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Objectives <p>CHARGE syndrome (CS) and trisomy 13 (T13) and 18 (T18) are heterogeneous diseases with overlapping morphological features. Historically, T13 and T18 were deemed incompatible with life. Recently, numerous studies have reported prolonged survival for some affected patients. Consequently, the question of individual counseling has arisen. This study aimed to analyze the fetal MRI-based phenome of CS, T13, and T18.</p> Materials and methods <p>Fetal MRI-based phenotyping was conducted, and a morphological disease severity score that assessed 16 anatomical regions was proposed. Furthermore, a co-occurrence analysis was generated to visualize the overlapping and differentiating features of CS, T13, and T18.</p> Results <p>Forty-eight fetuses who underwent fifty-seven fetal MRI scans were analyzed. Disease severity scores ranged from 1-25 (mean 12.7) and highlighted heterogeneous disease manifestations among investigated patients. In the co-occurrence analysis the T13 network showed the highest complexity.</p> Conclusion <p>Considering recent trends towards a change in management from mostly palliative to therapeutic care for patients with CS, T13, and T18, care providers face challenging decisions regarding management. The proposed preliminary MRI-based phenotyping score and the provided phenome visualization aim to aid physicians in counseling and choosing appropriate management plans. Future studies will be necessary to correlate prenatal imaging findings to outcome data in larger patient collectives.</p> Key Points <p><Emphasis Type="BoldItalic">Question</Emphasis><i> What are the phenotypical presentations of CHARGE syndrome, trisomy 13, and trisomy 18 in fetal MRI and can prenatal MRI findings help clinicians in predicting postnatal outcomes?</i></p> <p><Emphasis Type="BoldItalic">Findings</Emphasis><i> MRI phenomes were visualized in co-occurrence networks, and a preliminary disease severity score was proposed, based on available outcome data, to aid in risk stratification</i>.</p> <p><Emphasis Type="BoldItalic">Clinical relevance</Emphasis><i> Recent trends in management, a shift from mostly palliative to therapeutic care for affected patients, have challenged clinicians. The provided phenome visualization of these heterogeneous diseases and the proposed disease severity score may aid physicians in counseling and selecting appropriate pregnancy management</i>.</p> Graphical Abstract <p></p>

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Phenotyping trisomies 13 and 18 and CHARGE syndrome in fetal MRI—a proposed phenome-based, morphological disease severity score, and network medicine analysis

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月29日

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  • Marlene Stuempflen,
  • Michael Weber,
  • Ursula Schwarz-Nemec,
  • Anke Scharrer,
  • Hui Shi,
  • Victor U. Schmidbauer,
  • Patric Kienast,
  • Katharina Goeral,
  • Guelen Yerlikaya-Schatten,
  • Gregor Kasprian,
  • Daniela Prayer

摘要

Objectives

CHARGE syndrome (CS) and trisomy 13 (T13) and 18 (T18) are heterogeneous diseases with overlapping morphological features. Historically, T13 and T18 were deemed incompatible with life. Recently, numerous studies have reported prolonged survival for some affected patients. Consequently, the question of individual counseling has arisen. This study aimed to analyze the fetal MRI-based phenome of CS, T13, and T18.

Materials and methods

Fetal MRI-based phenotyping was conducted, and a morphological disease severity score that assessed 16 anatomical regions was proposed. Furthermore, a co-occurrence analysis was generated to visualize the overlapping and differentiating features of CS, T13, and T18.

Results

Forty-eight fetuses who underwent fifty-seven fetal MRI scans were analyzed. Disease severity scores ranged from 1-25 (mean 12.7) and highlighted heterogeneous disease manifestations among investigated patients. In the co-occurrence analysis the T13 network showed the highest complexity.

Conclusion

Considering recent trends towards a change in management from mostly palliative to therapeutic care for patients with CS, T13, and T18, care providers face challenging decisions regarding management. The proposed preliminary MRI-based phenotyping score and the provided phenome visualization aim to aid physicians in counseling and choosing appropriate management plans. Future studies will be necessary to correlate prenatal imaging findings to outcome data in larger patient collectives.

Key Points

Question What are the phenotypical presentations of CHARGE syndrome, trisomy 13, and trisomy 18 in fetal MRI and can prenatal MRI findings help clinicians in predicting postnatal outcomes?

Findings MRI phenomes were visualized in co-occurrence networks, and a preliminary disease severity score was proposed, based on available outcome data, to aid in risk stratification.

Clinical relevance Recent trends in management, a shift from mostly palliative to therapeutic care for affected patients, have challenged clinicians. The provided phenome visualization of these heterogeneous diseases and the proposed disease severity score may aid physicians in counseling and selecting appropriate pregnancy management.

Graphical Abstract