Ultrasound and Magnetic Resonance Imaging of Agenesis of the Corpus Callosum in Fetuses: Frontal Horns and Cavum Septi Pellucidi Are Clues to Earlier Diagnosis.
agenesis of the corpus callosum
cavum septi pellucidi
fetus
frontal horns
ventriculomegaly
Journal
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
ISSN: 1550-9613
Titre abrégé: J Ultrasound Med
Pays: England
ID NLM: 8211547
Informations de publication
Date de publication:
Dec 2020
Dec 2020
Historique:
received:
03
01
2020
revised:
30
04
2020
accepted:
06
05
2020
pubmed:
1
7
2020
medline:
15
5
2021
entrez:
30
6
2020
Statut:
ppublish
Résumé
We hypothesized that: (1) fetal frontal horn (FH) morphology and their proximity to the cavum septi pellucidi (CSP) can assist in suspecting complete agenesis of the corpus callosum (cACC) and partial agenesis of the corpus callosum (pACC) earlier than known indirect ultrasound (US) findings; (2) FHs assist in differentiating a true CSP from a pseudocavum; and (3) magnetic resonance imaging (MRI) is useful in learning FH morphology and pseudocavum etiology. Thirty-two patients with cACC and 9 with pACC were identified on an Institutional Review Board-approved retrospective review. Of the 41 cases, 40 had prenatal US, and 21 had prenatal MRI; 17 had follow-up neonatal US, and 14 had follow-up neonatal MRI. Variables evaluated retrospectively were the presence of a CSP or a pseudocavum, ventricle size and shape, and FH shape (comma, trident, parallel, golf club, enlarged, or fused). Displacement between the inferior edge of the FH and the midline or cavum/pseudocavum was measured. Fetal FHs had an abnormal shape in 77% ≤20 weeks' gestation, 86% ≤24 weeks, and 90% >24 weeks. Frontal horns were laterally displaced greater than 2 mm in 85% ≤20 weeks, 91% ≤24 weeks, and 95% >24 weeks. The CSP was absent in 100% of cACC cases and 78% of pACC cases, and a pseudocavum was present in 88% of cACC cases and 78% of pACC cases across gestation. Magnetic resonance imaging confirmed US pseudocavums to be focal interhemispheric fluid or an elevated/dilated third ventricle. Frontal horns assist in assessing ACC ≤24 weeks and throughout gestation. Pseudocavums, often simulating CSPs, are common in ACC. Frontal horn lateral displacement and abnormal morphology, recognized by MRI correlations, are helpful in differentiating a pseudocavum from a true CSP. A normal CSP should not be cleared on screening US unless normally shaped FHs are seen directly adjacent to it.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2389-2403Subventions
Organisme : University of California, San Diego
Informations de copyright
© 2020 American Institute of Ultrasound in Medicine.
Références
Santo S, D'Antonio F, Homfray T, et al. Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol 2012; 40:513-521.
Bennett GL, Bromley B, Benacerraf BR. Agenesis of the corpus callosum: prenatal detection usually is not possible before 22 weeks' gestation. Radiology 1996; 199:447-450.
Paladini D, Pastore G, Cavallaro A, Massaro M, Nappi C. Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age. Ultrasound Obstet Gynecol 2013; 42:687-690.
Hosseinzadeh K, Luo J, Borhani A, Hill L. Non-visualisation of cavum septi pellucidi: implication in prenatal diagnosis? Insights Imaging 2013; 4:357-367.
AIUM-ACR-ACOG-SMFM-SRU practice parameter for the performance of standard diagnostic obstetric ultrasound examinations. J Ultrasound Med 2018; 37:E13-E24.
Wax J, Minkoff H, Johnson A, et al. Consensus report on the detailed fetal anatomic ultrasound examination: indications, components, and qualifications. J Ultrasound Med 2014; 33:189-195.
AIUM practice parameter for the performance of detailed second- and third- trimester diagnostic obstetric ultrasound examinations. J Ultrasound Med 2019; 38:3093-3100.
Lavender I, Coombs PR, Van Haltren K, Robinson AJ. Routine screening for callosal dysgenesis in the second trimester is achievable with intensive training. J Ultrasound Med 2016; 35:717-722.
Malinger G, Lev D, Lerman-Sagie T. The fetal corpus callosum: “the truth is out there.”. Ultrasound Obstet Gynecol 2007; 30:140-141.
Cignini P, Padula F, Giorlandino M, et al. Reference charts for fetal corpus callosum length: a prospective cross-sectional study of 2950 fetuses. J Ultrasound Med 2014; 33:1065-1078.
