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
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...
April 23, 2024: Journal of Molecular Diagnostics: JMD