Citation, DOI & article data
Edwards syndrome, also known as trisomy 18, along with Down syndrome (trisomy 21) and Patau syndrome (trisomy 13), make up the only three autosomal trisomies to be compatible with extrauterine life in non-mosaic forms, albeit in the case of Edward syndrome only for a week or so.
After Down syndrome, it is the second most common autosomal trisomy and the overall incidence is estimated to be at ~1:3000-8000. There is an increase in incidence with increasing maternal age.
Trisomy 18 fetuses can have multiple anomalies in multiple systems. Over 130 features have been reported. Out of the three main trisomies, this trisomy has the highest incidence of major structural anomalies. Features include:
- congenital heart disease: 90-95%
- central nervous system or spinal abnormalities: 70%
- intrauterine growth restriction (IUGR): 60-90% (tends to occur from early in gestation)
- facial/calvarial abnormalities
- cystic hygroma: ~20%
- skeletal abnormalities
- umbilical cord
- gastrointestinal: thoracic anomalies
- renal anomalies
The following serological markers (often termed a triple screen) are generally lower than expected for that of pregnancy:
Treatment and prognosis
The syndrome carries an extremely poor prognosis with a mean infant survival of 48 days 4. The risk of recurrence for a future pregnancy is ~1% greater than that adjusted for maternal age 7.
History and etymology
The syndrome was first described by John Hilton Edwards (1928–2007), a British medical geneticist 8. Historically it was also called E-trisomy or trisomy E 9,10.
- 1. Johnson PT, Kurtz AB. Obstetric and gynecologic ultrasound, case review. Mosby Inc. (2001) ISBN:0323008607. Read it at Google Books - Find it at Amazon
- 2. Weissleder R, Wittenberg J, Harisinghani MG et-al. Primer of diagnostic imaging. Mosby Inc. (2007) ISBN:0323040683. Read it at Google Books - Find it at Amazon
- 3. Kumar P, Burton BK. Congenital malformations, evidence-based evaluation and management. McGraw-Hill Professional. (2007) ISBN:0071471898. Read it at Google Books - Find it at Amazon
- 4. Yonehara T, Hata T, Aoki S. Three-dimensional sonography in diagnosing trisomy 18. AJR Am J Roentgenol. 1998;171 (4): 1165-6. AJR Am J Roentgenol (citation) - Pubmed citation
- 5. Zheng Y, Zhou XD, Zhu YL et-al. Three- and 4-dimensional ultrasonography in the prenatal evaluation of fetal anomalies associated with trisomy 18. J Ultrasound Med. 2008;27 (7): 1041-51. J Ultrasound Med (full text) - Pubmed citation
- 6. Epelman M, Daneman A, Blaser SI et-al. Differential diagnosis of intracranial cystic lesions at head US: correlation with CT and MR imaging. Radiographics. 26 (1): 173-96. doi:10.1148/rg.261055033 - Pubmed citation
- 7. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
- 8. John Hilton Edwards 1928–2007. (2007) Nature Genetics. 39 (12): 1417. doi:10.1038/ng1207-1417
- 9. Weber FM, Sparkes RS. Trisomy E (18) syndrome: clinical spectrum in 12 new cases, including chromosome autoradiography in 4. (1970) Journal of medical genetics. 7 (4): 363-6. doi:10.1136/jmg.7.4.363 - Pubmed
- 10. Poon CC, Wong TT, Chan MC, Wong HB. Letter: 11 pairs of ribs in E-trisomy. (1975) Archives of disease in childhood. 50 (1): 84. doi:10.1136/adc.50.1.84-a - Pubmed