Related Experiment Video
Updated: Aug 29, 2026
Reconstruct Human Retinoblastoma In Vitro
Published on: October 11, 2022
Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn
Kangpu Xu1, Zev Rosenwaks, Katherine Beaverson
1Institute for Reproductive Medicine, New York Presbyterian Hospital-Weill Medical College of Cornell University, New York, New York 10021, USA. Kpxu@med.cornell.edu
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.
Conclusions:
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.
