NIPT In Russia: Clinicians’ Awareness And Attitudes Towards Its Capabilities, Limitations And Counseling Practices
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Authors
Ivanova, Nadia
Issue Date
2025-05-01
Type
thesis_open
Language
Keywords
NIPT , Genetic Counseling , Russia , Patient Education , Access Barriers , Provider Knowledge , Medical Genetics
Obstetrics and Gynecology
Alternative Title
Human Genetics Theses
Abstract
Non-Invasive Prenatal Testing (NIPT) has revolutionized prenatal screening by providing a highly accurate, non-invasive method for detecting common chromosomal aneuploidies. Despite its widespread adoption, the integration of NIPT into routine clinical practice varies across healthcare systems, with differences in provider knowledge, counseling practices, and legal regulations. This study examines the knowledge, attitudes, and practices of geneticists in Russia regarding NIPT, with a focus on counseling approaches, perceived advantages and limitations, and support for expanded screening indications. A survey was conducted among 52 geneticists across 13 regions of Russia. The findings indicate strong support for NIPT in detecting trisomies 13, 18, and 21, with slightly lower but substantial acceptance of its use for sex chromosome aneuploidies (SCAs), rare autosomal trisomies, and microdeletions. Geneticists demonstrated relatively high knowledge across various conditions while reporting lower confidence in explaining complex findings, particularly for SCAs and microdeletions. The study highlights cost as the most significant barrier to NIPT, affecting both private and state-funded clinics. Geneticists also stressed the need for clear national guidelines and legal regulations to ensure consistent access and standardized counseling. These findings underscore the importance of improving professional training, expanding public awareness, and establishing regulatory frameworks to support the effective implementation of NIPT in Russia. Future research should explore perspectives from obstetricians and patients to provide a more comprehensive understanding of NIPT integration in prenatal care.
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