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[The Modern Medical Technologies in Orphan Diseases Prevention]

R F Shavaliev1, S Sh Iafarova2, S Ia Volgina3

  • 1The State Autonomous Health Care Institution "The Children Republican Clinical Hospital of the Ministry of Health Care of the Republic of Tatarstan", 420138, Kazan, Russia.

Problemy Sotsial'Noi Gigieny, Zdravookhraneniia I Istorii Meditsiny
|December 20, 2018
PubMed

Insights

This article details modern strategies for preventing rare diseases. It highlights preconception training, genetic counseling, reproductive technologies, prenatal diagnostics, fetal surgery, and neonatal screening as key preventive measures.

Area of Science:

  • Medical Genetics
  • Public Health
  • Reproductive Medicine

Background:

  • Rare diseases pose significant public health challenges.
  • Effective prevention strategies are crucial for improving outcomes.
  • Modern technologies offer new avenues for early detection and intervention.

Purpose of the Study:

  • To outline the organization of rare disease prevention using contemporary technologies.
  • To emphasize the importance of a multi-stage approach to prevention.
  • To discuss the integration of various medical interventions in preventive care.

Main Methods:

  • Review of current technologies and methodologies in rare disease prevention.
  • Analysis of the role of preconception training and medical genetic counseling.
  • Examination of auxiliary reproductive technologies, prenatal diagnostics, fetal surgery, and neonatal screening.

Main Results:

  • Preconception training and genetic counseling are foundational preventive steps.
  • Auxiliary reproductive technologies and prenatal diagnostics aid in early identification.
  • Fetal surgery and neonatal screening offer critical interventions for affected newborns.

Conclusions:

  • A comprehensive, technology-driven approach is essential for effective rare disease prevention.
  • Integrating various stages from preconception to neonatal care improves preventive outcomes.
  • Modern medical advancements significantly enhance the potential for rare disease prevention.

Keywords:
medical genetic counselingneonatal screeningorphan diseasespreconception trainingprenatal diagnosticpreventionrare diseases

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