Yaneva N, Baycheva M, Kostova P, Papochieva V, Mileva S, Miteva D, Savov A, Petrova G
National genetic laboratory- Maichin dom, Sofia, Bulgaria.
Medical University Sofia, Pediatric department, Sofia, Bulgaria.
Balkan J Med Genet. 2023 Jul 31;26(1):83-88. doi: 10.2478/bjmg-2023-0001. eCollection 2023 Jul.
Pre-implantation genetic diagnosis (PGD) is not often performed when donor gametes are used, due to its high cost. This is with the presumption that the donors are healthy. We report on five cases of babies with confirmed cystic fibrosis (CF), being the result from in vitro fertilization (IVF) with donor (4 cases) or own gametes (one case). There has been no family history for CF in any of the families affected. The clinical presentation in the children ranged from meconium ileus to recurrent respiratory infections and severe nasal polyposis. The age of diagnosis also varied from birth until 9 years. Since one of the presented cases was discovered in a very renowned private IVF clinic, the clinic changed their own protocol, and currently they test every donor for CF carriership. The percentage of CF carriers in the donor population is roughly the same as the one predicted in the general population of Bulgaria - 1/33. Although PGD is costly, the costs for proper care for a CF patient are currently much higher. The more economical option would to screen every donor for CF carriership. IVF requires a lot of physical and psychological stamina. The couples that go through this procedure also require a great deal of hope. It is essential to be more preconscious for possible congenital diseases. We advocate every IVF center to test the donors for CF carriership or to provide PGD for their clients.
由于成本高昂,在使用供体配子时,胚胎植入前基因诊断(PGD)并不常进行。这是基于供体健康的假定。我们报告了5例确诊为囊性纤维化(CF)的婴儿病例,这些病例是由使用供体配子(4例)或自身配子(1例)的体外受精(IVF)导致的。在任何受影响的家庭中都没有CF的家族病史。儿童的临床表现从胎粪性肠梗阻到反复呼吸道感染和严重鼻息肉不等。诊断年龄也从出生到9岁各不相同。由于其中一个病例是在一家非常著名的私立IVF诊所发现的,该诊所改变了自己的方案,目前他们对每个供体进行CF携带者检测。供体人群中CF携带者的比例与保加利亚普通人群中预测的比例大致相同——1/33。虽然PGD成本高昂,但目前CF患者的适当护理成本要高得多。更经济的选择是对每个供体进行CF携带者筛查。IVF需要大量的体力和心理耐力。经历这个过程的夫妇也需要很大的希望。对可能的先天性疾病更加有预先意识是至关重要的。我们主张每个IVF中心对供体进行CF携带者检测或为其客户提供PGD。