A SCORE BASED ON EIGHT SIGNS IN THE DIAGNOSIS OF DOWN SYNDROME IN THE NEWBORN

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Abstract
Experience with a score based on 8 signs of Down syndrome is described. The signs are: abundant neck skin, mouth corners turned downward, general hypotonia, flat face, dysplastic ear, epicanthic eye-fold, gap between 1st and 2nd toes, protruding tongue. Examination was done in the 1st wk of life of the newborn to evaluate his score. About 5 min were spent to score a child. An infant with a score of 6, 7 or 8 (showing 6, 7 or 8 signs) is considered clinically proven Down syndrome. When an infant has a score of 0, 1 or 2, the diagnosis is disproved. No false positive were observed among approximately 19000 liveborn infants born in this hospital in a 5 yr period (1973-1977). All the 30 infants where the diagnosis was considered were karyotyped, 26 had regular trisomy 21, and 4 had a normal karyotype. Of the 21 initially suspected cases who were checked for the score, 20 had a score of 6-8 (all had a karyotype of trisomy 21), only 1 had a score of 0-2 (she had a normal karyotype), 8 had a score of 3-5. This last group is heterogenous as it included 5 affected infants and 3 children with a normal karyotype and is the only group where cytogenetic investigation is indicated for diagnostic purposes. This score should be used routinely for the clinical evaluation of every newborn where the possibility of a diagnosis of Down syndrome has been raised.

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