Preconception Care and Genetic Screening: A Global Review and Strategic Perspectives for Implementation in Bulgaria

<b>Background:</b> Preconception care (PCC) is a key element of preventive reproductive health, aiming to optimise maternal and child outcomes by addressing biomedical, behavioural, psychosocial, and genetic risks before conception. International frameworks provide clear guidance, yet implementation in many low- and middle-income countries remains inconsistent. <b>Methods:</b> A structured narrative review was conducted across PubMed, Web of Science, Cochrane Library, and Google Scholar, focusing on literature published between 2010 and 2025. Eligible sources included empirical studies, clinical guidelines, policy documents, and high-quality grey literature from health authorities. Quality, relevance, and applicability were assessed, with particular emphasis on European and Bulgarian contexts. <b>Results:</b> Evidence from diverse settings demonstrates that PCC interventions-such as chronic disease management, vaccination, lifestyle optimisation, and expanded carrier screening (ECS)-can reduce adverse pregnancy outcomes and prevent severe genetic disorders. Effective international models integrate PCC into primary care, leverage digital health tools, and ensure equitable access through public funding. In Bulgaria, PCC remains underdeveloped: genetic screening is not part of routine care, there are no national guidelines or surveillance systems, and only ~4% of women initiate folic acid supplementation before pregnancy. NGOs and EU-funded digital initiatives provide partial outreach but cannot replace state-supported services. <b>Conclusions:</b> Bulgaria urgently requires a coordinated national PCC strategy, incorporating standardised guidelines, provider training, digital platforms, and phased ECS introduction. Strengthening PCC delivery can reduce preventable maternal and neonatal morbidity, advance reproductive justice, and enhance the long-term sustainability of public health systems. These findings support the development of a publicly funded, guideline-driven national PCC strategy with phased introduction of expanded carrier screening under NHIF to improve equity and long-term system sustainability.

Authors

Institutions

Publication Details

Journal
Children
Published
2025-11-14
DOI
https://doi.org/10.3390/children12111538
Primary Topic
Reproductive Health and Contraception
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Preconception Care and Genetic Screening: A Global Review and Strategic Perspectives for Implementation in Bulgaria

Elitsa Gyokova, Mark Micallef, Георги Искров, Eleonora Hristova-Atanasova et al.
Children
Reproductive Health and Contraception
article

Preconception Care and Genetic Screening: A Global Review and Strategic Perspectives for Implementation in Bulgaria

Elitsa Gyokova, Mark Micallef, Георги Искров, Eleonora Hristova-Atanasova, Julia Stivala
article en

Abstract

<b>Background:</b> Preconception care (PCC) is a key element of preventive reproductive health, aiming to optimise maternal and child outcomes by addressing biomedical, behavioural, psychosocial, and genetic risks before conception. International frameworks provide clear guidance, yet implementation in many low- and middle-income countries remains inconsistent. <b>Methods:</b> A structured narrative review was conducted across PubMed, Web of Science, Cochrane Library, and Google Scholar, focusing on literature published between 2010 and 2025. Eligible sources included empirical studies, clinical guidelines, policy documents, and high-quality grey literature from health authorities. Quality, relevance, and applicability were assessed, with particular emphasis on European and Bulgarian contexts. <b>Results:</b> Evidence from diverse settings demonstrates that PCC interventions-such as chronic disease management, vaccination, lifestyle optimisation, and expanded carrier screening (ECS)-can reduce adverse pregnancy outcomes and prevent severe genetic disorders. Effective international models integrate PCC into primary care, leverage digital health tools, and ensure equitable access through public funding. In Bulgaria, PCC remains underdeveloped: genetic screening is not part of routine care, there are no national guidelines or surveillance systems, and only ~4% of women initiate folic acid supplementation before pregnancy. NGOs and EU-funded digital initiatives provide partial outreach but cannot replace state-supported services. <b>Conclusions:</b> Bulgaria urgently requires a coordinated national PCC strategy, incorporating standardised guidelines, provider training, digital platforms, and phased ECS introduction. Strengthening PCC delivery can reduce preventable maternal and neonatal morbidity, advance reproductive justice, and enhance the long-term sustainability of public health systems. These findings support the development of a publicly funded, guideline-driven national PCC strategy with phased introduction of expanded carrier screening under NHIF to improve equity and long-term system sustainability.

ChildrenVol. 12(11)
University of Malta (MT), Medical University Plovdiv (BG), Medical University Pleven (BG)
Openalex Percentile: Top 55%
Reproductive Health and Contraception
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.