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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
TERMINOLOGY
Abbreviations
Trisomy 18 (T18)
Synonyms
Edwards syndrome
Definitions
Autosomal trisomy of chromosome 18
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Glinianaia SV et al: Long-term survival of children born with congenital anomalies: a systematic review and meta-analysis of population-based studies. PLoS Med. 17(9):e1003356, 2020
Becker DA et al: Sensitivity of prenatal ultrasound for detection of trisomy 18. J Matern Fetal Neonatal Med. 32(22):3716-22, 2019
Goel N et al: Trisomy 13 and 18-prevalence and mortality-a multi-registry population based analysis. Am J Med Genet A. 179(12):2382-92, 2019
Hartwig TS et al: Non-invasive prenatal testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting - factors of importance for correct interpretation of results. Eur J Obstet Gynecol Reprod Biol. 226:35-9, 2018
Revello R et al: Screening for trisomies by cell-free DNA testing of maternal blood: consequences of failed result. Ultrasound Obstet Gynecol. 47(6):698-704, 2016
Subramaniam A et al: Trisomy 18: a single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention. Am J Med Genet A. 170A(4):838-46, 2016
Wagner P et al: First-trimester screening for trisomy 18, 13, triploidy and Turner syndrome by a detailed early anomaly scan. Ultrasound Obstet Gynecol. 48(4):446-51, 2016
Meyer RE et al: Survival of children with trisomy 13 and trisomy 18: a multi-state population-based study. Am J Med Genet A. 170(4):825-37, 2015
Russo FM et al: Parental counseling in trisomy 18: novel insights in prenatal features and postnatal survival. Am J Med Genet A. 170(2):329-36, 2015
De Souza E et al: Recurrence risks for trisomies 13, 18, and 21. Am J Med Genet A. 149A(12):2716-22, 2009
Bronsteen R et al: Second-trimester sonography and trisomy 18: the significance of isolated choroid plexus cysts after an examination that includes the fetal hands. J Ultrasound Med. 23(2):241-5, 2004
Nicolaides KH: Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 191(1):45-67, 2004
Related Anatomy
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Related Differential Diagnoses
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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Clinical Issues
TERMINOLOGY
Abbreviations
Trisomy 18 (T18)
Synonyms
Edwards syndrome
Definitions
Autosomal trisomy of chromosome 18
IMAGING
General Features
Ultrasonographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Glinianaia SV et al: Long-term survival of children born with congenital anomalies: a systematic review and meta-analysis of population-based studies. PLoS Med. 17(9):e1003356, 2020
Becker DA et al: Sensitivity of prenatal ultrasound for detection of trisomy 18. J Matern Fetal Neonatal Med. 32(22):3716-22, 2019
Goel N et al: Trisomy 13 and 18-prevalence and mortality-a multi-registry population based analysis. Am J Med Genet A. 179(12):2382-92, 2019
Hartwig TS et al: Non-invasive prenatal testing (NIPT) in pregnancies with trisomy 21, 18 and 13 performed in a public setting - factors of importance for correct interpretation of results. Eur J Obstet Gynecol Reprod Biol. 226:35-9, 2018
Revello R et al: Screening for trisomies by cell-free DNA testing of maternal blood: consequences of failed result. Ultrasound Obstet Gynecol. 47(6):698-704, 2016
Subramaniam A et al: Trisomy 18: a single-center evaluation of management trends and experience with aggressive obstetric or neonatal intervention. Am J Med Genet A. 170A(4):838-46, 2016
Wagner P et al: First-trimester screening for trisomy 18, 13, triploidy and Turner syndrome by a detailed early anomaly scan. Ultrasound Obstet Gynecol. 48(4):446-51, 2016
Meyer RE et al: Survival of children with trisomy 13 and trisomy 18: a multi-state population-based study. Am J Med Genet A. 170(4):825-37, 2015
Russo FM et al: Parental counseling in trisomy 18: novel insights in prenatal features and postnatal survival. Am J Med Genet A. 170(2):329-36, 2015
De Souza E et al: Recurrence risks for trisomies 13, 18, and 21. Am J Med Genet A. 149A(12):2716-22, 2009
Bronsteen R et al: Second-trimester sonography and trisomy 18: the significance of isolated choroid plexus cysts after an examination that includes the fetal hands. J Ultrasound Med. 23(2):241-5, 2004
Nicolaides KH: Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 191(1):45-67, 2004
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