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. As part of our routine examination of the fetal anatomy in fetuses at 11 to 14 weeks' gestation, the butterfly sign was consistently looked for in our study. 2. Semilobar holoprosencephaly with associated cyclopia and radial aplasia: first trimester diagnosis by means of integrating 2D–3D ultrasound. Monosomy 18p Presenting With Holoprosencephaly and Increased Nuchal Translucency in the First Trimester. MESH Holoprosencephaly BDE 0473 MIM autosomal dominant 142945, autosomal recessive 236100 and X-linked recessive 306990 ICD9 742.2 CDC 742.260 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. The basic structure of the cerebral hemispheres is lost, with variable amounts of residual cortex. Ultrasound Screening for Fetal Abnormalities in the First Trimester. 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. 1. Neuroimaging advances in holoprosencephaly: Refining the spectrum of the midline malformation. St. Clair Hospital Medical Imaging Department. In the other, the diagnosis was incidentally made during sonographic evaluation of the fetal anatomy before CVS. Filly RA, Chinn DH, Callen PW. A twenty-year-old second gravida presented to the department of radiodiagnosis for routine obstetric ultrasound examination. and you may need to create a new Wiley Online Library account. Ultrasound is a good modality for prenatal diagnosis of holoprosencephaly that is frequently associated with midline face deformity such as cleft lip and palate. Note the hypotelorism. In: Dewbury K, Meire H, Cosgrove D (eds.). Etiologic heterogeneity is well documented. St. Clair Hospital Third Floor 1000 Bower Hill Road Pittsburgh, PA 15243 (Mt. 5. Syntelencephaly, a lesser known variant of holoprosencephaly. Byrd SE, Harwood-Nash DC, Fitz CR, Rogovitz DM. Early detection of fetal structural abnormalities. Department of Radiology and Neonatology of the Wilhelmina Children's Hospital and the University Medical Centre of Utrecht, the Netherlands. Holoprosencephaly Prenat Diagn. Stashinko EE, Clegg NJ, Kammann HA et al. Both pregnancies associated with trisomy 13 were terminated abroad. Detailed ultrasound examination, including neurosonography. 1984;151 (2): 455-9. Prenatal detection of holoprosencephaly has improved in the last 20 years. In mild cases, the condition may not be diagnosed until after birth. The pregnancy miscarried at 23 weeks. Pam Loughna, Developmental Abnormalities of the Brain Shown by Ultrasound, Imaging the Central Nervous System of the Fetus and Neonate, 10.3109/9781420016475, (71-80), (2006). Follow up: If pregnancy continues, follow-up should be standard. Crossref , Medline , Google Scholar A preterm baby girl born at 33 weeks’ gestation to a mother with maternal diabetes and a history of perinatal cocaine-use was diagnosed prenatally with midline interhemispheric variant (MIHV) of holoprosencephaly via ultrasonography and fetal MRI at 19 weeks’ gestation. Classic holoprosencephaly spectrum includes alobar, semilobar, and lobar forms, with decreasing severity from alobar to lobar forms (3). 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. Nail Bulakbasi, Osman Cancuri, Murat Kocaoğlu, The middle interhemispheric variant of holoprosencephaly: magnetic resonance and diffusion tensor imaging findings, The British Journal of Radiology, 10.1259/bjr.20160115, 89, 1063, (20160115), (2016). Radiology 1987;165:15-8. 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). Medline, Google Scholar; 7. Holoprosencephaly: A Survey of the Entity, with Embryology and Fetal Imaging. F : (a) Coronal ultrasound image showing the fused thalami in the centre and large monoventricle (thick white arrow). Congenital Malformations. Developed by renowned radiologists in each specialty, STATdx provides comprehensive decision support you can rely on - Holoprosencephaly. A cross‐sectional view of the fetal brain, including the visualization of both choroid plexuses (the “butterfly” sign), was obtained in all cases. Saved by Brittany Wallace. Radiographics 2015; 35:275-290. In some cases, it can potentially identify affected fetuses in the first trimester. AJNR Am J Neuroradiol 2002; 23:151-155. Relationship Between Cavum Septi Pellucidi Measurements and Fetal Hypoplastic Left Heart Syndrome or Dextro‐Transposition of the Great Arteries. Alobar holoprosencephaly: ultrasonographic prenatal diagnosis. So, routine prenatal ultrasound should be carried out in all patients during this period. Case 2: cross‐sectional view of the fetal brain in a fetus with trisomy 13 at 12 weeks 4 days showing the absence of the butterfly sign. 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 Three-Dimensional Ultrasound of Fetal Orofacial Anomalies. However, in 2 other series involving a total of 4485 low‐risk pregnancies undergoing first‐trimester sonographic screening for nuchal translucency measurements, all 3 cases of holoprosencephaly were diagnosed in the first trimester.18,19 Although no specific method for achieving this diagnosis was reported by the authors, the latter 2 groups followed the recommendation of the Fetal Medicine Foundation,4,5 as we did. Features include 1-4: 1. absence of septum pellucidum 2. monoventricle with partially developed occipital and temporal horns 3. rudimentary falx c… Among them, 30 cases (1.7%) with holo-prosencephaly were prenatally identified and described. Objective. V Disorders of prosencephalic development. Intracranial and extra­ cranial findings were reviewed to determine the accuracy and spectrum of the sono­ graphic features. 2 Prenatal diagnosis of holoprosencephaly is usually made in the second trimester by the … Pathology-Based Diagnoses. Wiersma F, Sramek A, Holscher HC. A Short Explanation into the Disorder of Holoprosencephaly (HPE) ... Radiology Teaching By radguru.net 2,945 views. 2000;20: 400–403. Biparietal Diameter–to–Crown‐Rump Length Disproportion in First‐Trimester Fetuses With Holoprosencephaly.