Konjenital Diyafragma Hernisinde İntrauterin Tedavi
Özet
Konjenital diyafragma hernisi (KDH), diyafragma kasındaki gelişimsel kusur nedeniyle karın içi organların göğüs kafesine fıtıklaşması ve buna bağlı olarak akciğer gelişiminin bozulmasıyla karakterize bir malformasyondur. Gebelik döneminde ultrason ve MR ile tanı konulabilen bu durumda, özellikle ağır vakalarda akciğer gelişimini uyarmak amacıyla minimal invaziv bir yöntem olan FETO (fetoskopik endoluminal trakeal oklüzyon) işlemi uygulanmaktadır. TOTAL Trial çalışmasının sonuçlarına göre, FETO işlemi ciddi pulmoner hipoplazisi olan fetuslarda doğum sonrası sağ kalımı anlamlı düzeyde artırırken, orta dereceli vakalarda benzer bir üstünlük gösterilememiştir.
Congenital diaphragmatic hernia (CDH) is a malformation characterized by the herniation of abdominal organs into the chest cavity due to a developmental defect in the diaphragm muscle, leading to impaired lung development. While the condition is diagnosed prenatally via ultrasound and MRI, the FETO (fetoscopic endoluminal tracheal occlusion) procedure is a minimally invasive intervention used to stimulate lung growth, especially in severe cases. According to the results of the TOTAL Trial, FETO significantly improves postnatal survival in fetuses with severe pulmonary hypoplasia, although no such significant benefit was observed in moderate cases.
Referanslar
Allan DW, Greer JJ (1997) Pathogenesis of nitrofen-induced congenital diaphragmatichernia in fetal rats. J Appl Physiol 83(2):338–347. DOI: 10.1152/jappl.1997.83.2.338.
Harting MT, Lally KP (2014) The congenital diaphragmatic hernia study group registry update. Semin Fetal Neonatal Med 19:370–375. DOI: 10.1016/j.siny.2014.09.004.
Wenstrom KD, Weiner CP, Hanson JW. A five-year statewide experience with congenital diaphragmatic hernia. Am J Obstet Gynecol 1991;165:838-42. DOI: 10.1016/0002-9378(91)90425-q.
Langham Jr MR, Kays DW, Ledbetter DJ, et al. Congenital diaphragmatic hernia: epidemiology and outcome. Clin Perinatol 1996;23:671-88.
Shanmugam H, Brunelli L, Botto LD, et al. Epidemiology and prognosis of congenital diaphragmatic hernia: A population-based cohort study in Utah. Birth Defects Res. 2017;109(18):1451-1459. DOI: 10.1002/bdr2.1106.
Rygl M, Pycha K, Stranak Z, et al. Congenital diaphragmatic hernia: onset of respiratory distress and size of the defect. Pediatr Surg Int 2007;23:27-31. DOI: 10.1007/s00383-006-1788-3.
Claus F, Sandaite I, Dekoninck P, et al. Prenatal anatomical imaging in fetuses with congenital diaphragmatic hernia. Fetal Diagn Ther. 2011; 29: 88–100. DOI: 10.1159/000320605.
Harrison MR, Langer JC, Adzick NS, et al. Correction of congenital diaphragmatic hernia in utero, V. Initial clinical experience. J Pediatr Surg. 1990; 25: 47–55; discussion 56–7. DOI: 10.1016/s002-3468(05)80163-0.
Wilson JM, DiFiore JW, Peters CA. Experimental fetal tracheal ligation prevents the pulmonary hypoplasia associated with fetal nephrectomy: possible application for congenital diaphragmatic hernia. J Pediatr Surg. 1993; 28: 1433–9; discussion 1439-40. DOI: 10.1016/0022-3468(93)-I.
Hedrick MH, Estes JM, Sullivan KM, et al. Plug the lung until it grows (PLUG): a new method to treat congenitaldiaphragmatic hernia in utero. J Pediatr Surg. 1994; 29: 612–7. DOI: 10.1016/0022-3468(94)90724-2.
Deprest J, Gratacós E, Nicolaides KH, Group FT.scopic tracheal occlusion (FETO) for severe congenital diaphragmatic hernia: evolution of a technique and preliminary results. Ultrasound Obstet Gynecol. 2004; 24: 121–6. DOI: 10.1002/uog.1711.
