第一章 概述
先天性心脏病(congenital heart disease,CHD,简称先心病)是胎儿时期心血管发育异常而形成的先天畸形,是导致新生儿及婴幼儿死亡的主要原因之一。我国新生儿先心病发生率约为7‰~8‰,占所有出生人口缺陷的第一位。重症先心病患儿的出生,将增加社会和家庭的经济、精神负担;对于某些类型的先心病而言,产前及时、准确地诊断,出生后有望通过手术救治,改善患儿结局。
先心病是产前超声检查中最易漏诊的先天异常,规范化的胎儿心脏超声检查可提高先心病检出率。中国医师协会超声医师分会组织产前超声、儿童心脏超声、临床产科、母胎医学、心内科及心外科等领域的知名专家,在参考国外相关指南、国内外专著及文献的基础上,编写我国胎儿心脏超声检查指南。
本指南包含胎儿心脏超声检查管理要求、胎儿心脏超声筛查、胎儿超声心动图检查三部分。制定此指南的目的是为各级助产机构产前超声筛查和诊断先心病提供技术指导和参照,促进胎儿心脏超声检查和先心病诊断的规范化,最大限度地提高胎儿心脏异常的检出率,并发现遗传综合征高风险胎儿,为临床咨询、产科处理、多学科会诊提供有价值信息。
尽管中国医师协会超声医师分会已尽力将此指南内容完善,但因国内各省市、地区及医疗机构卫生经济条件和教育水平不均衡,对此指南的理解和执行可能会存在一定差异。本指南仅供我国各医疗机构超声医师指导临床工作的参考,不作为法律依据。
第二章 胎儿心脏超声检查管理要求
一、检查分级
胎儿心脏超声检查可分为三级:①Ⅰ级心脏超声筛查:即在适当的孕周常规产前超声检查(Ⅱ级产前超声检查)时进行的心脏筛查;②Ⅱ级心脏超声筛查:即系统产前超声检查(Ⅲ级产前超声检查)时进行的心脏筛查;③Ⅲ级心脏超声检查:即胎儿超声心动图检查(Ⅰ、Ⅱ、Ⅲ级扫查切面见第三章、第四章)。Ⅰ级筛查的目的是按国家卫计委《产前诊断技术管理办法》(卫基妇发〔2002〕307号)规定,筛查出“单腔心”。但Ⅰ级筛查漏诊先心病概率高,建议孕妇在妊娠中期到具有相关技术条件的医疗机构进行至少一次Ⅱ级心脏超声筛查。心脏超声筛查发现可疑异常,或有先心病高危因素的孕妇,建议胎儿超声心动图检查。
二、人员要求
从事胎儿Ⅰ级心脏超声筛查的医师必须取得执业医师资格;从事胎儿Ⅱ级心脏超声筛查的医师除需具有执业医师资格外,还应接受过产前超声诊断系统培训,掌握胎儿心脏正常超声图像,对常见心脏异常有一定的了解和识别能力。
从事胎儿超声心动图检查的医师必须取得执业医师资格,从事产科超声或胎儿心脏超声检查工作5年以上,接受过产前超声诊断系统培训,或胎儿超声心动图系统培训,掌握胎儿发育各阶段器官的正常与异常超声图像,能鉴别常见的严重体表畸形和内脏畸形,掌握胎儿发育过程中各个阶段心血管系统的解剖和生理发??
1. International Society of Ultrasound in Obstetrics and Gynecology,Carvalho JS,Allan LD,et al. ISUOG Practice Guidelines (updated):sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol,2013,41(3):348-350.
2. American Institute of Ultrasound in Medicine. AIUM practice guideline for the performance of fetal echocardiography. J Ultrasound Med,2013,32(6):1067-1082.
3. Donofrio MT,Moon-Grady AJ,Hornberger LK,et al. Diagnosis and treatment of fetal cardiac disease- a scientific statement from the American Heart Association. Circulation,2014,129(21):2183-2242.
4. Satomi G. Guidelines for fetal echocardiography. Pediatrics International:Official Journal of the Japan Pediatric Society,2015,57(1):1-21.
5. 全国胎儿心脏超声检查协作组. 胎儿心脏超声检查规范化专家共识.中华超声影像学杂志,2011,20(10):904-909.
