Clinical utility of rapid whole genome sequencing in neonatal patients receiving extracorporeal membrane oxygenation (ECMO).

IF 2.4 3区医学 Q2 OBSTETRICS & GYNECOLOGY

Journal of Perinatology Pub Date : 2024-11-27 DOI:10.1038/s41372-024-02181-1

Milan D Amin, Kristen Wigby, Denise Suttner, Anna-Kaisa Niemi, Lucia Guidugli, Jeanne Carroll

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引用次数: 0

Abstract

Objective: The objective of this study is to describe the impact of rapid and ultra-rapid whole genome sequencing (rWGS/urWGS) on the care of neonatal intensive care (NICU) patients who require extracorporeal membrane oxygenation (ECMO).

Study design: This is a retrospective cohort study at a single-center NICU in a tertiary children's hospital. The study population includes NICU patients treated with ECMO from May 2017 to September 2023. Patients were evaluated for whether whole genome was completed, speed of testing (rapid vs. ultra-rapid), diagnostic rate, and clinical utility.

Result: Twenty-six (72%) patients had rWGS/urWGS. A diagnosis associated with the patient's phenotype was made in 12 patients (46%). A change in clinical management was made due to rWGS/urWGS in 10 patients (38%) including avoidance of imaging studies, decisions regarding goals of care, and screening studies.

Conclusion: This study demonstrates a high diagnostic rate and clinical utility of rWGS/urWGS for NICU patients requiring ECMO.

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对接受体外膜氧合（ECMO）的新生儿患者进行快速全基因组测序的临床实用性。

研究目的本研究旨在描述快速和超快速全基因组测序（rWGS/urWGS）对需要体外膜肺氧合（ECMO）的新生儿重症监护（NICU）患者护理的影响：这是一项在一家三级儿童医院新生儿重症监护室进行的回顾性队列研究。研究对象包括 2017 年 5 月至 2023 年 9 月接受 ECMO 治疗的 NICU 患者。对患者是否完成全基因组、检测速度（快速与超快速）、诊断率和临床实用性进行了评估：26名（72%）患者进行了rWGS/urWGS检测。结果：26 名患者（72%）接受了 rWGS/urWGS，12 名患者（46%）做出了与患者表型相关的诊断。10名患者（38%）因rWGS/urWGS而改变了临床治疗方案，包括避免影像学检查、决定治疗目标和筛查研究：这项研究表明，rWGS/urWGS 对需要进行 ECMO 的新生儿重症监护室患者具有很高的诊断率和临床实用性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Perinatology 医学-妇产科学

CiteScore

5.40

自引率

6.90%

发文量

284

审稿时长

3-8 weeks

期刊介绍： The Journal of Perinatology provides members of the perinatal/neonatal healthcare team with original information pertinent to improving maternal/fetal and neonatal care. We publish peer-reviewed clinical research articles, state-of-the art reviews, comments, quality improvement reports, and letters to the editor. Articles published in the Journal of Perinatology embrace the full scope of the specialty, including clinical, professional, political, administrative and educational aspects. The Journal also explores legal and ethical issues, neonatal technology and product development. The Journal’s audience includes all those that participate in perinatal/neonatal care, including, but not limited to neonatologists, perinatologists, perinatal epidemiologists, pediatricians and pediatric subspecialists, surgeons, neonatal and perinatal nurses, respiratory therapists, pharmacists, social workers, dieticians, speech and hearing experts, other allied health professionals, as well as subspecialists who participate in patient care including radiologists, laboratory medicine and pathologists.