Skandalakis, J. E., S. W. Gray, and R. R. Ricketts. (1994) .The diaphragm. J. Baltimore, MD ( Ed.), In: Embryology for Surgeons: Williams & Wilkins, chapt. 15, p. 491–539.
Gence A. , Prenatal tanı parametreleri ile konjenital diyafragma hernisinde sağkalım üzerinde öngörüde bulunabilir mi? Uzmanlık Tezi. TC Sağlık Bakanlığı Zeynep Kamil Kadın ve Çocuk Hastalıklar Hastanesi Çocuk Cerrahisi Kliniği, İstanbul, 2009.
Tovar AJ. Congenital diaphragmatic hernia. Orphanet J Rare Dis 2012;7:1.
Hout L, Sluiter I, Gischler S, et al. Can we improve outcome of congenital diaphragmatic hernia?. Pediatr Surg Int. 2009 September; 25(9): 733–743. DOI: 10.1007/s00383-009-2425-8.
Tibboel D, Gaag AV. Etiologic and genetic factors in congenital diaphragmatic hernia.Clin Perinatol 1996; 23:689–699.
Behrman RE, Jenson HB, Kliegman RM, (2000). Nelson textbook of pediatrics, 16th Benjamin DR, Juul S, Siebert JR (Ed.); pp. 1231–1234.
Keijzer R, Liu J, Deimling J, et al. Dual-hit hypoplasia in the nitrofen model of congenital diaphragmatic hernia. Am J Pathology 2000;156:1299-306. DOI: 10.1016/S0002-9440(10)65000-6.
Corbett HJ, Losty PD, (2000). Congenital diaphragmatic hernia. In Parikh DH, Crabbe DCG, Auldist AW, Rothenberg SS (Ed.), Pediatric thoracic surgery. Springer-Verlag London , pp. 483-99.
Claus F, Sandaite I, Dekoninck P, et al. (2011) Prenatal anatomical imaging in fetuses with congenital diaphragmatic hernia. Fetal Diagn Ther 29:88–100. DOI: 10.1159/000320605.
De Vore GR, Hovenstein J, Platt LD: Fetal echocardiography. Assessment of cardiothoracic disproportion – a new technique for the diagnosis of thoracic hypoplasia. Am J Obstet Gynecol 1986;155:1066–1071. DOI: 10.1016/0002-9378(86)90351-0.
Bargy F, Beaudoin S, Barbet P (2006): Fetal lung growth in congenital diaphragmatic hernia. Fetal Diagn Ther ;21:39–44. DOI: 10.1159/000089046.
Taylor GA, Atalabi OM, Estroff JA. Imaging of congenital diaphragmatic hernia. Pediatr Radiol 2009; 39:1. DOI: 10.1007/s00247-008-0917-7.
Graham G, Devine PC. Antenatal diagnosis of congenital diaphragmatic hernia. Semin Perinatol 2005; 29:69. DOI: 10.1053/j.semperi.2005.04.002.
Burgos CM, Frenckner B, Luco M, et al. Prenatally versus postnatally diagnosed congenital diaphragmatic hernia – Side, stage, and outcome. J Pediatr Surg 2019; 54:651. DOI: 10.1016/j.jpedsurg.2018.04.008.
Prasad, R.. “Congenital Diaphragmatic Hernia: A Major Challenge for Neonatologists.” (2020).
Graham G, Devine PC. Antenatal diagnosis of congenital diaphragmatic hernia. Semin. Perinatol. 2005; 29(2): 69–76. DOI: 10.1053/j.semperi.2005.04.002.
Pober BR. Genetic aspects of human congenital diaphragmatic hernia. Clin. Genet. 2008; 74(1): 1–15. DOI: 10.1111/j.1399-0004.2008.01031.x.
Skari H, Bjornland K, Haugen T, et al. Congenital diaphrag- matic hernia: a meta-analysis of mortality factors. J Pediatr Surg 2000; 35: 1187–97. DOI: 10.1053/jpsu.2000.8725.
