Outcome and experience of implementing spinal muscular atrophy carrier screening on sperm donors.
Spinal muscular atrophy (SMA) carrier screening was performed on 277 active semen donors and new semen donor applicants; five men tested positive as carriers for SMA. The risk for specific medical problems in donor offspring can be significantly reduced by incorporating new genetic tests, such as spinal muscular atrophy carrier screening, into donor screening practices; however, future efforts should focus on communicating the limitations of genetic screening to donor gamete recipients and on the development of guidelines for implementing new genetic tests on donors.
Callum
Pamela
P
Genetics Department, California Cryobank, Los Angeles, California 90025, USA. pcallum@cryobank.com
Iger
Jennifer
J
Ray
Marilyn
M
Sims
Charles A
CA
Falk
Rena E
RE
D001816:Bloom Syndrome / Q000208:ethnology / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D007585:Jews / Q000235:genetics; D008297:Male; D009081:Mucolipidoses / Q000208:ethnology / Q000235:genetics; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D053484:RecQ Helicases / Q000235:genetics; D012189:Retrospective Studies; D013094:Spermatozoa; D055533:Survival of Motor Neuron 1 Protein / Q000235:genetics; D050053:TRPM Cation Channels / Q000235:genetics; D014019:Tissue Donors; D050051:Transient Receptor Potential Channels
C416674:MCOLN1 protein, human; D055533:Survival of Motor Neuron 1 Protein; D050053:TRPM Cation Channels; D050051:Transient Receptor Potential Channels; C097151:Bloom syndrome protein; D053484:RecQ Helicases