Cagneaux M, Guibaud L. From cavum septi pellucidi to anterior complex: how to improve detection of midline cerebral abnormalities. Ultrasound Obstet Gynecol 2013; 42:485-486.
Viñals F, Correa F, Goncalves-Pereira PM. Anterior and posterior complexes: a step towards improving neurosonographic screening of midline and cortical anomalies. Ultrasound Obstet Gynecol 2015; 46:585-594.
Lachmann R, Sodre D, Barmpas M, Akolekar R, Nicolaides KH. Midbrain and falx in fetuses with absent corpus callosum at 11-13 weeks. Fetal Diagn Ther 2013; 33:41-46.
Karl K, Esser T, Heling KS, Chaoui R. Cavum septi pellucidi (CSP) ratio: a marker for partial agenesis of the fetal corpus callosum. Ultrasound Obstet Gynecol 2017; 50:336-341.
Pilu G, Sandri F, Perolo A, et al. Sonography of fetal agenesis of the corpus callosum: a survey of 35 cases. Ultrasound Obstet Gynecol 1993; 3:318-329.
Tijssen MP, Poretti A, Huisman TA. Chiari type 1 malformation, corpus callosum agenesis and patent craniopharyngeal canal in an 11-year-old boy. Neuroradiol J 2016; 29:307-309.
Ribes R, Luna A, Ros PR. Learning Diagnostic Imaging: 100 Essential Cases. Berlin, Germany: Springer; 2008.
Baert AL. Encyclopedia of Diagnostic Imaging. Vol 2. Berlin, Germany: Springer-Verlag; 2008.
Levine D, Trop I, Mehta TS, Barnes PD. MR imaging appearance of fetal cerebral ventricular morphology. Radiology 2002; 223:652-660.
Winter TC, Kennedy AM, Byrne J, Woodward PJ. The cavum septi pellucidi: why is it important? J Ultrasound Med 2010; 29:427-444.
Benacerraf BR, Shipp TD, Bromley B, Levine D. What does magnetic resonance imaging add to the prenatal sonographic diagnosis of ventriculomegaly? J Ultrasound Med 2007; 26:1513-1522.
Wiechec M, Nocun A, Knafel A, Beithon J, Stettner D. Four steps in diagnosing complete agenesis of the corpus callosum in prenatal life. Ultraschall Med 2016; 37:92-99.
Ho Y, Herrero T, Aguinaldo J, et al. Ultrasound measurements of frontal horns and the cavum septi pellucidi in healthy fetuses in the second and third trimesters of pregnancy. J Ultrasound Med 2020; 39:127-137.
Shen O, Gelot AB, Moutard ML, Jouannic JM, Sela HY, Garel C. Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum. Ultrasound Obstet Gynecol 2015; 46:595-599.
Engels AC, Joyeux L, Brantner C, et al. Sonographic detection of central nervous system defects in the first trimester of pregnancy. Prenat Diagn 2016; 36:266-273.
Pilu G, Segata M, Ghi T, et al. Diagnosis of midline anomalies of the fetal brain with the three-dimensional median view. Ultrasound Obstet Gynecol 2006; 27:522-529.
Pashaj S, Merz E, Wellek S. Biometry of the fetal corpus callosum by three-dimensional ultrasound. Ultrasound Obstet Gynecol 2013; 42:691-698.
Salman MM, Twining P, Mousa H, et al. Evaluation of offline analysis of archived three-dimensional volume datasets in the diagnosis of fetal brain abnormalities. Ultrasound Obstet Gynecol 2011; 38:165-169.
Plasencia W, Dagklis T, Borenstein M, Csapo B, Nicolaides KH. Assessment of the corpus callosum at 20-24 weeks of gestation by three-dimensional ultrasound examination. Ultrasound Obstet Gynecol 2007; 30:169-172.
Wang PH, Ying TH, Wang PC, Shih IC, Lin LY, Chen GD. Obstetrical three-dimensional ultrasound in the visualization of the intracranial midline and corpus callosum of fetuses with cephalic position. Prenat Diagn 2000; 20:518-520.
Miguelote RF, Vides B, Santos RF, Palha JA, Matias A, Sousa N. The role of three-dimensional imaging reconstruction to measure the corpus callosum: comparison with direct mid-sagittal views. Prenat Diagn 2011; 31:875-880.
