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Trisomy 18 Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

Edwards et al. and Smith et al. independently described trisomy 18 syndrome in 1960 (Edwards et al. 1960; Smith et al. 1960). It is the second most common autosomal trisomy after trisomy 21. Prevalence is approximately 1 in 6,000–8,000 live births.

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References

  • Adler, B., & Kushnick, T. (1982). Genetic counseling in prenatally diagnosed trisomy 18 and 21: Psychosocial aspects. Pediatrics, 69, 94–99.

    CAS  PubMed  Google Scholar 

  • Alizad, A., & Seward, J. B. (2000). Echocardiographic features of genetic diseases: part 7. Complex genetic disorders. Journal of the American Society of Echocardiography, 13, 707–714.

    Article  CAS  PubMed  Google Scholar 

  • Bass, H. N., Fox, M., Wulfsberg, E., et al. (1982). Trisomy 18 mosaicism: Clues to the diagnosis. Clinical Genetics, 22, 327–330.

    Article  CAS  PubMed  Google Scholar 

  • Baty, B. J., Blackburn, B. L., & Carey, J. C. (1994a). Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. American Journal of Medical Genetics, 49, 175–188.

    Article  CAS  PubMed  Google Scholar 

  • Baty, B. J., Jorde, L. B., & Blackburn, B. L. (1994b). Natural history of trisomy 18 and trisomy 13: II. Psychomotor development. American Journal of Medical Genetics, 49, 189–194.

    Article  CAS  PubMed  Google Scholar 

  • Benacerraf, B. R., Miller, W. A., & Frigoletto Jr., F. D. (1988). Sonographic detection of fetuses with trisomies 13 and 18: Accuracy and limitations. American Journal of Obstetrics and Gynecology, 158, 404–409.

    Article  CAS  PubMed  Google Scholar 

  • Bersu, E. T., & Ramirez-Castro, J. L. (1977). Anatomical analysis of the developmental effects of aneuploidy in man - the 18-trisomy syndrome: I. Anomalies of the head and neck. American Journal of Medical Genetics, 1, 173–193.

    Article  CAS  PubMed  Google Scholar 

  • Biagiotti, R., Cariati, E., & Brizzi, L. (1998). Maternal serum screening for trisomy 18 in the first trimester of pregnancy. Prenatal Diagnosis, 18, 907–913.

    Article  CAS  PubMed  Google Scholar 

  • Bruns, D. A. (2015). Developmental status of 22 children with trisomy 18 and eight children with trisomy 13: implications and recommendations. American Journal of Medical Genetics Part A, 9999, 1–9.

    Google Scholar 

  • Bugge, M., Collins, A., Petersen, M. B., et al. (1998). Non-disjunction of chromosome 18. Human Molecular Genetics, 7, 661–669.

    Article  CAS  PubMed  Google Scholar 

  • Carey, J. C. (1992). Health supervision and anticipatory guidance for children with genetic disorders (including specific recommendations for trisomy 21, trisomy 18, and neurofibromatosis I). Pediatric Clinics of North America, 39, 40–43.

    Google Scholar 

  • Carey, J. C. (2000). The trisomy 18 and 13 syndromes. In S. Cassidy & J. Allanson (Eds.), Management of genetic syndromes. New York: Wiley.

    Google Scholar 

  • Carey, J. C, & Barnes, A. M. (2016). Wilms tumor and trisomy 18: Is there an association? American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 9999C, 1–2.

    Google Scholar 

  • Cereda, A., & Carey, J. C. (2012). The trisomy 18 syndrome. Orphanet Journal of Rare Diseases, 7, 1–14.

    Article  Google Scholar 

  • Chen, H. (2011). Trisomy 18. eMedicine from WebMD. Retrieved August 11, 2011. Available at: http://emedicine.medscape.com/article/943463-overview

  • Collins, A. L., Fisher, J., & Crolla, J. A. (1995). Further case of trisomy 18 mosaicism with a mild phenotype (letter). American Journal of Medical Genetics, 56, 121–122.

