Cohort study demonstrates improved screening accuracy for fetal XLI, indicating a significant clinical approach.
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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Han et al. (2026) studied this question.
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