6. 中国医师协会超声医师分会. 产前超声检查指南(2012). 中华医学超声杂志:电子版,2012,9(7):574-580.
7. 中华医学会儿科学分会心血管学组,中国医师协会儿科医师分会先天性心脏病专家委员会,《中华儿科杂志》编辑委员会,等. 胎儿先天性心脏病诊断及围产期管理专家共识. 中华儿科杂志,2015,53(10):728-733.
8. Allan L,Dangel J,Fesslova V,et al. Recommendations for the practice of fetal cardiology in Europe. Cardiology in the Young,2004,14(1):109-114.
9. Rychik J,Ayres N,Cuneo B,et al. American Society of Echocardiography guidelines and standards for performance of the fetal echocardiogram..Journal of the American Society of Echocardiography,2004,17(7):803-810.
10. Lopez L,Colan SD,Frommelt PC,et al. Recommendations for quantification methods during the performance of a pediatric echocardiogram:a report from the Pediatric Measurements Writing Group of the American Society of Echocardiography Pediatric and Congenital Heart Disease Council. J Am Soc Echocardiogr,2010,23(5):465.
11. Abuhamad A,Chaoui R. 胎儿超声心动图实用指南. 第3版. 刘琳,译.北京:北京科学技术出版社,2017.
12. 耿斌,张桂珍. 临床儿童及胎儿超声心动图学. 天津:天津科技翻译出版有限公司,2015.
13. Chiappa EM. 胎儿心脏超声解剖.唐红,卢漫,刘德泉,译. 北京:人民军医出版社,2013.
14. 董凤群. 胎儿先天性心脏病超声筛查手册. 北京:人民卫生出版社,2016.
15. 接连利,许燕. 胎儿心脏畸形解剖与超声对比诊断. 北京:人民卫生出版社,2016.
16. Rychik J,Tian ZY. 胎儿心血管超声影像医学. 袁丽君,曹铁生,段云友,等译. 北京:科学出版社,2017.
17. 董凤群,赵真. 先天性心脏病实用超声诊断学. 第2版. 北京:人民军医出版社,2011.
18. 李胜利. 胎儿畸形产前超声与病理解剖图谱. 北京:人民军医出版社,2013.
19. 姚远,李胜利,陈秀兰,等.静脉导管缺失的产前超声诊断.中国超声医学杂志,2011,27(5):458-460.
20. Berg C,Kamil D,Geipel A,et al.Absence ductus venosus importance of umbilical venous drainage site.Ultrasound Obstet Genecol,2006,28(3):275-281.
21. Schneider C,McCrindle BW,Carvalho JS,et al. Development of Z-scores for fetal cardiac dimensions from echocardiography. Ultrasound Obstet Gynecol,2005,26(6):599-605.
22. 吕国荣,林惠通,王振华,等. 超声心动图检测胎儿右心优势及其临床意义. 中国超声医学杂志,2010,26(11):1024-1027.
23. 谷孝艳,何怡华,刘琳,等. 胎儿超声心动图诊断卵圆孔血流受限或提前闭合及转归分析. 中国医学影像技术,2012,28(8):1583-1586.
24. 董凤群,张晓花,邢小芬,等. 超声心动图对正常胎儿卵圆孔、卵圆孔瓣的定量研究.中华超声影像学杂志,2012,21(10):916-918.
25. Hung JH,Lu JH,Hung CY. Prenatal diagnosis of atrial septal aneurysm.Journal Clinical Ultrasound,2008,36(1):51-52.
26. Vettraino IM,Huang R,Comstock CH. The normal offset of the tricuspid septal leaflet in the fetus.J Ultrasound Med,2002,21(10):1099-1104.
27. Dong FQ,Zhang YH,Li ZA,et al. Evaluation of normal fetal pulmonary veins from the early second trimester by enhanced-flow (e-flow)echocardiography. Ultrasound Obstet Gynecol,2011,38(6):652-657.
28. Slesnick TC,Ayres NA,Altman CA,et al. Characteristics and outcomes of fetuses with pericardial effusions. Am J Cardiol,2005,96(4):599-601.
