International experience in the primary prevention of cystic fibrosis (part two)-Reference-Cited by-同舟云学术

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

Published:2023-01-18 Issue:8 Volume: Page:160-170
ISSN:1682-8658
Container-title:Experimental and Clinical Gastroenterology
language:
Short-container-title:jour

Author:

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

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

This text is a continuation of a review of international studies and guidelines/recommendations for primary prevention of cystic fibrosis (CF). This section reviews the selection of pathogenic variants for different CF mutation carrier screening programmes to form panels, taking into account the geographical and ethnic characteristics of the couples being screened, describes the monitoring of couples at intermediate risk of carrier, presents the relationship between carrier screening and neonatal screening, highlights the importance of timely information, including medical and genetic counselling for stakeholders, taking into account the psychosocial status. Separately, we present studies that have found a reduction in the rate of CF births in France, Italy and Israel after the introduction of CF carrier screening.

Publisher

LLC Global Media Technology

Subject

Gastroenterology,Hepatology

Reference47 articles.

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