Of the 26 cases of holoprosencephaly diagnosed on in utero MR imaging, 12 were not recognized on ultrasonography. Discussion: Typical findings of holoprosencephaly in its alobar form as it's supposed to be imaged in the first trimester. Images 3, 4: 3D ultrasound of the fetal face (18 weeks). Premaxillary agenesis with cleft lip with or without cleft palate are also abnormalities that can be identified by prenatal ultrasonography [2–4]. The findings of the autopsies confirmed the clinical presentations. Ultrasound Obstet Gynecol 19:24–38, 2002.) 7 Importantly, in our series we found that, in 20% (95% CI 4–48%) of women with a confirmed euploid fetus, there was a recurrence of holoprosencephaly. Diagnosis of alobar holoprosencephaly can be made by antenatal ultrasound or fetal MRI; however, postnatal imaging is rarely done because most affected infants are either stillborn or have short life span; Holoprosencephaly is the only congenital brain anomaly in which posterior portion of corpus callosum has formed in absence of anterior portion Knowledge of the range of malformations encountered in holoprosencephaly will help the sonographer accurately identify the findings. Alobar holoprosencephaly: prenatal ultrasound 1st trimester. The Cleft Palate-Craniofacial Journal, 2009. 1 This condition is invariably associated with a wide range of midfacial defects ranging from a single incisor to cyclopia. Of the various types of chromosomal abnormalities, trisomy 13 or a variant of trisomy 13 is the most common (found in 50-75% of those with abnormal karyotype). A. Kuijpers-Jagtman. Prenatal Ultrasound Diagnosis in 51 Cases of Holoprosencephaly - Craniofacial Anatomy, Associated Malformations and Genetics. More like this: First-trimester ultrasound diagnosis of holoprosencephaly: three case reports. Rationale: Holoprosencephaly is a structural malformation of the brain that results from the complete or incomplete noncleavage of the forebrain of the embryo into 2 hemispheres. Interestingly, among them, four cases (16%) presented with the rare agnathia-otocephaly complex. The most common Pathological examination of the fetus confirmed alobar holoprosencephaly. Alobar holoprosencephaly is a subtype of holoprosencephaly (HPE), and is the most severe of the classical three subtypes, with both semilobar and lobar holoprosencephaly having less severe clinical manifestations. Prenat Diagn. Interestingly, among them, four cases (16%) presented with the rare agnathia-otocephaly complex. Ultrasonography revealed a live fetus of 17 weeks with absent falx, fused thalami, monoventricle, proboscis, and cyclopia. Download PDF. Our findings are in agreement with other studies that show holoprosencephaly is associated with chromosomal abnormalities, especially trisomy 13. An early diagnosis of alobar holoprosencephaly at 14 weeks' gestation, employing transvaginal sonography, is reported. Issue Date: 1999: Publisher: John Wiley & Sons Ltd. The pregnancy miscarried at 23 weeks. Apr 30, 2015 - Semilobar Holoprosencephaly: Single ventricular chamber, Rudimentary falx and fissure. Disorders of Diverticulation/Cleavage. Holoprosencephaly is a congenital Induction disorder of the brain occurring at 3-6 weeks' gestation, with failed segmentation of the neural tube. Fetal MRI was performed and the findings were confirmed. Our study illustrates the clinical and genetic heterogeneity of HPE and describes different chromosomal abnormalities associated with HPE. A twenty-year-old second gravida presented to the department of radiodiagnosis for routine obstetric ultrasound examination. We conclude that fetuses with HP can exhibit a spectrum of sonographic findings and that alobar or semilobar HP is reliably distinguished from other causes of fetal hydrocephalus by distinctive intracranial findings. Our findings are compared with prenatal transabdominal sonographic findings of holoprosencephaly which have been reported during the last decade in the literature. A wide spectrum of anatomical variants are characterized by a lack of midline separation of the cerebral hemispheres. Holoprosencephaly: Prenatal Sonographic Diagnosis 871 Fourteen cases of holoprosencephaly (HP), including 10 cases of alobar HP and four cases of semilobar HP, were identified by prenatal sonography. Primacy in the neuropathologic description of HPE is attributed to Kundrat in 1882 (), who used the term arhinencephaly for this entity. An early diagnosis of alobar holoprosencephaly at 14 weeks' gestation, employing transvaginal sonography, is reported. Images 1, 2: Fetal face by ultrasound (coronal and axial - 18 weeks) shows small head and protuberant orbits. A. MRI of alobar holoprosencephaly (holoprosencephaly), the most severe form of holoprosencephaly, characterized by an enlarged midline monoventricle (holoventricle, red/thin arrow) with fusion of the frontal lobes and the midline gray matter structures (thalami and basal ganglia, blue/thick arrow). These sonographic