Prenatal Screening for Fetal X‐Linked Ichthyosis: A Large Cohort Study Combining Non‐Invasive Prenatal Testing and Maternal Serum Unconjugated Estriol Analysis
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.
Authors
- Miao Han (ORCID: https://orcid.org/0009-0000-4811-9631)
- Xinxin Tang (ORCID: https://orcid.org/0000-0002-9052-8970)
- Yunqiu Du
- Yuhua Sun
- Yue Zhang (ORCID: https://orcid.org/0000-0001-6984-3047)
- Min Chen (ORCID: https://orcid.org/0000-0002-6906-872X)
- Liang Wang (ORCID: https://orcid.org/0000-0002-5826-1866)
- Zhiwei Wang (ORCID: https://orcid.org/0000-0002-5863-9785)
- Ting Yin
- Fang Zhang
Institutions
- Lianyungang Maternal and Children’s Hospital (CN)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2026-03-26
- DOI
- https://doi.org/10.1002/pd.70139
- Primary Topic
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00