Spinal muscular atrophy (SMA) after conception using gametes from anonymous donors: recommendations for the future.

TitleSpinal muscular atrophy (SMA) after conception using gametes from anonymous donors: recommendations for the future.
Publication TypeJournal Article
Year of Publication2010
AuthorsCallum P, Urbina MT, Falk RE, Alvarez-Diaz JA, Benjamin I, Sims CA
Volume93
Issue3
Date PublishedFeb
ISSN1556-5653
Accession Number19962137
KeywordsFemale, Genetic Predisposition to Disease, Genetic Testing, Humans, IM, Infant, Infertility, Female / th [Therapy], Male, Middle Aged, Pregnancy, Sperm Injections, Intracytoplasmic, Spermatozoa, Spinal Muscular Atrophies of Childhood / di [Diagnosis], Spinal Muscular Atrophies of Childhood / ge [Genetics], Spinal Muscular Atrophies of Childhood / pc [Prevention & Control], Survival of Motor Neuron 1 Protein / ge [Genetics], Tissue Donors, Young Adult
Abstract

OBJECTIVE: To discuss the diagnosis of spinal muscular atrophy in a child conceived using donor gametes. DESIGN: None. SETTING: None. PATIENT(S): Offspring of gamete donors. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): None. RESULT(S): A child conceived using gametes from anonymous sperm and ova donors was diagnosed with spinal muscular atrophy type 1. CONCLUSION(S): Gamete donor facilities are not required to perform extensive genetic testing on their donors; however, the well-being of the children conceived through assisted reproductive technologies should be a primary objective of reproductive medicine. The risk for specific medical problems in donor offspring can be significantly reduced by incorporating carrier screening for common, severe disorders such as spinal muscular atrophy into donor screening practices. Future efforts should focus on communicating the limitations of genetic screening to donor gamete recipients and educating them about their reproductive options. Copyright 2010 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

URLhttp://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&D=medl&AN=19962137
Alternate JournalFertil.Steril.
Notify Library Reference ID1750