Keymolen Kathelijn, Goossens Veerle, De Rycke Martine, Sermon Karen, Boelaert Kristel, Bonduelle Maryse, Van Steirteghem André, Liebaers Inge
Centre for Medical Genetics, Vrije Universiteit Brussel, Belgium.
Eur J Hum Genet. 2007 Jul;15(7):752-8. doi: 10.1038/sj.ejhg.5201834. Epub 2007 Apr 18.
Preimplantation genetic diagnosis is an alternative for prenatal diagnosis that makes it possible to perform the diagnosis of a chromosomal or monogenic disorder at the preimplantation embryo level. Cystic fibrosis is one of the monogenic diseases for which PGD can be performed. In this study, we looked at the requests and PGD cycles for this particular disorder over an 11-year period. Sixty-eight percent of the requests eventually led to at least one complete PGD cycle. In 80% of the cycles, an embryo transfer was performed and an ongoing pregnancy was obtained in 22.2% of the cycles with oocyte retrieval. After embryo transfer, a couple had 27.8% chance of giving birth to a liveborn child. No misdiagnosis was recorded. The rate of perinatal deaths/stillborn children was relatively high, but no excess of major congenital anomalies was observed in the surviving children.
植入前基因诊断是产前诊断的一种替代方法，它使得在植入前胚胎水平上对染色体或单基因疾病进行诊断成为可能。囊性纤维化是可以进行植入前基因诊断的单基因疾病之一。在本研究中，我们观察了11年间针对这种特定疾病的申请及植入前基因诊断周期。68%的申请最终至少导致一个完整的植入前基因诊断周期。在80%的周期中进行了胚胎移植，在取卵的周期中有22.2%获得了持续妊娠。胚胎移植后，夫妇生育活产婴儿的几率为27.8%。未记录到误诊情况。围产期死亡/死产儿的发生率相对较高，但在存活儿童中未观察到主要先天性异常的增加。
