Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn.
OBJECTIVE
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.


METHODS
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.


METHODS
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.
Xu
Kangpu
K
Institute for Reproductive Medicine, New York Presbyterian Hospital-Weill Medical College of Cornell University, New York, New York 10021, USA. Kpxu@med.cornell.edu
Rosenwaks
Zev
Z
Beaverson
Katherine
K
Cholst
Ina
I
Veeck
Lucinda
L
Abramson
David H
DH
D000328:Adult; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D004624:Embryo Transfer; D047108:Embryonic Development; D005260:Female; D005307:Fertilization in Vitro; D016161:Genes, Retinoblastoma; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011256:Pregnancy Outcome; D019836:Preimplantation Diagnosis; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000235:genetics; D012175:Retinoblastoma / Q000175:diagnosis* / Q000235:genetics; D016160:Retinoblastoma Protein / Q000235:genetics*
D004273:DNA, Neoplasm; D016160:Retinoblastoma Protein