Outcome of prenatally diagnosed central nervous system malformations in a tertiary center in Singapore
Keywords:
Central nervous system malformation, Congenital anomalies, Global developmental delay, Termination of pregnancy, Neural tube defects
Abstract
Background: Central nervous malformations are associated with major morbidity and mortality in infants and children. Knowledge of the data about their outcome and neurodisability will help in perinatal counseling and aid in parental decision-making.
Objective: To study the fetal and neonatal characteristics of prenatally diagnosed central nervous system (CNS) malformations and the neurodevelopmental outcome of the survivors over 5years.
Methods: Maternal and neonatal records of prenatally diagnosed CNS malformations were retrospectively reviewed over five years (January 2005 till December 2009). The relevant fetal and neonatal data were collected from the database maintained by the birth defect registry. The long-term neurodevelopment data was obtained from case records.
Results: There were 116 cases of fetal structural CNS malformations. Termination of pregnancy or fetal deaths occurred in 80/116 (69%) of cases, of which 68% had Neural tube defects (NTD). There were 36 live births, of which six infants died of anencephaly and were not included in the study. Among 30 live births 17% of infants needed ventilator support and 17% had neurosurgical intervention. On follow up 37% of the cohort had neurodevelopmental delay, 10% died, 30% had normal neurodevelopmental outcome and 23% defaulted on follow-up.
Conclusions: In two-thirds of the fetuses of prenatally diagnosed CNS malformations, termination of pregnancy or fetal death occurred. Nearly half of the survivors who were followed up had a composite outcome of death or global neurodevelopmental delay and need for support services.
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References
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25. Pilu G, Sandri F, Perolo A, Giangaspero F, Cocchi G, Salvioli GP, Bovicelli L Prenatal diagnosis of lobar holoprosencephaly. Ultrasound Obstet Gynecol. 1992; Mar 1;2(2):88-94. [PubMed]
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2. Garne E, Dolk H, Loane M, Wellesley D, Barisic I, Calzolari E, Densem J; EUROCAT Working Group. Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases. Birth Defects Res A Clin Mol Teratol. 2011 Mar;91 Suppl 1:S44-50. [PubMed]
3. Decouflé P,Boyle CA, Paulozzi LJ, Lary JM.Increased Risk for Developmental Disabilities in Children Who Have Major Birth Defects: A Population-Based Study. Pediatrics. 2001 Sep;108(3):728-734. [PubMed]
4. Limb CJ, Holmes LB. Anencephaly: changes in prenatal detection and birth status, 1972 through 1990. Am J ObstetGynecol.1994 May;170: 1333–1338. [PubMed]
5. Grandjean H, Larroque D, Levi S. Eurofetus Study Group.The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. Am J Obstet Gynecol.1999; 181(2): 446–454. [PubMed]
6. Mighell AS, Johnstone ED, Levene M. Post-natal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems. Prenat Diagn. 2009 Apr;29(4):442-449.
7. Leitner Y, Goez H, Gull , Mesterman R, Weiner E, Jaffa A, Harel S Antenatal diagnosis of central nervous system anomalies: can we predict prognosis?. J Child Neurol. 2004 Jun;19(6):435-8. [PubMed]
8. Ben Sira L, Garel C, Leitner Y, Gross-TsurV. Prenatal imaging of the fetal brain – indications and developmental implications of fetal MRI. Harefuah. 2008; 147(1):65–70. [PubMed]
9. Whitlow BJ, Chatzipapas IK, Lazanakis ML, Kadir RA, Economides DL. The value of sonography in early pregnancy for the detection of fetal abnormalities in an unselected population.Br J Obstet Gynaecol. 1999; 106(9): 929-936. [PubMed]
10. Manchester DK, Pretorius DH, Avery C, Manco-Johnson ML, Wiggins J, Meier PR, Clewell WH. Accuracy of ultrasound diagnoses in pregnancies complicated by suspected fetal anomalies. Prenat Diagn. 1988 Feb;8(2):109-117.
11. Chung R, Kasprian G, Brugger PC, Prayer D. The current state and future of fetal imaging. ClinPerinatol 2009;36(3):685–699. [PubMed]
12. Glenn OA, Barkovich J. Magnetic resonance imaging of the fetal brain and spine: an increasingly important tool in prenatal diagnosis: Part 2. AJNR Am J Neuroradiol. 2006 Oct;27(9):1807-1814. [PubMed]
13. Ozkan ZS, Gilgin H, Aygün HB, Deveci D, Simşek M, Kumru S, Yüce H. Our clinical experience about prenatal diagnosis and neonatal outcomes of fetal central nervous system anomalies. J Matern Fetal Neonatal Med. 2011 Mar;24(3):502-505. [PubMed]
14. Adama van Scheltema PN, Nagel HT, et al. Outcome of children with prenatally diagnosed central nervous system malformations. Ultrasound Obstet Gynecol. 2003;21(1):41-47.
