Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn.
Am J Ophthalmol
; 137(1): 18-23, 2004 Jan.
Article
in En
| MEDLINE
| ID: mdl-14700639
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 OUTCOMEMEASURES:
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retinoblastoma
/
Genes, Retinoblastoma
/
Retinoblastoma Protein
/
Retinal Neoplasms
/
Preimplantation Diagnosis
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Language:
En
Journal:
Am J Ophthalmol
Year:
2004
Document type:
Article
Affiliation country:
United States