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RESULTS OF THE CYSTIC FIBROSIS SCREENING PROGRAM DUE TO EXPANDED RESOLUTE GENE MUTATIONS IN WOMEN OF REPRODUCTIVE AGE
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Abstract
Objective: Determine the proportion of women carrying the CFTR recessive gene mutation that causes cystic fibrosis. Subjects and methods: A cross-sectional study through a survey of 338 women of reproductive age or in the first trimester of pregnancy examined at the Department of Obstetrics and Gynecology, University Medical Center–Branch 2 in Ho Chi Minh City from January 2021 to January 2023. Results: The proportion of women of reproductive age carrying CFTR gene mutations with the CFTR c.1210-11T>G variant accounts for 4.4%. Research results show that the proportion of woman carrying recessive genes that cause cystic fibrosis is not small. Conclusion: The screening program for gene mutations causing cystic fibrosis not only helps in the process of screening for early congenital abnormalities, but also helps couples to identify the risk of having children with this disease. In addition, carrier screening helps sick children access treatment sooner.
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Keywords
Gene mutation, Cystic fibrosis, Screening for carriers of recessive gene mutations, Cystic Fibrosis Transmembrane Conductance Regulator
References
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