International experience in the primary prevention of cystic fibrosis (part one)

Author:

Kashirskaya N. Yu.1ORCID,Petrova N. V.2ORCID,Gembitskaya T. E.3ORCID,Ivashchenko T. E.4,Khavkin A. I.5ORCID,Nesteruk O. N.6,Ginter E. K.2,Kutsev S. I.2ORCID,Zinchenko R. A.7ORCID

Affiliation:

1. Research Centre for Medical Genetics; Moscow Regional Research and Clinical Institute (“MONIKI”)

2. Research Centre for Medical Genetics

3. I. P. Pavlov First Federal Saint - Petersburg State Medical University, Healthcare Ministry of Russia

4. D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology

5. Research Clinical Institute of Childhood of the Moscow Region

6. “Ostrova” Charitable Foundation

7. Research Centre for Medical Genetics; N. A. Semashko National Research Institute of Public Health

Abstract

Preconceptional genetic screening (genetic testing of individuals at the stages of family planning and birth of a healthy child) has an important place in the prevention of hereditary diseases. This review focuses on the preconceptional prevention of cystic fibrosis (CF), one of the most common hereditary diseases of the Caucasian race. The first part highlights the general principles of screening for hereditary diseases, including CF, the advantages and disadvantages of pan-ethnic screening for CF, and the economic rationale for the programme, using international studies and guidelines, as illustrated by international sources.

Publisher

LLC Global Media Technology

Subject

Gastroenterology,Hepatology

Reference69 articles.

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2. Cornel, M.C., Rigter, T., Jansen, M.E., et al. Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide. J Community Genet. 2021;12:257-265. doi: 10.1007/s12687-020-00488-y

3. Raffle A.E., Grey J. A.M. Screening: Evidence and Practice. Oxford University Press, Oxford. 2007. doi: 10.1093/acprof: oso/9780199214495.001.0001.

4. Wilson J.M., Jungner Y. G. Principles and practice of screening for disease. World Health Organization, Geneva. 1968. Available at https://apps.who.int/iris/handle/10665/37650. Accessed 01 May 2022.

5. Antonarakis S. E. Carrier screening for recessive disorders. Nat Rev Genet. 2019 Sep;20(9):549-561. doi: 10.1038/s41576-019-0134-2. PMID: 31142809.

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