Diagnosis. However, these anomalies are highly associated with chromosomal and nonchromosomal defects. In: Dewbury K, Meire H, Cosgrove D (eds.). Radiology 1987;165:15-8. Systematic identification of the butterfly sign at the time of sonographic assessment of nuchal translucency provides a valuable tool for the early screening of holoprosencephaly. AJNR Am J Neuroradiol 2002; 23:151-155. Bookmarks (0) Brain. Radiology. Working off-campus? Ultrasound Obstet Gynecol 2008;32(6):744–750. In mild cases, the condition may not be diagnosed until after birth. The word hydranencephaly is a fusion of hydrocephalus and anencephaly, but the condition actually represents a distinct disorder and is primarily a disease of the fetus; encephaloclastic encephalomalacia can occur in cases of severe perinatal insult. Embryopathologic and ultrasound findings are reported in five cases of alobar holoprosencephaly that were diagnosed prenatally, two cases as early as 23 menstrual weeks. Current Opinion in Obstetrics and Gynecology, https://doi.org/10.7863/jum.2004.23.6.761, Holoprosencephaly, facial dysmorphism, small omphalocele, polydactyly. Early imaging and diagnosis helps in deciding the outcome of the ongoing pregnancy. In some cases, it can potentially identify affected fetuses in the first trimester. Castillo M, Bouldin TW, Scatliff JH et-al. 1 This condition is invariably associated with a wide range of midfacial defects ranging from a single incisor to cyclopia. Lobar holoprosencephaly is amenable to prenatal ultrasound diagnosis, although a differentiation with other cerebral malformations may be difficult at times. ADVERTISEMENT: Radiopaedia is free thanks to our supporters and advertisers. Holoprosencephaly refers to a spectrum of craniofacial malformations including cyclopia, ethmocephaly, cebocephaly, and premaxillary agenesis. Prenatal diagnosis of a possible new middle interhemispheric variant of holoprosencephaly using sonographic and magnetic resonance imaging. Wiersma F, Sramek A, Holscher HC. There was no family history of birth defects. In these cases, the first‐trimester diagnosis of holoprosencephaly was confirmed by the presence of a single monoventricular cavity and fused thalami. AJNR Am J Neuroradiol. Images 3, 4: 3D ultrasound of the fetal face (18 weeks). Indeed, 2 cases of holoprosencephaly in our series were detected in women originally requesting nuchal translucency screening. A limited anatomic survey of the fetal brain in the first trimester can be achieved in a high percentage of cases. 5. 1990;154 (1): 143-8. The presence of large dorsal cysts, hydrocephalus, or midline craniofacial defects may provide clues that eventually lead to the recognition of the associated HPE. Learn more. (a) (b) Chromosomal analysis showed trisomy 13 in 2 cases and a ring chromosome 13 in the other. F : (a) Coronal ultrasound image showing the fused thalami in the centre and large monoventricle (thick white arrow). olpe P, Campobasso G, De Robertis V, Rembouskos G: 8. Three distinct forms are noted: Alobar – monoventricle, fused thalami, semilobar with partial segmentation of ventricles and thalami and alobar with absent septum pellucidum, otherwise normal thalami and ventricles. 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. Enter your email address below and we will send you your username, If the address matches an existing account you will receive an email with instructions to retrieve your username, I have read and accept the Wiley Online Library Terms and Conditions of Use. This chapter aims to describe the systematic evaluation of fetal orbits using ultrasound (US) to identify most common anomalies. Indeed, a series of 15 fetuses with trisomy 13 scanned at 16 to 22 weeks' gestation showed that 7 (47%) had holoprosencephaly.13 In another series involving 33 fetuses with trisomy 13 scanned in the second and third trimesters, 13 (39%) had holoprosencephaly.14 In our series, 3 cases of holoprosencephaly were detected in the first trimester, and all were associated with abnormalities of chromosome 13: trisomy 13 in 2 and a ring chromosome 13 in the other. An MRI of the fetus, at 34 weeks pregnancy, demonstrated semilobar holoprosencephaly. The etiology of otocephaly is poorly understood and has never been reported in a fetus with Trisomy 18. Ultrasound is a good modality for prenatal diagnosis of holoprosencephaly that is frequently associated with midline face deformity such as cleft lip and palate, as The basic structure of the cerebral lobes are present, but are fused most commonly anteriorly and at the thalami and there is partial diverticulation of brain (dorsal cyst). These tools combine… 2 . However, the inability to identify the normal morphologic characteristics of the choroid plexuses could be a prominent feature in other pathologic conditions, such as the acrania/anencephaly sequence, posterior fossa cysts (Dandy‐Walker malformation), and large cephaloceles. link. and you may need to create a new Wiley Online Library account. People also love these ideas 1 This condition is invariably associated with a wide range of midfacial defects ranging from a single incisor to cyclopia. Foetuses who survive during intrauterine life are born with varying grades of brain and facial deformities. 