Jeanty C, Nien JK, Espinoza J, et al. Pleural and pericardial effusion: a potential ultrasonographic marker for the prenatal differential diagnosis between con- genital diaphragmatic eventration and con- genital diaphragmatic hernia. Ultrasound Obstet Gynecol 2007;29:378–387. DOI: 10.1002/uog.3958.
Graham G, Devine PC: Antenatal diagnosis of congenital diaphragmatic hernia. Semin Perinatol 2005;29:69–76. DOI: 10.1053/j.semperi.2005.04.002.
Bargy F, Beaudoin S, Barbet P. Fetal lung growth in congenital diaphragmatic hernia. Fetal Diagn Ther 2006;21:39e44. DOI: 10.1159/000089046.
Metkus AP, Filly RA, Stringer MD, et al. Sonographic predictors of survival in fetal diaphragmatic hernia. J Pediatr Surg 1996;31: 148e51. discussion 151e42.DOI: 10.1016/s0022-3468(96)90338-3.
Jani JC, Peralta CF, Nicolaides KH. Lung-to-head ratio: a need to unify the technique. Ultrasound Obstet Gynecol 2012; 39:2–6. DOI: 10.1002/uog.11065.
Peralta CF, Cavoretto p, Csapo B, et al. Assesment of lung area in normal fetuses at 12-32 weeks. Ultrasound Obstet Gynecol 2005; 26:718. DOI: 10.1002/uog.2651.
Britto IS, Araujo Júnior E, Sangi-Haghpeykar H, et al. Reference ranges for 2-dimensional sonographic lung measurements in healthy fetuses: a longitudinal study. J Ultrasound Med 2014; 33:1917–1923. DOI: 10.7863/ultra.33.11.1917.
Gucciardo L, Deprest J, Done E, et al. Prediction of outcome in isolated congenital diaphragmatic hernia and its consequences for fetal therapy. Best Pract Res Clin Obstet Gynaecol 2008;22(1):123–38. DOI: 10.1016/j.bpobgyn.2007.08.006.
Jani JC, Benachi A, Nicolaides KH, et al. Prenatal prediction of neonatal morbidity in survivors with congenital diaphragmatic hernia: a multicenter study. Ultrasound Obstet Gynecol 2009; 33:64. DOI: 10.1002/uog.6141.
Jani J, Nicolaides KH, Keller RJ, et al. Observed to expected lung area to head circumference ratio in the prediction of survival in fetuses with isolated diaphragmatic hernia. Ultrasound Obstet Gynecol 2007;30:67–71. DOI:10.1002/uog.4052.
Harrison MR, Adzick NS, Bullard KM, et al. Correction of CDH in utero. VII. A prospective trial. J Pediatr Surg 1997;32:1637 - 42. DOI: 10.1016/s0022-3468(97)90472-3.
Oepkes D, Teunissen AK, Van de Velde M. Congenital high airway obstruction syndrome successfully treated with ex utero intrapartum treatment. Ultrasound Obstet Gynaecol 2003;22:437-9. DOI: 10.1002/uog.899.
Di Fiore JW, Fauza DO, Slavin R, et al. Experimental fetal tracheal ligation reverses the structural and physiological effects of pulmonary hypoplasia in CDH. J Pediatr Surg 1997;29:248 - 56. DOI: 10.1016/0022-3468(994)90328-x
Deprest J. Towards an endoscopic intra-uterine treatment for congenital diaphragmatic hernia. Verth K Acad Geneeskd 2002;49: 55-70.
Wu J, Ge X, Verbeken E, et al. In utero tracheal occlusion at different gestational age has different pulmonary effects in a rabbit model of diaphragmatic hernia. J Pediatr Surg 2002;37:11-7.
Sylvester KG, Rasanen J, Kitano Y, et al. Tracheal occlusion reverses the high impedance to flow in the fetal pulmonary circulation and it normalizes its physiological response to oxygen at full term. J Pediatr Surg 1998;33:1071-5. DOI:10.1016/s0022-3468(98)90533-4.
Davey MG, Hedrick HL, Bouchard S, et al. Temporary tracheal occlusion in fetal sheep with lung hypoplasia does not improve postnatal lung function. J Appl Physiol 2003;94:1054 - 62.
Bratu I, Flageole H, Laberge JM, et al. Lung function in lambs with diaphragmatic hernia after reversible fetal tracheal occlusion.J Pediatr Surg 2004 ; 39 : 1524-31 . DOI: 10.1016/j.jpedsurg.2004.06.024.
