Edwards reported the first description of a syndrome of multiple congenital malformations associated the presence of an extra chromosome. The extra chromosome belonged to the East group of chromosomes which consisted of chromosomes 16, 17 and 18. The condition is now known as Edwards syndrome or trisomy 18 syndrome.
In 1979, Edwards was elected to fellowship of the Royal Society.
He was a Fellow of Keble College, Oxford, and Professor of Genetics at Oxford from 1979 to 1995. He was the son of the surgeon Harold C. Early in his career, he worked under Lancelot Hogben, and was sometimes distinguished from the brother as "Hogben"s Edwards".
John Hilton Edwards (a short biography). Professor John Edwards obituary, The Independent BMJ obituary Nature Genetics obituary.