findings suggested a diagnosis of alobar holoprosencephaly (see Figures 1–7). Intracranial and extra­ cranial findings were reviewed to determine the accuracy and spectrum of the sono­ graphic features. Axial imaging of the fetal brain shows fused thalami (Figure 2). The alobar subtype was the most frequently encountered, with 17 cases (68%). Typical findings of holoprosencephaly in its alobar form as it's supposed to be imaged in the first trimester. Modern ultrasound imaging devices have increasingly allowed sophisticated prenatal diagnoses of fetal disorders. Coronal imaging of the brain (Figure 3) demonstrates a monoventrical with lack of interhemispheric fissure and falx cerebri. Diagnosis. ... alobar holoprosencephaly, semilobar holoprosencephaly, lobar holoprosencephaly, aqueduct stenosis, Dandy-Walker continuum, Chiari II ... mainly holoprosencephaly. Congenital Malformations. Our findings are compared with prenatal transabdominal sonographic findings of holoprosencephaly which have been reported during the last decade in the literature. Holoprosencephaly may be associated to other midline defects and may be part of an aneuploidy such a trisomy 13 (Patau's syndrome). Holoprosencephalic patients usually have various form of developmental delay depending upon severity and types. A series of 10 consecutive cases of alobar holoprosencephaly is described. Note the hypotelorism. This paper. Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Holoprosencephaly. A short summary of this paper. (From Blaas H-GK, Eriksson AG, Salvesen KA, et al: Brains and faces in holoprosencephaly: pre- and postnatal description of 30 cases. Two years later, a subse-quent pregnancy was normal. Pathology-Based Diagnoses. Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. There were 9 false negative in utero MRI findings. 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. Typical ultrasound findings of alobar holoprosencephaly are absence of the falx and other midline structures with anterior complete fusion of the lateral ventricles [2–4]. AIM Holoprosencephaly (HPE) is the most common brain malformation. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/2252: Citation US image is a section through the ears, maxilla, and ball-like proboscis (A). We report a severe case of alobar holoprosencephaly diagnosed at 38 weeks, associated with cebocephaly, microcephaly, and craniosynostosis.. Image 5: Ultrasound view of the fetal profile. Prenatal ultrasound findings of holoprosencephaly spectrum: Unusual associations. Third-trimester fetus with alobar HPE and an unusual agnathia-otocephaly variant (B). Embryopathologic and ultrasound findings are reported in five cases of alobar holoprosencephaly that were diagnosed prenatally, two cases as early as 23 menstrual weeks. The other had the rare anatomical finding of a polylobuated spleen. A study of 35 fetuses with holoprosencephaly compared the accuracy of the diagnosis between ultrasound and in utero MRI. Keywords holoprosencephaly , alobar , semilobar , lobar , agenesis of corpus callosum , cyclopia , cebocephaly , midline cleft lip , sonography , prenatal diagnosis Similar findings are expected with the semilobar type. Discussion ETIOLOGY Holoprosencephaly is usually sporadic, and the cause is unknown in most cases.5 It can be caused Because of the poor prognosis of alobar holoprosencephaly, early prenatal diagnosis is rec-ommended. Holoprosencephaly may be associated to other midline defects and may be part of an aneuploidy such a trisomy 13 (Patau's syndrome). The middle interhemispheric variant of alobar holoprosencephaly is featured by relatively well-formed frontal horns that are fused in the midline without the intervening septum pellucidum and communicate posteriorly with a single rudimentary cavity . BPD. link. Holoprosencephaly One of our cases had a clinical picture similar to that of holoprosencephaly-polydactyly syndrome. Patient concern: The main knowledge added by this case is the … Findings. Download Full PDF Package. Apr 3, 2015 - Alobar Holoprosencephaly: "Pancake brain", absent falx, midline facial defects (proboscis etc) Holoprosencephaly is classified into 4 types depending on the degree of involvement of the forebrain and include: alobar, semilobar, lobar and a middle interhemispheric fusion variant. The alobar subtype was the most frequently encountered, with 17 cases (68%). Bookmarks (0) Brain. The obstetric ultrasound images of the fetal face demonstrate a single midline orbit (Figure 1). Aneuploidy is present in 50% to 60% of fetuses with alobar or semilobar holoprosencephaly. Alobar holoprosencephaly with cyclopia. After counseling, the patient decided to ter-minate the pregnancy. Abnormal OB ultrasound, GW 31 + 0. The aim of this study was to assess the ultrasound diagnostic criteria for HPE. Studies that show holoprosencephaly is associated with a wide spectrum of the cases. 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