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

OBJECTIVE

To use preimplantation genetic diagnosis to achieve Smith-Lemli-Opitz syndrome -free pregnancies in two couples at high risk of producing an affected child.

DESIGN

Case report.

SETTING

A private IVF unit.

PATIENT(S): Two couples carrying the W151X mutation in the DHCR7 gene.

INTERVENTION(S): Removal and testing for the W151X mutation in blastomeres from embryos after standard IVF.

MAIN OUTCOME MEASURE(S): DNA analysis of blastomeres indicating whether corresponding embryos were mutation-free, for the purpose of transferring only unaffected embryos.

RESULT(S): Delivery of healthy children without the W151X mutation in the DHCR7 gene.

CONCLUSION(S): This is the first report of preimplantation genetic diagnosis for Smith-Lemli-Opitz syndrome, allowing transfer of mutation-free embryos and successful pregnancies.