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Avoiding the antenatal counselling faux pas: bridging the gap between prenatal prognostication and postnatal outcome of closed spina bifida

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Abstract

Purpose

Closed spina bifida (CSB) is rare in prenatal literature, and various lesions are grouped under this broad nosological entity CSB, leading to confusing and misleading prognostic conclusions.

Methods

This is a retrospective observational cohort study of prenatally detected CSB cases using two-dimensional ultrasound, complemented by three-dimensional ultrasonography and foetal MRI in indicated cases, from October 2014 to October 2021 in a tertiary-level single centre.

Results

The most common upper vertebral level of CSB was lumbar in 66.6% (10/15). The sub-classification of lesions based on prenatal ultrasound showed an agreement in 53% of the cases. Sixty percent had associated abnormalities identified postnatally, the most common being anorectal malformation seen in 33.3%. On postnatal follow-up, 46.6% had bowel incontinence and bladder dysfunction, and 33.3% developed lower limb deformities.

Conclusions

All CSBs do not have a uniformly favourable prognosis. The prognosis of CSB depends on the pathological type, the presence of associated abnormalities and the management.

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References

  1. Ghi T, Pilu G, Falco P, Segata M, Carletti A, Cocchi G, Santini D, Bonasoni P, Tani G, Rizzo N (2006) Prenatal diagnosis of open and closed spina bifida. Ultrasound Obstet Gynecol 28:899–903

    Article  CAS  Google Scholar 

  2. Paoletti D, Robertson M, Sia SB (2014) A sonographic approach to prenatal classification of congenital spine anomalies. Australas J Ultrasound Med 17:20–37

    Article  Google Scholar 

  3. Milani HJF, Barreto EQS, Chau H, To NH, Moron AF, Meagher S, Da Silva CF, Araujo Junior E (2020) Prenatal diagnosis of closed spina bifida: multicenter case series and review of the literature. J Matern Fetal Neonatal Med 33:736–742

    Article  Google Scholar 

  4. Tortori-Donati P, Rossi A, Cama A (2000) Spinal dysraphism: a review of neuroradiological features with embryological correlations and proposal for a new classification. Neuroradiology 42:471–491

    Article  CAS  Google Scholar 

  5. Paladini D, Malinger G, Birnbaum R, Monteagudo A, Pilu G, Salomon LJ, Timor-Tritsch IE (2021) ISUOG practice guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography. Ultrasound Obstet Gynecol 57:661–671

    Article  CAS  Google Scholar 

  6. Yagel S, Valsky DV (2021) Re: ISUOG practice guidelines (updated): sonographic examination of the fetal central nervous system. Part 1: performance of screening examination and indications for targeted neurosonography. Ultrasound Obstet Gynecol 57:173–174

    Article  CAS  Google Scholar 

  7. Egloff A, Bulas D (2015) Magnetic resonance imaging evaluation of fetal neural tube defects. Semin Ultrasound CT MR 36:487–500

    Article  Google Scholar 

  8. Husler MR, Danzer E, Johnson MP, Bebbington M, Sutton L, Adzick NS, Wilson RD (2009) Prenatal diagnosis and postnatal outcome of fetal spinal defects without Arnold-Chiari II malformation. Prenat Diagn 29:1050–1057

    Article  Google Scholar 

  9. Masini L, De Luca C, Noia G, Caruso A, Lanzone A, Rendeli C, Ausili E, Massimi L, Tamburrini G, Apicella M, De Santis M (2019) Prenatal diagnosis, natural history, postnatal treatment and outcome of 222 cases of spina bifida: experience of a tertiary center. Ultrasound Obstet Gynecol 53:302–308

    Article  CAS  Google Scholar 

  10. Vinck A, Maassen B, Mullaart R, Rotteveel J (2006) Arnold-Chiari-II malformation and cognitive functioning in spina bifida. J Neurol Neurosurg Psychiatry 77:1083–1086

    Article  CAS  Google Scholar 

  11. Coblentz AC, Teixeira SR, Mirsky DM, Johnson AM, Feygin T, Victoria T (2020) How to read a fetal magnetic resonance image 101. Pediatr Radiol 50:1810–1829

    Article  Google Scholar 

  12. Glenn OA, Barkovich AJ (2006) Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis, part 1. AJNR Am J Neuroradiol 27:1604–1611

    CAS  PubMed  PubMed Central  Google Scholar 

  13. Glenn OA, Barkovich J (2006) Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis: part 2. AJNR Am J Neuroradiol 27:1807–1814

    CAS  PubMed  PubMed Central  Google Scholar 

  14. Barkovich AJ (2005) Congenital anomalies of the spine. In: Barkovich AJ, editor. Pediatric Neuroimaging ed 4. Philadelphia: Lippincott Williams & Wilkins p. 705–720

