Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease

摘要

Purpose: This article demonstrates a prominent noninvasive prenatal approach to assist the clinical diagnosis of a single-gene disorder disease, maple syrup urine disease, using targeted sequencing knowledge from the affected family. <br>Methods: The method reported here combines novel mutant discovery in known genes by targeted massively parallel sequencing With noninvasive prenatal testing. <br>Results: By applying this new strategy, we successfully revealed, novel mutations in the gene BCKDHA (Ex2_4dup and c.392A>G) in this Chinese family and developed a prenatal haplotype-assisted approach to noninvasively detect the genotype of the fetus (transmitted from both parents). <br>Conclusion: This is the first report of integration of targeted sequencing and noninvasive prenatal testing into clinical practice. Our study has demonstrated that this massively parallel sequencing-based strategy can potentially be used for single-gene disorder diagnosis in the future.

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