Genetic Counseling and Congenital Anomalies
Murray Feingold MD1
1 Center for Genetic Counseling and Birth Defect Evaluation, New England Medical Center Hospital, Boston
As the role of the pediatrician changes, less time will be devoted to routine care and more time will be spent in other areas such as genetics and birth defects. Approximately 5% of all newborn babies have a significant birth defect requiring the care of a pediatrician. Structural abnormalities such as meningomyelocele, cleft palate, limb abnormalities, and other obvious defects usually do not present any diagnostic problems. However, there may be difficulty in diagnosis of the child who has nonspecific findings such as an unusual facial appearance and/or minor congenital anomalies. In this situation, the pediatnician must first decide whether the child is normal or abnormal; at times this may be difficult. If abnormal, then the correct diagnosis must be ascertained in order to provide the family with genetic counseling, a prognosis, and treatment when available.
Complicated medical gadgetry may be helpful in making a diagnosis, but a thorough history and physical examination remain the clinician's key to unlocking a diagnostic dilemma. A family pedigree should be constructed listing any significant illnesses, birth defects, chromosomal abnormalities, consanguinity, and mental retardation. A complete pregnancy history should always be obtained; what took place during the mother's pregnancy also affected the boarding fetus. Queries should be made concerning exposure to drugs, alcohol, infections, environmental contaminants, and radiation.
