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Antenatal Diagnosis: Current Status for Paediatric Surgeons

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Rickham's Neonatal Surgery

Abstract

In this chapter we review antenatal diagnosis and obstetric management of fetal conditions that are relevant to paediatric surgeons. We restrict our discussion to fetal conditions that have been shown to, or have the potential to, benefit from in utero surgical therapy.

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References

  1. Gilmore, L., et al., Arginine functionalization of hydrogels for heparin binding-a supramolecular approach to developing a pro-angiogenic biomaterial. Biotechnol Bioeng, 2012.

    Google Scholar 

  2. Altman D, et al. Anterior colporrhaphy versus transvaginal mesh for pelvic-organ prolapse. N Engl J Med. 2011;364(19):1826–36.

    Article  CAS  PubMed  Google Scholar 

  3. Falcon O, et al. Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free beta-hCG and PAPP-A at 11 + 0 to 13 + 6 weeks. Ultrasound Obstet Gynecol. 2006;27(2):151–5.

    Article  CAS  PubMed  Google Scholar 

  4. Stanford E, Moen M, Cassidenti A. Traditional native tissue vs mesh-augmented pelvic organ prolapse repairs: providing an accurate interpretation of current literature. Reply. Int Urogynecol J. 2012;23(9):1319–20.

    Article  Google Scholar 

  5. Dane B, et al. Ultrasound screening for fetal major abnormalities at 11–14 weeks. Acta Obstet Gynecol Scand. 2007;86(6):666–70.

    Article  PubMed  Google Scholar 

  6. Shepherd JP, et al. Uniaxial biomechanical properties of seven different vaginally implanted meshes for pelvic organ prolapse. Int Urogynecol J. 2012;23(5):613–20.

    Article  PubMed  Google Scholar 

  7. Hodges RJ, Wallace EM. Testing for Down syndrome in the older woman: a risky business? Aust N Z J Obstet Gynaecol. 2005;45(6):486–8.

    Article  PubMed  Google Scholar 

  8. Morris JK, Waters JJ, de Souza E, The population impact of screening for Down syndrome. audit of 19 326 invasive diagnostic tests in England and Wales in. Prenat Diagn. 2008;32(6):596–601.

    Article  Google Scholar 

  9. Lose G, Gras S. While we wait for a new regulatory framework for surgical mesh. Int Urogynecol J. 2012;23(8):969–70.

    Article  PubMed  Google Scholar 

  10. Hillman, S.C., et al. Microarray comparative genomic hybridization in prenatal diagnosis: a review. Ultrasound Obstet Gynecol. 2012;40(4):385–91.

    Article  CAS  Google Scholar 

  11. Harrison MR, Adzick NS. The fetus as a patient. Surgical considerations. Ann Surg. 1991;213(4):279–91. discussion 277–8

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Deprest JA, et al. Fetal surgery is a clinical reality. Semin Fetal Neonatal Med. 2010;15(1):58–67.

    Article  PubMed  Google Scholar 

  13. Senat MV, et al. Endoscopic laser surgery versus serial amnioreduction for severe twin-to-twin transfusion syndrome. N Engl J Med. 2004;351(2):136–44.

    Article  CAS  PubMed  Google Scholar 

  14. Adzick NS, et al. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med. 2011;364(11):993–1004.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Harrison MR, et al. A randomized trial of fetal endoscopic tracheal occlusion for severe fetal congenital diaphragmatic hernia. N Engl J Med. 2003;349(20):1916–24.

    Article  CAS  PubMed  Google Scholar 

  16. Rodrigues HC, Deprest J, v d Berg PP. When referring physicians and researchers disagree on equipoise: the TOTAL trial experience. Prenat Diagn. 2011;31(6):589–94.

    Article  CAS  PubMed  Google Scholar 

  17. Kilby M, et al. PLUTO trial protocol: percutaneous shunting for lower urinary tract obstruction randomised controlled trial. BJOG. 2007;114(7):904–5. e1–4

    Article  PubMed  Google Scholar 

  18. Creasy RKR, Iams R, Lockwood JD, Moore CJ, Creasy TR. Resnik’s maternal-fetal medicine. Principles and practice, 6th edn. Invasive fetal therapy. Philadelphia: Saunders Elsevier; 2009.

    Google Scholar 

  19. Anumba DO, et al. Diagnosis and outcome of fetal lower urinary tract obstruction in the northern region of England. Prenat Diagn. 2005;25(1):7–13.

    Article  PubMed  Google Scholar 

  20. Feist, A., et al., Increased incidence of cutaneous squamous cell carcinoma in lung transplant recipients taking long-term voriconazole. J Heart Lung Transplant, 2012.

    Google Scholar 

  21. Escamilla J, Lane MA, Maitin V. Cell-free supernatants from probiotic Lactobacillus casei and Lactobacillus rhamnosus GG decrease colon cancer cell invasion in vitro. Nutr Cancer. 2012;64(6):871–8.

    Article  CAS  PubMed  Google Scholar 

  22. Wondergem B, et al. Expression of the PTTG1 oncogene is associated with aggressive clear cell renal cell carcinoma. Cancer Res. 2012;72(17):4361–71.

    Article  CAS  PubMed  Google Scholar 

  23. Lor KW, et al. Plerixafor as first- and second-line strategies for autologous stem cell mobilization in patients with non-Hodgkin’s lymphoma or multiple myeloma. Pharmacotherapy. 2012;32(7):596–603.

    Article  CAS  PubMed  Google Scholar 

  24. Weigert O, et al. Molecular ontogeny of donor-derived follicular lymphomas occurring after hematopoietic cell transplantation. Cancer Discov. 2012;2(1):47–55.

