Book contents
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Neural Tube Defects and Patterning Defects
- Hydrocephalus
- Neuronal Migration Disorders
- Genetic Syndromes and Phakomatoses
- Chapter 41 Fragile X Syndrome
- Chapter 42 Down Syndrome - Trisomy 21
- Chapter 43 Edwards Syndrome - Trisomy 18
- Chapter 44 Patau Syndrome - Trisomy 13
- Chapter 45 Tuberous Sclerosis Complex
- Chapter 46 Sturge-Weber Syndrome
- Chapter 47 Neurocutaneous Melanosis
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Chapter 43 - Edwards Syndrome - Trisomy 18
from Genetic Syndromes and Phakomatoses
Published online by Cambridge University Press: 07 August 2021
Book contents
- Perinatal Neuropathology
- Perinatal Neuropathology
- Copyright page
- Contents
- Preface
- Acknowledgments
- Abbreviations
- Section I Techniques and Practical Considerations
- Section 2 Human Nervous System Development
- Section 3 Stillbirth
- Section 4 Disruptions / Hypoxic-Ischemic Injury
- Section 5 Malformations
- Neural Tube Defects and Patterning Defects
- Hydrocephalus
- Neuronal Migration Disorders
- Genetic Syndromes and Phakomatoses
- Chapter 41 Fragile X Syndrome
- Chapter 42 Down Syndrome - Trisomy 21
- Chapter 43 Edwards Syndrome - Trisomy 18
- Chapter 44 Patau Syndrome - Trisomy 13
- Chapter 45 Tuberous Sclerosis Complex
- Chapter 46 Sturge-Weber Syndrome
- Chapter 47 Neurocutaneous Melanosis
- Section 6 Perinatal Neurooncology
- Section 7 Spinal and Neuromuscular Disorders
- Section 8 Eye Disorders
- Section 9 Infections: In Utero Infections
- Section 10 Metabolic / Toxic Disorders: Storage Diseases
- Section 11 Forensic Neuropathology
- Appendix 1 Technical Considerations in Perinatal CNS
- Index
- References
Summary
Edwards syndrome (ES) or trisomy 18 is a chromosomal disorder caused by the presence of an extra copy of chromosome 18 in some or all body cells. The syndrome was first recognized and described in 1960 by a British physician, John H. Edwards, professor of genetics at Birmingham and Oxford [1]. Although a rare disease, ES is the second most common chromosomal aberration after Down syndrome. Trisomy 18 is associated with multiple malformations, which are often incompatible with life, combined with psychomotor and cognitive disability. The prevalence of trisomy 18 varies between 1 in 3,000 to 1 in 8,000 live births. Due to the higher frequency of male fetuses’ loss and better survival of females with ES, the male to female ratio is 1:3. The risk of developing ES increases with the maternal age [2, 3, 4].
- Type
- Chapter
- Information
- Perinatal Neuropathology , pp. 265 - 268Publisher: Cambridge University PressPrint publication year: 2021
References
Mudaliyar, US, Mudaliyar, SU. Strawberry skull in Edwards’ syndrome. BJR Case Rep. 2017;3(4):20170045.Google Scholar
Weber, WW. Survival and the sex ratio in trisomy 17–18. Am J Hum Genet. 1967; 19 (3 Pt 2): 369–77.Google ScholarPubMed
Savva, GM, Walker, K, Morris, JK. The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome). Prenat Diagn. 2010;30(1):57–64.Google Scholar
Cereda, A, Carey, JC. The trisomy 18 syndrome. Orphanet J Rare Dis. 2012;7:81.CrossRefGoogle ScholarPubMed
Carey, JC, Kosho, T. Perspectives on the care and advances in the management of children with trisomy 13 and 18. Am J Med Genet C Semin Med Genet. 2016;172(3):249–50.Google Scholar
Epelman, M, Daneman, A, Blaser, SI, Ortiz-Neira, C, Konen, O, Jarrín, J, et al. Differential diagnosis of intracranial cystic lesions at head US: correlation with CT and MR imaging. Radiographics. 2006;26(1):173–96.CrossRefGoogle ScholarPubMed
Ostlere, SJ, Irving, HC, Lilford, RJ. Fetal choroid plexus cysts: a report of 100 cases. Radiology. 1990;175(3):753–5.Google Scholar
Kinoshita, M, Nakamura, Y, Nakano, R, Morimatsu, M, Fukuda, S, Nishimi, Y, Hashimoto, T. Thirty-one autopsy cases of trisomy 18: clinical features and pathological findings. Pediatr Pathol. 1989;9(4):445–57.Google Scholar
Irving, C, Richmond, S, Wren, C, Longster, C, Embleton, ND. Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years. J Matern Fetal Neonatal Med. 2011;24(1):137–41.Google Scholar
Breathnach, FM, Malone, FD, Lambert-Messerlian, G, Cuckle, HS, Porter, TF, Nyberg, DA, et al. First- and second-trimester screening: detection of aneuploidies other than Down syndrome. Obstet Gynecol. 2007;110(3):651–7.Google Scholar
Staples, AJ, Robertson, EF, Ranieri, E, Ryall, RG, Haan, EA. A maternal serum screen for trisomy 18: an extension of maternal serum screening for Down syndrome. Am J Hum Genet. 1991;49(5):1025–33.Google Scholar
Sumi, SM. Brain malformations in the trisomy 18 syndrome. Brain. 1970;93(4):821–30.CrossRefGoogle ScholarPubMed
Miyata, H, Miyata, M, Ohama, E. Pyramidal tract abnormalities in the human fetus and infant with trisomy 18 syndrome. Neuropathology. 2014;34(3):219–26.CrossRefGoogle ScholarPubMed
Taylor-Phillips, S, Freeman, K, Geppert, J, Agbebiyi, A, Uthman, OA, Madan, J, et al. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open. 2016;6(1):e010002.Google Scholar
Andrews, SE, Downey, AG, Showalter, DS, Fitzgerald, H, Showalter, VP, Carey, JC, Hulac, P. Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes. Am J Med Genet C Semin Med Genet. 2016;172(3):257–63.Google Scholar
Yamagishi, H. Cardiovascular surgery for congenital heart disease associated with trisomy 18. Gen Thorac Cardiovasc Surg. 2010;58(5):217–19.CrossRefGoogle ScholarPubMed