Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study

This study aimed to assess the clinical significance of expanded carrier screening in the context of prenatal care by analyzing a substantial cohort. The research employed a comprehensive screening panel comprising 302 genes and utilized next-generation sequencing. The subjects were drawn from obstetric clinics, infertility centers, and medical facilities, and they received genetic counseling both before and after screening. The study encompassed 1,587 individuals, and there were total 653 couples. Among these couples, 9.49% exhibited pathogenic variants within the same genes, totaling 212 pathogenic genes. An overall positive screening rate of 73.91% was observed, with the gene encoding gap junction beta-2 (GJB2) being the most prevalent pathogenic variant at 19.85%. These findings underscore the potential impact of next-generation sequencing carrier screening on prenatal obstetric care, warranting consideration for pan-ethnic genetic screening and counseling among couples of reproductive age. (By Chen Han-Ying, )


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