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[Trisomy 18 (Edwards syndrome): two case reports]
P Morosini1, C Verdura, F Paolillo
1Divisione di Patologia Neonatale, Ospedale Maggiore di Lodi Mi, Italia.
Insights
Edwards (trisomy 18) syndrome typically has short survival. This report details two cases, one with typical short survival and another with long survival, highlighting the impact of comprehensive support for trisomy 18 without mosaicism.
Area of Science:
- Genetics
- Pediatrics
- Medical Science
Background:
- Edwards (trisomy 18) syndrome affects approximately 1 in 8000 births.
- The condition is generally characterized by limited survival rates.
- Long-term survival is exceptionally rare and often associated with chromosomal mosaicism.
Observation:
- Two cases of Edwards syndrome with divergent outcomes are presented.
- The first case exhibited a typical, short-term survival trajectory.
- The second case demonstrated long-term survival, defying typical prognosis.
Findings:
- The long-term survival case appears to be a non-mosaic trisomy 18.
- This case underscores the potential impact of integrated support systems.
- Comprehensive biological, psychological, and social interventions were crucial for the long-term survivor.
Implications:
- This study suggests that comprehensive support can significantly alter outcomes in trisomy 18.
- It highlights the importance of individualized care plans for rare genetic conditions.
- Further research into the factors influencing long-term survival in trisomy 18 is warranted.
Abstract:
Edwards (or trisomy 18) syndrome, with a frequency of about 1 over 8000 births, is commonly characterized by a very short survival; those rare cases reported with ages of 12 months or more, always were demonstrated to be chromosomic mosaicisms. Two affected children with completely different outcomes are here described; the first with a classic short-life evolution, in opposition to the second with long survival, the last a good example of all those various biological, psychological and social support interventions in these circumstances, very rare to match with, for this appears to be a trisomy 18 without mosaicism.