PulseExploreJournal ClubDebatesTrendingResearchersJournals
Instagram
HomeExploreJournal ClubTrending
Synapse
⌘+K
Synapse
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

View Full Paper
MHMiao HanLianyungang Maternal and Children’s HospitalMCMin ChenSoochow UniversityYDYunqiu DuLianyungang Maternal and Children’s Hospital

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.

Ask AI
Helpful
Bookmark
Share
View Full Paper

Cite This Study

Han et al. (2026) studied this question.

synapsesocial.com/papers/69c8c247de0f0f753b39c85ehttps://doi.org/10.1002/pd.70139
Ask AI
Helpful
Bookmark
Share
View Full Paper