Field Studies of Selected Congenital Malformations Occurring in Pennsylvania

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Abstract
Expanded efforts must be made to determine the etiologies of congenital deformities. Six pilot studies are reported. The first, a geographic study of anencephaly, cleft lip and palate, ectromelia, mongolism, spina bifida, and tracheo-esophageal fistula, by place of residence as reported by birth certificate for a 3-month period in Philadelphia, revealed that all but one of the defective infants came from 5 of the City''s 10 health districts. A 2nd study of the completeness of birth-certificate reporting of congenital malformations from 2 Pennsylvania hospitals demonstrated general underreporting, with inconsistencies between the 2 hospitals, and in the completeness with which specific anomalies were registered. A 3rd study involved a single defect, tracheo-esophageal fistula, as it occurred in Pennsylvania from 1951-1958. Clinical investigation of each case was made. A 4th study was carried out by use of a research questionnaire by public health nurses on 155 cleft-lip cleft-palate cases. Differing epidemiologic attributes were found for children with cleft lip alone and children with cleft palate alone. A 5th study showed marked differences in seasonal distribution of anencephaly and spina bifida as reported by birth certificate over an 8 yr. period in Pennsylvania. A 6th study attempted to explore the racial distribution of selected congenital malformations occurring in Pennsylvania. The challenge to clinical investigators of the human scene is the detailed study of specific malformations to determine their specific mechanisms of production. This will require identification of multiple genetic and environmental factors having teratogenic influence, and the field studies reported here were designed with these objectives in mind. One principle to come out of these several pilot studies is the importance of specificity. All anomalies cannot be treated as a single universe, and even those anatomically close behave differently epidemiologically. Beginning efforts can be made by restricting effort at first to those anomalies which can be identified at birth, by directing attention to the accuracy and completeness of reporting, by prompt field investigation of reported cases, and by combining service programs with investigative efforts aimed at evaluating the respective roles of environmental and genetic factors leading to their occurrence.

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