Abstract：
The aim of this study was to describe the incidence of Congenital Diaphragmatic Hernia, CDH, associated with known or clinically suspected syndromes, and the postnatal outcomes from a large database for CDH.
Data from the multicenter, multinational database on infants with CDH (Congenital Diaphragmatic Hernia Study Group Registry) born from 1996 to 2020 were analyzed. Patients with known or suspected syndromes were grouped and outcome data were analyzed and compared to those without syndromic features.
A total of 12,553 patients were entered in the registry during the study period, and 421 had reported known syndromes, representing 3.4% of all CDH cases in the registry. A total of 50 different associated syndromes were reported. In addition to those with clinically suspected genetic conditions, a total rate of genetic syndromes with CDH was 8.2%. The overall survival to discharge for syndromic CDH was 34% and for non-syndromic CDH was 76.7%. The most common were syndromes Fryns syndrome (19.7% of all syndromes, 17% survival), trisomy 18 or Edward syndrome (17.5%, 9% survival), trisomy 21 or Down syndrome (9%, 47% survival), trisomy 13 or Patau syndrome (6.7%, 14% survival), Cornelia de Lange syndrome (6.4% of all syndromes, 22% survival) and Pallister-Killian syndrome (5.5% of all syndromes, 39.1% survival). In addition, 379 cases had reported chromosomal anomalies and 233 cases had clinically suspected syndromes, based on two more dysmorphic features or malformations in addition to CDH, but without molecular diagnosis. The syndromic CDH group had lower birth weight and gestational age at birth and increased incidence of bilateral CDH (2.9%) and rates of non-repair (53%). The length of hospital stay was longer, and larger number of patients needed O2 at 30 days. Extracorporeal life support was used only in 15% of the cases. Those who underwent surgical repair had survival to discharge rates of 73%.
Syndromic CDH is rare and only 3.4% of the reported cases of CDH have a known syndrome or association, but, if including patients with two dysmorphic features malformations, in addition to CDH, altogether as many as 8.2% have a diagnosed or suspected genetic condition. These children have with lower survival rates. Given higher rates of non-repair and decreased extracorporeal life support use, along with a high early mortality, decision-making regarding goals of care clearly influences outcomes. Survival varies depending on the genetic cause. Early genetic diagnosis is important and may influence the decision-making.
Data from the multicenter, multinational database on infants with CDH (Congenital Diaphragmatic Hernia Study Group Registry) born from 1996 to 2020 were analyzed. Patients with known or suspected syndromes were grouped and outcome data were analyzed and compared to those without syndromic features.
A total of 12,553 patients were entered in the registry during the study period, and 421 had reported known syndromes, representing 3.4% of all CDH cases in the registry. A total of 50 different associated syndromes were reported. In addition to those with clinically suspected genetic conditions, a total rate of genetic syndromes with CDH was 8.2%. The overall survival to discharge for syndromic CDH was 34% and for non-syndromic CDH was 76.7%. The most common were syndromes Fryns syndrome (19.7% of all syndromes, 17% survival), trisomy 18 or Edward syndrome (17.5%, 9% survival), trisomy 21 or Down syndrome (9%, 47% survival), trisomy 13 or Patau syndrome (6.7%, 14% survival), Cornelia de Lange syndrome (6.4% of all syndromes, 22% survival) and Pallister-Killian syndrome (5.5% of all syndromes, 39.1% survival). In addition, 379 cases had reported chromosomal anomalies and 233 cases had clinically suspected syndromes, based on two more dysmorphic features or malformations in addition to CDH, but without molecular diagnosis. The syndromic CDH group had lower birth weight and gestational age at birth and increased incidence of bilateral CDH (2.9%) and rates of non-repair (53%). The length of hospital stay was longer, and larger number of patients needed O2 at 30 days. Extracorporeal life support was used only in 15% of the cases. Those who underwent surgical repair had survival to discharge rates of 73%.
Syndromic CDH is rare and only 3.4% of the reported cases of CDH have a known syndrome or association, but, if including patients with two dysmorphic features malformations, in addition to CDH, altogether as many as 8.2% have a diagnosed or suspected genetic condition. These children have with lower survival rates. Given higher rates of non-repair and decreased extracorporeal life support use, along with a high early mortality, decision-making regarding goals of care clearly influences outcomes. Survival varies depending on the genetic cause. Early genetic diagnosis is important and may influence the decision-making.