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. Cross‐sectional view of the fetal brain at 11 weeks 5 days' menstrual age showing the characteristic butterfly appearance of the choroid plexuses. 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. During the study period, 378 women considered at risk for chromosomal defects underwent first‐trimester CVS at a median gestational age of 12 weeks (range, 11–14 weeks). Textbook of Perinatal Medicine, Second Edition. Monosomy 18p Presenting With Holoprosencephaly and Increased Nuchal Translucency in the First Trimester. Delivery: Standard obstetric care and delivery. AJR Am J Roentgenol. Evaluation of the Fetal Face in the First Trimester. In all the remaining 375 cases, the butterfly sign was identified, and none of the fetuses proved to have holoprosencephaly. J Ultrasound Med 2000;19:315-21. 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. 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. The fetal karyotype was obtained from short‐ and long‐term cultures of chorionic villi with the use of standard cytogenetic techniques. After informed consent was obtained, CVS was performed transabdominally under continuous sonographic guidance using the freehand technique. An antenatal ultrasound study, at 32 weeks pregnancy, raised the suspicion of a brain malformation, but it was suboptimal due to maternal habitus. Although the prenatal diagnosis of holoprosencephaly in the first trimester has been reported by several authors,710 to our knowledge, no reports on the systematic evaluation of the choroid plexuses for the screening of holoprosencephaly have been described thus far. A total of 378 consecutive pregnancies undergoing chorionic villus sampling between 11 and 14 weeks' gestation were scanned before the procedure, following the recommendations of the Fetal Medicine Foundation (London, England). Taiwanese Journal of Obstetrics and Gynecology. This is a retrospective cohort study of holoprosencephaly cases referred to the Fetal Medicine Unit at University College London Hospital from June 1991 to June 2006 for a detailed ultrasound scan. Kline-Fath BM, Calvo-Garcia MA. Three ranges of increasing severity are described: lobar, semi-lobar and alobar HPE. Below are brief descriptions of the three main types. 762 J Ultrasound Med 23:761–765, 2004 First-Trimester Sonographic Diagnosis of Holoprosencephaly Figure 1.Cross-sectional view of the fetal brain at 11 weeks 5 days’ menstrual age showing the characteristic butterfly appearance of the choroid plexuses. The basic structure of the cerebral hemispheres is lost, with variable amounts of residual cortex. ADVERTISEMENT: Supporters see fewer/no ads, Please Note: You can also scroll through stacks with your mouse wheel or the keyboard arrow keys. Prenatal karyotyping revealed trisomy 13 in 2 cases and a ring chromosome 13 in the other. proved to have holoprosencephaly. diagnosis of alobar holoprosencephaly by two-dimensional and three-dimensional ultrasound. Saved by Brittany Wallace. Holoprosencephaly Ahmed Amdihun Essa, Lakachew Asrade Feleke, Dawed Muhammed Ahmed, Semilobar holoprosencephaly with cebocephaly associated with maternal early onset preeclampsia: a case report, Journal of Medical Case Reports, 10.1186/s13256-018-1647-6, 12, 1, (2018). US features of the normal appendix and surrounding area in children. Pediatric Radiology How To Dr Ultrasound Sonography Ultrasound Technician Radiology Imaging School Motivation Science Biology Nclex Pharmacology. 1. This series suggests that failure to identify the butterfly sign is a warning sign of holoprosencephaly in the first trimester. Prenatal Sonographic Features of Trisomy 13. There were 9 false negative in utero MRI findings. Ultrasonography in Obstetrics and Gynecology. Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. BACKGROUND AND PURPOSE: Holoprosencephaly is a rare developmental brain abnormality with a range of severity. Methods A database of 1750 fetuses with congenital anom-alies identified by ultrasound was prospectively collected from 1987 to 2000. MESH Holoprosencephaly BDE 0473 MIM autosomal dominant 142945, autosomal recessive 236100 and X-linked recessive 306990 ICD9 742.2 CDC 742.260 Images 1, 2: Fetal face by ultrasound (coronal and axial - 18 weeks) shows small head and protuberant orbits. Relationship Between Cavum Septi Pellucidi Measurements and Fetal Hypoplastic Left Heart Syndrome or Dextro‐Transposition of the Great Arteries. Three-Dimensional Ultrasound of Fetal Orofacial Anomalies. Prenat Diagn. The pregnancy miscarried at 23 weeks. Nevertheless, when the sonographic diagnosis is uncertain in cases shuch as maternal obesity, fetal size and position, the MR imaging can be helpful. (2007) ISBN:041541444X. Hypertelorism, which is increased interocular distance, is rarely associated with chromosomal … Pathology-Based Diagnoses. Holoprosencephaly. 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. Therefore, these preliminary data suggest that the routine sonographic evaluation of the butterfly sign at the time of nuchal translucency thickness measurement may be useful for the early prenatal diagnosis of holoprosencephaly, both in high‐ and low‐risk populations. American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 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. 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