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Advancing Obstetric Care: The Role of Targeted Next-Generation Sequencing in Pregnancies with Structurally Normal
Han-Ying Chen1,2, Yi-Ting Wang3, Jessica Kang1
1Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Journal of the Chinese Medical Association : JCMA
|January 27, 2026
Summary
A targeted fetal next-generation sequencing (NGS) panel identified critical findings in 5.16% of apparently healthy fetuses. This prenatal diagnostic tool offers valuable insights for parental decision-making.
Area of Science:
- Genetics
- Prenatal Diagnostics
- Next-Generation Sequencing
Background:
- Establishing a targeted fetal next-generation sequencing (NGS) panel.
- Evaluating its diagnostic yield in sonographically normal fetuses.
Purpose of the Study:
- Assess the diagnostic utility of a targeted fetal NGS panel.
- Identify genetic conditions in fetuses with normal ultrasound findings.
Main Methods:
- Retrospective analysis of 1,820 sonographically normal fetuses.
- Fetal NGS targeted panel testing performed between June 2021 and June 2023.
Main Results:
- 5.16% of fetuses had pathogenic conditions; 49.1% were identified with abnormal carrier statuses.
- Most frequent conditions: glucose-6-phosphate dehydrogenase (G6PD) deficiency (35 cases) and GJB2 gene variants (19 cases).
- Other findings included familial hypercholesterolemia, Noonan syndrome, and rare genetic disorders.
Conclusions:
- Fetal NGS targeted panel is effective for prenatal diagnostics in seemingly normal fetuses.
- Highlights the importance of careful variant selection and genetic counseling for clinical relevance.
- Supports informed decision-making for prospective parents regarding genetic screening.
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