Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome

Abstract

To use preimplantation genetic diagnosis to achieve Smith-Lemli-Opitz syndrome -free pregnancies in two couples at high risk of producing an affected child. Case report. A private IVF unit. Two couples carrying the W151X mutation in the DHCR7 gene. Removal and testing for the W151X mutation in blastomeres from embryos after standard IVF. DNA analysis of blastomeres indicating whether corresponding embryos were mutation-free, for the purpose of transferring only unaffected embryos. Delivery of healthy children without the W151X mutation in the DHCR7 gene. This is the first report of preimplantation genetic diagnosis for Smith-Lemli-Opitz syndrome, allowing transfer of mutation-free embryos and successful pregnancies.