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Objective <p>To evaluate the feasibility and diagnostic yield of universal genome sequencing (GS) in infants receiving extracorporeal membrane oxygenation (ECMO).</p> Study design <p>Prospective multicenter study across eight Children’s Hospital Neonatal Consortium sites (October 2021–August 2023). Infants initiated on ECMO were enrolled for GS regardless of suspected genetic disease. Demographics, ECMO indications, and results from standard-care testing and study-based GS were analyzed.</p> Results <p>Twenty-five infants were enrolled. Primary ECMO indications included congenital diaphragmatic hernia (28%), meconium aspiration syndrome (24%), and primary respiratory failure (20%). GS identified pathogenic or likely pathogenic variants in 6/25 infants (24%), including three cytogenetic-confirmed diagnoses and three molecular diagnoses identified only by GS. Variants of uncertain significance were identified in 44% of infants, while 32% had negative results.</p> Conclusion <p>Universal GS during ECMO is feasible and yields a relatively high rate of clinically relevant diagnoses, supporting further assessment of the integration of genomic testing into ECMO care pathways.</p>

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Efficacy of universal genome sequencing in infant extracorporeal membrane oxygenation

  • 期刊论文

  • 发表日期：

    2026年5月28日

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  • Nicholas R. Carr,
  • Makenzie L. Fulmer,
  • Jennifer Rumpel,
  • Abhishek Makkar,
  • Burhan Mahmood,
  • Sarah Keene,
  • Natalie Rintoul,
  • K. Taylor Wild,
  • Amir Ashrafi,
  • Semsa Gogcu,
  • Carrie Rau,
  • David Pattison,
  • Hunter Best,
  • Steven E. Boyden,
  • Rong Mao,
  • Luca Brunelli

摘要

Objective

To evaluate the feasibility and diagnostic yield of universal genome sequencing (GS) in infants receiving extracorporeal membrane oxygenation (ECMO).

Study design

Prospective multicenter study across eight Children’s Hospital Neonatal Consortium sites (October 2021–August 2023). Infants initiated on ECMO were enrolled for GS regardless of suspected genetic disease. Demographics, ECMO indications, and results from standard-care testing and study-based GS were analyzed.

Results

Twenty-five infants were enrolled. Primary ECMO indications included congenital diaphragmatic hernia (28%), meconium aspiration syndrome (24%), and primary respiratory failure (20%). GS identified pathogenic or likely pathogenic variants in 6/25 infants (24%), including three cytogenetic-confirmed diagnoses and three molecular diagnoses identified only by GS. Variants of uncertain significance were identified in 44% of infants, while 32% had negative results.

Conclusion

Universal GS during ECMO is feasible and yields a relatively high rate of clinically relevant diagnoses, supporting further assessment of the integration of genomic testing into ECMO care pathways.