29. Kyeong KS,Won HS,Lee MY,et al. Clinical Outcomes of Prenatally Diagnosed Cases of Isolated and Nonisolated Pericardial Effusion. Fetal Diaqn Ther,2014,36(4):320-325.
30. 袁家,黄萍,王红英,等. 胎儿心包积液的病因与随访研究. 中国医刊,2016,51(3):76-80.
31. Menahem S,Rotstein A,Meagher S,et al. Rightward convexity of the great vessel arising from the anterior ventricle:a novel fetal marker for transposition of the great arteries. Ultrasound Obstet Gynecol,2013,41(2):168-171.
32. 李胜利,文华轩.胎儿超声断层解剖模式图设计与应用:胎儿三血管切面及三血管气管切面异常表现. 中华医学超声杂志(电子版),2010,7(6):948-966.
33. Moon MH,Cho JY,Park EJ,et al. Three-vessel view of the fetal heart:In utero development of the great vessels. Prenat Diagn,2007,27(2):158-163.
34. 薛敏,张蒂荣,余颖,等. 产前超声诊断胎儿完全血管环的价值. 中华超声影像学杂志,2011,20(8):730-732.
35. 许燕,接连利,姜志荣,等. 三血管观多切面扫查对胎儿先天性血管环的超声诊断价值.中国超声医学杂志,2015,31(9):807-809.
36. 徐鹏,李军,王音,等. 血管环的产前影像学诊断与预后评估. 中华超声影像学杂志,2015,24(10):845-849.
37. 郭永华. 主动脉与肺动脉内径比值及相对位置在检查胎儿先天性心脏病中的价值. 中华临床医师杂志(电子版),2013,7(6):2457-2460.
38. Wang SF,Ward C,Lee Tannoek A,et al. Pulmonary artery/aorta ratio in simple screening for fetal outflow tract abnormalities during the second trimester. Ultrasound Obstet Gyneeol,2007,30(3):275-280.
39. Ishii Y,Inamura N,Kawazu Y,et al. I-shaped’ sign in the upper mediastinum:a novel potential marker for antenatal diagnosis of d-transposition of the great arteries. Ultrasound Obstet Gynecol,2013,41(6):667-671.
40. 董凤群,张燕宏,卢冬敏,等. 胎儿动脉导管的超声检测. 中华超声影像学杂志,2011,20(1):49-52.
41. 董凤群,张燕宏,侯振洲,等. 超声心动图评价动脉导管对胎儿先天性心脏病的诊断价值. 中华超声影像学杂志,2011,20(4):324-326.
42. 朱梅,刘传玺,李垂平,等. 彩色多普勒超声诊断胎儿动脉导管早闭.中华超声影像学杂志,2004,13(4):278-280.
43. 张云姣,赵博文,刘志聪,等. 超声心动图诊断动脉导管收缩及其临床意义. 中华超声影像学杂志,2013,22(4):305-307.
44. Matsui H,Mellander M,Roughton M,et al. Morphological and physiological predictors of fetal aortic coarctation.Circulation,2008,118(18):1793-1801.
45. 张晓花,董凤群,郭亚周,等. 胎儿单纯主动脉缩窄的超声诊断分析.中华超声影像学杂志,2014,23(7):632-634.
46. 王锟,董凤群,贺新建,等. 孕晚期正常胎儿产前产后主动脉弓峡部血流量参数值的建立. 中国超声医学杂志,2016,32(11):1011-1014.
47. Lee W,Riggs T,Amula V,et al. Fetal echocardiography:z-score reference ranges for a large patient population.Ultrasound Obstet Gynecol,2010,35(1):28-34.
48. Ionescu C. The benefits of 3D-4D fetal echocardiography. Maedica(Buchar),2010,5(1):45-50.
49. Yagel S,Cohen SM,Shapiro I,et al. 3D and 4D ultrasound in fetal cardiac scanning:a new look at the fetal heart. Ultrasound Obstet Gynecol,2007,29(1):81-95.
50. Crispi F,Valenzuela-Alcaraz B,Cruz-Lemini M,et al. Ultrasound assessment of fetal cardiac function. Australas J Ultrasound Med,2013,16(4):158-167.