15. Li Y, Sansgiri RK, Estroff JA, et al. Outcome of foetuses with cerebral ventriculomegaly and septum pellucidum leaflet abnormalities. AJR Am J Roentgenol2011; 196(1):W83-92. [PubMed]
16. K H Tan, T Y T Tan, J Tan, I Tan, S K Chew, G S H Yeo Birth defects in Singapore: 1994 - 2000 Singapore Med J 2005; 46(10) : 545 -552. [PubMed]
17. Johnson SP, Sebire NJ, Snijders RJ, Tunkel S, Nicolaides KH. Ultrasound screening for anencephaly at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1997;9(1):14–16. [PubMed]
18. Johnson CY, Honein MA, Dana Flanders W, Howards PP, Oakley GP Jr, Rasmussen SA.Pregnancy termination following prenatal diagnosis of anencephaly or spina bifida: A systematic review of the literature Birth Defects Res A Clin Mol Teratol. 2012 Nov;94(11):857-863.
19. Kagan KO, Staboulidou I, Syngelaki A, Cruz J, Nicolaides KH. The 11-13-week scan: diagnosis and outcome of holoprosencephaly, exomphalos and megacystis. Ultrasound Obstet Gynecol. 2010 Jul;36(1):10-14. [PubMed]
20. Clayton-Smith J, Farndon PA, McKeown C, Donnai D. Examination of fetuses after induced abortion for fetal abnormality. BMJ. 1990; Feb 3;300(6720): 295–297. [PubMed]
21. Boyd PA, Tondi F, Hicks NR, Chamberlain PF. Autopsy after termination of pregnancy for fetal anomaly: retrospective cohort study. BMJ. 2004 Jan 17;328(7432):137-140. [PubMed]
22. Rodriguez MA, Prats P, Rodríguez I, Cusí V, Comas C. Concordance between prenatal ultrasound and autopsy findings in a tertiary center. Prenat Diagn. 2014 Aug;34(8):784-789.
23. Whitby EH, Paley MN, Sprigg A, Rutter S, Davies NP, Wilkinson ID, Griffiths PD. Comparison of ultrasound and magnetic resonance imaging in 100 singleton pregnancies with suspected brain abnormalities. BJOG. 2004 Aug;111(8):784-92.
24. Herman-Sucharska I, Bekiesińska-Figatowska M, Urbanik A.Fetal central nervous system malformations on MR images. Brain Dev 2009; 31(3):185-199.
25. Pilu G, Sandri F, Perolo A, Giangaspero F, Cocchi G, Salvioli GP, Bovicelli L Prenatal diagnosis of lobar holoprosencephaly. Ultrasound Obstet Gynecol. 1992; Mar 1;2(2):88-94. [PubMed]
26. Hosseinzadeh K, Luo J, Borhani A, Hill L. Non-visualisation of cavum septi pellucidi: implication in prenatal diagnosis?. Insights Imaging. 2013 Jun;4(3):357-367. [PubMed]
27. Mangione R, Fries N, Godard P, et al. Neurodevelopmental outcome following prenatal diagnosis of an isolated anomaly of the corpus callosum. Ultrasound Obstet Gynecol 2011;37(3):290–295. [PubMed]
28. Rossi AC, Prefumo F. Additional value of fetal magnetic resonance imaging in the prenatal diagnosis of central nervous system anomalies: a systematic review of the literature. Ultrasound Obstet Gynecol 2014;Oct;44(4):388-393.
29. Patenaude Y, Pugash D, Lim K, et al. The use of magnetic resonance imaging in the obstetric patient. SOGC Clinical Practice Guidelines, No. 306, April 2014. J Obstet Gynaecol Can 2014;36(4):349–63.
30. Forzano F, Mansour S, Ierullo A, Homfray T, Thilaganathan B. Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature. PrenatDiagn.2007; 27(6): 495–501. [PubMed]
31. Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F.Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003;19(7-8):484-489. [PubMed]
32. Howe DT, Rankin J, Draper ES.Schizencephaly prevalence, prenatal diagnosis and cluesto etiology: a register-based study. Ultrasound Obstet Gynecol 2012; 39(1): 75–82.
33. Curry CJ, Lammer EJ, Nelson V, Shaw GM. Schizencephaly: heterogeneous etiologies in a population of 4 million California births. Am J Med Genet A 2005; 137(2): 181–189.
34. Oh KY, Kennedy AM, Frias AE Jr, Byrne JL. Fetal schizencephaly: pre- and postnatal imaging with a review of the clinical manifestations. Radiographics. 2005; 25(3):647-657. [PubMed]
CITATION
DOI: 10.17511/ijpr.2016.i08.03
Published: 2016-08-31
How to Cite
Dr. Odattil Geetha, Dr. Suresh Chandran, Dr. Bhavani Sriram, Yeo Seow Heong, DrJoseph ManuelGomez, & Victor Samuel Rajadurai. (2016). Outcome of prenatally diagnosed central nervous system malformations in a tertiary center in Singapore. Pediatric Review: International Journal of Pediatric Research, 3(8), 557-566. https://doi.org/10.17511/ijpr.2016.i08.03
Section
Original Article
Copyright (c) 2016 Author (s). Published by Siddharth Health Research and Social Welfare Society
This work is licensed under a Creative Commons Attribution 4.0 International License.
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