The experience of the Sverdlovsk region in the implementation of preconception screening for couples planning IVF pregnancy

Introduction. The demographic crisis in Russia has significantly exacerbated the issue of infertile marriages and highlighted the growing use of assisted reproductive technologies (ART). However, their application cannot automatically guarantee the birth of healthy children.
Objective. To screen for heterozygous carriers of severe hereditary pathologies among infertile couples.
Methods. Testing was conducted on 330 married couples for 51 monogenic diseases using next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA).
Results. A total of 301 heterozygous carriers were identified. The highest carrier rates were observed for congenital hearing loss (66 heterozygous carriers), biotinidase deficiency (57 carriers), alpha-1-antitrypsin deficiency (28), cystic fibrosis (25), and limb-girdle muscular dystrophy (21). In four couples, both parents were carriers of the same pathogenic gene variant; all received genetic counseling on currently available options to minimize the risk of having an affected child.
Conclusions. The results indicate a high prevalence of genetic pathology carriers among these couples, justifying further systematic screening for people by reproductive age.

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