Diagnostic Considerations

These include the following:

Fetal akinesia sequence
Trisomy 13
Pena-Shokeir syndrome type I
Genomic dosage anomalies
Other autosomal trisomies and monosomies

Differential Diagnoses

Workup

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Edwards JH, Harnden DG, Cameron AH, et al. A new trisomic syndrome. Lancet. 1960 Apr 9. 1:787-90. [QxMD MEDLINE Link].
Smith DW, Patau K, Therman E, Inhorn SL. A new autosomal trisomy syndrome: multiple congenital anomalies caused by anextra chromosome. J Pediatr. 1960 Sep. 57:338-45. [QxMD MEDLINE Link].
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 Nov. 49(5):1025-33. [QxMD MEDLINE Link]. [Full Text].
Perni SC, Predanic M, Kalish RB, Chervenak FA, Chasen ST. Clinical use of first-trimester aneuploidy screening in a United States population can replicate data from clinical trials. Am J Obstet Gynecol. 2006 Jan. 194(1):127-30. [QxMD MEDLINE Link].
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Meyer RE, Liu G, Gilboa SM, et al. Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study. Am J Med Genet A. 2015 Dec 10. [QxMD MEDLINE Link].
Kelly M, Robinson BW, Moore JW. Trisomy 18 in a 20-year-old woman. Am J Med Genet. 2002 Nov 1. 112(4):397-9. [QxMD MEDLINE Link].
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Shanske AL. Trisomy 18 in a second 20-year-old woman. Am J Med Genet A. 2006 May 1. 140(9):966-7. [QxMD MEDLINE Link].
Tamaki S, Iwatani S, Izumi A, et al. Improving survival in patients with trisomy 18. Am J Med Genet A. 2022 Apr. 188 (4):1048-55. [QxMD MEDLINE Link].
Embleton ND, Wyllie JP, Wright MJ, et al. Natural history of trisomy 18. Arch Dis Child Fetal Neonatal Ed. 1996 Jul. 75(1):F38-41. [QxMD MEDLINE Link].
Nicolaidis P, Petersen MB. Origin and mechanisms of non-disjunction in human autosomal trisomies. Hum Reprod. 1998 Feb. 13(2):313-9. [QxMD MEDLINE Link]. [Full Text].
Crider KS, Olney RS, Cragan JD. Trisomies 13 and 18: population prevalences, characteristics, and prenatal diagnosis, metropolitan Atlanta, 1994-2003. Am J Med Genet A. 2008 Apr 1. 146(7):820-6. [QxMD MEDLINE Link].
Morris JK, Savva GM. The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A. 2008 Apr 1. 146(7):827-32. [QxMD MEDLINE Link].
Tucker ME, Garringer HJ, Weaver DD. Phenotypic spectrum of mosaic trisomy 18: two new patients, a literature review, and counseling issues. Am J Med Genet A. 2007 Mar 1. 143(5):505-17. [QxMD MEDLINE Link].
Carey JC. Trsiomy 18 and trisomy 13 syndromes. Cassidy SB, Allanson JE. Management of Genetic Syndromes. 2nd. New York, NY: Wiley-Liss; 2005. 555-68.
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Caughey AB, Hopkins LM, Norton ME. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol. 2006 Sep. 108(3 Pt 1):612-6. [QxMD MEDLINE Link].
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ACOG Committee on Practice Bulletins. Practice Bulletin No. 163 Summary: Screening for Fetal Aneuploidy. Obstet Gynecol. 2016 May. 127 (5):979-81. [QxMD MEDLINE Link].
Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997 Aug 16. 350(9076):485-7. [QxMD MEDLINE Link].
Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Apr. 206(4):322.e1-5. [QxMD MEDLINE Link].
Wiedmeier SE, Henry E, Christensen RD. Hematological abnormalities during the first week of life among neonates with trisomy 18 and trisomy 13: data from a multi-hospital healthcare system. Am J Med Genet A. 2008 Feb 1. 146(3):312-20. [QxMD MEDLINE Link].
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Zheng Y, Zhou XD, Zhu YL, Wang XL, Qian YQ, Lei XY. Three- and 4-dimensional ultrasonography in the prenatal evaluation of fetal anomalies associated with trisomy 18. J Ultrasound Med. 2008 Jul. 27(7):1041-51. [QxMD MEDLINE Link].
Lin HY, Lin SP, Chen YJ, et al. Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988-2004. Am J Med Genet A. 2006 May 1. 140(9):945-51. [QxMD MEDLINE Link].
Lorenz JM, Hardart GE. Evolving medical and surgical management of infants with trisomy 18. Curr Opin Pediatr. 2014 Apr. 26 (2):169-76. [QxMD MEDLINE Link].
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Kosho T, Nakamura T, Kawame H, Baba A, Tamura M, Fukushima Y. Neonatal management of trisomy 18: clinical details of 24 patients receiving intensive treatment. Am J Med Genet A. 2006 May 1. 140(9):937-44. [QxMD MEDLINE Link].
Subramaniam A, Jacobs AP, Tang Y, et al. Trisomy 18: A single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention. Am J Med Genet A. 2016 Apr. 170A (4):838-46. [QxMD MEDLINE Link].
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Starr LJ, Sanmann JN, Olney AH, Wandoloski M, Sanger WG, Coulter DW. Occurrence of nephroblastomatosis with dup(18)(q11.2-q23) implicates trisomy 18 tumor screening protocol in select patients with 18q duplication. Am J Med Genet A. 2014 Apr. 164A(4):1079-82. [QxMD MEDLINE Link].
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Media Gallery

