Gonzalez-Merino E, Emiliani S, Pichon B, Parma J, Vannin A S, Delbaere A, Vassart G, Abramowicz M, Englert Y
Clinique de Fertilité, Service de Gynécologie-Obstétrique, Hôpital Erasme, Bruxelles.
Rev Med Brux. 2008 Nov-Dec;29(6):527-34.
The clinical activity of the preimplantation genetic diagnosis (PGD) at Erasme Hospital was carried out since September 1999 for a 47,XYY patient. Up to 31 December 2007, 79 PGD cycles were carried out (45 couples) for either chromosomal structural abnormalities (robertsonian and reciprocal translocations, pericentric inversion, deletion) (n = 41), chromosomal numerical abnormalities (47,XXY, 47,XYY, 45,X/46,XX) (n = 10), aneuploidy screening for recurrent miscarriages or multiple in vitro fertilization failures (n = 10), autosomal recessive diseases (cystic fibrosis and sickle cell anaemia) (n = 12) or X-linked disorders (n = 6). A total of 475 embryos were biopsied for genetic analysis. Unaffected embryos were transferred in 58 cycles, resulting in 22 pregnancies, including fifteen clinical pregnancies. Up to now, 9 babies were born and 3 pregnancies are still ongoing. After a learning curve, our current PGD efficiency shows a total pregnancy rate per transfer of 60.0% and an implantation rate of 28.6%. Each PGD result was confirmed by prenatal or postnatal diagnosis. Our data demonstrate that PGD is a valid technique to allow couples at high risk of transmitting a genetic abnormality to increase their chances of a healthy pregnancy, but considering its complexity, patients must be counselled and selected rigorously.
自1999年9月起，伊拉斯谟医院对一名47,XYY患者开展了植入前基因诊断（PGD）临床活动。截至2007年12月31日，共进行了79个PGD周期（45对夫妇），涉及染色体结构异常（罗伯逊易位和相互易位、臂间倒位、缺失）（n = 41）、染色体数目异常（47,XXY、47,XYY、45,X/46,XX）（n = 10）、复发性流产或多次体外受精失败的非整倍体筛查（n = 10）、常染色体隐性疾病（囊性纤维化和镰状细胞贫血）（n = 12）或X连锁疾病（n = 6）。总共对475个胚胎进行了活检以进行基因分析。在58个周期中移植了未受影响的胚胎，导致22次妊娠，其中包括15次临床妊娠。截至目前，已出生9名婴儿，仍有3次妊娠正在进行中。经过一个学习曲线后，我们目前的PGD效率显示每次移植的总妊娠率为60.0%，着床率为28.6%。每个PGD结果均通过产前或产后诊断得到证实。我们的数据表明，PGD是一种有效的技术，可使有遗传异常传递高风险的夫妇增加获得健康妊娠的机会，但考虑到其复杂性，必须对患者进行严格的咨询和选择。
