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March 29, 2026Prenatal Diagnosis0 citations

Prenatal Screening for Fetal X‐Linked Ichthyosis: A Large Cohort Study Combining Non‐Invasive Prenatal Testing and Maternal Serum Unconjugated Estriol Analysis

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MHMiao HanMCMin ChenYDYunqiu Du

Key Points

  • This research aims to enhance the accuracy of prenatal screening for fetal X-linked ichthyosis by integrating non-invasive prenatal testing (NIPT) with maternal serum unconjugated estriol (uE3) analysis.
  • Analyzed a large cohort of pregnancies using NIPT for CNV detection.
  • Measured maternal serum uE3 levels during pregnancy.
  • Evaluated screening outcomes in the context of family history and ultrasound findings.
  • Combined NIPT and uE3 analysis significantly improved screening accuracy for fetal XLI.
  • The approach is particularly effective for cases with low maternal uE3 and a positive family history.
  • Identifying male fetuses with normal ultrasound findings adds to clinical actionability.

Abstract

Integrating NIPT-based maternal CNV detection with maternal serum uE3 quantification significantly improves the accuracy of prenatal XLI screening. This combined approach is most clinically actionable in a specific scenario: a male fetus presenting with normal ultrasound findings, extremely low maternal uE3, and a positive family history of isolated XLI without comorbidities.

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Cite This Study

Han et al. (2026) studied this question.

synapsesocial.com/papers/69c8c247de0f0f753b39c85ehttps://doi.org/10.1002/pd.70139
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