Azadeh Issapour, Minnie N Dasgupta, Amy Zhang, Theresa A Tacy, Shiraz A Maskatia, R Thomas Collins, Michelle Kaplinski
{"title":"无动脉导管法洛四联症的胎儿特征和围产儿结局。","authors":"Azadeh Issapour, Minnie N Dasgupta, Amy Zhang, Theresa A Tacy, Shiraz A Maskatia, R Thomas Collins, Michelle Kaplinski","doi":"10.1007/s00246-024-03745-w","DOIUrl":null,"url":null,"abstract":"<p><p>Absence of the ductus arteriosus (DA) is common in tetralogy of Fallot (TOF), occurring in up to 30% of cases. Yet, the clinical course and fetal echocardiographic features are not well described, limiting prenatal counseling. This study examines the fetal echocardiographic characteristics and perinatal outcomes in children with TOF absent DA (TOF/ADA), comparing them to those with a DA (TOF/DA). Fetal echocardiograms were retrospectively reviewed in children with TOF evaluated at our center between 12/1/2014 and 11/1/2022. Those with complete atrioventricular septal defect, pulmonary atresia or absent pulmonary valve were excluded. Diagnosis of TOF and absence of the DA were postnatally confirmed. Fetal echocardiographic indices, clinical characteristics, and perinatal course were compared between groups. The primary outcome was intervention (surgical or catheter-based) in the first 30 days of life. Among 58 fetuses with TOF, 23 (40%) had ADA, and 35 (60%) had a DA. The groups were similar in gestational age, with similar Apgar scores. Four neonates required interventions for cyanosis: 2 with TOF/ADA and 2 with TOF/DA. One TOF/ADA patient died within the first year of life, from non-cardiac causes. Those with TOF/ADA had smaller third trimester main pulmonary artery (MPA) z-scores (- 2.75 vs. - 2.18, p = 0.02) and smaller neonatal pulmonary valve, MPA, and branch pulmonary artery z-scores. A genetic diagnosis was more common with ADA, specifically 22q11.2 deletion (22%, p = 0.03). While there were differences observed across groups, including smaller fetal and neonatal right ventricular outflow tract size and more diagnoses of 22q11.2 in ADA, absence of the DA was not linked to poorer clinical outcomes. This study expands our understanding of fetal echocardiographic findings and clinical trajectory in TOF/ADA, offering crucial insights for consultation and postnatal planning.</p>","PeriodicalId":19814,"journal":{"name":"Pediatric Cardiology","volume":" ","pages":""},"PeriodicalIF":1.5000,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Fetal Characteristics and Perinatal Outcomes in Tetralogy of Fallot Without a Ductus Arteriosus.\",\"authors\":\"Azadeh Issapour, Minnie N Dasgupta, Amy Zhang, Theresa A Tacy, Shiraz A Maskatia, R Thomas Collins, Michelle Kaplinski\",\"doi\":\"10.1007/s00246-024-03745-w\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Absence of the ductus arteriosus (DA) is common in tetralogy of Fallot (TOF), occurring in up to 30% of cases. Yet, the clinical course and fetal echocardiographic features are not well described, limiting prenatal counseling. This study examines the fetal echocardiographic characteristics and perinatal outcomes in children with TOF absent DA (TOF/ADA), comparing them to those with a DA (TOF/DA). Fetal echocardiograms were retrospectively reviewed in children with TOF evaluated at our center between 12/1/2014 and 11/1/2022. Those with complete atrioventricular septal defect, pulmonary atresia or absent pulmonary valve were excluded. Diagnosis of TOF and absence of the DA were postnatally confirmed. Fetal echocardiographic indices, clinical characteristics, and perinatal course were compared between groups. The primary outcome was intervention (surgical or catheter-based) in the first 30 days of life. Among 58 fetuses with TOF, 23 (40%) had ADA, and 35 (60%) had a DA. The groups were similar in gestational age, with similar Apgar scores. Four neonates required interventions for cyanosis: 2 with TOF/ADA and 2 with TOF/DA. One TOF/ADA patient died within the first year of life, from non-cardiac causes. Those with TOF/ADA had smaller third trimester main pulmonary artery (MPA) z-scores (- 2.75 vs. - 2.18, p = 0.02) and smaller neonatal pulmonary valve, MPA, and branch pulmonary artery z-scores. A genetic diagnosis was more common with ADA, specifically 22q11.2 deletion (22%, p = 0.03). While there were differences observed across groups, including smaller fetal and neonatal right ventricular outflow tract size and more diagnoses of 22q11.2 in ADA, absence of the DA was not linked to poorer clinical outcomes. This study expands our understanding of fetal echocardiographic findings and clinical trajectory in TOF/ADA, offering crucial insights for consultation and postnatal planning.