March 29, 2024

Prevalence of common autosomal recessive mutation carriers in women in Southern Vietnam following the application of expanded carrier screening

Xuan-Hong To-Mai, Huu-Trung Nguyen, Thanh-Truc Nguyen-Thi, Thuy-Vy Nguyen, My-Nuong Nguyen-Thi, Ke-Quan Thai, Minh-Thi Lai & Tuan-Anh Nguyen

Carrier screening programs are crucial for reproductive healthcare because autosomal recessive (AR) carriers often remain unaware until their child is diagnosed. These programs promote healthy offspring and early diagnosis. Strategies like expanded carrier screening (ECS) and target carrier screening vary in detecting conditions, with ECS being broader but costly. As seen in countries like the UK, China, Australia, and the Netherlands, tailoring screening panels based on ethnicity and prevalent disorders is key. Vietnam, despite a high prevalence of AR disorders, lacks an official program, highlighting the need for comprehensive panels to enhance reproductive healthcare.

 

This study recruited 338 women. Pre-test consulting and blood samples were obtained for ECS of 540 genes utilizing next-generation sequencing. The ECS panel design for 540 recessive genes was informed by inputs from Vietnamese clinical professionals as well as ACMG-suggested genes, and interpretation of variants was carried out by utilizing the Geneyx Analysis platform.

 

There are a number of Ready to use CLIA/CAP certified tests available using Geneyx. Read on for more details.

 

Figure 1

figure 1

The mean age was 27 years, with 25 pregnant participants. The carrier prevalence for at least one recessive disease was 63.6%. Notably, one pregnant woman carried heterozygous causative variants in 2 recessive genes, receiving specialized prenatal care. Partners of female carriers were invited for ECS, yet only one male participated and tested negative. Carriers most frequently had variants in GJB2, HBB, CFTR, or G6PD gene, emphasizing the significance of ECS in assessing genetic risks and guiding healthcare decisions.

 

In conclusion, the study shared findings from a comprehensive study on 338 Vietnamese women undergoing ECS for AR and X-linked disorders, analyzing 540 genes based on expert recommendations with Geneyx Analysis. The authors identified key genes contributing to common disorders in Vietnam, emphasizing the need for a tailored ECS panel. Specific insights into prevalent conditions like GJB2-associated hearing loss, genetic anemia, cystic fibrosis, and metabolism disorders were discussed, urging the inclusion of genes associated with these disorders in a Vietnamese-specific ECS panel to enhance reproductive healthcare quality and genetic counseling efficacy in Vietnam.

 

Figure 2

From: Prevalence of common autosomal recessive mutation carriers in women in the Southern Vietnam following the application of expanded carrier screening

 

figure 2

Carrier frequencies of recessive disorders, comprising pathogenic (P) and likely pathogenic (LP) variants, across 540 genes were analyzed in a cohort of 338 Vietnamese women.

 

Additional Carrier Screening Resources:

Empowering Families through Carrier Screening: A Guide to Genetic Testing for Inherited Diseases

Geneyx: Our comprehensive portfolio of gene panels

What types of genetic variants can Geneyx Analysis detect?

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