51. Comas M,Crispi F,Cruz-Martinez R,et al. Usefulness of myocardial tissue Doppler vs conventional echocardiography in the evaluation of cardiac dysfunction in early-onset intrauterine growth restriction. Am J Obstet Gynecol,2010,203(1):45.e1-7.
52. Kleinman CS,Nehgme RA. Cardiac arrhythmias in the human fetus.Pediatric cardiology,2004,25(3):234-251.
53. Lopriore E,Aziz MI,Nagel HT,et al. Long-term neurodevelopmental outcome after fetal arrhythmia. Am J Obstet Gynecol,2009,201(1):46.e1-e5.
54. Simpson J. Textbook of Fetal Cardiology. London:Greenwich Medical Media,2000.
55. Krapp M,Kohl T,Simpson JM,et al. Review of diagnosis,treatment,and outcome of fetal atrial flutter compared with supraventricular tachycardia.Heart,2003,89(8):913-917.
56. 樊庆泊,盖铭英,杨剑秋. 胎儿心律失常的临床意义及预后的研究.中华围产医学杂志,2003,6(5):269-272.
57. 赵博文,汤富刚,潘美,等. 频谱多普勒及M-型超声心动图检测胎儿心律失常的临床研究. 中国超声医学杂志,2003,19(8):591-594.
58. 王新房. 超声心动图分析心律失常. 临床心电学杂志,2016,25(4):241-252.
59. 周开宇,华益民,朱琦,等. 胎儿超声心动图检查对胎儿心律失常和心脏结构异常的诊断价值. 临床儿科杂志,2010,28(7):644-648.
60. Strasburger JF,Wakai RT. Fetal cardiac arrhythmia detection and in utero therapy. Nature Reviews Cardiology,2010,7(5):277-290.
61. Strasburger JF,Cheulkar B,Wichman HJ. Perinatal arrhythmias:diagnosis and management. Clinics in Perinatology,2007,34(4):627.
62. DeVore GR. Assessing fetal cardiac ventricular function. Semin Fetal Neonatal Med,2005,10(6):515e541.
63. Tsutsumi T,Ishii M,Eto G,et al. Serial evaluation for myocardial performance in fetuses and neonates using a new Doppler index. Pediatr Int,1999,41(6):722-727.
64. Friedman D,Buyon J,Kim M,et al. Fetal cardiac function assessed by Doppler myocardial performance index (Tei index). Ultrasound Obstet Gynecol,2003,21(1):33-36.
65. Di Salvo GD,Russo MG,Paladini D,et al. Two-dimensional strain to assess regional left and right ventricular longitudinal function in 100 normal fetuses. Eur J of Echocardiogr,2008,9(6):754-756.
66. Bui YK,Kipps AK,Brook MM,et al. Tissue Doppler is more sensitive and reproducible than spectral pulsed-wave Doppler for fetal right ventricle myocardial performance index determination in normal and diabetic pregnancies. J Am Soc Echocardiogr,2013,26(5):507-514.
67. Huhta JC. Fetal congestive heart failure. Semin Fetal Neonatal Med,2005,10(6):542-552.
68. Ghawi H,Gendi S,Mallula K,et al. Fetal left and right ventricle myocardial performance index:defining normal values for the second and third trimesters-single tertiary center experience. Arch Gynecol Obstet,2016,294(5):917-924.
69. Stulak JM,Burkhart HM,Dearani JA. Reoperations after initial repair of complete atrioventricular septal defect. Ann Thorac Surg,2009,87:1872-1878
70. Dodge-Khatami A,Herger S,Rousson V,et al. Outcomes and reoperations after total correction of complete atrioventricular septal defect. Eur J Cardiothorac Surg,2008,34:745-750.
71. Suzuki T,Bove EL,Devaney EJ,et al. Results of definitive repair of complete atrioventricular septal defect in neonates and infants. Ann Thorac Surg,2008,86(2):596-602.
72. Louis-Jacques AF,Obican S,Nguyen T,et al. Prenatal diagnosis of aortopulmonary window associated with aberrant subclavian artery.Cardiol Young,2017,27(7):1441-1443.
73. Freud LR,Escobar-Diaz MC,Kalish BT,et al. Outcomes and predictors of perinatal mortality in fetuses with Ebstein’s anomaly or tricuspid valve dysplasia in the current era:a multi-center study. Circulation,2015,132(6):481-489.
