Should gamete donors be tested for spinal muscular atrophy?
OBJECTIVE
To report two cases of spinal muscular atrophy (SMA) after artificial insemination and to discuss why genetic screening of the disease may be justified in gamete donors.


METHODS
Case report.


METHODS
Academic departments of genetics and obstetrics.


METHODS
A 32-year-old woman with two successive assisted pregnancies.


METHODS
Molecular studies of the SMN1 (survival motor neuron), the determining gene of the disease. MAIN OUTCOME MEASURE(S); Prenatal testing to detect a homozygous deletion of the SMN1 gene; carrier diagnosis by quantitative analysis to detect a single or double dose of exon 7 in the SMN1 gene.


RESULTS
After a first assisted pregnancy, an SMA child with a homozygous deletion of the SMN1 gene was born. In the second assisted pregnancy, using sperm from a different donor, a fetus with a homozygous deletion of SMN1 was detected. Carrier status in the donor was confirmed by a single dose of SMN1 in the quantitative analysis.


CONCLUSIONS
Genetic screening of SMA carrier status by quantitative analysis of the SMN1 gene should be performed in gamete donors when the recipient is a known carrier. Cost-benefit analysis should be made to consider the inclusion of the test in prospective gamete donor programs.
Tizzano
Eduardo F
EF
Genetics and Research Institute, Hospital de Sant Pau, Padre Claret 167, 08025 Barcelona, Spain. etizzano@hsp.santpau.es
Cuscó
Ivón
I
Barceló
María Jesús
MJ
Parra
Juan
J
Baiget
Montserrat
M
D000328:Adult; D017362:Cyclic AMP Response Element-Binding Protein; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007315:Insemination, Artificial / Q000235:genetics*; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000235:genetics* / Q000517:prevention & control; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D055533:Survival of Motor Neuron 1 Protein; D014019:Tissue Donors
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein; D004247:DNA