Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis

• DOI: 10.3389/fgene.2022.934952
• Publication Date: 2022-08-31T06:46:41Z
• Authors: Xinxin Tang; Zhiwei Wang; Shuting Yang; Min Chen; Yue Zhang; Fang Zhang; Juan Tan; Ting Yin; Leilei Wang
• Keywords: Steroid sulfatase

Background and aims: X-linked ichthyosis (XLI) is a common recessive genetic disease caused by the deletion of steroid sulfatase (STS) in Xp22.31. Maternal copy-number deletions Xp22.31 (covering STS) can be considered an incidental benefit genome-wide cell-free DNA profiling. Here, we explored accuracy clinical value maternal during non-invasive prenatal screening (NIPS). Materials methods: We evaluated 13,156 pregnant women who completed NIPS. The revealed NIPS were confirmed with white blood cells chromosome microarray analysis (CMA) or variation sequencing (CNV-seq). Suspected positive male fetuses informed provided counseling. Results: Nineteen covering STS detected NIPS, which all confirmed, ranging size from 0.61 to 1.77 Mb. Among them, eleven accepted diagnoses, finally nine cases XLI diagnosed. males had differing degrees skin abnormalities, some members ten families symptoms associated XLI. Conclusion: has potential detect clinically significant X chromosomal CNVs causing XLI, guide diagnosis reflect family history, so as enhance pregnancy management well children members' health management.