Prenatal diagnosis and treatment planning of congenital heart defects—possibilities and limits
详细信息    查看全文
  • 作者:Mathias Nelle (1)
    Luigi Raio (4)
    Mladen Pavlovic (2)
    Thierry Carrel (3)
    Daniel Surbek (4)
    Matthias Meyer-Wittkopf (4)
  • 关键词:congenital heart disease ; fetal echocardiography ; in utero cardiac palliation ; postnatal intervention ; prenatal diagnosis
  • 刊名:World Journal of Pediatrics
  • 出版年:2009
  • 出版时间:February 2009
  • 年:2009
  • 卷:5
  • 期:1
  • 页码:18-22
  • 全文大小:213KB
  • 参考文献:1. Aaronson OS, Tulipan NB, Cywes R, Sundell HW, Davis GH, Bruner JP, et al. Robot-assisted endoscopic intrauterine myelomeningocele repair: a feasibility study. Pediatr Neurosurg 2002;36:85-9. CrossRef
    2. Allan LD. Cardiac anatomy screening: what is the best time for screening in pregnancy? Curr Opin Obstet Gynecol 2003; 15:143-46. CrossRef
    3. Allan LD, Apfel H, Printz B. Outcome after prenatal diagnosis of the hypoplastic left heart syndrome. Heart 1998;79:371-73.
    4. Allan LD. Evolution of echocardiographic findings in the fetus. Circulation 1997;96:391-92.
    5. Allan LD. The outcome of fetal congenital heart disease. Semin Perinatol 2000;24:380-84. CrossRef
    6. Arzt W, Tulzer G, Aigner M, Mair R, Hafner E. Invasive intrauterine treatment of pulmonary atresia/intact ventricular septum with heart failure. Ultrasound Obstet Gynecol 2003;21:186-88. CrossRef
    7. Banek CS, Hecher K, Hackeloer BJ, Bartmann P. Long-term neurodevelopmental outcome after intrauterine laser treatment for severe twin-twin transfusion syndrome. Am J Obstet Gynecol 2003;188:876-80. CrossRef
    8. Bonnet D, Coltri A, Butera G, Fermont L, Le Bidois J, Kachaner J, et al. Detection of transposition of the great arteries in foetuses reduces neonatal morbidity and mortality. Circulation 1999;99:916-18.
    9. Bull C. Current and potential impact of fetal diagnosis on prevalence and spectrum of serious congenital heart disease at term in the UK. Lancet 1999;354:1242-247. CrossRef
    10. Cheatham JP. Intervention in the critically ill neonate and infant with hypoplastic left heart syndrome and intact atrial septum. J Interv Cardiol 2001;14:357-66. CrossRef
    11. Cohen MS, Rychik J. The small left ventricle: how small is too small for biventricular repair? Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu 1999;2:189-02.
    12. Cohen MS. Fetal diagnosis and management of congenital heart disease. Clin Perinatol 2001;28:11-9. CrossRef
    13. Deprest J, Gratacos E, Nicolaides KH; FETO Task Group. Fetoscopic tracheal occlusion (FETO) for severe congenital diaphragmatic hernia: evolution of a technique and preliminary results. Ultrasound Obstet Gynecol 2004;24:121-26. CrossRef
    14. Ferencz C, Rubin JD, McCarter RJ, Brenner J, Neill CA, Perry LW, et al. Congenital heart disease: prevalence at livebirth. The Baltimore Washington infant study. Am J Epidemiol 1985;121:31-6.
    15. Fasnacht M, Pfammatter JP, Ghisla R, Sekarski N, Steinmann H, Kuen P, et al. FETCH study: prospective fetal cardiology study in Switzerland. Cardiol Young 2005;15(Suppl 2):35A.
    16. Friedman AH, Kleinman CS, Copel JA. Diagnosis of cardiac defects: where we’ve been, where we are and where we’re going. Prenat Diagn 2002;22:280-84. CrossRef
    17. Gardiner HM. Fetal echocardiography: 20 years of progress. Heart 2001;86Suppl 2:II12-2.
    18. Goldmuntz E, Bamford R, Karkera JD, de la Cruz J, Roessler E, Muenke M. CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet 2002;70:776-80. CrossRef
    19. Hofbeck M, Beinder E, Kirchgessner G, Buheitel G, Singer H. Perinatal management of children with prenatal diagnosis of congenital heart defects. Z Geburtsh Neonatol 1997;201:49-4.
