Molecular Human Reproduction, Vol. 7, No. 10, 995-1000,
October 2001
© 2001 European Society of Human Reproduction and Embryology
Reproductive genetics |
Six unaffected livebirths following preimplantation diagnosis for spinal muscular atrophy
1 Guy's and St Thomas' Centre for Preimplantation Genetic Diagnosis, Guy's, King's and St Thomas' School of Medicine, Guy's and St Thomas' Hospital, London SE1 7EH, UK 2 Present address: Division of Reproductive Endocrinology and Infertility, Mayo Clinic, Rochester, Minnesota, USA 3 Present address: School of Biology, University of Leeds, Leeds, UK 4 To whom correspondence should be addressed. E-mail: pgd{at}kcl.ac.uk
Abstract
Spinal muscular atrophy (SMA) is a severe neurodegenerative autosomal recessive disorder, second only in frequency to cystic fibrosis. In its most severe form, SMA type I (Werdnig–Hoffman), death invariably ensues before age 2 years from respiratory failure or infection. Around 98% of clinical cases of SMA are caused by the homozygous absence of a region of exons 7 and 8 of the telomeric copy of the SMN gene (SMN1) on chromosome 5. We have developed a novel means of preimplantation diagnosis of SMA using a nested polymerase chain reaction (PCR) amplification of exon 7 of SMN, followed by a HinfI restriction digest of the PCR product enabling the important SMN1 gene to be distinguished from the centromeric SMN2 gene which has no clinical phenotype. This method was designed to reduce the likelihood of misdiagnosis. Five couples were treated using this method. Four proceeded to embryo transfer which resulted in six liveborns (one singleton, one twin and one triplet), all free of SMA. Embryo transfer was not performed in one cycle because of PCR contamination.
preimplantation genetic diagnosis/SMN1/spinal muscular atrophy
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