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G651 The history of edwards syndome and improvement in survival

Aims To explore John Edwards’ life including how he first described Edwards syndrome and how survival rates have changed since then and factors which affect this. Methods Literature review Results John Edwards was the son of a Surgeon and became Professor of Genetics at Birmingham and Oxford Universities. He contributed to many aspects of genetic research including a case series of 20 babies with Cornelia de Lange syndrome and the suggestion that placental sampling could be used as a screening tool. He enjoyed reading and his absent-mindedness was well known endearing him to his colleagues. In 1960 he described Edwards Syndrome, trisomy 18. Features include low birth weight, microcephaly, low-set ears, micrognathia, tightly clenched fists, rocker bottom feet, renal malformations, structural heart defects and oesophygeal atresia. This was the second trisomy to be described with Trisomy 21 described the year before. John Edwards recognised it as a trisomy and used post mortem tissue to confirm this. In 1979 he was elected Fellow of the Royal Society for ‘contributions to human cytogenetics and genetic epidemiology including elucidation of the threshold model for multifactorial traits and pedigree linkage analysis.’ In 1960 and for many years to follow, Edwards’ Syndrome was felt to be a lethal condition. Median survival has increased over the years from 13 days in the early 1990’s to 36 months in the last ten years. Median survival was reported to be as high as 16.5 years in a select subgroup with cardiac abnormalities amenable to intervention. Improvements in intensive care and cardiac intervention in addition to changing opinion are factors which could be considered to improve outcomes. Slowly, medical opinion is changing regarding the prognosis for Trisomy 18. The oldest known person with trisomy 18 is 35 years old. Conclusion John Edwards identified Trisomy 18 in the 1960’s. He has contributed significantly to clinical genetics and was also well regarded as a colleague. The clinical picture of Trisomy 18 has changed significantly since then with improved survival rates and there is current debate about ether it should still be regarded as a lethal condition.