    20. Hofbeck M, Rauch R, Beinder E, Buheitel G, Leipold G, Rauch A, et al. Rate of prenatal detection of congenital right heart defects. Z Geburtsh Neonatol 1999;203:207-12.
    21. Hornberger LK, Sanders SP, Rein AJ, Spevak PJ, Parness IA, Colan SD. Left heart obstructive lesions and left ventricular growth in the midtrimester study. A longitudinal study. Circulation 1995;92:1531-538.
    22. Hornberger LK, Sanders SP, Sahn DJ, Rice MJ, Spevak PJ, Benacerraf BR, et al. In utero pulmonary artery and aortic growth and potential for progression of pulmonary outflow tract obstruction in tetralogy of Fallot. Am Coll Cardiol 1995;25:739-45. CrossRef
    23. Huhta J, Quintero RA, Suh E, Bader R. Advances in fetal cardiac intervention. Curr Opin Pediatr 2004;16:487-93. CrossRef
    24. Hyett J, Perdu M, Sharland G, Snijders R, Nicolaides KH. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-4 weeks of gestation: a population based cohort study. BMJ 1999;318:81-5.
    25. Kohl T, Sharland G, Allan LD, Gembruch U, Chaoui R, Lopes LM, et al. World experience of percutaneous ultrasound-guided balloon valvuloplasty in human fetuses with severe aortic valve obstruction. Am J Cardiol 2000;85:1230-233. CrossRef
    26. Kohl T. Fetal echocardiography: new grounds to explore during fetal cardiac intervention. Pediatr Cardiol 2002;23:334-46. CrossRef
    27. Maeno YV, Boutin C, Hornberger L, McCrindle BW, Cavalle-Garrido T, Gladman G, et al. Prenatal diagnosis of right ventricular outflow tract obstruction with intact ventricular septum and detection of ventriculocoronary connections. Heart 1999;81:661-68.
    28. Mahieu-Caputo D, Senat MV, Romana S, Houfflin-Debarge V, Gosset P, Audibert F, et al. What’s new in fetal medicine? Arch Pediatr 2002;9:172-86. CrossRef
    29. Mennicke K, Schwinger E. Genetic aspects of congential heart defects. Gyn?kologe 1997;30:181-89. CrossRef
    30. Meyer-Wittkopf M, Cooper S, Sholler G. Correlation between fetal cardiac diagnosis by obstetric and pediatric cardiologist sonographers and comparison with postnatal findings. Ultrasound Obstet Gynecol 2001;17:392-97. CrossRef
    31. Meyer-Wittkopf M, Hofbeck M. Two- and three-dimensional echocardiographic analysis of congenital heart disease in the fetus. Herz 2003;28:240-49. CrossRef
    32. Meyer-Wittkopf M. Interventional fetal cardiac therapy—possible perspectives and current shortcomings. Ultrasound Obstet Gynecol 2002;20:527-31. CrossRef
    33. Ott WJ. The accuracy of antenatal fetal echocardiography screening in high- and low-risk patients. Am J Obstet Gynecol 1995;172:1741-749. CrossRef
    34. Quintero RA, Shukla AR, Homsy YL, Bukkapatnam R. Successful in utero endoscopic ablation of posterior urethral valves: a new dimension in fetal urology. Urology 2000;55:774-74. CrossRef
    35. Raupach K, Zimmermann R. False diagnosis in prenatal sonography—analysis of causes and formulation of conclusions for the quality management of prenatal sonographic diagnostics. Ultraschall Med 2004;25:438-43. CrossRef
    36. Simpson JM, Sharland GK. Natural history and outcome of aortic stenosis diagnosed prenatally. Heart 1997;77:205-10. CrossRef
    37. Sun C, Grumbach K, DeCosta D, Meyers C, Dungan J. Correlation of prenatal ultrasound diagnosis and pathologic findings in fetal anomalies. Pediatr Dev Pathol 1999;2:131-42. CrossRef
    38. Surbek DV, Holzgreve W, Nicolaides KH. Hematopoietic stem cells transplantation and gene therapy in the fetus: ready for clinical use? Hum Reprod Update 2001;7:85-1. CrossRef
    39. Tennstedt C, Chaoui R, K?rner H, Dietel M. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study. Heart 1999;82:34-9.