</p>\",\"PeriodicalId\":19814,\"journal\":{\"name\":\"Pediatric Cardiology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2024-12-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pediatric Cardiology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00246-024-03745-w\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CARDIAC & CARDIOVASCULAR SYSTEMS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pediatric Cardiology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00246-024-03745-w","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0
摘要
动脉导管缺失(DA)在法洛四联症(TOF)中很常见,发生率高达30%。然而,临床过程和胎儿超声心动图特征没有很好地描述,限制了产前咨询。本研究探讨了TOF无DA (TOF/ADA)患儿的胎儿超声心动图特征和围产期结局,并将其与有DA (TOF/DA)患儿进行了比较。回顾性回顾2014年12月1日至2022年11月1日期间在本中心评估的TOF患儿的胎儿超声心动图。排除完全性房室间隔缺损、肺闭锁或肺瓣膜缺失者。出生后确诊TOF和DA缺失。比较两组胎儿超声心动图指标、临床特征及围产儿病程。主要结局是在出生后30天内进行干预(手术或导管)。在58例TOF胎儿中,23例(40%)有ADA, 35例(60%)有DA。两组的胎龄相似,阿普加评分也相似。4名新生儿因紫绀需要干预:2名TOF/ADA和2名TOF/DA。1例TOF/ADA患者在出生后一年内死于非心脏原因。TOF/ADA患者在妊娠晚期肺动脉主动脉(MPA) z-评分较低(- 2.75 vs - 2.18, p = 0.02),新生儿肺动脉瓣、MPA和肺动脉分支z-评分较低。遗传诊断在ADA中更为常见,特别是22q11.2缺失(22%,p = 0.03)。虽然两组之间存在差异,包括胎儿和新生儿右心室流出道大小较小,ADA中22q11.2的诊断更多,但缺乏DA与较差的临床结果无关。本研究扩展了我们对TOF/ADA的胎儿超声心动图表现和临床轨迹的理解,为咨询和产后计划提供了重要的见解。
Fetal Characteristics and Perinatal Outcomes in Tetralogy of Fallot Without a Ductus Arteriosus.
Absence of the ductus arteriosus (DA) is common in tetralogy of Fallot (TOF), occurring in up to 30% of cases. Yet, the clinical course and fetal echocardiographic features are not well described, limiting prenatal counseling. This study examines the fetal echocardiographic characteristics and perinatal outcomes in children with TOF absent DA (TOF/ADA), comparing them to those with a DA (TOF/DA). Fetal echocardiograms were retrospectively reviewed in children with TOF evaluated at our center between 12/1/2014 and 11/1/2022. Those with complete atrioventricular septal defect, pulmonary atresia or absent pulmonary valve were excluded. Diagnosis of TOF and absence of the DA were postnatally confirmed. Fetal echocardiographic indices, clinical characteristics, and perinatal course were compared between groups. The primary outcome was intervention (surgical or catheter-based) in the first 30 days of life. Among 58 fetuses with TOF, 23 (40%) had ADA, and 35 (60%) had a DA. The groups were similar in gestational age, with similar Apgar scores. Four neonates required interventions for cyanosis: 2 with TOF/ADA and 2 with TOF/DA. One TOF/ADA patient died within the first year of life, from non-cardiac causes. Those with TOF/ADA had smaller third trimester main pulmonary artery (MPA) z-scores (- 2.75 vs. - 2.18, p = 0.02) and smaller neonatal pulmonary valve, MPA, and branch pulmonary artery z-scores. A genetic diagnosis was more common with ADA, specifically 22q11.2 deletion (22%, p = 0.03). While there were differences observed across groups, including smaller fetal and neonatal right ventricular outflow tract size and more diagnoses of 22q11.2 in ADA, absence of the DA was not linked to poorer clinical outcomes. This study expands our understanding of fetal echocardiographic findings and clinical trajectory in TOF/ADA, offering crucial insights for consultation and postnatal planning.
期刊介绍:
The editor of Pediatric Cardiology welcomes original manuscripts concerning all aspects of heart disease in infants, children, and adolescents, including embryology and anatomy, physiology and pharmacology, biochemistry, pathology, genetics, radiology, clinical aspects, investigative cardiology, electrophysiology and echocardiography, and cardiac surgery. Articles which may include original articles, review articles, letters to the editor etc., must be written in English and must be submitted solely to Pediatric Cardiology.