Translational Health Sciences, University of Bristol, Bristol, UK
Women and Children's Health, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
BMJ Open. 2022 Dec 9;12(12):e066480. doi: 10.1136/bmjopen-2022-066480.
Congenital anomalies affect over 2% of pregnancies. Surgical advances have reduced mortality and improved survival for patients with congenital anomalies potentially requiring surgical (CAPRS) intervention. However, our understanding of aetiology, diagnostic methods, optimal management, outcomes and prognostication is limited. Existing birth cohorts have low numbers of individual heterogenous CAPRS. The Surgical Paediatric congEnital Anomalies Registry with Long term follow-up (Surgical-PEARL) study aims to establish a multicentre prospective fetal, child and biological parent cohort of CAPRS.
From 2022 to 2027, Surgical-PEARL aims to recruit 2500 patients with CAPRS alongside their biological mothers and fathers from up to 15 UK centres. Recruitment will be antenatal or postnatal dependent on diagnosis timing and presentation to a recruitment site. Routine clinical data including antenatal scans and records, neonatal intensive care unit (NICU) records, diagnostic and surgical data and hospital episode statistics will be collected. A detailed biobank of samples will include: parents' blood and urine samples; amniotic fluid if available; children's blood and urine samples on admission to NICU, perioperatively or if the child has care withdrawn or is transferred for extracorporeal membrane oxygenation; stool samples; and surplus surgical tissue. Parents will complete questionnaires including sociodemographic and health data. Follow-up outcome and questionnaire data will be collected for 5 years. Once established we will explore the potential of comparing findings in Surgical-PEARL to general population cohorts born in the same years and centres.
Ethical and health research authority approvals have been granted (IRAS Project ID: 302251; REC reference number 22/SS/0004). Surgical-PEARL is adopted onto the National Institute for Health Research Clinical Research Network portfolio. Findings will be disseminated widely through peer-reviewed publication, conference presentations and through patient organisations and newsletters.
ISRCTN12557586.
先天性异常影响超过 2%的妊娠。外科手术的进步降低了先天性异常患者（需要外科干预的先天性异常患者，CAPRS）的死亡率并提高了生存率。然而，我们对病因、诊断方法、最佳管理、结果和预后的理解是有限的。现有的出生队列中 CAPRS 的个体数量较少且异质性较大。Surgical Paediatric congEnital Anomalies Registry with Long term follow-up（外科儿科先天性异常注册研究，Surgical-PEARL）旨在建立一个多中心前瞻性胎儿、儿童和生物父母队列，纳入 CAPRS 患者。
在 2022 年至 2027 年期间，Surgical-PEARL 将从多达 15 个英国中心招募 2500 名 CAPRS 患者及其生物母亲和父亲。招募将根据诊断时间和到招募地点就诊的情况而定，是在产前还是产后进行。将收集包括产前扫描和记录、新生儿重症监护病房（NICU）记录、诊断和手术数据以及住院记录在内的常规临床数据。一个详细的生物样本库将包括：父母的血液和尿液样本；如果有羊水的话，还有羊水样本；新生儿入住 NICU 时、围手术期时或如果孩子的护理被撤回或被转移到体外膜氧合时的血液和尿液样本；粪便样本；以及多余的手术组织。父母将完成包括社会人口统计学和健康数据在内的问卷。将在 5 年内收集随访结果和问卷数据。一旦建立，我们将探索将 Surgical-PEARL 的发现与同年和同中心出生的一般人群队列进行比较的潜力。
已获得伦理和健康研究管理局的批准（IRAS 项目 ID：302251；REC 参考号 22/SS/0004）。Surgical-PEARL 被纳入国家卫生研究院临床研究网络组合。研究结果将通过同行评审出版物、会议演讲以及通过患者组织和通讯广泛传播。
ISRCTN80142627。