    Article  PubMed  Google Scholar 

  25. Muller, P.A., et al., Mutant p53 enhances MET trafficking and signalling to drive cell scattering and invasion. Oncogene, 2012.

    Google Scholar 

  26. Ng YZ, et al. Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res. 2012;72(14):3522–34.

    Article  CAS  PubMed  Google Scholar 

  27. Weinger, J.G., et al., MHC Mismatch Results in Neural Progenitor Cell Rejection Following Spinal Cord Transplantation in a Model of Viral-Induced Demyelination. Stem Cells, 2012.

    Google Scholar 

  28. Thobakgale CF, et al. Frequent and strong antibody-mediated natural killer cell activation in response to HIV-1 Env in individuals with chronic HIV-1 infection. J Virol. 2012;86(12):6986–93.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Tang QQ, Lane MD. Adipogenesis: from stem cell to adipocyte. Annu Rev Biochem. 2012;81:715–36.

    Article  CAS  PubMed  Google Scholar 

  30. Styles L, et al. Refining the value of secretory phospholipase A2 as a predictor of acute chest syndrome in sickle cell disease: results of a feasibility study (PROACTIVE). Br J Haematol. 2012;157(5):627–36.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  31. Roberts NA, et al. Rank signaling links the development of invariant gammadelta T cell progenitors and Aire(+) medullary epithelium. Immunity. 2012;36(3):427–37.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Johnson MP, et al. Sequential urinalysis improves evaluation of fetal renal function in obstructive uropathy. Am J Obstet Gynecol. 1995;173(1):59–65.

    Article  CAS  PubMed  Google Scholar 

  33. Morris RK, et al. Systematic review of accuracy of fetal urine analysis to predict poor postnatal renal function in cases of congenital urinary tract obstruction. Prenat Diagn. 2007;27(10):900–11.

    Article  CAS  PubMed  Google Scholar 

  34. Lane LV, et al. Pathology in practice. Nonepitheliotropic B-cell lymphoma of the nasal cavity with associated suppurative rhinitis and epidermal ulceration and lymphoma of the right kidney. J Am Vet Med Assoc. 2012;240(6):677–9.

    Article  PubMed  Google Scholar 

  35. Soghoian, D.Z., et al., HIV-specific cytolytic CD4 T cell responses during acute HIV infection predict disease outcome. Sci Transl Med. 2012;4(123):123ra25.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  36. Menkhorst EM, et al. Decidual-secreted factors alter invasive trophoblast membrane and secreted proteins implying a role for decidual cell regulation of placentation. PLoS One. 2012;7(2):e31418.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  37. Campbell JM, et al. Insulin Increases epiblast cell number of in vitro cultured mouse embryos via the PI3K/GSK3/p53 pathway. Stem Cells Dev. 2012;21(13):2430–41.

    Article  CAS  PubMed  Google Scholar 

  38. Levy Y, et al. Effect of intermittent interleukin-2 therapy on CD4+ T-cell counts following antiretroviral cessation in patients with HIV. AIDS. 2012;26(6):711–20.

    Article  CAS  PubMed  Google Scholar 

  39. Morris RK, et al. Systematic review of the effectiveness of antenatal intervention for the treatment of congenital lower urinary tract obstruction. BJOG. 2010;117(4):382–90.

    Article  CAS  PubMed  Google Scholar 

  40. Lane JT. Does the fat cell have something to say to the platelet about keeping thrombosis in check in diabetes? Transl Res. 2012;159(1):12–4.

    Article  PubMed  Google Scholar 

  41. Lane AA, et al. Risk factors for development of pneumonitis after high-dose chemotherapy with cyclophosphamide, BCNU and etoposide followed by autologous stem cell transplant. Leuk Lymphoma. 2012;53(6):1130–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  42. Morris RK, et al. Percutaneous vesicoamniotic shunting versus conservative management for fetal lower urinary tract obstruction (PLUTO): a randomised trial. Lancet. 2013;382(9903):1496–506.

    Article  PubMed  PubMed Central  Google Scholar 

  43. Ruano R, et al. Early fetal cystoscopy for first-trimester severe megacystis. Ultrasound Obstet Gynecol. 2011;37(6):696–701.

    Article  CAS  PubMed  Google Scholar 

  44. Morris RK, Ruano R, Kilby MD. Effectiveness of fetal cystoscopy as a diagnostic and therapeutic intervention for lower urinary tract obstruction: a systematic review. Ultrasound Obstet Gynecol. 2011;37(6):629–37.

    Article  CAS  PubMed  Google Scholar 

  45. Partridge, E.A. and A.W. Flake, Maternal-fetal surgery for structural malformations. Best Pract Res Clin Obstet Gynaecol. 2012;26(5):669–82.

    Article  Google Scholar 

  46. Schropp KP, et al. Sacrococcygeal teratoma: the experience of four decades. J Pediatr Surg. 1992;27(8):1075–8; discussion 1078–9

    Article  CAS  PubMed  Google Scholar 

  47. Altman RP, Randolph JG, Lilly JR. Sacrococcygeal teratoma: American Academy of Pediatrics Surgical Section Survey-1973. J Pediatr Surg. 1974;9(3):389–98.

    Article  CAS  PubMed  Google Scholar 

  48. Nygaard I, et al. Summary of research recommendations from the Inaugural American Urogynecologic Society Research Summit. Female Pelvic Med Reconstr Surg. 2011;17(1):4–7.

    Article  PubMed  Google Scholar 

  49. Feola A, et al. Impact of pregnancy and vaginal delivery on the passive and active mechanics of the rat vagina. Ann Biomed Eng. 2011;39(1):549–58.

