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Prenatal Diagnosis of Congenital Malformations

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Pediatric Surgery

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Abstract

The convergence of progress in genetic and radiographic methods for prenatal diagnosis now makes it possible to diagnose most congenital anomalies early in gestation. Thus, it is now possible to accurately counsel affected families about their prognosis and to plan for appropriate perinatal care using a multidisciplinary team approach. In rare cases of severe or fatal anatomic abnormalities, fetal intervention may be offered by experienced centers. In this chapter, we discuss common prenatal diagnostic tools as well as the management strategies for patients with surgical diseases such as neck masses, congenital diaphragmatic hernias (CDH), lung masses, sacrococcygeal teratomas (SCTs), and myelomeningocele. There are strategies that have been developed through decades of experience with animal models and collaborative analysis of clinical outcomes worldwide. Our understanding of the underlying disease processes that contribute to prognosis is rapidly evolving and will continue to refine the current recommendations for these patients.

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References

  • Abdullah F, Arnold MA, Nabaweesi R, et al. Gastroschisis in the United States 1988–2003: analysis and risk categorization of 4344 patients. J Perinatol. 2007;27:50–5.

    Article  CAS  Google Scholar 

  • Adzick NS, Thom EA, Spong CY, et al. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med. 2011;364:993–1004.

    Article  CAS  Google Scholar 

  • Barseghyan K, Aghajanian P, Miller DA. The prevalence of preterm births in pregnancies complicated with fetal gastroschisis. Arch Gynecol Obstet. 2012;286:889–92.

    Article  Google Scholar 

  • Biard JM, Wilson RD, Johnson MP, et al. Prenatally diagnosed giant omphaloceles: short- and long-term outcomes. Prenat Diagn. 2004;24:434–9.

    Article  Google Scholar 

  • Biard JM, Johnson MP, Carr MC, et al. Long-term outcomes in children treated by prenatal vesicoamniotic shunting for lower urinary tract obstruction. Obstet Gynecol. 2005;106:503–8.

    Article  Google Scholar 

  • Bouchard S, Johnson MP, Flake AW, et al. The EXIT procedure: experience and outcome in 31 cases. J Pediatr Surg. 2002;37:418–26.

    Article  Google Scholar 

  • Broth RE, Wood DC, Rasanen J, et al. Prenatal prediction of lethal pulmonary hypoplasia: the hyperoxygenation test for pulmonary artery reactivity. Am J Obstet Gynecol. 2002;187:940–5.

    Article  Google Scholar 

  • Byrne FA, Lee H, Kipps AK, Brook MM, Moon-Grady AJ. Echocardiographic risk stratification of fetuses with sacrococcygeal teratoma and twin-reversed arterial perfusion. Fetal Diagn Ther. 2011;30:280–8.

    Article  Google Scholar 

  • Cannie M, Jani J, De Keyzer F, Roebben I, Dymarkowski S, Deprest J. Diffusion-weighted MRI in lungs of normal fetuses and those with congenital diaphragmatic hernia. Ultrasound Obstet Gynecol. 2009;34:678–86.

    Article  CAS  Google Scholar 

  • Choudhry MS, Rahman N, Boyd P, Lakhoo K. Duodenal atresia: associated anomalies, prenatal diagnosis and outcome. Pediatr Surg Int. 2009;25:727–30.

    Article  CAS  Google Scholar 

  • Clark TJ, Martin WL, Divakaran TG, Whittle MJ, Kilby MD, Khan KS. Prenatal bladder drainage in the management of fetal lower urinary tract obstruction: a systematic review and meta-analysis. Obstet Gynecol. 2003;102:367–82.

    PubMed  Google Scholar 

  • Clifton MS, Harrison MR, Ball R, Lee H. Fetoscopic transuterine release of posterior urethral valves: a new technique. Fetal Diagn Ther. 2008;23:89–94.

