Should gamete donors be tested for spinal muscular atrophy?

Fertil Steril. 2002 Feb;77(2):409-11. doi: 10.1016/s0015-0282(01)02994-6.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cyclic AMP Response Element-Binding Protein
  • DNA / chemistry
  • DNA / genetics
  • Female
  • Genetic Testing
  • Humans
  • Infant, Newborn
  • Insemination, Artificial / genetics*
  • Male
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / prevention & control
  • Nerve Tissue Proteins / chemistry
  • Nerve Tissue Proteins / genetics*
  • Polymerase Chain Reaction
  • Pregnancy
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • Survival of Motor Neuron 1 Protein
  • Tissue Donors*

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • SMN1 protein, human
  • Survival of Motor Neuron 1 Protein
  • DNA