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.
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.
Authors: Andrea E DeBarber; Yasemen Eroglu; Louise S Merkens; Anuradha S Pappu; Robert D Steiner Journal: Expert Rev Mol Med Date: 2011-07-22 Impact factor: 5.600