摘要：
背景：这项研究的目的是描述先天性膈疝的发病率，CDH,与已知或临床怀疑的综合征有关，以及来自CDH大型数据库的产后结局。
方法：来自多中心的数据，分析了1996年至2020年出生的CDH（CDHSG注册）婴儿的跨国数据库。已知或疑似综合征的患者，进行分组,分析结局数据,并与无综合征特征的患者进行比较.
结果：在研究期间，共有12553名患者被纳入登记，421人报告了已知的综合征，占登记处所有CDH病例的3.4%。总共报告了50种不同的相关综合征。当添加那些临床怀疑遗传条件的人时，CDH遗传综合征的总发生率为8.2%，综合征性CDH的出院总生存率为34%，非综合征性CDH为76.7%。最常见的是：Fryns综合征（所有综合征的19.7％，17%生存率），18三体或爱德华综合征(17.5%，9%生存率)，21三体或唐氏综合征(9%，47%生存率），三体13或Patau综合征(6.7%，14%生存率），CorneliadeLange综合征(占所有综合征的6.4%，22％生存率）和Pallister-Killian综合征（所有综合征的5.5％，39.1%生存率)。此外,379例报告染色体异常，和233种临床怀疑的综合征，除了CDH之外，还有两个变形特征或畸形)，但没有分子诊断.综合征型CDH组出生体重和出生胎龄较低，双侧CDH的发生率（2.9％）和无修复率（53％）增加。住院时间更长，在30天时需要O2。仅在15％的病例中使用了体外生命支持（ECLS）。接受手术修复的患者的生存率为73％。
结论：综合征性CDH罕见，报告的CDH病例中只有3.4%有已知的综合征或关联，但是,如果包括两个畸形特征畸形的患者，除了CDH,总共有8.2%的人被诊断出或怀疑患有遗传病。这些孩子的存活率较低。鉴于较高的非修复率和减少的ECLS使用率，伴随着高的早期死亡率，关于护理目标的决策显然会影响结果。生存取决于遗传原因。早期基因诊断很重要，可能会影响决策。本文受版权保护。保留所有权利。
方法：来自多中心的数据，分析了1996年至2020年出生的CDH（CDHSG注册）婴儿的跨国数据库。已知或疑似综合征的患者，进行分组,分析结局数据,并与无综合征特征的患者进行比较.
结果：在研究期间，共有12553名患者被纳入登记，421人报告了已知的综合征，占登记处所有CDH病例的3.4%。总共报告了50种不同的相关综合征。当添加那些临床怀疑遗传条件的人时，CDH遗传综合征的总发生率为8.2%，综合征性CDH的出院总生存率为34%，非综合征性CDH为76.7%。最常见的是：Fryns综合征（所有综合征的19.7％，17%生存率），18三体或爱德华综合征(17.5%，9%生存率)，21三体或唐氏综合征(9%，47%生存率），三体13或Patau综合征(6.7%，14%生存率），CorneliadeLange综合征(占所有综合征的6.4%，22％生存率）和Pallister-Killian综合征（所有综合征的5.5％，39.1%生存率)。此外,379例报告染色体异常，和233种临床怀疑的综合征，除了CDH之外，还有两个变形特征或畸形)，但没有分子诊断.综合征型CDH组出生体重和出生胎龄较低，双侧CDH的发生率（2.9％）和无修复率（53％）增加。住院时间更长，在30天时需要O2。仅在15％的病例中使用了体外生命支持（ECLS）。接受手术修复的患者的生存率为73％。
结论：综合征性CDH罕见，报告的CDH病例中只有3.4%有已知的综合征或关联，但是,如果包括两个畸形特征畸形的患者，除了CDH,总共有8.2%的人被诊断出或怀疑患有遗传病。这些孩子的存活率较低。鉴于较高的非修复率和减少的ECLS使用率，伴随着高的早期死亡率，关于护理目标的决策显然会影响结果。生存取决于遗传原因。早期基因诊断很重要，可能会影响决策。本文受版权保护。保留所有权利。