  15. Thorne A, Pierre-Kahn A, Sonigo P (2001) Antenatal diagnosis of spinal lipomas. Childs Nerv Syst 17:697–703

    Article  CAS  Google Scholar 

  16. Masini L, De Santis M, Ciotti S et al (2007) Prenatal findings and outcome of open and closed spina bifida: analysis of 164 cases. Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 30:498–498

  17. Aguilera S, Soothill P, Denbow M, Pople I (2009) Prognosis of spina bifida in the era of prenatal diagnosis and termination of pregnancy. Fetal Diagn Ther 26:68–74

    Article  Google Scholar 

  18. Malinger G, Guibaud L, Vinals F (2011) Prenatal diagnosis of closed spinal dysraphism. 21st World Congress on Ultrasound in Obstetrics and Gynecology, Ultrasound in Obstetrics & Gynecology 38:56–167

  19. Masini L, Noia G, De Santis M et al (2015) Spina bifida: prenatal diagnosis, natural history and outcome in 213 cases – experience of a single third‐level centre. 25th World Congress on Ultrasound in Obstetrics and Gynecology. Ultrasound in Obstetrics & Gynecology 46:1–5

  20. Nagaraj UD, Bierbrauer KS, Peiro JL, Kline-Fath BM (2016) Differentiating closed versus open spinal dysraphisms on fetal MRI. AJR Am J Roentgenol 207:1316–1323

    Article  Google Scholar 

  21. Copp AJ, Adzick NS, Chitty LS, Fletcher JM, Holmbeck GN, Shaw GM (2015) Spina bifida. Nat Rev Dis Primers 1:15007

    Article  Google Scholar 

  22. Badve CA, Khanna PC, Phillips GS, Thapa MM, Ishak GE (2011) MRI of closed spinal dysraphisms. Pediatr Radiol 41:1308–1320

    Article  Google Scholar 

  23. Pierre-Kahn A, Sonigo P (2003) Lumbosacral lipomas: in utero diagnosis and prognosis. Childs Nerv Syst 19:551–554

    Article  Google Scholar 

  24. Moscoso G (2009) Congenital structural defects of the brain. In: Levene MI, Chervenak FA (eds) Fetal and neonatal neurology and neurosurgery, 4th edn. Churchill Livingstone Elsevier, Philadelphia, PA, pp 222–265

  25. Upasani VV, Ketwaroo PD, Estroff JA, Warf BC, Emans JB, Glotzbecker MP (2016) Prenatal diagnosis and assessment of congenital spinal anomalies: Review for prenatal counseling. World J Orthop 7:406–417

    Article  Google Scholar 

  26. Simon EM, Pollock AN (2004) Prenatal and postnatal imaging of spinal dysraphism. Semin Roentgenol 39:182–196

    Article  Google Scholar 

  27. Byrd SE, Harvey C, McLone DG, Darling CF (1996) Imaging of terminal myelocystoceles. J Natl Med Assoc 88:510–516

    CAS  PubMed  PubMed Central  Google Scholar 

  28. Ross M, Brewer K, Wright FV, Agur A (2007) Closed neural tube defects: neurologic, orthopaedic, and gait outcomes. Pediatr Phys Ther 19:288–295

  29. Tseng JH, Kuo MF, Kwang Tu Y, Tseng MY (2008) Outcome of untethering for symptomatic spina bifida occulta with lumbosacral spinal cord tethering in 31 patients: analysis of preoperative prognostic factors. Spine J : official journal of the North American Spine Society 8:630–638

  30. Kanev PM, Lemire RJ, Loeser JD, Berger MS (1990) Management and long-term follow-up review of children with lipomyelomeningocele, 1952-1987. J Neurosurg 73:48–52

  31. Lee JY, Phi JH, Kim SK, Cho BK, Wang KC (2011) Urgent surgery is needed when cyst enlarges in terminal myelocystoceles. Childs Nerv Syst: ChNS: Official Journal of the International Society for Pediatric Neurosurgery 27:2149–2153

  32. La Marca F, Grant JA, Tomita T, McLone DG (1997) Spinal lipomas in children: outcome of 270 procedures. Pediatr Neurosurg 26:8–16

  33. Wu HY, Kogan BA, Baskin LS, Edwards MS (1998) Long-term benefits of early neurosurgery for lipomyelomeningocele. J Urol 160:511–514

  34. Sumi A, Sato Y, Kakui K, Tatsumi K, Fujiwara H, Konishi I (2011) Prenatal diagnosis of anterior sacral meningocele. Ultrasound Obstet Gynecol 37:493–496

