Journal of perinatology : official journal of the California Perinatal Association · 2026
Efficacy of universal genome sequencing in infant extracorporeal membrane oxygenation.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Carr Nicholas R, Fulmer Makenzie L, Rumpel Jennifer, Makkar Abhishek, Mahmood Burhan, Keene Sarah, Rintoul Natalie, Taylor Wild K, Ashrafi Amir, Gogcu Semsa, Rau Carrie, Pattison David, Best Hunter, Boyden Steven E, Mao Rong, Brunelli Luca
Аннотация
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.
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.