74. Celermajer DS,Cullen S,Sullivan ID,et al. Outcome in neonates with Ebstein’s anomaly.J am Coll Cardiol,1992,19(5):1041-1046.
75. Andrews RE,Tibby SM,Sharland GK,et al. Prediction of outcome of tricuspid valve malformations diagnosed during fetal life. Am J Cardiol,2008,101:1046-1050.
76. Roman KS,Fouron JC,Nii M,et al.Determinants of outcome in fetal pulmonary valve stenosis or atresia with intact ventricular septum. Am J Cardiol,2007,99(5):699-703.
77. Marantz P,Grinenco SF,et al. Intervention for critical aortic stenosis:advances,research and postnatal follow-up. Curr Opin Cardiol,2015,30(1):89-94.
78. Kawazu Y,Inamura N,Ishii R,et al. Prognosis in tetralogy of Fallot with absent pulmonary valve. Pediatr Int,2015,57(2):210-216.
79. Escribano D,Herraiz I,Granados MA,et al. Tetralogy of Fallot:prediction of outcome in the mid-second trimester of pregnancy. Prenat Diagn,2011,31(12):1126-1133.
80. Poon LC,Huggon IC,Zidere V,et al. Tetralogy of Fallot in the fetus in the current era. Ultrasound Obstet Gynecol,2007,29(6):625-627.
81. Gelehrter S,Owens ST,Russell MW,et al. Accuracy of the fetal echocardiogram in double-outlet right ventricle. Congenital Heart Dis,2007,2(1):32-37.
82. Lagopoulos ME,Manlhiot C,McCrindle BW,et al. Impact of prenatal diagnosis and anatomical subtype on outcome in double outlet right ventricle. American Heart Journal,2010,160(4):692-700.
83. 张岩,李守军,闫军,等. Ⅰ型和Ⅱ型永存动脉干的外科治疗结果及随访分析. 中国胸心血管外科临床杂志,2012,19(1):19-21.
84. Gardiner HM,Belmar C,Tulzer G,et al. Morphologic and functional predictors of eventual circulation in the fetus with pulmonary atresia or critical pulmonary stenosis with intact septum. J Am Coll Cardiol,2008,13(51):1299-1308.
85. 王智琪,莫绪明,孙剑,等. 小婴儿室间隔完整性膜性肺动脉闭锁外科镶嵌治疗. 中国循环杂志,2014,29(1):55-58.
86. Li S,Chen W,Zhang Y,et al. Hybrid therapy for pulmonary atresia with intact ventricular septum. Ann Thorac Surg,2011,91(5):1467-1471.
87. Traisrisilp K,Tongprasert F,Srisupundit K,et al. Prenatal differentiation between truncus arteriosus (Types Ⅱ and Ⅲ) and pulmonary atresia with ventricular septal defect. Ultrasound in Obstetrics & Gynecology,2015,46(5):564-570.
88. Qamar ZA,Goldberg CS,Devaney EJ,et al.Current risk factors and outcomes for the arterial switch operation. Ann Thorac Surg,2007,84(3):871-878.
89. Stoica S,Carpenter E,Campbell D,et al. Morbidity of the arterials witch operation. Ann Thorac Surg,2012,93(6):1977-1983.
90. 冯滨,崔彬,刘迎龙,等. 先天性矫正型大动脉转位的外科治疗进展.中华心胸外科杂志,2005,21(2):123-125.
91. Gewillig M,Brown SC,Roggen M,et al. Dysfunction of the fetal arterial duct results in a wide spectrum of cardiovascular pathology. Acta Cardiol,2017,26(1):1-11.
92. 张志芳,张玉奇,陈轶维,等. 左下肺动脉吊带的彩色多普勒超声心动图诊断价值分析.医学影像学杂志,2016,26(11):1994-1997.
93. 吴力军,张玉奇,高玲玲,等. 肺动脉吊带的超声心动图诊断价值及漏误诊分析. 中国临床医学影像杂志,2015,26(10):696-699.
94. 沈蓉,张玉奇,蔡及明,等. 双主动脉弓的超声心动图诊断价值及漏诊分析. 医学影像学杂志,2009,19(12):1545-1548.
