OBJECTIVE: To report two cases of @entity2057 ( @entity2057 ) after artificial insemination and to discuss why genetic screening of the disease may be justified in gamete donors. DESIGN: Case report. SETTING: Academic departments of genetics and obstetrics. @entity1 (S): A 32-year-old @entity1 with two successive assisted pregnancies. INTERVENTION(S): Molecular studies of the @entity11280 (survival motor neuron), the determining gene of the disease. MAIN OUTCOME MEASURE(S); Prenatal testing to detect a homozygous deletion of the @entity11280 gene; carrier diagnosis by quantitative analysis to detect a single or double dose of exon 7 in the @entity11280 gene. RESULT(S): After a first assisted pregnancy, an @entity2057 @entity1 with a homozygous deletion of the @entity11280 gene was born. In the second assisted pregnancy, using sperm from a different donor, a fetus with a homozygous deletion of @entity11280 was detected. Carrier status in the donor was confirmed by a single dose of @entity11280 in the quantitative analysis. CONCLUSION(S): Genetic screening of @entity2057 carrier status by quantitative analysis of the @entity11280 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.

Should gamete donors be tested for XXXX ?

@entity1 :: ('9606', 'Species') :: ['woman', 'child', 'PATIENT'] @entity2057 :: ('MESH:D009133', 'Disease') :: ['spinal muscular atrophy', 'SMA'] @entity11280 :: ('6606', 'Gene') :: ['SMN1']
@entity2057 :: (MESH:D009133,Disease) :: ['spinal muscular atrophy']