    Article  PubMed  Google Scholar 

  50. Yamaguchi Y, et al. Spontaneous rupture of sacrococcygeal teratoma associated with acute fetal anemia. Ultrasound Obstet Gynecol. 2006;28(5):720–2.

    Article  CAS  PubMed  Google Scholar 

  51. Olutoye OO, et al. Abnormal umbilical cord Dopplers may predict impending demise in fetuses with sacrococcygeal teratoma. A report of 2 cases. Fetal Diagn Ther. 2003;18(6):428–31.

    Article  PubMed  Google Scholar 

  52. Higgins, E.W., et al., Effect of estrogen replacement on the histologic response to polypropylene mesh implanted in the rabbit vagina model. Am J Obstet Gynecol. 2009;201(5):505 e1–9.

    Article  CAS  Google Scholar 

  53. Flake AW, et al. Fetal sacrococcygeal teratoma. J Pediatr Surg. 1986;21(7):563–6.

    Article  CAS  PubMed  Google Scholar 

  54. Bond SJ, et al. Death due to high-output cardiac failure in fetal sacrococcygeal teratoma. J Pediatr Surg. 1990;25(12):1287–91.

    Article  CAS  PubMed  Google Scholar 

  55. Pierce, L.M., et al. Biomechanical properties of synthetic and biologic graft materials following long-term implantation in the rabbit abdomen and vagina. Am J Obstet Gynecol. 2009;200(5):549 e1–8.

    Google Scholar 

  56. Letouzey, V., et al., Is degradable antibiotic coating for synthetic meshes provide protection against experimental animal infection after fascia repair?. J Biomed Mater Res B Appl Biomater, 2011.

    Google Scholar 

  57. Hedrick HL, et al. Sacrococcygeal teratoma: prenatal assessment, fetal intervention, and outcome. J Pediatr Surg. 2004;39(3):430–8. discussion 430–8

    Article  PubMed  Google Scholar 

  58. Wilson RD, et al. Sacrococcygeal teratomas: prenatal surveillance, growth and pregnancy outcome. Fetal Diagn Ther. 2009;25(1):15–20.

    Article  PubMed  Google Scholar 

  59. Westerburg B, et al. Sonographic prognostic factors in fetuses with sacrococcygeal teratoma. J Pediatr Surg. 2000;35(2):322–5. discussion 325–6

    Article  CAS  PubMed  Google Scholar 

  60. Benachi A, et al. Prenatally diagnosed sacrococcygeal teratoma: a prognostic classification. J Pediatr Surg. 2006;41(9):1517–21.

    Article  PubMed  Google Scholar 

  61. Makin EC, et al. Outcome of antenatally diagnosed sacrococcygeal teratomas: single-center experience (1993–2004). J Pediatr Surg. 2006;41(2):388–93.

    Article  PubMed  Google Scholar 

  62. Rodriguez MA, et al. Tumor volume to fetal weight ratio as an early prognostic classification for fetal sacrococcygeal teratoma. J Pediatr Surg. 2011;46(6):1182–5.

    Article  PubMed  Google Scholar 

  63. Mari G. Middle cerebral artery peak systolic velocity: is it the standard of care for the diagnosis of fetal anemia? J Ultrasound Med. 2005;24(5):697–702.

    Article  PubMed  Google Scholar 

  64. Jouannic JM, et al. Successful intrauterine shunting of a sacrococcygeal teratoma (SCT) causing fetal bladder obstruction. Prenat Diagn. 2001;21(10):824–6.

    Article  CAS  PubMed  Google Scholar 

  65. Stutchfield P, Whitaker R, Russell I. Antenatal betamethasone and incidence of neonatal respiratory distress after elective caesarean section: pragmatic randomised trial. BMJ. 2005;331(7518):662.

    Article  PubMed  PubMed Central  Google Scholar 

  66. Subramanian D, et al. Rate, type, and cost of pelvic organ prolapse surgery in Germany, France, and England. Eur J Obstet Gynecol Reprod Biol. 2009;144(2):177–81.

    Article  PubMed  Google Scholar 

  67. Hoehn T, et al. Fatal rupture of a sacrococcygeal teratoma during delivery. J Perinatol. 1999;19(8 Pt 1):596–8.

    Article  CAS  PubMed  Google Scholar 

  68. Kotecha S, et al. Antenatal and postnatal management of congenital cystic adenomatoid malformation. Paediatr Respir Rev. 2012;13(3):162–71.

    Article  CAS  PubMed  Google Scholar 

  69. Garne E, et al. EUROCAT website data on prenatal detection rates of congenital anomalies. J Med Screen. 2010;17(2):97–8.

    Article  PubMed  Google Scholar 

  70. Stocker JT, Madewell JE, Drake RM. Congenital cystic adenomatoid malformation of the lung. Classification and morphologic spectrum. Hum Pathol. 1977;8(2):155–71.

    Article  CAS  PubMed  Google Scholar 

  71. Chen CC, Ridgeway B, Paraiso MF. Biologic grafts and synthetic meshes in pelvic reconstructive surgery. Clin Obstet Gynecol. 2007;50(2):383–411.

    Article  PubMed  Google Scholar 

  72. Langston C. New concepts in the pathology of congenital lung malformations. Semin Pediatr Surg. 2003;12(1):17–37.

    Article  PubMed  Google Scholar 

  73. Hernanz-Schulman M, et al. Pulmonary sequestration: diagnosis with color Doppler sonography and a new theory of associated hydrothorax. Radiology. 1991;180(3):817–21.