  35. Ben-Sira L, Garel C, Malinger G, Constantini S (2013) Prenatal diagnosis of spinal dysraphism. Childs Nerv Syst 29:1541–1552

  36. Choi S, McComb JG (2000) Long-term outcome of terminal myelocystocele patients. Pediatr Neurosurg 32:86–91

  37. Rossi A, Gandolfo C, Morana G, Piatelli G, Ravegnani M, Consales A, Pavanello M, Cama A, Tortori-Donati P (2006) Current classification and imaging of congenital spinal abnormalities. Semin Roentgenol 41:250–273

  38. Rossi A, Piatelli G, Gandolfo C, Pavanello M, Hoffmann C, Van Goethem JW, Cama A, Tortori-Donati P (2006) Spectrum of nonterminal myelocystoceles. Neurosurgery 58:509–515

  39. Sauerbrei EE, Grant P (1999) Prenatal diagnosis of myelocystoceles: report of two cases. J Ultrasound Med 18:247–252

  40. Cameron M, Moran P (2009) Prenatal screening and diagnosis of neural tube defects. Prenat Diagn 29:402–411

    Article  Google Scholar 

  41. Aaronson OS, Hernanz-Schulman M, Bruner JP, Reed GW, Tulipan NB (2003) Myelomeningocele: prenatal evaluation–comparison between transabdominal US and MR imaging. Radiology 227:839–843

    Article  Google Scholar 

  42. Lee MY, Won HS, Shim JY, Lee PR, Kim A, Lee BS, Kim EA, Cho HJ (2016) Sonographic determination of type in a fetal imperforate anus. J Ultrasound Med 35:1285–1291

    Article  Google Scholar 

  43. Brantberg A, Blaas HG, Haugen SE, Isaksen CV, Eik-Nes SH (2006) Imperforate anus: a relatively common anomaly rarely diagnosed prenatally. Ultrasound Obstet Gynecol 28:904–910

    Article  CAS  Google Scholar 

  44. Bulas D (2010) Fetal evaluation of spine dysraphism. Pediatr Radiol 40:1029–1037

    Article  Google Scholar 

  45. Rohrer L, Vial Y, Gengler C, Tenisch E, Alamo L (2020) Prenatal imaging of anorectal malformations - 10-year experience at a tertiary center in Switzerland. Pediatr Radiol 50:57–67

    Article  Google Scholar 

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Acknowledgements

We acknowledge the support from Dr. Sheela Namboothiri, the paediatric geneticist at our institute. We also extend our special thanks to Dr. Sushmita Namdeo for contributing to the ultrasound images submitted.

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Authors and Affiliations

  1. Division of Paediatric Neurosurgery, Department of Neurosurgery, Amrita Institute of Medical Sciences & Research Centre, Kochi, Kerala, India

    Suhas Udayakumaran

  2. Division of Fetal Medicine & Perinatology, Amrita Institute of Medical Sciences & Research Centre, Kochi, Kerala, India

    Rinshi Abid Elayedatt & Vivek Krishnan

Authors
  1. Suhas Udayakumaran
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  2. Rinshi Abid Elayedatt
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  3. Vivek Krishnan
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Contributions

Conceptualisation: Suhas Udayakumaran. Methodology: Rinshi Abid Elayedatt, Suhas Udayakumaran. Formal analysis and investigation: Rinshi Abid Elayedatt, Suhas Udayakumaran. Writing — original draft preparation: Rinshi Abid Elayedatt, Suhas Udayakumaran. Writing: Rinshi Abid Elayedatt, Suhas Udayakumaran, Vivek Krishnan. Resources: Rinshi Abid Elayedatt, Suhas Udayakumaran, Vivek Krishnan. Supervision: Suhas Udayakumaran.

Corresponding author

Correspondence to Suhas Udayakumaran.

Ethics declarations

Ethics approval and consent to participate

Approved by the institutional ethical committee (ECASM-AIMS-2021-126), and informed written consent was obtained from all women.

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Key Points

• All closed spina bifida does not have a uniformly favourable prognosis.

• Prognosis depends on the pathological type of CSB, the level of the lesion and the presence of associated abnormalities at presentation and surgical treatment.

• CSBs can produce progressive neurological and orthopaedic dysfunction later in childhood or adult life.

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Udayakumaran, S., Elayedatt, R.A. & Krishnan, V. Avoiding the antenatal counselling faux pas: bridging the gap between prenatal prognostication and postnatal outcome of closed spina bifida. Childs Nerv Syst 38, 1751–1762 (2022). https://doi.org/10.1007/s00381-022-05562-z

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  • DOI: https://doi.org/10.1007/s00381-022-05562-z

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