Deprest J, Evrard V, Verbeken E, et al. Tracheal side effects of endoscopic balloon tracheal occlusion in the fetal lamb model. Eur J Obstet Gynecol Reprod Biol 2000;92:119 - 26. DOI: 10.1016/s0301-2115(00)00435-8.
Quintero RA, Morales WJ, Bornick PW, et al. Minimally invasive intraluminal tracheal occlusion in a human fetus with left congenital diaphragmatic hernia at 27 weeks gestation via direct fetal laryngos- copy. Prenat Neonat Med 2000;5:134 - 40.
Deprest J, Gratacos E, Nicolaides KH, et al. on behalf of the FETO task group. Fetoscopic tracheal occlusion (FETO) for severe congenital diaphragmatic hernia: evolution of a technique. Ultrasound Obstet Gynaecol 2004; 24:121-6. DOI: 10.1002/uog.1711.
Harrison MR, Adzick NS, Longaker MT, et al. Successful repair in utero of a fetal diaphragmatic hernia after removal of herniated viscera from the left thorax. N Engl J Med 1990;322:1582-4. DOI: 10.1056/NEJM199005313222207.
Carmel JA, Friedman F, Adams FH. Fetal tracheal ligation and lung development. Am J Dis Child 1965;109:452-6. DOI: 10.1001/archpedi.1965.02090020454014.
Harrison MR, Jester JA, Ross NA (1980) Correction of congenital diaphragmatic hernia in utero. I. The model: intrathoracic balloon produces fatal pulmonary hypoplasia. Surgery 88(1):174–182
Haller JA Jr et al (1976) Pulmonary and ductal hemodynamics in studies of simulated diaphragmatic hernia of fetal and newborn lambs. J Pediatr Surg 11(5):675–680. DOI: 10.1016/0022-3468(76)90089-0.
Harrison MR et al (1980) Correction of congenital diaphragmatic hernia in utero. II. Simulated correction permits fetal lung growth with survival at birth. Surgery 88(2):260–268.
Harrison MR et al (1996) Correction of congenital diaphrag- matic hernia in utero VIII: response of the hypoplastic lung to tracheal occlusion. J Pediatr Surg 31(10):1339–1348. DOI:10.1016/s0022-3468(96)90824-6.
Mychaliska GB et al (1997) Operating on placental support: the ex utero intrapartum treatment procedure. J Pediatr Surg 32(2):227–230. DOI: 10.1016/s0022-3468(97)90184-6.
Harrison MR et al (2001) Fetoscopic temporary tracheal occlusion by means of detachable balloon for congenital diaphragmatic hernia. Am J Obstet Gynecol 185(3):730–733. DOI: 10.1067/mob.2011.117344.
Chiba T et al (2000) Balloon tracheal occlusion for congeni- tal diaphragmatic hernia: experimental studies. J Pediatr Surg 35(11):1566–1570. DOI: 10.1053/jpsu.2000.18311.
Skarsgard ED, Meuli M, VanderWall KJ, et al. Fetal endoscopic tracheal occlusion ('Fetendo-PLUG') for congenital diaphragmatic hernia. J Pediatr Surg 1996;31:1335-8. DOI: 10.1016/s0022-3468(96)90823-4.
Longaker MT et al (1991) Maternal outcome after open fetal surgery. A review of the first 17 human cases. Jama 265(6):737–741.
Harrison MR et al (1998) Correction of congenital diaphrag- matic hernia in utero IX: fetuses with poor prognosis (liver her- niation and low lung-to-head ratio) can be saved by fetoscopic temporary tracheal occlusion. J Pediatr Surg 33(7):1017–1022. DOI: 10.1016/s0022-3468(98)90524-3.
Flake AW et al (2000) Treatment of severe congenital diaphrag- matic hernia by fetal tracheal occlusion: clinical experience with fteen cases. Am J Obstet Gynecol 183(5):1059–1066. DOI: 10.1067/mob.2000.108871.
Flageole H, Evrard V, Piedboeuf B, et al. The plug-unplug sequence: an important step to achieve type II pneumocyte maturation in the fetal lamb model. J Pediatr Surg 1998;33:299-303. DOI: 10.1016/s0022-3468(98)90451-1.
