PDF(Pubmed)
Abstract：
BACKGROUND: Prenatal detection of critical congenital heart disease (CCHD) optimises perinatal decision-making and neonatal outcomes. The objective of this study was to determine the prenatal screening performance, care pathways and perinatal outcomes for prenatally and postnatally diagnosed cases of CCHD over a four-year period.
METHODS: This retrospective cohort study in a tertiary centre and its two affiliated secondary sites examined all cases of CCHD, including cases of pregnancy termination and in-utero fetal death, neonatal death and liveborn babies that underwent cardiac catheterization or surgery in the first six weeks of life. Prenatal and postnatal data were ascertained from the first trimester assessment for all patients diagnosed prenatally. Cases requiring intervention that were first identified in the postnatal period were included to determine prenatal detection rates. Follow-up for all cases of CCHD continued to one year of age.
RESULTS: In a consecutive cohort of 49,950 pregnancies in a 4-year period 01/2019 to 12/2022, a prenatal diagnosis of CCHD was made in 96 cases, yielding a prevalence of 1.9 per 1000 births. The prenatal detection for right duct-dependant heart pathology and congenital heart block was 100%, 85% for left duct-dependant pathology and 93% for transposition of the great arteries (TGA). In the prenatally diagnosed group, 37% of cases were complicated by extracardiac structural abnormalities, a genetic diagnosis or both. All cases of prenatal detection were identified in the context of routine anatomy screening rather than specialist Fetal Cardiac screening services. Almost half of all pregnancies complicated by CCHD did not undergo neonatal cardiac intervention, by virtue of parental choice determined either prenatally or after birth. An additional eight babies were diagnosed with CCHD in the neonatal period, such that the prenatal detection rate for CCHD was 92% (96/104, 95% CI = 84%-96%). Survival at 1-year for infants deemed suitable for CCHD surgery was 85%.
CONCLUSIONS: In a large unselected population, optimal rates of prenatal detection of critical congenital heart disease can be achieved by a protocolised approach to mid-trimester fetal anatomy ultrasound, underpinned by a programme of sonographer education and training. The cardiac abnormalities most likely to evade prenatal detection are left-sided obstructive lesions.
METHODS: This retrospective cohort study in a tertiary centre and its two affiliated secondary sites examined all cases of CCHD, including cases of pregnancy termination and in-utero fetal death, neonatal death and liveborn babies that underwent cardiac catheterization or surgery in the first six weeks of life. Prenatal and postnatal data were ascertained from the first trimester assessment for all patients diagnosed prenatally. Cases requiring intervention that were first identified in the postnatal period were included to determine prenatal detection rates. Follow-up for all cases of CCHD continued to one year of age.
RESULTS: In a consecutive cohort of 49,950 pregnancies in a 4-year period 01/2019 to 12/2022, a prenatal diagnosis of CCHD was made in 96 cases, yielding a prevalence of 1.9 per 1000 births. The prenatal detection for right duct-dependant heart pathology and congenital heart block was 100%, 85% for left duct-dependant pathology and 93% for transposition of the great arteries (TGA). In the prenatally diagnosed group, 37% of cases were complicated by extracardiac structural abnormalities, a genetic diagnosis or both. All cases of prenatal detection were identified in the context of routine anatomy screening rather than specialist Fetal Cardiac screening services. Almost half of all pregnancies complicated by CCHD did not undergo neonatal cardiac intervention, by virtue of parental choice determined either prenatally or after birth. An additional eight babies were diagnosed with CCHD in the neonatal period, such that the prenatal detection rate for CCHD was 92% (96/104, 95% CI = 84%-96%). Survival at 1-year for infants deemed suitable for CCHD surgery was 85%.
CONCLUSIONS: In a large unselected population, optimal rates of prenatal detection of critical congenital heart disease can be achieved by a protocolised approach to mid-trimester fetal anatomy ultrasound, underpinned by a programme of sonographer education and training. The cardiac abnormalities most likely to evade prenatal detection are left-sided obstructive lesions.
摘要：
背景：危重先天性心脏病（CCHD）的产前检测可优化围产期决策和新生儿结局。这项研究的目的是确定产前筛查性能，4年期间产前和产后诊断的CCHD病例的护理途径和围产期结局.
方法：这项在三级中心及其两个附属二级中心进行的回顾性队列研究检查了所有CCHD病例，包括终止妊娠和宫内胎儿死亡的病例，新生儿死亡和在出生后的前六周接受心导管插入术或手术的活出生婴儿。从产前诊断的所有患者的妊娠早期评估中确定产前和产后数据。包括在产后首次发现的需要干预的病例，以确定产前检出率。所有CCHD病例的随访持续到1岁。
结果：在2019年01月12日至2022年12月4日的连续49,950例妊娠队列中，96例进行了CCHD的产前诊断，患病率为每1000名新生儿1.9名。产前诊断为右导管依赖性心脏病理学和先天性心脏传导阻滞的比例为100%，左侧导管依赖性病理学占85％，大动脉转位（TGA）占93％。在产前诊断组中，37%的病例并发心外结构异常，基因诊断或两者兼而有之。所有产前检测病例都是在常规解剖筛查而不是专业胎儿心脏筛查服务的背景下确定的。在所有因CCHD而并发的妊娠中，几乎有一半没有接受新生儿心脏介入治疗，根据出生前或出生后决定的父母选择。另有8名婴儿在新生儿期被诊断患有CCHD,因此，CHD的产前检出率为92％（96/104，95％CI=84％-96％）。被认为适合CCHD手术的婴儿的1年生存率为85％。
结论：在大量未选择的人群中，通过对中期胎儿解剖超声检查的protocolised方法可以实现对严重先天性心脏病的最佳产前检测率，以超声医师教育和培训计划为基础。最有可能逃避产前检测的心脏异常是左侧阻塞性病变。
方法：这项在三级中心及其两个附属二级中心进行的回顾性队列研究检查了所有CCHD病例，包括终止妊娠和宫内胎儿死亡的病例，新生儿死亡和在出生后的前六周接受心导管插入术或手术的活出生婴儿。从产前诊断的所有患者的妊娠早期评估中确定产前和产后数据。包括在产后首次发现的需要干预的病例，以确定产前检出率。所有CCHD病例的随访持续到1岁。
结果：在2019年01月12日至2022年12月4日的连续49,950例妊娠队列中，96例进行了CCHD的产前诊断，患病率为每1000名新生儿1.9名。产前诊断为右导管依赖性心脏病理学和先天性心脏传导阻滞的比例为100%，左侧导管依赖性病理学占85％，大动脉转位（TGA）占93％。在产前诊断组中，37%的病例并发心外结构异常，基因诊断或两者兼而有之。所有产前检测病例都是在常规解剖筛查而不是专业胎儿心脏筛查服务的背景下确定的。在所有因CCHD而并发的妊娠中，几乎有一半没有接受新生儿心脏介入治疗，根据出生前或出生后决定的父母选择。另有8名婴儿在新生儿期被诊断患有CCHD,因此，CHD的产前检出率为92％（96/104，95％CI=84％-96％）。被认为适合CCHD手术的婴儿的1年生存率为85％。
结论：在大量未选择的人群中，通过对中期胎儿解剖超声检查的protocolised方法可以实现对严重先天性心脏病的最佳产前检测率，以超声医师教育和培训计划为基础。最有可能逃避产前检测的心脏异常是左侧阻塞性病变。