95. Backer CL,Mong é MC,Popescu AR,et al. Vascular rings. Semin Pediatr Surg,2016,25(3):165-175.
96. Seale AN,Carvalho JS,Gardiner HM,et al. Total anomalous pulmonary venous connection:impact of prenatal diagnosis. Ultrasound Obstet Gynecol,2012,40(3):310-318.
97. Wang SS,Zhang YQ,Chen SB,et al. Regression equations for calculation of z scores for echocardiographic measurements of right heart structures in healthy Han Chinese children. J Clin Ultrasound,2017,45(5):293-303.
98. 蒋演,夏红梅,任冰,等. 胎儿右心发育不良综合征超声影像学及病理学研究. 中华超声影像学杂志,2013,22(2):115-118.
99. 吴力军,张玉奇,陈亚青,等. 先天性三尖瓣口无功能的超声心动图诊断. 中华超声影像学杂志,2016,25(8):678-682.
100. 张志芳,张玉奇,陈树宝,等. 肺动脉闭锁伴室间隔缺损的产前超声诊断价值分析. 医学影像学杂志,2015,25(6):989-992.
101. Martin BJ,Mah K,Eckersley L,et al. Hypoplastic left heart syndrome is not a predictor of worse intermediate mortality post Fontan. Ann Thorac Surg,2017,104(6):2037-2044.
102. Wu YR,Zhang YQ,Chen LJ,et al. Assessment of longitudinal systolic ventricular dysfunction and asynchrony using velocity vector imaging in children with a single right ventricle. Pediatr Cardiol,2014,35(7):1147-1154.
103. Zhang YQ,Sun K,Zhu SL,et al. Doppler myocardial performance index in assessment of ventricular function in children with single ventricles.World J Pediatr,2008,4(2):109-113.
104. 吴兰平,张玉奇,孙锟,等. 小儿原发性心脏肿瘤的超声心动图诊断及心功能评估. 医学影像学杂志,2012,22(3):364-367.
105. Padalino MA,Reffo E,Cerutti A,et al. Medical and surgical management of primary cardiac tumors in infants and children. Cardiol Young,2014,24(2):268-274.
106. Ezon DS,Ayres NA,Altman CA,et al. Echocardiographic parameters and outcomes in primary fetal cardiomyopathy. J Ultrasound Med,2016,35(9):1949-1955.
107 Pierpont ME,Basson CT,Benson DW,et al. Genetic basis for congenital heart defects:current knowledge:a scientific statement from the American Heart Association Congenital Cardiac Defects Committee,Council on Cardiovascular Disease in the Young:endorsed by the American Academy of Pediatrics. Circulation,2007,115(23):3015-3038.
108. Hernandez-Andrade E,Figueroa-Diesel H,Kottman C,et al.Gestational-age-adjusted reference values for the modified myocardial performance index for evaluation of fetal left cardiac function.Ultrasound Obstet Gynecol,2007,29(3):321-325.
109. Hernandez-Andrade E,Crispi F,Benavides-Serralde JA,et al.Comtribution of the myocardial performance index and aortic isthmus blood flow index to predicting mortality in preterm growth-restricted fetuses. Ultrasound Obstet Gynecol,2009,34(4):430-436.
110. 张大伟,范颖,李燕娜,等. 胎儿卵圆孔提前闭合与妊娠结局的临床分析. 实用妇产科杂志,2015,31(6):470-472.
111. Benavides-Serralde A,Scheier M,Cruz-Martinez R,et al. Changes in central and peripheral circulation in intrauterine growth-restricted fetuses at different stages of umbilical artery flow deterioration:new fetal cardiac and brain parameters. Gynecol Obstet Invest,2011,71(4):274-280.
112. 陆国辉,徐湘民. 临床遗传咨询. 北京:北京大学医学出版社,2007.
113. Manning N,Kaufman L,Robert P. Genitics of cardiological disorders.Semin Fetal Neonatal Med,2005,10(3):259-269.
114. Bossert T,Walther T,Gummert J,et al. Cardiac malformations associated with the Holt-Oram syndrome-report on a family and review of the literature.Thora Cardiovasc Surg,2002,50(5):312-314.