embryos, obtained by IVF with intracytoplasmic sperm injection, underwent single-cell DNA testing via polymerase chain reaction and restriction enzyme analysis to detect the presence of a paternal RB1 mutation. Embryos were diagnosed as being unaffected and were transferred to the uterus on day 5.

Main outcome measures

Achieving a healthy pregnancy and delivery, assessed by clinical presentation, fundus photography, and RB1 molecular analysis.

Results

A singleton pregnancy was achieved, and a child without retinoblastoma was born. The absence of the paternal RB1 mutation was confirmed on a sample of peripheral blood from the newborn.

Conclusion

We are first to report a successful human liveborn, delivered after IVF with preimplantation genetic diagnosis for retinoblastoma. The successful result indicates that preimplantation genetic diagnosis exists for this genetic disease and may represent a viable alternative to prenatal diagnosis with the subsequent option of terminating an affected pregnancy.