Fertility and sterility · 2008
Pregnancy outcome after preimplantation genetic diagnosis in an affected couple with X-linked adrenoleukodystrophy.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Iglesias Miriam, Ceballos Patricia, Giménez Carles, García-Nebreda Maria Isabel, Domínguez Raquel, García-Enguídanos Alberto
Аннотация
OBJECTIVE: To achieve a pregnancy free of X-linked adrenoleukodystrophy (X-ALD) by intracytoplasmic sperm injection (ICSI) and preimplantation genetic diagnosis (PGD).
DESIGN: Case report.
SETTING: Clínica FIV Recoletos, a private IVF center.
PATIENT(S): A couple in which the man had X-ALD.
INTERVENTION(S): The ICSI protocol and PGD of the obtained embryos.
MAIN OUTCOME MEASURE(S): Blastomeres were analyzed by fluorescence in situ hybridization using sex selection techniques. Embryos were transferred and pregnancy was diagnosed by hCG analysis and ultrasonographic examination.
RESULT(S): Ten embryos were obtained by ICSI. A biopsy was taken from eight embryos to perform PGD and two male embryos were transferred resulting in a twin pregnancy.
CONCLUSION(S): This is the first registered gestation in which PGD has been used to prevent X-ALD transmission.
DESIGN: Case report.
SETTING: Clínica FIV Recoletos, a private IVF center.
PATIENT(S): A couple in which the man had X-ALD.
INTERVENTION(S): The ICSI protocol and PGD of the obtained embryos.
MAIN OUTCOME MEASURE(S): Blastomeres were analyzed by fluorescence in situ hybridization using sex selection techniques. Embryos were transferred and pregnancy was diagnosed by hCG analysis and ultrasonographic examination.
RESULT(S): Ten embryos were obtained by ICSI. A biopsy was taken from eight embryos to perform PGD and two male embryos were transferred resulting in a twin pregnancy.
CONCLUSION(S): This is the first registered gestation in which PGD has been used to prevent X-ALD transmission.
Предметные рубрики MeSH
AdrenoleukodystrophyAdultChromosomes, Human, Pair 18Chromosomes, Human, XChromosomes, Human, YEmbryo TransferFemaleGenetic TestingHumansIn Situ Hybridization, FluorescenceMalePregnancyPregnancy, MultiplePreimplantation DiagnosisSex Determination AnalysisSex PreselectionSperm Injections, IntracytoplasmicTwinsYoung Adult