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

INTRODUCTION

Cystic fibrosis (CF) is a rare, progressive, genetic, multi-organ disease with a chronic clinical course and commonly premature death. The disease is inherited in an autosomal recessive manner through mutations in the cystic fibrosis transmembrane regulator gene (CFTR) [1, 2]. The gene encodes a protein of the same name that serves as an ion chloride channel. Even mildly impaired function of the CFTR protein can affect the body’s organs. The vas deferens appears to be one of the most vulnerable structures in patients with CF (pwCF) – leading to very high male infertility as a consequence [3]. In vitro fertilization (IVF) and all assisted reproduction techniques enabled pwCF to become parents. Although, success rates for IVF are around 20 to 40%, this may be the only option for most CF men and many CF women. Worldwide, it is routine to test one’s partner, whether he/she is a CFTR mutation carrier, and if the result is positive, pre-implantation genetic diagnosis (PGD) is offered. Some pwCF even choose to use donor gametes in hope of not passing the CFTR mutation to their child. However due to the high cost, PGD is not commonly performed when donor gametes are used, provided the donors are healthy [4]. On the other hand, people not affected by CF may also have reproductive problems and the need for IVF. In such cases, PGD is often not offered and there are numerous possible consequences if the child is born affected. Undergoing an IVF-treatment is an expensive (physical, emotional, and financial) burden for the prospective parents [5]. The long and hard road, in many cases with an uncertain outcome, could be sometimes endured purely on the hope for a healthy child. However, one of the unforeseen risks is that the longed-for child suffers from a fatal disease.

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