Rouen Alexandre, Hyon Capucine, Balet Richard, Joyé Nicole, Cassuto Nino Guy, Siffroi Jean-Pierre
Medical Genetics and Embryology Department, AP-HP, Trousseau Hospital, 28 avenue du Docteur Arnold Netter, 75012 Paris, France.
Reproductive Medicine Department, Bluets Hospital, 4 rue Lasson, 75012 Paris, France.
Case Rep Genet. 2014;2014:906145. doi: 10.1155/2014/906145. Epub 2014 Jan 23.
Introduction. Balanced chromosomal carriers, though usually healthy, are confronted with recurrent spontaneous abortions and malformations in the offspring. Those are related to the transmission of an abnormal, chromosomally unbalanced genotype. We evidenced that the proportion of unbalanced spermatozoa can be significantly decreased through a sperm preparation process called discontinuous gradient centrifugation (DGC). We therefore started offering intrauterine inseminations with this procedure to couples with a male translocation carriers. Case Presentation. We report the case of a 37-year-old man carrying a t(3;10)(q25;p13) reciprocal translocation. He and his partner had had trouble conceiving for ten years and had four spontaneous abortions. DGC in this patient decreased the proportion of unbalanced spermatozoa from 63.6% to 52.3%. They were therefore offered intrauterine insemination with DGC, which eventually led to the birth of a healthy female child carrying the paternal translocation. Conclusion. We showed that translocation carriers could be offered intrauterine inseminations with DGC. Before this, the only two options were natural conception with prenatal diagnosis and termination of chromosomally unbalanced fetuses or preimplantation genetic diagnosis, which is a much heavier and costly procedure. We are currently offering this option through a multicentric program in France, and this is the first birth originating from it.
引言。染色体平衡携带者通常健康,但面临后代反复自然流产和畸形的问题。这些与异常的、染色体不平衡基因型的传递有关。我们证明,通过一种称为间断梯度离心(DGC)的精子制备过程,不平衡精子的比例可显著降低。因此,我们开始为男性易位携带者夫妇提供采用该方法的宫内授精。病例报告。我们报告一例37岁男性携带t(3;10)(q25;p13)相互易位的病例。他和他的伴侣十年未育且有四次自然流产。该患者经DGC处理后,不平衡精子的比例从63.6%降至52.3%。因此,他们接受了采用DGC的宫内授精,最终产下一名携带父系易位的健康女婴。结论。我们表明,可为易位携带者提供采用DGC的宫内授精。在此之前,仅有的两种选择是进行产前诊断的自然受孕并终止染色体不平衡胎儿妊娠,或者进行胚胎植入前遗传学诊断,这是一个更为繁重且昂贵的过程。我们目前正在法国通过一个多中心项目提供这一选择,这是由此诞生的首例婴儿。