Liu, Y., Wang, L., Lanlai, Y., Yang, Y., Li, Y., Chen, Z., ... & Sun, Y. Hereditary deafness carrier screening in 9,993 Chinese individuals. Frontiers in Genetics, 14, 1327258.
Liu, Y., Wang, L., Lanlai, Y., Yang, Y., Li, Y., Chen, Z., ... & Sun, Y. Hereditary deafness carrier screening in 9,993 Chinese individuals. Frontiers in Genetics, 14, 1327258.
Liu, Y., Wang, L., Lanlai, Y., Yang, Y., Li, Y., Chen, Z., ... & Sun, Y. Hereditary deafness carrier screening in 9,993 Chinese individuals. Frontiers in Genetics, 14, 1327258.
Liu, Y., Wang, L., Lanlai, Y., Yang, Y., Li, Y., Chen, Z., ... & Sun, Y. Hereditary deafness carrier screening in 9,993 Chinese individuals. Frontiers in Genetics, 14, 1327258.
Abstract
Preconception or prenatal carrier screening for hereditary deafness is an effective early intervention strategy to reduce the incidence of newborn deafness, but current research is limited. This study aimed to investigate the carrier frequencies of common deafness genes in the Chinese population and to follow up on pregnancy outcomes in high-risk couples. Carrier screening for common deafness genes in the Chinese population, including the GJB2 and SLC26A4 genes, was performed using next-generation sequencing technology. Of the 9,993 subjects screened, the carrier rate was 2.86% for the GJB2 gene and 2.63% for the SLC26A4 gene. Of the six high-risk couples, four made alternative reproductive decisions (three with prenatal diagnosis and one with preimplantation genetic testing), with consequent successful termination of the birth of two affected fetuses. The frequencies of preconception or prenatal carrier screening for the deafness genes GJB2 and SLC26A4 in 9,993 subjects from China in this study were 2.86% and 2.63%, respectively. In addition, four out of six high-risk couples made alternative reproductive decisions, followed by the successful prevention of the birth of two affected fetuses. These findings confirmed the clinical utility of preconception or prenatal carrier screening for hereditary deafness.
Keywords
hereditary deafness; carrier screening; reproductive decision making
Subject
Medicine and Pharmacology, Reproductive Medicine
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
