Prenatal Diagnosis of Schizencephaly with 2D-3D Sonography and MRI Ali Gedikbasi, MD, Gokhan Yildirim, MD, Sezin Saygi, MD, Oguz Arslan, MD, Ahmet Gul, MD, Yavuz Ceylan, MD Maternal and Fetal Unit, Istanbul Bakirkoy Women and Children Hospital, Istanbul, Turkey Received 20 November 2008; accepted 1 April 2009 ABSTRACT: We report a case of schizencephaly diagnosed prenatally at 23 weeks of gestational age with two-dimensional (2D) and three-dimensional (3D) sonography and fetal brain MRI, confirmed by autopsy. The diagnostic method of choice is 2D trans- abdominal and transvaginal sonography, whereas additional 3D sonography and MRI may provide a bet- ter understanding of the pathology and related findings. V V C 2009 Wiley Periodicals, Inc. J Clin Ultra- sound 00:000–000, 2009; Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/jcu.20589 Keywords: schizencephaly; prenatal diagnosis; 2D ultrasound; 3D ultrasound; fetal MRI; fetal malformation S chizencephaly is a rare and severe malforma- tion resulting in impaired development of the fetal brain. It is a neuronal migration disorder consisting of pia-covered gray matter-lined clefts communicating from the ventricular surface to the superficial gray matter. A term fetus would have a full-thickness cortical defect from the lat- eral ventricle to the subarachnoid space lined with pia-ependyma. CASE REPORT A 17-year-old gravida 1, para 0 was referred for ultrasound (US) examination at 22 weeks of ges- tation for evaluation of unilateral ventriculome- galy. A detailed US examination was performed with a Voluson 730 Expert scanner and a 2–7- MHz convex transducer and a 4–8-MHz micro-4D convex real-time 4D-transducer (GE Healthcae, Milwaukee, WI). The fetal cranial axial sono- grams demonstrated an open cleft in the left pari- eto-temporal region, connected with the dilated lateral ventricle. Development of the related left cortex and corpus callosum (CC) was defective (Figure 1A). Right and left parasagittal sono- grams confirmed the anomaly of the left side. Left radiation of the CC was defective, and the cavum septi pellucidi was not identified (Figure 1B). A fetal brain MRI confirmed the anatomic abnormalities demonstrated on the axial, coro- nal, and left and right parasagittal sonograms; ie, the parenchymal defect, the connection to the lateral ventricle, and the CC defect (Figure 1C, D). Sagittal and parasagittal 3D images sup- ported our diagnosis of schizencephaly with com- munication between the enlarged lateral ventri- cle and the subarachnoidal space (Figure 2A, B). The results of the fetal karyotype were normal, and the infection screen was negative. Unilateral open schizencephaly was the final diagnosis, and the parents were counseled about the high probability of neurologic impairment and severe clinical sequelae. The parents requested a termination of pregnancy, and labor was induced by a prostaglandin pessary. A female fetus was delivered. At autopsy, there was a marked unilateral ventricular dilatation with a large temporo-parietal cavity communicating with the ventricle and covered by leptomeningeal tissue. No other abnormalities were noted (Figure 3A, B). DISCUSSION The term ‘‘schizencephaly’’ was first coined by Yakolev and Wadsworth in 1946 1 to describe the Correspondence to: A. Gedikbasi ' 2009 Wiley Periodicals, Inc. VOL. 00, NO. 0, MONTH 2009 1 Case Report