    Article  CAS  PubMed  Google Scholar 

  • Donovan, J. H., Krigbaum, G., & Bruns, D. A. (2016). Medical interventions and survival by gender of children with trisomy 18. American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 9999C, 1–7.

    Google Scholar 

  • Edwards, J. H., Harnden, D. G., & Cameron, A. H. (1960). A new trisomic syndrome. Lancet, 1, 787–789.

    Article  CAS  PubMed  Google Scholar 

  • Embleton, N. D., Wyllie, J. P., & Wright, M. J. (1996). Natural history of trisomy 18. Archives of Disease in Childhood. Fetal and Neonatal Edition, 75, F38–F41.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Findlay, I., Toth, T., & Matthews, P. (1998). Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: Applications for prenatal diagnosis and preimplantation genetic diagnosis. Journal of Assisted Reproduction and Genetics, 15, 266–275.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ishitsuka, K., Matsui, H., Michihata, N., et al. (2015). Medical procedures and outcomes of Japanese patients with trisomy 18 or trisomy 13: Analysis of a nationwide administrative database of hospitalized patients. American Journal of Medical Genetics Part A, 9999A, 1–6.

    Google Scholar 

  • Janvier, A., Farlow, B., & Wilfond, B. (2012). The experience of families with children with Trisomy 13 and 18 in the social networks. Pediatrics, 130, 293–298.

    Article  PubMed  Google Scholar 

  • Janvier, A., Farlow, B., & Barrington, K. J. (2016). Parental hopes, interventions, and survival of neonates with trisomy 13 and trisomy 18. American Journal of Medical Genetics Part C (Seminars in Medical Genetics), 9999C, 1–9.

    Google Scholar 

  • Kinoshita, M., Nakamura, Y., & Nakano, R. (1989). Thirty-one autopsy cases of trisomy 18: Clinical features and pathological findings. Pediatric Pathology, 9, 445–457.

    Article  CAS  PubMed  Google Scholar 

  • Kjaer, I., Keeling, J. W., & Hansen, B. F. (1996). Pattern of malformations in the axial skeleton in human trisomy 18 fetuses. American Journal of Medical Genetics, 65, 332–336.

    Article  CAS  PubMed  Google Scholar 

  • Kroes, I., Janssens, S., & Defoort, P. (2014). Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. Facts, Views & Vision in ObGyn, 6, 245–249.

    CAS  Google Scholar 

  • Lam, Y. H., & Tang, M. H. (1999). Sonographic features of fetal trisomy 18 at 13 and 14 weeks: four case reports. Ultrasound in Obstetrics & Gynecology, 13, 366–369.

    Article  CAS  Google Scholar 

  • Leporrier, N., Herrou, M., & Herlicoviez, M. (1996). The usefulness of hCG and unconjugated oestriol in prenatal diagnosis of trisomy 18. British Journal of Obstetrics and Gynaecology, 103, 335–338.

    Article  CAS  PubMed  Google Scholar 

  • Mehta, L., Shannon, R. S., Duckett, D. P., et al. (1986). Trisomy 18 in a 13-year-old girl. Journal of Medical Genetics, 23, 256–278.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Nicolaides, K. H., Azar, G., & Byrne, D. (1992). Fetal nuchal translucency: Ultrasound screening for chromosome defects in the first trimester of pregnancy. British Medical Journal, 304, 704–707.

    Google Scholar 

  • Niknejadi, M., Ahmadi, F., Akhbari, F., et al. (2014). Sonographic findings in partial type of trisomy 18. International Journal of Fertility and Sterility, 7, 349–352.

    PubMed  Google Scholar 

  • Nyberg, D. A., Kramer, D., & Resta, R. G. (1993). Prenatal sonographic findings of trisomy 18: Review of 47 cases. Journal of Ultrasound in Medicine, 2, 103–113.

