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

Abstract excerpt

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...

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