Preventable Hazards from in Vitro Fertilization - A Case Series of CF Patients from Bulgaria.

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Balkan Journal of Medical Genetics Pub Date : 2023-07-01 DOI:10.2478/bjmg-2023-0001
N Yaneva, M Baycheva, P Kostova, V Papochieva, S Mileva, D Miteva, A Savov, G Petrova
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Abstract

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.

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体外受精可预防的危害——保加利亚CF患者的病例系列。
由于费用高,当使用供体配子时,通常不进行胚胎植入前遗传学诊断(PGD)。这是在捐赠者健康的前提下进行的。我们报告了5例确诊囊性纤维化(CF)的婴儿,其结果是与供体(4例)或自己的配子(1例)进行体外受精(IVF)。所有受影响的家庭均无CF家族史。儿童的临床表现从胎粪肠梗阻到反复呼吸道感染和严重的鼻息肉病。诊断年龄也从出生到9岁不等。由于其中一个病例是在一家非常著名的私人试管婴儿诊所发现的,该诊所改变了他们自己的方案,目前他们对每个捐赠者进行CF携带者检测。捐献人群中CF携带者的百分比与保加利亚一般人群中预测的百分比大致相同- 1/33。虽然PGD很昂贵,但目前对CF患者进行适当护理的费用要高得多。更经济的选择是对每个捐赠者进行CF携带者筛查。试管婴儿需要大量的体力和心理耐力。接受这种手术的夫妇也需要很大的希望。对可能的先天性疾病有更多的预先意识是必要的。我们提倡每个试管婴儿中心对捐赠者进行CF携带者检测或为其客户提供PGD。
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来源期刊
CiteScore
1.00
自引率
0.00%
发文量
0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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