Churchill Livingstone 1993; 292-294. Nevertheless, when the sonographic diagnosis is uncertain in cases shuch as maternal obesity, fetal size and position, the MR imaging can be helpful. Stashinko EE, Clegg NJ, Kammann HA et al. Prenatal imaging of congenital malformations of the brain. However, it may present in neonates with seizures, respiratory failure, flaccidity or decerebrate posturing with a vegetative state 5. Management: Fetal karyotype is mandatory when holoprosencephaly is discovered by ultrasound; termination of pregnancy should be offered to parents of previable fetuses. 1 This condition is invariably associated with a wide range of midfacial defects ranging from a single incisor to cyclopia. AJNR Am J Neuroradiol. Paladini D, Volpe P. Ultrasound of Congenital Fetal Anomalies. The basic structure of the cerebral hemispheres is lost, with variable amounts of residual cortex. The full text of this article hosted at iucr.org is unavailable due to technical difficulties. Prenatal Diagnosis of Alobar Holoprosencephaly with Cystic Hygroma. In the other, the diagnosis was incidentally made during sonographic evaluation of the fetal anatomy before CVS. The middle interhemispheric variant of holoprosencephaly. People also love these ideas As will most cerebral structural congenital abnormalities, semilobar holoprosencephaly is visible on all modalities, but in general is identified on antenatal ultrasound, and best characterized by MRI. Abstract Orbital defects are rarely diagnosed in the fetus. Cross‐sectional view of the fetal brain at 11 weeks 5 days' menstrual age showing the characteristic butterfly appearance of the choroid plexuses. Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Lobar Holoprosencephaly Among them, 30 cases (1.7%) with holo-prosencephaly were prenatally identified and described. First Trimester Ultrasound Assessment for Fetal Aneuploidy. Fetal Neuroimaging: Ultrasound, MRI, or Both?. Radiologic-pathologic correlation. Disorders of Diverticulation/Cleavage. Holoprosencephaly is a severe brain anomaly characterized by different degrees of fusion of the lateral ventricles resulting from failure of the prosencephalon to cleave during early embryogenesis. Below are brief descriptions of the three main types. First trimester three‐dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus. This feature is not present in first‐trimester fetuses with holoprosencephaly, however, because that condition is associated with severe distortion of the lateral ventricles and choroid plexuses. Early imaging and diagnosis helps in deciding the outcome of the ongoing pregnancy. 5. Results The prevalence of holoprosencephaly … (b) Sagittal ultrasound image showing the proboscis (thin white arrow) as a tubular cystic projection in the frontal region. olpe P, Campobasso G, De Robertis V, Rembouskos G: 8. Holoprosencephaly. Associated facial anomalies were found at the time of presentation in 2 cases, and extracranial anomalies were found in 2, 1 with a cystic hygroma and 1 with a small omphalocele and polydactyly. IMAGING SERVICES LOCATIONS. Image 5: Ultrasound view of the fetal profile. V Disorders of prosencephalic development. link. Haber HP, Stern M. Intestinal ultrasonography in children and young adults: bowel wall thickness is age dependent. Objective. Crossref, Medline, Google Scholar; 56. Use the link below to share a full-text version of this article with your friends and colleagues. In a large series of 38 fetuses with holoprosencephaly undergoing second‐ and third‐trimester karyotyping, 11 (29%) had an abnormal karyotype, 8 with trisomy 13 and 3 with other chromosomal defects.11 In another study of 30 fetuses with holoprosencephaly, 11 (37%) had chromosomal abnormalities, 8 of which involved chromosome 13.2 Conversely, of 46 cases of trisomy 13 diagnosed as part of a large multicentric first‐trimester sonographic screening study involving 100,311 singleton pregnancies with live fetuses, 11 (24%) had holoprosencephaly at the time of nuchal translucency measurement.12 Later on in pregnancy, when a thorough examination of the fetal brain is more plausible, detection of holoprosencephaly in fetuses with trisomy 13 is higher. Serial 2D and 3D ultrasound scans were interpreted as being normal at 18.6, 19.1, and 21.3 weeks, menstrual age (Figures 1 and and2) 2) (Voluson Expert, GE Healthcare, Milwaukee, WI). Diagnosis. Among them, early prenatal diagnosis of holoprosencephaly is a desirable clinical goal because this condition is associated with several chromosomal defects, mainly trisomy 13, trisomy 18, and triploidy.1 Even in fetuses with a normal karyotype, the detection of holoprosencephaly is important because this major brain anomaly is associated with an almost uniformly lethal outcome or, in the few survivors, with profound neurodevelopmental delay. Holoprosencephaly