Targeted linked-read sequencing for direct haplotype phasing of parental GJB2/SLC26A4 alleles: A universal and dependable noninvasive prenatal diagnosis method applied to autosomal recessive nonsyndromic hearing loss in at-risk families

Noninvasive prenatal diagnosis (NIPD) for autosomal recessive nonsyndromic hearing loss (ARNSHL) has been rarely reported until recent years. However, the previous method could not be performed on challenging genome loci (e.g. CNVs, deletions, inversions, or gene recombinants) or on families without proband genotype. Here, this study assesses the performance of relative haplotype dosage analysis (RHDO)-based NIPD for identifying fetal genotyping in pregnancies at risk of ARNSHL. Fifty couples carrying pathogenic variants associated with ARNSHL in either GJB2 or SLC26A4 were recruited.

Source: Journal of Molecular Diagnostics - April 23, 2024 Category: Pathology Authors: Bo Gao, Yi Jiang, Mingyu Han, Xiaowen Ji, Dejun Zhang, Lihua Wu, Xue Gao, Shasha Huang, Chaoyue Zhao, Yu Su, Suyan Yang, Xin Zhang, Na Liu, Lu Han, Lihai Wang, Lina Ren, Jinyuan Yang, Jian Wu, Yongyi Yuan, Pu Dai Tags: Regular Article Source Type: research