Fertility and sterility · 2008
Pregnancy and life after preimplantation genetic diagnosis of Smith-Lemli-Opitz syndrome.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Liss Joanna, Lukaszuk Krzysztof, Bruszczyńska Anna, Szczerkowska Zofia, Rebala Krzysztof
Аннотация
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.
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.