    Article  CAS  PubMed  Google Scholar 

  74. Adzick NS, et al. Fetal lung lesions: management and outcome. Am J Obstet Gynecol. 1998;179(4):884–9.

    Article  CAS  PubMed  Google Scholar 

  75. Stocker J. Congenital pulmonary airway malformation: a new name and an expanded classification of congenital cystic adenomatoid malformation of the lung. Histopathology. 2002;41:424–31.

    Google Scholar 

  76. Adzick NS. Management of fetal lung lesions. Clin Perinatol. 2003;30(3):481–92.

    Article  PubMed  Google Scholar 

  77. Hubbard AM, et al. Congenital chest lesions: diagnosis and characterization with prenatal MR imaging. Radiology. 1999;212(1):43–8.

    Article  CAS  PubMed  Google Scholar 

  78. Crombleholme TM, et al. Cystic adenomatoid malformation volume ratio predicts outcome in prenatally diagnosed cystic adenomatoid malformation of the lung. J Pediatr Surg. 2002;37(3):331–8.

    Article  PubMed  Google Scholar 

  79. Knox EM, et al. In-utero pulmonary drainage in the management of primary hydrothorax and congenital cystic lung lesion: a systematic review. Ultrasound Obstet Gynecol. 2006;28(5):726–34.

    Article  CAS  PubMed  Google Scholar 

  80. Wilson RD, et al. Cystic adenomatoid malformation of the lung: review of genetics, prenatal diagnosis, and in utero treatment. Am J Med Genet A. 2006;140(2):151–5.

    Article  PubMed  Google Scholar 

  81. Witlox RS, Lopriore E, Oepkes D. Prenatal interventions for fetal lung lesions. Prenat Diagn. 2011;31(7):628–36.

    Article  PubMed  Google Scholar 

  82. Merchant AM, et al. Postnatal chest wall deformities after fetal thoracoamniotic shunting for congenital cystic adenomatoid malformation. Fetal Diagn Ther. 2007;22(6):435–9.

    Article  PubMed  Google Scholar 

  83. Tsao K, et al. Resolution of hydrops fetalis in congenital cystic adenomatoid malformation after prenatal steroid therapy. J Pediatr Surg. 2003;38(3):508–10.

    Article  PubMed  Google Scholar 

  84. Peranteau WH, et al. Effect of maternal betamethasone administration on prenatal congenital cystic adenomatoid malformation growth and fetal survival. Fetal Diagn Ther. 2007;22(5):365–71.

    Article  PubMed  Google Scholar 

  85. Curran PF, et al. Prenatal steroids for microcystic congenital cystic adenomatoid malformations. J Pediatr Surg. 2010;45(1):145–50.

    Article  PubMed  Google Scholar 

  86. Bermudez C, et al. Percutaneous ultrasound-guided sclerotherapy for complicated fetal intralobar bronchopulmonary sequestration. Ultrasound Obstet Gynecol. 2007;29(5):586–9.

    Article  CAS  PubMed  Google Scholar 

  87. Oepkes D, et al. Successful ultrasound-guided laser treatment of fetal hydrops caused by pulmonary sequestration. Ultrasound Obstet Gynecol. 2007;29(4):457–9.

    Article  CAS  PubMed  Google Scholar 

  88. Ruano, R., et al. Percutaneous laser ablation under ultrasound guidance for fetal hyperechogenic microcystic lung lesions with hydrops: a single center cohort and a literature review. Prenat Diagn. 2012;32(12):1127–32.

    Article  PubMed  Google Scholar 

  89. Baud D, et al. Minimally invasive fetal therapy for hydropic lung masses: three different approaches and review of the literature. Ultrasound Obstet Gynecol. 2013;42(4):440–8.

    CAS  PubMed  Google Scholar 

  90. Ruano R, et al. Prenatal diagnosis and natural history of fetuses presenting with pleural effusion. Prenat Diagn. 2011;31(5):496–9.

    Article  PubMed  Google Scholar 

  91. Su KC, et al. Abdominovaginal sacral colpoperineopexy: patient perceptions, anatomical outcomes, and graft erosions. Int Urogynecol J Pelvic Floor Dysfunct. 2007;18(5):503–11.

    Article  PubMed  Google Scholar 

  92. Gainey HL. Postpartum observation of pelvic tissue damage: further studies. Am J Obstet Gynecol. 1955;70(4):800–7.

    Article  CAS  PubMed  Google Scholar 

  93. Bigras JL, et al. Echocardiographic evaluation of fetal hydrothorax: the effusion ratio as a diagnostic tool. Ultrasound Obstet Gynecol. 2003;21(1):37–40.

    Article  PubMed  Google Scholar 

  94. Chang J, et al. Port insertion and removal techniques to minimize premature rupture of the membranes in endoscopic fetal surgery. J Pediatr Surg. 2006;41(5):905–9.

    Article  PubMed  Google Scholar 

  95. Handa VL, et al. Pelvic floor disorders 5–10 years after vaginal or cesarean childbirth. Obstet Gynecol. 2011;118(4):777–84.

    Article  PubMed  PubMed Central  Google Scholar 

  96. Longaker MT, et al. Primary fetal hydrothorax: natural history and management. J Pediatr Surg. 1989;24(6):573–6.

    Article  CAS  PubMed  Google Scholar 

  97. Yinon, Y., et al., Perinatal outcome following fetal chest shunt insertion for pleural effusion. Ultrasound Obstet Gynecol. 2010;36(1):58–64.

    Article  Google Scholar 

  98. Ruano, R., et al., Three-dimensional ultrasonographic assessment of fetal total lung volume as a prognostic factor in primary pleural effusion. J Ultrasound Med. 2012;31(11):1731–9.

