Maternal xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of x-linked ichthyosis

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  • who: . et al. from the University of Nebraska Medical Center, United States have published the paper: Maternal Xp22.31 copy-number variations detected in non-invasive prenatal screening effectively guide the prenatal diagnosis of X-linked ichthyosis, in the Journal: (JOURNAL)
  • what: The authors analyzed 19 cases of maternal CNVs involving the STS gene detected by NIPS and explored the clinical Non-invasive prenatal screening (NIPS) based on analysis of cell-free DNA (cfDNA) in maternal peripheral blood plasma was developed to detect fetal aneuploidies, mainly targeting trisomies 21, 13, and 18. Ethics statement and . . .

     

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