    Article  Google Scholar 

  • Crombleholme TM, Coleman B, Hedrick H, et al. Cystic adenomatoid malformation volume ratio predicts outcome in prenatally diagnosed cystic adenomatoid malformation of the lung. J Pediatr Surg. 2002;37:331–8.

    Article  Google Scholar 

  • Curran PF, Jelin EB, Rand L, et al. Prenatal steroids for microcystic congenital cystic adenomatoid malformations. J Pediatr Surg. 2010;45:145–50.

    Article  Google Scholar 

  • Deprest JA, Flemmer AW, Gratacos E, Nicolaides K. Antenatal prediction of lung volume and in-utero treatment by fetal endoscopic tracheal occlusion in severe isolated congenital diaphragmatic hernia. Semin Fetal Neonatal Med. 2009a;14:8–13.

    Article  Google Scholar 

  • Deprest JA, Gratacos E, Nicolaides K, et al. Changing perspectives on the perinatal management of isolated congenital diaphragmatic hernia in Europe. Clin Perinatol. 2009b;36:329–47, ix.

    Article  Google Scholar 

  • Fleck S, Bautista G, Keating SM, et al. Fetal production of growth factors and inflammatory mediators predicts pulmonary hypertension in congenital diaphragmatic hernia. Pediatr Res. 2013;74(3):290–8.

    Article  Google Scholar 

  • Gallagher PG, Mahoney MJ, Gosche JR. Cystic hygroma in the fetus and newborn. Semin Perinatol. 1999;23:341–56.

    Article  CAS  Google Scholar 

  • Harrison MR, Keller RL, Hawgood SB, et al. A randomized trial of fetal endoscopic tracheal occlusion for severe fetal congenital diaphragmatic hernia. N Engl J Med. 2003;349:1916–24.

    Article  CAS  Google Scholar 

  • Hedrick HL, Crombleholme TM, Flake AW, et al. Right congenital diaphragmatic hernia: prenatal assessment and outcome. J Pediatr Surg. 2004;39:319–23; discussion-23.

    Article  Google Scholar 

  • Hedrick HL, Danzer E, Merchant A, et al. Liver position and lung-to-head ratio for prediction of extracorporeal membrane oxygenation and survival in isolated left congenital diaphragmatic hernia. Am J Obstet Gynecol. 2007;197:422 e1–4.

    Article  Google Scholar 

  • Hemming V, Rankin J. Small intestinal atresia in a defined population: occurrence, prenatal diagnosis and survival. Prenat Diagn. 2007;27:1205–11.

    Article  Google Scholar 

  • How HY, Harris BJ, Pietrantoni M, et al. Is vaginal delivery preferable to elective cesarean delivery in fetuses with a known ventral wall defect? Am J Obstet Gynecol. 2000;182:1527–34.

    Article  CAS  Google Scholar 

  • Jani J, Keller RL, Benachi A, et al. Prenatal prediction of survival in isolated left-sided diaphragmatic hernia. Ultrasound Obstet Gynecol. 2006;27:18–22.

    Article  CAS  Google Scholar 

  • Jani J, Nicolaides KH, Keller RL, 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.

    Article  CAS  Google Scholar 

  • Jani JC, Nicolaides KH, Gratacos E, et al. Severe diaphragmatic hernia treated by fetal endoscopic tracheal occlusion. Ultrasound Obstet Gynecol. 2009;34:304–10.

    Article  CAS  Google Scholar 

  • Jelin E, Lee H. Tracheal occlusion for fetal congenital diaphragmatic hernia: the US experience. Clin Perinatol. 2009;36:349–61, ix.

    Article  Google Scholar 

  • Johnson MP, Freedman AL. Fetal uropathy. Curr Opin Obstet Gynecol. 1999;11:185–94.

