Elsevier

Fertility and Sterility

Volume 77, Issue 2, February 2002, Pages 409-411
Fertility and Sterility

Case report
Should gamete donors be tested for spinal muscular atrophy?

https://doi.org/10.1016/S0015-0282(01)02994-6Get rights and content
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Abstract

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.

Design: Case report.

Setting: Academic departments of genetics and obstetrics.

Patient(s): A 32-year-old woman with two successive assisted pregnancies.

Intervention(s): 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.

Result(s): 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.

Conclusion(s): 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.

Keywords

Semen donors
carrier diagnosis
prenatal diagnosis
SMN deletion
spinal muscular atrophy

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Supported by Telemarató Malalties Hereditaries 98/810 and Fondo Investigacion Sanitaria (FIS) 00/481.