Balkan Journal of Medical Genetics

PREVENTABLE HAZARDS FROM IN VITRO FERTILIZATION – A CASE SERIES OF CF PATIENTS FROM BULGARIA
Yaneva N, Baycheva M, Kostova P, Papochieva V, Mileva S, Miteva D, Savov A, Petrova G
*Corresponding Author: Guergana Petrova, MD, PhD, University Hospital Alexandrovska, Pediatric clinic, Medical University of Sofia; Sofia, Bulgaria, 1 G. Sofiiski bld tel: +3598877570386, e-mail: gal_ps@yahoo.co.uk
page: 83
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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.

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