One way to learn about congenital malformations is to examine a consecutive series of affected liveborn infants. With the help of a perinatal pathologist, the experience can be extended to stillborn infants and the fi ndings at autopsy. Our evaluation of the malformed infants among 18,155 births over three years (February 16, 1972, to February 15, 1975) at the Boston Lying-In Hospital was that fi rst learning experience. One recurrent theme was the amazing variation in both the patterns of physical features and the apparent causes in infants with common malformations. During this three-year period, with the energetic and creative assistance of Catherine Cook and Cristina Cann, we examined, also, a systematic sample of 7,157 newborn infants for minor physical features ( 1 ). In addition, with the guidance of Joseph Alper, a pediatric dermatologist, we examined 4,641 of those infants for all types of birth marks. These examinations showed us the value of knowing about the range of normal for minor physical features and how to identify the common birth marks.
This project ended after three years. We were invited back in 1978 and resumed the Active Malformations Surveillance Program on January 1, 1979.
By the 1980s, the identifi cation of malformations was being impacted signifi cantly by the use of prenatal screening by ultrasound. We and others began to document the frequency of prenatal detection and the impact of the elective termination of the pregnancies with a malformed fetus ( 3–6 ).
Since the 1990s, there have been many publications on the prevalence rate and etiologic heterogeneity of common malformations by many research groups around the world. Within the past ten years, it has become possible to delineate “causative” developmental abnormalities, such as mutations, polymorphisms, and subtle deletions and duplications, which can cause common malformations. This has continued at a faster pace as the molecular technologies have improved.