    Article  PubMed  Google Scholar 

  99. Rustico MA, et al. Fetal pleural effusion. Prenat Diagn. 2007;27(9):793–9.

    Article  PubMed  Google Scholar 

  100. Tanemura M, et al. A case of successful fetal therapy for congenital chylothorax by intrapleural injection of OK-432. Ultrasound Obstet Gynecol. 2001;18(4):371–5.

    CAS  PubMed  Google Scholar 

  101. Deurloo KL, et al. Isolated fetal hydrothorax with hydrops: a systematic review of prenatal treatment options. Prenat Diagn. 2007;27(10):893–9.

    Article  CAS  PubMed  Google Scholar 

  102. Picone O, et al. Thoracoamniotic shunting for fetal pleural effusions with hydrops. Am J Obstet Gynecol. 2004;191(6):2047–50.

    Article  PubMed  Google Scholar 

  103. Wilson RH, et al. Prenatal pleural effusion associated with congenital pulmonary lymphangiectasia. Prenat Diagn. 1985;5(1):73–6.

    Article  CAS  PubMed  Google Scholar 

  104. Graham G, Devine PC. Antenatal diagnosis of congenital diaphragmatic hernia. Semin Perinatol. 2005;29(2):69–76.

    Article  PubMed  Google Scholar 

  105. Dott MM, Wong LY, Rasmussen SA. Population-based study of congenital diaphragmatic hernia: risk factors and survival in Metropolitan Atlanta, 1968–1999. Birth Defects Res A Clin Mol Teratol. 2003;67(4):261–7.

    Article  CAS  PubMed  Google Scholar 

  106. Holder AM, et al. Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet. 2007;80(5):825–45.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  107. Brady, P.D., et al., Recent Developments in the Genetic Factors Underlying Congenital Diaphragmatic Hernia. Fetal Diagn Ther, 2010.

    Google Scholar 

  108. Srisupundit K, et al. Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH). Prenat Diagn. 2010;30(12–13):1198–206.

    Article  PubMed  Google Scholar 

  109. Brady PD, et al. Identification of dosage-sensitive genes in fetuses referred with severe isolated congenital diaphragmatic hernia. Prenat Diagn. 2013;33(13):1283–92.

    Article  CAS  PubMed  Google Scholar 

  110. Grushka JR, et al. Effect of hospital case volume on outcome in congenital diaphragmatic hernia: the experience of the Canadian Pediatric Surgery Network. J Pediatr Surg. 2009;44(5):873–6.

    Article  PubMed  Google Scholar 

  111. van den Hout L, et al. Actual outcome in infants with congenital diaphragmatic hernia: the role of a standardized postnatal treatment protocol. Fetal Diagn Ther. 2011;29(1):55–63.

    Article  PubMed  Google Scholar 

  112. Hayakawa M, et al. Effect of hospital volume on the mortality of congenital diaphragmatic hernia in Japan. Pediatr Int. 2013;55(2):190–6.

    Article  PubMed  Google Scholar 

  113. Delacourt, C., et al., Long term respiratory outcomes of congenital diaphragmatic hernia, esophageal atresia, and cardiovascular anomalies. Seminars in fetal & neonatal medicine, 2012.

    Google Scholar 

  114. van den Hout L, et al. Can we improve outcome of congenital diaphragmatic hernia? Pediatr Surg Int. 2009;25(9):733–43.

    Article  PubMed  PubMed Central  Google Scholar 

  115. Gallot D, et al. Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne, France. Eur J Obstet Gynecol Reprod Biol. 2006;125(2):202–5.

    Article  PubMed  Google Scholar 

  116. Gallot D, et al. Prenatal detection and outcome of congenital diaphragmatic hernia: a French registry-based study. Ultrasound Obstet Gynecol. 2007;29(3):276–83.

    Article  CAS  PubMed  Google Scholar 

  117. Metkus AP, et al. Sonographic predictors of survival in fetal diaphragmatic hernia. J Pediatr Surg. 1996;31(1):148–51. discussion 151–2

    Article  CAS  PubMed  Google Scholar 

  118. Peralta CF, et al. Assessment of lung area in normal fetuses at 12–32 weeks. Ultrasound Obstet Gynecol. 2005;26(7):718–24.

    Article  CAS  PubMed  Google Scholar 

  119. Jani J, et al. Assessment of lung area in fetuses with congenital diaphragmatic hernia. Ultrasound Obstet Gynecol. 2007;30(1):72–6.

    Article  CAS  PubMed  Google Scholar 

  120. Dekoninck P, 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(9):619–24.

    Article  PubMed  Google Scholar 

  121. Knox E, et al. Prenatal detection of pulmonary hypoplasia in fetuses with congenital diaphragmatic hernia: a systematic review and meta-analysis of diagnostic studies. J Matern Fetal Neonatal Med. 2010;23(7):579–88.

    Article  PubMed  Google Scholar 

  122. Jani J, 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(1):67–71.

    Article  CAS  PubMed  Google Scholar 

  123. Jani JC, et al. Prenatal prediction of neonatal morbidity in survivors with congenital diaphragmatic hernia: a multicenter study. Ultrasound Obstet Gynecol. 2009;33(1):64–9.

    Article  CAS  PubMed  Google Scholar 

  124. Jani JC, et al. Lung volumes in fetuses with congenital diaphragmatic hernia: comparison of 3D US and MR imaging assessments. Radiology. 2007;244(2):575–82.

    Article  PubMed  Google Scholar 

  125. Cannie M, et al. Prenatal prediction of survival in isolated diaphragmatic hernia using observed to expected total fetal lung volume determined by magnetic resonance imaging based on either gestational age or fetal body volume. Ultrasound Obstet Gynecol. 2008;32(5):633–9.