Nelson SM, Hajivassiliou CA, Haddock G, et al. Rescue of the hypoplastic lung by prenatal cyclical strain. Am J Respir Crit Care Med 2005;171:1395-402. DOI: 10.1164/rccm.200409-128OC.
Evrard VA, Flageole H, Deprest JA, et al. Intrauterine tracheal obstruction, a new treatment for congenital diaphragmatic hernia, decreases amniotic uid sodium and chloride concentrations in the fetal lamb. Ann Surg 1997;226:753-8. DOI: 10.1097/00000658-199712000-00012.
Flageole H, Evrard VA, Vandenberghe K, et al. Tracheoscopic endotracheal occlusion in the ovine model: technique and pulmonary effects. J Pediatr Surg 1997;32:1328-31. DOI: 10.1016/s0022-3468(97)90314-6.
De Lia JE, Cruikshank DP, Keye WR Jr (1990) Fetoscopic neodymium: YAG laser occlusion of placental vessels in severe twin–twin transfusion syndrome. Obstet Gynecol 75(6):1046–1053.
Ville Y et al (1995) Preliminary experience with endoscopic laser surgery for severe twin–twin transfusion syndrome. N Engl J Med 332(4):224–227. DOI: 10.1056/NEJM199501263320404.
Deprest J, Gratacos E, Nicolaides KH (2004) Fetoscopic tracheal occlusion (FETO) for severe congenital diaphragmatic hernia: evolution of a technique and preliminary results. Ultra- sound Obstet Gynecol 24(2):121–126. DOI: 10.1002/uog.1711.
Deprest J et al (2005) Fetal intervention for congenital dia- phragmatic hernia: the European experience. Semin Perinatol 29(2):94–103. DOI: 10.1053/j.semperi.2005.04.006.
Jan Deprest, Jaques Jani, Dmonique Van Schoubroeck et al (2006) Current consequences of prenatal diagnosis of congenital diaphragmatic hernia, J Pediatr Surg 41, 423-430. DOI: 10.1016/j.jpedsurg.2005.11.036.
Jani JC et al (2009) Severe diaphragmatic hernia treated by fetal endoscopic tracheal occlusion. Ultrasound Obstet Gynecol 34(3):304–310. DOI: 10.1002/uog.6450.
Reiss I, Schaible T, van den Hout L, et al. Standardized postnatal management of infants with congenital diaphragmatic hernia in Europe: the CDH EURO Consortium consensus. Neonatology 2010;98:354e64. DOI: 10.1159/000320622.
Cole, F. Sessions. "Fetal Tracheal Occlusion for Congenital Diaphragmatic Hernia." (2021): 177-178. DOI: 10.1056/NEJMe2107446.
Deprest JA, Benachi A, Gratacos E, et al. Randomized trial of fetal surgery for moderate left diaphragmatic hernia. N Engl J Med. DOI: 10.1056/NEJMoa2026983.
Deprest JA, Nicolaides KH, Benachi A, et al. Randomized trial of fetal surgery for severe left diaphragmatic hernia. N Engl J Med. DOI: 10.1056/NEJMoa2027030.
Dekoninck P, Gratacos E, Van Mieghem T, et al. Results of fetal endoscopic tracheal occlusion for congenital diaphragmatic hernia and the set up of the randomized controlled TOTAL trial. Early Hum Dev 2011;87:619-624. DOI: 10.1016/j.earlhumdev.2011.08.001.
Bancalari E, Claure N. Definitions and diagnostic criteria for bronchopul- monary dysplasia. Semin Perinatol 2006; 30:164-70. DOI: 10.1053/j.semperi.2006.05.002.
Adaikalam SA, Higano NS, Tkach JA, et al. Neonatal lung growth in congenital diaphragmatic hernia: evaluation of lung density and mass by pulmonary MRI. Pediatr Res 2019;86:635-40. DOI: 10.1038/s41390-019-0480-y.
Khan AA, Furey EA, Bailey AA, et al. Fetal liver and lung volume index of neonatal survival with congenital diaphragmat- ic hernia. Pediatr Radiol 2021 March 29. DOI:10.1007/s00247-021-05049-0.
