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Survival with trisomy 18--data from Switzerland
D Niedrist1, M Riegel, J Achermann
1Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. dunja.niedrist@gmx.net
American Journal of Medical Genetics. Part A
|March 11, 2006
Summary
Trisomy 18 (Edwards syndrome) diagnosis increased with prenatal testing. Survival remains low, with most infants dying within days, though females survive longer. Common malformations include heart defects and kidney issues.
Area of Science:
- Genetics
- Medical Science
- Pediatrics
Background:
- Trisomy 18 (Edwards syndrome) is a severe chromosomal disorder.
- Limited data exists on long-term survival and malformation patterns in a defined population.
Purpose of the Study:
- To analyze survival rates and malformation profiles of trisomy 18 cases.
- To investigate trends in diagnosis, particularly the impact of prenatal diagnosis.
Main Methods:
- Retrospective analysis of 352 karyotyped trisomy 18 cases from 1964-2003.
- Data collection on survival and malformations through physician and family contact.
- Review of autopsy reports for malformation details.
Main Results:
- Increased cytogenetic diagnoses over time, with prenatal diagnoses rising significantly after 1984.
- Low survival rates: median survival of 4 days, 6% survival at 1 year, 1% at 10 years.
- High incidence of multiple malformations (97%), including VSD (67%), horseshoe kidneys (32%), and esophageal atresia (21%).
Conclusions:
- Prenatal diagnosis has increased trisomy 18 detection rates.
- Trisomy 18 is associated with severe malformations and extremely poor prognosis.
- Further analysis is needed on factors influencing survival, such as gestational length and specific malformations.