    Article  CAS  PubMed  Google Scholar 

  126. Cannie M, et al. Fetal body volume: use at MR imaging to quantify relative lung volume in fetuses suspected of having pulmonary hypoplasia. Radiology. 2006;241(3):847–53.

    Article  PubMed  Google Scholar 

  127. Mayer, S., et al. The correlation between lung volume and liver herniation measurements by fetal MRI in isolated congenital diaphragmatic hernia: a systematic review and meta-analysis of observational studies. Prenat Diagn, 2011.

    Google Scholar 

  128. Jani J, et al. Value of prenatal magnetic resonance imaging in the prediction of postnatal outcome in fetuses with diaphragmatic hernia. Ultrasound Obstet Gynecol. 2008;32(6):793–9.

    Article  CAS  PubMed  Google Scholar 

  129. Cannie M, et al. Quantification of intrathoracic liver herniation by magnetic resonance imaging and prediction of postnatal survival in fetuses with congenital diaphragmatic hernia. Ultrasound Obstet Gynecol. 2008;32(5):627–32.

    Article  CAS  PubMed  Google Scholar 

  130. Claus F, et al. Prenatal anatomical imaging in fetuses with congenital diaphragmatic hernia. Fetal Diagn Ther. 2011;29(1):88–100.

    Article  PubMed  Google Scholar 

  131. Goodfellow T, et al. Congenital diaphragmatic hernia: the prognostic significance of the site of the stomach. Br J Radiol. 1987;60(718):993–5.

    Article  CAS  PubMed  Google Scholar 

  132. Hatch E Jr, Kendall J, Blumhagen J. Stomach position as an in utero predictor of neonatal outcome in left-sided diaphragmatic hernia. J Pediatr Surg. 1992;27(6):778–9.

    Article  PubMed  Google Scholar 

  133. Kitano Y, et al. Re-evaluation of stomach position as a simple prognostic factor in fetal left congenital diaphragmatic hernia: a multicenter survey in Japan. Ultrasound Obstet Gynecol. 2011;37(3):277–82.

    Article  CAS  PubMed  Google Scholar 

  134. Cordier, A.G., et al. Stomach position versus liver-to-thoracic volume ratio in left-sided congenital diaphragmatic hernia. J Matern Fetal Neonatal Med, 2014.

    Google Scholar 

  135. Done, E., et al. Maternal hyperoxygenation test in fetuses undergoing FETO for severe isolated congenital diaphragmatic hernia. Ultrasound Obstet Gynecol, 2010.

    Google Scholar 

  136. Cruz-Martinez R, et al. Contribution of intrapulmonary artery Doppler to improve prediction of survival in fetuses with congenital diaphragmatic hernia treated with fetal endoscopic tracheal occlusion. Ultrasound Obstet Gynecol. 2010;35(5):572–7.

    Article  CAS  PubMed  Google Scholar 

  137. Deprest JA, et al. The making of fetal surgery. Prenat Diagn. 2010;30(7):653–67.

    Article  PubMed  Google Scholar 

  138. Deprest JA, Nicolaides K, Gratacos E. Fetal surgery for congenital diaphragmatic hernia is back from never gone. Fetal Diagn Ther. 2011;29(1):6–17.

    Article  PubMed  Google Scholar 

  139. Khan PA, Cloutier M, Piedboeuf B. Tracheal occlusion: a review of obstructing fetal lungs to make them grow and mature. Am J Med Genet C Semin Med Genet. 2007;145C(2):125–38.

    Article  PubMed  Google Scholar 

  140. Flageole H, 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(2):299–303.

    Article  CAS  PubMed  Google Scholar 

  141. Davey, M., et al. Pulmonary arteriole muscularization in lambs with diaphragmatic hernia after combined tracheal occlusion/glucocorticoid therapy. Am J Obstet Gynecol. 2007;197(4):381e1–7.

    Article  CAS  Google Scholar 

  142. Nelson SM, et al. Rescue of the hypoplastic lung by prenatal cyclical strain. Am J Respir Crit Care Med. 2005;171(12):1395–402.

    Article  PubMed  Google Scholar 

  143. Bealer JF, et al. The ‘PLUG’ odyssey: adventures in experimental fetal tracheal occlusion. J Pediatr Surg. 1995;30(2):361–4. discussion 364–5

    Article  CAS  PubMed  Google Scholar 

  144. Deprest J, Gratacos E, Nicolaides KH. Fetoscopic tracheal occlusion (FETO) for severe congenital diaphragmatic hernia: evolution of a technique and preliminary results. Ultrasound Obstet Gynecol. 2004;24(2):121–6.

    Article  CAS  PubMed  Google Scholar 

  145. Deprest J, et al. Technical aspects of fetal endoscopic tracheal occlusion for congenital diaphragmatic hernia. J Pediatr Surg. 2011;46(1):22–32.

    Article  PubMed  Google Scholar 

  146. Jani JC, et al. Severe diaphragmatic hernia treated by fetal endoscopic tracheal occlusion. Ultrasound Obstet Gynecol. 2009;34(3):304–10.

    Article  CAS  PubMed  Google Scholar 

  147. Done, E., et al. Predictors of neonatal morbidity in fetuses with severe isolated congenital diaphragmatic hernia undergoing fetoscopic tracheal occlusion. Ultrasound Obstet Gynecol, 2013.

    Google Scholar 

  148. Wegrzyn P, et al. Premature labor after fetal endoscopic tracheal occlusion for congenital diaphragmatic hernia: post-procedure management problems. Ultrasound Obstet Gynecol. 2010;36(1):124–5.