refers to a spectrum of craniofacial malformations including cyclopia, ethmocephaly, cebocephaly, and premaxillary agenesis. Medline, Google Scholar; 6. Case 3: prenatal ultrasound 1st trimester, Hydrocephalus from post-fossa arachnoid cyst, agenesis or hypoplasia of the corpus callosum, lissencephaly type I: subcortical band heterotopia spectrum, mild malformations of cortical development, single midline monoventricle (or holosphere), middle and anterior cerebral arteries may be replaced by tangled branches of internal carotid and basilar vessels, pancake: cerebral tissue is confined to the anterior basicranium, cup: cerebral tissue lines variable amounts of the anterior cranium with a dorsal cyst present posteriorly, ball: a complete rim of tissue surrounds the monoventricle without dorsal cyst, thalami are often visible and are not fused, not associated with midline facial abnormalities, no cortex present, or sometimes small islands of tissue, falx cerebri usually present, but may be absent due to severe long-standing hydrocephalus. Focused examination of the fetal brain in these cases showed the characteristic intracranial sonographic findings associated with holoprosencephaly, including a monoventricular cavity with an absent midline and fused thalami. Informa HealthCare. The etiology of otocephaly is poorly understood and has never been reported in a fetus with Trisomy 18. As with most cerebral structural congenital abnormalities, alobar holoprosencephaly is visible on all modalities, but in general is identified on antenatal ultrasound (if performed), and best characterized by MRI. Ultrasound may also show a snake under the skull signin some situations. In recent years, there has been an increasing interest in the early diagnosis of fetal anomalies. Pathology-Based Diagnoses. Indeed, 2 cases of holoprosencephaly in our series were detected in women originally requesting nuchal translucency screening. Cranial sonography (US) is the most widely used neuroimaging procedure in premature infants. Holoprosencephaly: A Survey of the Entity, with Embryology and Fetal Imaging. Medline, Google Scholar; 7. Lobar Holoprosencephaly: Absent CSP present in 100% of cases. 16: Coronal section - Alobar holoprosencephaly - large, horseshoe-shaped single ventricular cavity (blue arrow) and fused thalami (pink star). Nuchal translucency thickness was normal in 2 fetuses and abnormally increased in the other (cystic hygroma). Sonographic Development of the Pericallosal Vascularization in the First and Early Second Trimester of Pregnancy. 1984;151 (2): 455-9. 14 (5): 1151-6. with normal to simplified cortical pattern, microcephaly with extensive polymicrogyria, malformations secondary to inborn errors of metabolism, mitochondrial and pyruvate metabolic disorders, cerebellar hypoplasias, not otherwise specified, focal cerebellar cortical dysplasias/heterotopia, lissencephaly with agenesis of corpus callosum and cerebellar dysplasia, associated with diffuse cerebral polymicrogyria. AJNR Am J Neuroradiol 2002;23(1):151–156. 1,10 Holoprosencephaly can be detected in the first trimester, as we have shown, although the sensitivity of ultrasound diagnosis before 24 weeks of gestation was 69% and up to 77% overall in one recent study. Radiographic features As will most cerebral structural congenital abnormalities, lobar HPE is visible on all modalities, but in general is identified on antenatal ultrasound, and best characterized by MRI. F : (a) Coronal ultrasound image showing the fused thalami in the centre and large monoventricle (thick white arrow). Case 3: holoprosencephaly in a fetus with a ring chromosome 13 at 13 weeks 5 days. Learn more. link. and you may need to create a new Wiley Online Library account. Modern ultrasound imaging devices have increasingly allowed sophisticated prenatal diagnoses of fetal disorders. Diagnosis. Radiology Matters: 3D Printing Is Bridging the Gap Between Radiology and Surgery The Ubiquity of AI at RSNA 2019 The integration of artificially intelligent technologies with breast imaging 1984 May;151(2):455-9. Management: Fetal karyotype is mandatory when holoprosencephaly is discovered by ultrasound; termination of pregnancy should be offered to parents of previable fetuses. Note should be made that these are along a spectrum and as such… Second‐trimester sonography in this case revealed holoprosencephaly, microcephaly, abnormal facial features, an abnormal 4‐chamber view of the heart, talipes, and intrauterine growth restriction. As with all types of holoprosencephaly, it is a rare congenital brain malformation in which there is failure of complete separation of the two hemispheres (which usually occurs around the 4th to 6th gestational weeks) and failure of transverse cleavage into the diencephalon and telencephalon. 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