Congenital Malformations

In this country today if a child survives the first 4 weeks after birth he has a very good chance of 70 years of life, but to attain this he still has to negotiate the hazardous perinatal period. The perinatal mortality survey for England, Scotland and Wales showed that the highest single cause of first week deaths is congenital malformation, constituting nearly 25 per cent of deaths in March 1958. (Butler, 1961.) Medicine is constantly providing us with new challenges, and this one must be obvious, for in addition to some of these lives which might be saved by better diagnosis and treatment, there are many more handicapped survivors. The term "congenital malformation" implies a condition which is present at birth but which is not due to the birth process; for malformation the terms anomaly, defect or deformity may be substituted. This definition covers a wide range and as well as disorders of structure, includes those of function, e.g. the congenital enzyme defects which cause widespread damage to cell chemistry with the growth of the child: phenylketonuria, galactosaemia and several similar disorders, and the congenital defects of the red cells and haemo-globin which are responsible for the congenital haemolytic anaemias. The diagnosis of congenital malformations may be obvious at birth, or by careful examination within the first few months of infancy. Some only reveal themselves much later in life, e.g. those of the genito-urinary tract, and others only in the post-mortem room having never caused any apparent trouble. If effective treatment is to be applied, however, to all who need it, the aim should be to discover as many as possible as early as possible, The field of discovery is rich for all who seek, and it is noteworthy that with the greatly improved paediatric medical supervision of all our babies in Southmead and Bristol Maternity Hospitals how many more abnormalities, and particularly those of the heart and the nervous system are being detected at an early age. For efficiency and economy of time and effort the search must be thorough and appropriately timed. The infant should always be examined naked and lying flat on a table or some similar surface. It is impossible to make an efficient examination when he is clothed in a gown usually three times too big and lying in the bottom of a canvas sling cot, or on the midwife's or mother's lap. The doctor's …