Note the microphthalmia, micrognathia/retrognathia, microstomia, low-set/malformed ears, short sternum, and abnormally clenched fingers in an infant with trisomy 18 (Edwards syndrome).
This photo depicts the elongated skull, prominent occiput, low-set ear, micrognathia/retrognathia, short neck, and characteristic finger-grasping pattern in an infant with trisomy 18 (Edwards syndrome).
Note the characteristic clenched hand of trisomy 18 (Edwards syndrome) with the index finger overriding the middle finger and the fifth finger overriding the fourth finger.
This photo demonstrates a G-banded karyotype showing 47,XY,+18.
Note the rocker-bottom foot with a prominent calcaneus in an infant with trisomy 18 (Edwards syndrome).
This photo shows the hands of a fetus with trisomy 18 (Edwards syndrome). Note that hands typically present with overlapping digits, in which the second and fifth fingers override the third and fourth fingers, respectively. The overall posturing of the wrists and fingers in this fetus is suggestive of contractures.

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Author

Mithilesh Kumar Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK) Consultant Neonatologist, Clinical Director for Neonatal Services, Associate Medical Director (Revalidation), The James Cook University Hospital, South Tees Foundation NHS Trust; UK Chair, Theory MRCPCH Exams, Senior Clinical MRCPCH Examiner, Royal College of Pediatrics and Child Health (UK)

Mithilesh Kumar Lal, MD, MBBS, MRCP, FRCPCH, MRCPCH(UK) is a member of the following medical societies: American Pediatric Society, Society for Pediatric Research, British Association of Perinatal Medicine, British Medical Association, Neonatal Society, Nepal Medical Association, Royal College of Paediatrics and Child Health, Royal College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Luis O Rohena, MD, PhD, FAAP, FACMG Deputy Chief, Department of Pediatrics, Chief, Medical Genetics, San Antonio Military Medical Center; Associate Professor of Pediatrics, Uniformed Services University of the Health Sciences, F Edward Hebert School of Medicine; Associate Professor of Pediatrics, University of Texas Health Science Center at San Antonio

Luis O Rohena, MD, PhD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American Chemical Society, American College of Medical Genetics and Genomics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Additional Contributors

Michael Fasullo, PhD Senior Scientist, Ordway Research Institute; Associate Professor, State University of New York at Albany; Adjunct Associate Professor, Center for Immunology and Microbial Disease, Albany Medical College

Michael Fasullo, PhD is a member of the following medical societies: Radiation Research Society, American Society for Biochemistry and Molecular Biology, Genetics Society of America, Environmental Mutagenesis and Genomics Society

Disclosure: Nothing to disclose.

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

Sections Trisomy 18
Overview
Presentation
- History
- Physical
- Causes
- Show All
DDx
Workup
Treatment
Medication
Follow-up
Media Gallery
References

Trisomy 18 Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

References

Tables

Contributor Information and Disclosures

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