    40. Tworetzky W, Marshall AC. Balloon valvuloplasty for congenital heart disease in the fetus. Clin Perinatol 2003;30:541-50. CrossRef
    41. Ursell PC, Byrne JM, Fears TR, Strobino BA, Gersony WM. Growth of the great vessels in the normal human fetus and in the fetus with cardiac defects. Circulation 1991;84:2028-033.
    42. Ville Y, Hecher K, Gagnon A, Sebire N, Hyett J, Nicolaides K. Endoscopic laser coagulation in the management of severe twin-to-twin transfusion syndrome. Br J Obstet Gynaecol 1998;105:446-53.
    43. Walsh DS, Adzick NS, Sutton LN, Johnson MP. The Rationale for in utero repair of myelomeningocele. Fetal Diagn Ther 2001;16:312-22. CrossRef
    44. Walsh DS, Adzick NS. Fetal surgical intervention. Am J Perinatol 2000;17:277-83. CrossRef
    45. Weber HS. Initial and late results after catheter intervention for neonatal critical pulmonary valve stenosis and atresia with intact ventricular septum: a technique in continual evolution. Catheter Cardiovasc Interv 2002;56:394-99. CrossRef
    46. Su ZK, Chen E. Fetal cardiac surgery—a big challenge in the 21st century. World J Pediatr 2008;4:5-. CrossRef
    47. Yagel S, Weissman A, Rotstein Z, Manor M, Hegesh J, Anteby E, et al. Congenital heart defects. Natural course and in utero development. Circulation 1997;96:550-55.
    48. Zimmermann R. The development of obstetric ultrasound in Switzerland. Gynakol Geburtshilfliche Rundsch 2005;45:73-7. CrossRef
  • 作者单位:Mathias Nelle (1)
    Luigi Raio (4)
    Mladen Pavlovic (2)
    Thierry Carrel (3)
    Daniel Surbek (4)
    Matthias Meyer-Wittkopf (4)

    1. Division of Neonatology, University Hospital Berne, Berne, Switzerland
    4. Department of Obstetrics and Gynecology, University Hospital Berne, Berne, Switzerland
    2. Division of Pediatric Cardiology, University Hospital Berne, Berne, Switzerland
    3. Department of Cardiac Surgery, University Hospital Berne, Berne, Switzerland
文摘
Background Newborns with hypoplastic left heart syndrome (HLHS) or right heart syndrome or other malformations with a single ventricle physiology and associated hypoplasia of the great arteries continue to be a challenge in terms of survival. The vast majority of these forms of congenital heart defects relate to abnormal morphogenesis during early intrauterine development and can be diagnosed accurately by fetal echocardiography. Early knowledge of these conditions not only permits a better understanding of the progression of these malformations but encourages some researchers to explore new minimally invasive therapeutic options with a view to early pre- and postnatal cardiac palliation. Data sources PubMed database was searched with terms of “congenital heart defects- “fetal echocardiography-and “neonatal cardiac surgery- Results At present, early prenatal detection has been applied for monitoring pregnancy to avoid intrauterine cardiac decompensation. In principle, the majority of congenital heart defects can be diagnosed by prenatal echocardiography and the detection rate is 85%-5% at tertiary perinatal centers. The majority, particularly of complex congenital lesions, show a steadily progressive course including subsequent secondary phenomena such as arrhythmias or myocardial insufficiency. So prenatal treatment of an abnormal fetus is an area of perinatal medicine that is undergoing a very dynamic development. Early postnatal treatment is established for some time, and prenatal intervention or palliation is at its best experimental stage in individual cases. Conclusion The upcoming expansion of fetal cardiac intervention to ameliorate critically progressive fetal lesions intensifies the need to address issues about the adequacy of technological assessment and patient selection as well as the morbidity of those who undergo these procedures.

© 2004-2018 中国地质图书馆版权所有 京ICP备05064691号 京公网安备11010802017129号

地址:北京市海淀区学院路29号 邮编:100083

电话:办公室:(+86 10)66554848;文献借阅、咨询服务、科技查新:66554700