Congenital malformations.

Abstract

PERSPECTIVES IN BIOLOGY AND MEDICINE Volume IX · Number 3 · Spring 1966 EDITORIAL: CONGENITAL MALFORMATIONS Defects of birth have been recorded in the most ancient documents. They were always associated with superstition and magic. Early man was without any understanding ofthe reason for such defects. For years the impression prevailed that incidents affecting the mother might be responsible , asindeedothermaternalimpressions might make ofaforthcoming child a great musician, a mathematician, or aleaderin someprofession. Evidence ofsuch causation has never been made available but coincidences that occurred sustained the belief. Without any knowledge of biology, many primitive societies related the birth of defective children to intercourse between animals and man. Ifnothing else, the growth ofscientific knowlege has resulted largely in the abolition offeelings ofguilt and the related emotional disturbances associated with the birth of a defective child. Innumerable problems in this field still await solution. Why do malformations ofthe brain occur more often in white than in black people? Why does spina bifida occur at least twice as often in whites as in Negroes and twelve times as often in whites as in theJapanese? Why are hare lip and cleft palate much more frequent amongJapanese than in other races? Why do Negroes have extra fingers on the hand at least seven times as often aswhitepeople? Why are congenital dislocations ofthe hip far more frequent in southern European than in northern European countries? No doubt the answers to many ofthese questions will be found when much more work is done on the defective genes and the chromosomes. The knowledgethat rubella or German measles ofthe mother during the first three months ofpregnancy could cause defects in the fetus, particularly ofthe eye, the ear, and the heart, and the innumerable cases ofphocomelia following the use ofthalidomide focused the attention of scientists on the effects ofviral infections on the fetus and on the effects ofdrugs in producing damage to the genes. When mongolism came to be associated with a chromosome, the reasons for therapeutic failure became obvious. However, physical causes such as overcrowding ofmultiple births in the 315 Uterus and immunological changes such as Rh incompatibility ofthe blood of the mother and the child have also been indicted as responsible for defects. The listing here set forth is but a hint ofthe innumerable possible causes of failures in the development or non-development of a child at birth. Much is known about the structure ofthe child's involvement in birth, the forces that occur as the fetus grows, the genetic influences that establish not only physical appearances but also, no doubt, mental capacity or incapacity . The changes that make one person a diabetic and the other a victim of cystic fibrosis are beginning to be understood, but methods of prevention are still to be found. From time to time various pragmatists and philosophers have suggested that the defective be destroyed or even be permitted to die when discoveredat birth. Othershave insisted that studies which will detect damage to thefetus must bemade andthese might be followedby efforts to prevent birth ofsuch damaged infants. These views have become more persistent since recognition that defective children who would formerly have died in early youth now grow to well advanced ages. However, inborn errors ofmetabolism such as phenylketonuria and galactosemia, which are only two ofpossibly 500 or more such errors, have reached the phase ofearly detection. Scientists now offer hope for the control ofconditions based on biochemical changes. Primarily social studies have yielded evidence that the birth ofa defective child is a significant trauma to family life. Parents are certainly profoundly affected and other children in the same family tremendously influenced . Thus the birth of a congenitally defective child assumes great significance, creating situations that demand study byphysicians, psychologists , social workers, lawyers, theologians and indeed, all the professions. No doubt this situation was recognized by the leaders of the National Foundation when they decided to devote their efforts to the support ofthe study ofcongenital malformations and birth defects, following their great triumph over poliomyelitis. The new problems they have undertaken to solve are far more important—not only because ofthe damage created by congenital malformations and birth defects, but because of their effects upon all mankind. If they achieve success in solving only...