Prenatal characteristics and management of pregnants with fetal cerebellar malformation: 4-year single center experience

Year 2022, Volume: 4 Issue: 4, 444 - 448, 22.10.2022

Nazlı Korkmaz , İbrahim Alataş , Alev Ateş Aydın , Ali Ekiz , Necdet Öncü

https://doi.org/10.38053/acmj.1170709

Abstract

Introduction: Fetal cerebellar malformations (FCM) are known as very rare central nervous system malformations that occur as hypoplasia or agenesis of the cerebellum or vermis. In this study, the characteristics, diagnostic methods, risk factors and management of pregnant women diagnosed with FCM in the prenatal period were investigated.
Material and Method: The patients who diagnosed with prenatal FCM in the perinatology center between March 2017-February 2021 were included, retrospectively. The frequency of fetal magnetic resonance imaging (MRI), amniocentesis and/or karyotype analysis rates, and termination frequency were evaluated. In addition, the factors affecting the amniocentesis and the termination/follow-up decision were investigated.
Results: A total of 42 pregnant with FCM were included. The median gestational age was 24.0 years, and the mean gestational week was 25+2 (SD±5+1) weeks. Nearly half (40.5%) of patients were diagnosed before 24 weeks of gestation and 45.2% were primiparous. Cerebellar hypoplasia was observed in 47.6%, while vermis agenesis was observed in almost one third (31.0%); and also 19.0% had multiple FCM. The fetal USG was used in all pregnant women, fetal MRI was performed in only 4.8% for diagnosis of FCM. The rate of amniocentesis and karyotype analysis were 11.9% and 7.1%, retrospectively. No any complications were observed after the amniocentesis. The termination rate was 30.9%. The mean gestational week of those who had live birth was higher than those who were terminated (24+4 vs 20+5) (p=0.019).
Conclusion: The frequency of FCM diagnosis has increased with the development of modern medicine and technology. There is no relationship between demographic characteristics of pregnant women and FCM. Socio-economic levels and religious belief differences affect the termination and birth rates.

Keywords

Cerebellar malformation, cerebellar hypoplasia, vermis hypoplasia, pregnancy, termination