    Article  CAS  Google Scholar 

  • Kitagawa H, Pringle KC, Stone P, Flower J, Murakami N, Robinson R. Postnatal follow-up of hydronephrosis detected by prenatal ultrasound: the natural history. Fetal Diagn Ther. 1998;13:19–25.

    Article  CAS  Google Scholar 

  • Laje P, Johnson MP, Howell LJ, Bebbington MW, Hedrick HL, Flake AW, Adzick NS. Ex utero intrapartum treatment in the management of giant cervical teratomas. J Pediatr Surg. 2012;47:1208–1216.

    Article  Google Scholar 

  • Mackenzie TC, Adzick NS. Perinatal diagnosis of surgical disease. In: Puri P, editor. Newborn surgery. 3rd ed. London: Hodder Arnold; 2011. p. 46–59.

    Chapter  Google Scholar 

  • Maron JL, Bianchi DW. Prenatal diagnosis using cell-free nucleic acids in maternal body fluids: a decade of progress. Am J Med Genet C: Semin Med Genet. 2007;145C:5–17.

    Article  CAS  Google Scholar 

  • Molik KA, Gingalewski CA, West KW, et al. Gastroschisis: a plea for risk categorization. J Pediatr Surg. 2001;36:51–5.

    Article  CAS  Google Scholar 

  • Morris LM, Lim FY, Livingston JC, Polzin WJ, Crombleholme TM. High-risk fetal congenital pulmonary airway malformations have a variable response to steroids. J Pediatr Surg. 2009;44:60–5.

    Article  Google Scholar 

  • Morris RK, Middleton LJ, Malin GL, PLUTO Collaborative Group, et al. Outcome in fetal lower urinary tract obstruction: a prospective registry study. Ultrasound Obstet Gynecol. 2015;46(4):424–31.

    Article  CAS  Google Scholar 

  • Murphy FL, Mazlan TA, Tarheen F, Corbally MT, Puri P. Gastroschisis and exomphalos in Ireland 1998–2004. Does antenatal diagnosis impact on outcome? Pediatr Surg Int. 2007;23:1059–63.

    Article  CAS  Google Scholar 

  • Mychaliska GB, Bealer JF, Graf JL, Rosen MA, Adzick NS, Harrison MR. Operating on placental support: the ex utero intrapartum treatment procedure. J Pediatr Surg. 1997;32:227–30; discussion 30–1.

    Article  CAS  Google Scholar 

  • Nakayama DK, Harrison MR, de Lorimier AA. Prognosis of posterior urethral valves presenting at birth. J Pediatr Surg. 1986;21:43–5.

    Article  CAS  Google Scholar 

  • Peiro JL, Sbragia L, Scorletti F, Lim FY, Shaaban A. Management of fetal teratomas. PediatrSurg Int. 2016;32:635–47.

    Article  Google Scholar 

  • Peranteau WH, Wilson RD, Liechty KW, et al. Effect of maternal betamethasone administration on prenatal congenital cystic adenomatoid malformation growth and fetal survival. Fetal Diagn Ther. 2007;22:365–71.

    Article  Google Scholar 

  • Reinberg Y, de Castano I, Gonzalez R. Prognosis for patients with prenatally diagnosed posterior urethral valves. J Urol. 1992;148:125–6.

    Article  CAS  Google Scholar 

  • Segel SY, Marder SJ, Parry S, Macones GA. Fetal abdominal wall defects and mode of delivery: a systematic review. Obstet Gynecol. 2001;98:867–73.

    CAS  PubMed  Google Scholar 

  • Smith-Harrison LI, Hougen HY, Timberlake MD, Corbett ST. Current applications of in utero intervention for lower urinary tract obstruction. J Pediatr Urol. 2015;11(6):341–7.

    Article  CAS  Google Scholar 

  • Sy ED, Filly RA, Cheong ML, et al. Prognostic role of tumor-head volume ratio in fetal sacrococcygeal teratoma. Fetal Diagn Ther. 2009;26:75–80.