Conturso R, Contro E, Bellussi F, et al. Demonstration of the pericallosal artery at 11-13 weeks of gestation using 3D ultrasound. Fetal Diagn Ther 2015; 37:305-309.
Monteagudo A, Timor-Tritsch IE, Mayberry P. Three-dimensional transvaginal neurosonography of the fetal brain: “navigating” in the volume scan. Ultrasound Obstet Gynecol 2000; 16:307-313.
Lipa M, Pooh RK, Wielgos M. Three-dimensional neurosonography: a novel field in fetal medicine. Ginekol Pol 2017; 88:215-221.
Bornstein E, Monteagudo A, Santos R, Keeler SM, Timor-Tritsch IE. A systematic technique using 3-dimensional ultrasound provides a simple and reproducible mode to evaluate the corpus callosum. Am J Obstet Gynecol 2010; 202:201.e1-201.e5.
Glenn OA, Goldstein RB, Li KC, et al. Fetal magnetic resonance imaging in the evaluation of fetuses referred for sonographically suspected abnormalities of the corpus callosum. J Ultrasound Med 2005; 24:791-804.
Tang PH, Bartha AI, Norton ME, Barkovich AJ, Sherr EH, Glenn OA. Agenesis of the corpus callosum: an MR imaging analysis of associated abnormalities in the fetus. AJNR Am J Neuroradiol 2009; 30:257-263.
Sonigo PC, Rypens FF, Carteret M, Delezoide AL, Brunelle FO. MR imaging of fetal cerebral anomalies. Pediatr Radiol 1998; 28:212-222.
Raybaud C, Levrier O, Brunel H, Girard N, Farnarier P. MR imaging of fetal brain malformations. Childs Nerv Syst 2003; 19:455-470.
Pugash D, Hendson G, Dunham CP, Dewar K, Money DM, Prayer D. Sonographic assessment of normal and abnormal patterns of fetal cerebral lamination. Ultrasound Obstet Gynecol 2012; 40:642-651.
Manganaro L, Bernardo S, De Vito C, et al. Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study. Prenat Diagn 2017; 37:244-252.
Honein MA, Dawson AL, Petersen EE, et al. Birth defects among fetuses and infants of US women with evidence of possible zika virus infection during pregnancy. JAMA 2017; 317:59-68.
Prasad AN, Bunzeluk K, Prasad C, Chodirker BN, Magnus KG, Greenberg CR. Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolism. Congenit Anom (Kyoto) 2007; 47:125-135.
Scola E, Sirgiovanni I, Avignone S, et al. Fetal development of the corpus callosum: insights from a 3T DTI and tractography study in a patient with segmental callosal agenesis. Neuroradiol J 2016; 29:323-325.
Song JW, Gruber GM, Patsch JM, Seidl R, Prayer D, Kasprian G. How accurate are prenatal tractography results? A postnatal in vivo follow-up study using diffusion tensor imaging. Pediatr Radiol 2018; 48:486-498.
Garavelli L, Ivanovski I, Caraffi SG, et al. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med 2017; 19:691-700.
Bonneau D, Toutain A, Laquerriere A, et al. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol 2002; 51:340-349.
d'Ercole C, Girard N, Cravello L, et al. Prenatal diagnosis of fetal corpus callosum agenesis by ultrasonography and magnetic resonance imaging. Prenat Diagn 1998; 18:247-253.
Rapp B, Perrotin F, Marret H, Sembely-Taveau C, Lansac J, Body G. Value of fetal cerebral magnetic resonance imaging for the prenatal diagnosis and prognosis of corpus callosum agenesis [in French]. J Gynecol Obstet Biol Reprod (Paris) 2002; 31:173-182.
Sotiriadis A, Makrydimas G. Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review. Am J Obstet Gynecol 2012; 206:337.e1-337.e5.
Zorila GL, Tudorache S, Barbu EM, et al. Outcome of fetuses with abnormal cavum septi pellucidi: experience of a tertiary center. J Clin Gynecol Obstet 2016; 5:112-116.
Rakic P, Yakovlev PI. Development of the corpus callosum and cavum septi in man. J Comp Neurol 1968; 132:45-72.
Harreld JH, Bhore R, Chason DP, Twickler DM. Corpus callosum length by gestational age as evaluated by fetal MR imaging. AJNR Am J Neuroradiol 2011; 32:490-494.
Kier EL, Truwit CL. The normal and abnormal genu of the corpus callosum: an evolutionary, embryologic, anatomic, and MR analysis. AJNR Am J Neuroradiol 1996; 17:1631-1641.