    Article  CAS  PubMed  Google Scholar 

  149. McHugh K, et al. Tracheomegaly: a complication of fetal endoscopic tracheal occlusion in the treatment of congenital diaphragmatic hernia. Pediatr Radiol. 2010;40(5):674–80.

    Article  PubMed  Google Scholar 

  150. Fauza DO, et al. Fetal tissue engineering: diaphragmatic replacement. J Pediatr Surg. 2001;36(1):146–51.

    Article  CAS  PubMed  Google Scholar 

  151. Ruano R, et al. Comparison between fetal endoscopic tracheal occlusion using a 1.0-mm fetoscope and prenatal expectant management in severe congenital diaphragmatic hernia. Fetal Diagn Ther. 2011;29(1):64–70.

    Article  PubMed  Google Scholar 

  152. Peralta CF, et al. Fetoscopic endotracheal occlusion for severe isolated diaphragmatic hernia: initial experience from a single clinic in Brazil. Fetal Diagn Ther. 2011;29(1):71–7.

    Article  PubMed  Google Scholar 

  153. Kohl T, et al. Encouraging early clinical experience with deliberately delayed temporary fetoscopic tracheal occlusion for the prenatal treatment of life-threatening right and left congenital diaphragmatic hernias. Fetal Diagn Ther. 2006;21(3):314–8.

    Article  PubMed  Google Scholar 

  154. Ruano R, et al. A randomized controlled trial of fetal endoscopic tracheal occlusion versus postnatal management of severe isolated congenital diaphragmatic hernia. Ultrasound Obstet Gynecol. 2012;39(1):20–7.

    Article  CAS  PubMed  Google Scholar 

  155. Cannie MM, et al. Evidence and patterns in lung response after fetal tracheal occlusion: clinical controlled study. Radiology. 2009;252(2):526–33.

    Article  PubMed  Google Scholar 

  156. Reiss I, et al. Standardized postnatal management of infants with congenital diaphragmatic hernia in Europe: the CDH EURO Consortium consensus. Neonatology. 2010;98(4):354–64.

    Article  CAS  PubMed  Google Scholar 

  157. Tworetzky W, et al. In utero valvuloplasty for pulmonary atresia with hypoplastic right ventricle: techniques and outcomes. Pediatrics. 2009;124(3):e510–8.

    Article  PubMed  Google Scholar 

  158. Divanovic, A., et al. Prediction and perinatal management of severely restrictive atrial septum in fetuses with critical left heart obstruction: clinical experience using pulmonary venous Doppler analysis. J Thorac Cardiovasc Surg. 2011;141(4):988–94.

    Article  PubMed  Google Scholar 

  159. Arzt W, et al. Intrauterine aortic valvuloplasty in fetuses with critical aortic stenosis: experience and results of 24 procedures. Ultrasound Obstet Gynecol. 2011;37(6):689–95.

    Article  CAS  PubMed  Google Scholar 

  160. Oepkes D, et al. 2010 Report from the ISPD Special Interest Group fetal therapy: fetal cardiac interventions. Prenat Diagn. 2011;31(3):249–51.

    Article  CAS  PubMed  Google Scholar 

  161. Glazener CM, et al. New postnatal urinary incontinence: obstetric and other risk factors in primiparae. BJOG. 2006;113(2):208–17.

    Article  CAS  PubMed  Google Scholar 

  162. Sharland G, et al. Hypoplastic left-heart syndrome. Lancet. 2001;357(9257):722.

    Article  CAS  PubMed  Google Scholar 

  163. Sharland GK, et al. Left ventricular dysfunction in the fetus: relation to aortic valve anomalies and endocardial fibroelastosis. Br Heart J. 1991;66(6):419–24.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  164. Kaltman JR, et al. Impact of congenital heart disease on cerebrovascular blood flow dynamics in the fetus. Ultrasound Obstet Gynecol. 2005;25(1):32–6.

    Article  CAS  PubMed  Google Scholar 

  165. Limperopoulos C, et al. Brain volume and metabolism in fetuses with congenital heart disease: evaluation with quantitative magnetic resonance imaging and spectroscopy. Circulation. 2010;121(1):26–33.

    Article  CAS  PubMed  Google Scholar 

  166. Rychik J, et al. The hypoplastic left heart syndrome with intact atrial septum: atrial morphology, pulmonary vascular histopathology and outcome. J Am Coll Cardiol. 1999;34(2):554–60.

    Article  CAS  PubMed  Google Scholar 

  167. Rychik J, et al. Perinatal and early surgical outcome for the fetus with hypoplastic left heart syndrome: a 5-year single institutional experience. Ultrasound Obstet Gynecol. 2010;36(4):465–70.

    Article  CAS  PubMed  Google Scholar 

  168. Gewillig M. The Fontan circulation. Heart. 2005;91(6):839–46.

    Article  PubMed  PubMed Central  Google Scholar 

  169. Gaynor JW, Elliott MJ. Congenital left ventricular outflow tract obstruction. J Heart Valve Dis. 1993;2(1):80–93.

    CAS  PubMed  Google Scholar 

  170. Nguyen, T., et al. Echocardiography of hypoplastic left heart syndrome. Cardiol Young. 2011;21(Suppl 2):28–37.

    Article  PubMed  Google Scholar 

  171. Makikallio, K., et al. Fetal aortic valve stenosis and the evolution of hypoplastic left heart syndrome: patient selection for fetal intervention. Circulation. 2006;113(11):1401–5.

    Article  PubMed  Google Scholar 

  172. Viktrup L, Lose G. The risk of stress incontinence 5 years after first delivery. Am J Obstet Gynecol. 2001;185(1):82–7.