    Article  Google Scholar 

  • Victoria T, Danzer E, Adzick NS. Use of ultrasound and MRI for evaluation of lung volumes in fetuses with isolated left congenital diaphragmatic hernia. Semin Pediatr Surg. 2013;22:30–6.

    Article  Google Scholar 

  • Victoria T, Andronikou S, Bowen D, Laje P, Weiss DA, Johnson AM, Peranteau WH, Canning DA, Adzick NS. Fetal anterior abdominal wall defects: prenatal imaging by magnetic resonance imaging. PediatrRadiol. 2018;48:499–512.

    Article  Google Scholar 

  • Vogler SA, Fenton SJ, Scaife ER, et al. Closed gastroschisis: total parenteral nutrition-free survival with aggressive attempts at bowel preservation and intestinal adaptation. J Pediatr Surg. 2008;43:1006–10.

    Article  Google Scholar 

  • Wald NJ, Kennard A, Hackshaw A, McGuire A. Antenatal screening for Down’s syndrome [published erratum appears in J Med Screen 1998;5(2):110 and 1998;5(3):166]. J Med Screen. 1997;4:181–246.

    Article  CAS  Google Scholar 

  • Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367:2175–84.

    Article  CAS  Google Scholar 

  • Wilson RD, Johnson MP. Congenital abdominal wall defects: an update. Fetal Diagn Ther. 2004;19:385–98.

    Article  Google Scholar 

  • Wilson RD, Baxter JK, Johnson MP, et al. Thoracoamniotic shunts: fetal treatment of pleural effusions and congenital cystic adenomatoid malformations. Fetal Diagn Ther. 2004;19:413–20.

    Article  Google Scholar 

  • Wilson RD, Hedrick H, Flake AW, et al. Sacrococcygeal teratomas: prenatal surveillance, growth and pregnancy outcome. Fetal Diagn Ther. 2009;25:15–20.

    Article  Google Scholar 

  • Wollenberg A, Neuhaus TJ, Willi UV, Wisser J. Outcome of fetal renal pelvic dilatation diagnosed during the third trimester. Ultrasound Obstet Gynecol. 2005;25:483–8.

    Article  CAS  Google Scholar 

  • Wu S, Johnson MP. Fetal lower urinary tract obstruction. Clin Perinatol. 2009;36:377–90, x.

    Article  Google Scholar 

  • Yiee J, Wilcox D. Management of fetal hydronephrosis. Pediatr Nephrol. 2008;23:347–53.

    Article  Google Scholar 

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Author information

Authors and Affiliations

  1. Eli and Edythe Broad Center for Regeneration Medicine, Fetal Treatment Center, University of California, San Francisco, CA, USA

    Tippi C. MacKenzie

  2. The Division of Pediatric General and Thoracic Surgery, The Center for Fetal Diagnosis and Treatment, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    N. Scott Adzick

Authors
  1. Tippi C. MacKenzie
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  2. N. Scott Adzick
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Correspondence to Tippi C. MacKenzie .

Editor information

Editors and Affiliations

  1. Our Lady’s Children's Hospital, National Children’s Research Centre, Dublin, Ireland

    Prem Puri

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MacKenzie, T.C., Scott Adzick, N. (2019). Prenatal Diagnosis of Congenital Malformations. In: Puri, P. (eds) Pediatric Surgery. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-38482-0_3-3

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  • DOI: https://doi.org/10.1007/978-3-642-38482-0_3-3

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-38482-0

  • Online ISBN: 978-3-642-38482-0

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Chapter history

  1. Latest

    Prenatal Diagnosis of Congenital Malformations
    Published:
    24 December 2018

    DOI: https://doi.org/10.1007/978-3-642-38482-0_3-3

  2. Original

    Prenatal Diagnosis of Congenital Malformations
    Published:
    03 March 2017

    DOI: https://doi.org/10.1007/978-3-642-38482-0_3-2

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