    Google Scholar 

  • Porreco, R. P., Garite, T. J., Maurel, K., et al. (2014). Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. American Journal of Obstetrics and Gynecology, 211, e1–12.

    Article  Google Scholar 

  • Ramirez-Castro, J. L., & Bersu, E. T. (1978). Anatomical analysis of the developmental effects of aneuploidy in man - the 18-trisomy syndrome: II Anomalies of the upper and lower limbs. American Journal of Medical Genetics, 2, 285–306.

    Article  CAS  PubMed  Google Scholar 

  • Ries, M. D., Ray, S., Winter, R. B., et al. (1990). Scoliosis in trisomy 18. Spine, 15, 1281–1284.

    Article  CAS  PubMed  Google Scholar 

  • Rosa, R. F. M., Rosa, R. C. M., Lorenzen, M. B., et al. (2013). Craniofacial abnormalities among patients with Edwards Syndrome. Revista Paulista de Pediatria, 31, 293–298.

    Article  PubMed  PubMed Central  Google Scholar 

  • Santorum, M., Wright, D., Syngelaki, A., et al. (2016). Accuracy of first trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound in Obstetrics & Gynecology, 2016 August 23. [Epub ahead of print]

    Google Scholar 

  • Sepulveda, W., Wong, A. E., & Dezerega, V. (2010). First-trimester sonographic findings in trisomy 18: A review of 53 cases. Prenatal Diagnosis, 30, 256–259.

    PubMed  Google Scholar 

  • Shields, L. E., Carpenter, L. A., & Smith, K. M. (1998). Ultrasonographic diagnosis of trisomy 18: Is it practical in the early second trimester? Journal of Ultrasound in Medicine, 17, 327–331.

    CAS  PubMed  Google Scholar 

  • Smith, A., Field, B., & Learoyd, B. M. (1989). Trisomy 18 at 21 years. American Journal of Medical Genetics, 34, 338–339.

    Article  CAS  PubMed  Google Scholar 

  • Smith, D. W., Patau, K., & Therman, E. (1960). A new autosomal trisomy syndrome: Multiple congenital anomalies caused by an extra chromosome. Journal of Pediatrics, 57, 338–345.

    Article  CAS  PubMed  Google Scholar 

  • Smith, A., Silink, M., Ruxton, T., et al. (1978). Trisomy 18 in an 11-year-old child. Journal of Mental Deficiency Research, 22, 277–286.

    CAS  PubMed  Google Scholar 

  • Surana, R. B., Bain, H. W., & Conen, P. E. (1972). 18 trisomy in a 15-year-old girl. American Journal of Diseases of Children, 123, 75–77.

    CAS  PubMed  Google Scholar 

  • Tadaki, T., Kamiyama, R., Okamura, H. O., et al. (2003). Anomalies of the auditory organ in trisomy 18 syndrome: Human temporal bone histopathological study. Journal of Laryngology and Otology, 117, 580–583.

    Article  PubMed  Google Scholar 

  • Taylor, A. I. (1968). Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards’ syndrome and 27 cases of Patau’s syndrome. Journal of Medical Genetics, 5, 227–252.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Van Dyke, D. C., & Allen, M. (1990). Clinical management considerations in long-term survivors with trisomy 18. Pediatrics, 85, 753–759.

    CAS  PubMed  Google Scholar 

  • Weber, W. W., Mamues, P., Day, R., et al. (1964). Trisomy 17-18(E): Studies in long-term survival with reports of two autopsied cases. Pediatrics, 34, 533–541.

    CAS  PubMed  Google Scholar 

  • Zheng, Y., Tzhou, X.-D., Zhu, Y.-L., et al. (2008). Three- and 4-dimensional ultrasonography in the prenatal evaluation of fetal anomalies associated with trisomy 18. Journal of Ultrasound in Medicine, 27, 1041–1051.

    PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2016). Trisomy 18 Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_236-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_236-2

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  • Online ISBN: 978-1-4614-6430-3

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