    Article  CAS  PubMed  Google Scholar 

  173. Tabbutt S, et al. Neurodevelopmental outcomes after staged palliation for hypoplastic left heart syndrome. Pediatrics. 2008;121(3):476–83.

    Article  PubMed  Google Scholar 

  174. McElhinney DB, et al. Predictors of technical success and postnatal biventricular outcome after in utero aortic valvuloplasty for aortic stenosis with evolving hypoplastic left heart syndrome. Circulation. 2009;120(15):1482–90.

    Article  PubMed  PubMed Central  Google Scholar 

  175. Gardiner HM, Kumar S. Fetal cardiac interventions. Clin Obstet Gynecol. 2005;48(4):956–63.

    Article  PubMed  Google Scholar 

  176. Mizrahi-Arnaud A, et al. Pathophysiology, management, and outcomes of fetal hemodynamic instability during prenatal cardiac intervention. Pediatr Res. 2007;62(3):325–30.

    Article  PubMed  Google Scholar 

  177. Marshall AC, et al. Results of in utero atrial septoplasty in fetuses with hypoplastic left heart syndrome. Prenat Diagn. 2008;28(11):1023–8.

    Article  PubMed  Google Scholar 

  178. Tegerstedt G, et al. Obstetric risk factors for symptomatic prolapse: a population-based approach. Am J Obstet Gynecol. 2006;194(1):75–81.

    Article  PubMed  Google Scholar 

  179. Hartmann K, et al. Outcomes of routine episiotomy: a systematic review. JAMA. 2005;293(17):2141–8.

    Article  CAS  PubMed  Google Scholar 

  180. Olivieri, L., et al. Hypoplastic left heart syndrome with intact atrial septum sequelae of left atrial hypertension in utero. J Am Coll Cardiol. 2011;57(20):e369.

    Article  PubMed  Google Scholar 

  181. Sandvik H, et al. Validation of a severity index in female urinary incontinence and its implementation in an epidemiological survey. J Epidemiol Community Health. 1993;47(6):497–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  182. Richter, J., et al. Fetoscopic release of an amniotic band with risk of amputation: case report and review of the literature. Fetal diagnosis and therapy, 2012.

    Google Scholar 

  183. Torpin R. Amniochorionic Mesoblastic Fibrous Strings and Amnionic Bands: Associated Constricting Fetal Malformations or Fetal Death. Am J Obstet Gynecol. 1965;91:65–75.

    Article  CAS  PubMed  Google Scholar 

  184. Van Allen MI. Fetal vascular disruptions: mechanisms and some resulting birth defects. Pediatr Ann. 1981;10(6):219–33.

    PubMed  Google Scholar 

  185. Moerman P, et al. Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: discrete disruption sequences with pathogenetic overlap. Am J Med Genet. 1992;42(4):470–9.

    Article  CAS  PubMed  Google Scholar 

  186. Thom DH, et al. Parturition events and risk of urinary incontinence in later life. NeurourolUrodyn. 2011;30(8):1456–61.

    Google Scholar 

  187. Rodrigues, A., et al. Limb constriction secondary to pseudoamniotic band syndrome after selective fetoscopic laser surgery: report of a case with a favorable outcome. Fetal Diagn Ther. 2012;32(4):288–91.

    Article  PubMed  Google Scholar 

  188. Fritel X, et al. Pelvic floor disorders 4 years after first delivery: a comparative study of restrictive versus systematic episiotomy. BJOG. 2008;115(2):247–52.

    Article  CAS  PubMed  Google Scholar 

  189. Wehbeh H, et al. The relationship between the ultrasonographic diagnosis of innocent amniotic band development and pregnancy outcomes. Obstet Gynecol. 1993;81(4):565–8.

    CAS  PubMed  Google Scholar 

  190. Urwitz-Lane R, Ozel B. Sexual function in women with urodynamic stress incontinence, detrusor overactivity, and mixed urinary incontinence. Am J Obstet Gynecol. 2006;195(6):1758–61.

    Article  PubMed  Google Scholar 

  191. Tadmor O, et al. Analysis of umbilical artery flow parameters during fetal variable decelerations using computerized Doppler waveforms. Fetal Diagn Ther. 1999;14(1):2–10.

    Article  CAS  PubMed  Google Scholar 

  192. Pedersen TK, Thomsen SG. Spontaneous resolution of amniotic bands. Ultrasound Obstet Gynecol. 2001;18(6):673–4.

    Article  CAS  PubMed  Google Scholar 

  193. Kanayama MD, Gaffey TA, Ogburn PL Jr. Constriction of the umbilical cord by an amniotic band, with fetal compromise illustrated by reverse diastolic flow in the umbilical artery. A case report. J Reprod Med. 1995;40(1):71–3.

    CAS  PubMed  Google Scholar 

  194. Husler MR, et al. When is fetoscopic release of amniotic bands indicated? Review of outcome of cases treated in utero and selection criteria for fetal surgery. Prenat Diagn. 2009;29(5):457–63.

    Article  PubMed  Google Scholar 

  195. Weinzweig N. Constriction band-induced vascular compromise of the foot: classification and management of the “intermediate” stage of constriction-ring syndrome. Plast Reconstr Surg. 1995;96(4):972–7.

    Article  CAS  PubMed  Google Scholar 

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Hodges, R., De Catte, L., Devlieger, R., Lewi, L., Van Mieghem, T., Deprest, J. (2018). Antenatal Diagnosis: Current Status for Paediatric Surgeons. In: Losty, P., Flake, A., Rintala, R., Hutson, J., lwai, N. (eds) Rickham's Neonatal Surgery. Springer, London. https://doi.org/10.1007/978-1-4471-4721-3_4

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