References

• Robinson AJ, Ederies MA. Diagnostic imaging of posterior fossa anomalies in the fetus. Semin Fetal Neonatal Med 2016; 21: 312-20.
• Aldinger KA, Doherty D. The genetics of cerebellar malformations. Semin Fetal Neonatal Med 2016; 21: 321-32.
• Garel C, Fallet-Bianco C, Guibaud L. The fetal cerebellum: development and common malformations. J Child Neurol 2011; 26: 1483-92.
• Malinger G, Paladini D, Haratz KK, Monteagudo A, Pilu GL, Timor-Tritsch IE. 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 2020; 56: 476-84.
• Garel C. Posterior fossa malformations: main features and limits in prenatal diagnosis. Pediatr Radiol 2010; 40: 1038-45.
• Griffiths PD, Bradburn M, Campbell MJ, et al. Use of MRI in the diagnosis of fetal brain abnormalities in utero (MERIDIAN): a multicentre, prospective cohort study. Lancet 2017; 389: 538-46.
• Malinger G, Paladini D, Pilu G, Timor-Tritsch IE. Fetal cerebral magnetic resonance imaging, neurosonography and the brave new world of fetal medicine. Ultrasound Obstet Gynecol 2017; 50: 679-80.
• Paladini D, Malinger G, Pilu G, Timor-Trisch I, Volpe P. The MERIDIAN trial: caution is needed. Lancet 2017; 389: 2103.
• D’Antonio F, Khalil A, Garel C, et al. Systematic review and meta-analysis of isolated posterior fossa malformations on prenatal ultrasound imaging (part 1): nomenclature, diagnostic accuracy and associated anomalies. Ultrasound Obstet Gynecol 2016; 47: 690-7.
• Behram M, Oğlak SC, Ölmez F, et al. Blake’s pouch cyst: Prenatal diagnosis and management. Turk J Obstet Gynecol 2021; 18: 44-49.
• Langmár Z, Németh M, Csaba Á, Szigeti Z, Joó JG. A központi idegrendszer fejlődési rendellenességeinek praenatalis diagnosztikája [Prenatal diagnosis of central nervous system malformations]. Ideggyogy Sz 2013; 66: 228-34.
• Adama van Scheltema PN, Nagel HT, Brouwer OF, Vandenbussche FP. Outcome of children with prenatally diagnosed central nervous system malformations. Ultrasound Obstet Gynecol 2003; 21: 41-7.
• Poretti A, Boltshauser E, Doherty D. Cerebellar hypoplasia: differential diagnosis and diagnostic approach. Am J Med Genet C Semin Med Genet 2014; 166C: 211-26.
• Accogli A, Addour-Boudrahem N, Srour M. Diagnostic Approach to Cerebellar Hypoplasia. Cerebellum 2021; 20: 631-58.
• Nomura ML, Barini R, De Andrade KC, et al. Congenital hydrocephalus: gestational and neonatal outcomes. Arch Gynecol Obstet 2010; 282: 607-11.
• Moutard ML, Kieffer V, Feingold J, et al. Agenesis of corpus callosum: prenatal diagnosis and prognosis. Childs Nerv Syst 2003; 19: 471-6.
• Cavalheiro S, Sparapani FV, Moron AF, da Silva MC, Stávale JN. Fetal meningeal hemangiopericytoma. Case report. J Neurosurg 2002; 97: 1217-20.
• Stein SC, Feldman JG, Apfel S, Kohl SG, Casey G. The epidemiology of congenital hydrocephalus. A study in Brooklyn, N.Y 1968--1976. Childs Brain 1981; 8: 253-62.
• International Society of Ultrasound in Obstetrics & Gynecology Education Committee. Sonographic examination of the fetal central nervous system: guidelines for performing the ‘basic examination’ and the ‘fetal neurosonogram’. Ultrasound Obstet Gynecol 2007; 29: 109-16.
• Koyuncu Arslan M, Akar M, Pala HG, Taner CE, Oncel MY. Fetal santral sinir sistemi anomalilerinin değerlendirilmesi; referans merkez perinatoloji konsey verileri. Forbes J Med 2020; 1: 75-8.
• Robinson AJ, Blaser S, Toi A, et al. The fetal cerebellar vermis: assessment for abnormal development by ultrasonography and magnetic resonance imaging. Ultrasound Q 2007; 23: 211-23.
• Wassmer E, Davies P, Whitehouse WP, Green SH. Clinical spectrum associated with cerebellar hypoplasia. Pediatr Neurol 2003; 28: 347-51.
• Cater SW, Boyd BK, Ghate SV. Abnormalities of the Fetal Central Nervous System: Prenatal US Diagnosis with Postnatal Correlation. Radiographics 2020; 40: 1458-72.
• Howley MM, Keppler-Noreuil KM, Cunniff CM, Browne ML; National Birth Defects Prevention Study. Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study. Birth Defects Res 2018; 110: 1419-32.
• Flick A, Krakow D, Martirosian A, Silverman N, Platt LD. Routine measurement of amniotic fluid alpha-fetoprotein and acetylcholinesterase: the need for a reevaluation. Am J Obstet Gynecol 2014; 211: 139.
• Yayla M, Bayhan G, Yalınkaya A, Alp N, Fidanboy M, Görmüş H. Yüksek riskli gebeliklerde 2. trimester genetik amniyosentez: 165 olgunun klinik değerlendirilmesi. Perinatoloji Derg 1999; 7, 40-6.
• Leschot NJ, Verjaal M, Treffers PE. Risks of midtrimester amniocentesis; assessment in 3000 pregnancies. Br J Obstet Gynaecol 1985; 92: 804-7.
• Howley MM, Keppler-Noreuil KM, Cunniff CM, Browne ML. National Birth Defects Prevention Study. Descriptive epidemiology of cerebellar hypoplasia in the National Birth Defects Prevention Study. Birth Defects Res 2018; 110: 1419-32.
• Garne E, Loane M, Addor MC, Boyd PA, Barisic I, Dolk H. Congenital hydrocephalus--prevalence, prenatal diagnosis and outcome of pregnancy in four European regions. Eur J Paediatr Neurol 2010; 14: 150-5.
• Tan AG, Sethi N, Sulaiman S. Evaluation of prenatal central nervous system anomalies: obstetric management, fetal outcomes and chromosome abnormalities. BMC Pregnancy Childbirth 2022; 22: 210.