利用荧光聚合酶链反应和自动激光荧光DNA测序仪对马凡综合征进行植入前基因诊断。
Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA Sequencer.
作者信息
Sermon K, Lissens W, Messiaen L, Bonduelle M, Vandervorst M, Van Steirteghem A, Liebaers I
机构信息
Center for Medical Genetics, University Hospital and Medical School, Dutch-speaking Brussels Free University, Belgium.
出版信息
Fertil Steril. 1999 Jan;71(1):163-6. doi: 10.1016/s0015-0282(98)00412-9.
OBJECTIVE
To develop and apply clinical preimplantation genetic diagnosis (PGD) for Marfan syndrome.
DESIGN
Case report.
SETTING
Centers for medical genetics and reproductive medicine in university hospitals.
PATIENT(S): One couple in which the husband was affected with Marfan syndrome.
INTERVENTION(S): The couple underwent three intracytoplasmic sperm injection cycles.
MAIN OUTCOME MEASURE(S): The correct diagnosis was obtained for embryos in three PGD cycles.
RESULT(S): Although all the PGD cycles were followed by ET, no pregnancy ensued.
CONCLUSION(S): This assay can provide a reliable and accurate preimplantation diagnosis of Marfan syndrome.
目的
开发并应用针对马凡综合征的临床植入前基因诊断（PGD）。
设计
病例报告。
地点
大学医院的医学遗传学和生殖医学中心。
患者
一对夫妻，丈夫患有马凡综合征。
干预措施
这对夫妻接受了三个卵胞浆内单精子注射周期。
主要观察指标
在三个PGD周期中均对胚胎做出了正确诊断。
结果
尽管所有PGD周期后均进行了胚胎移植，但未成功妊娠。
结论
该检测方法可为马凡综合征提供可靠且准确的植入前诊断。
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