The Active Malformations Surveillance Program, Boston in 1972–2012: Methodology and demographic characteristics

Abstract

The surveillance of a large consecutive population of newborn infants, stillbirths, and aborted fetuses can identify with high reliability all infants with one or more malformations. This process of ascertainment of affected newborns can be used to improve genetic counseling, identify "new" phenotypes, and serve as a system for testing new technologies to establish more causes of congenital malformations.

Polydactyly, postaxial, type B

“…These codes were assigned by the research staff, supervised by the staff geneticists. The methodology of this Surveillance Program and the demographic characteristics of the population surveyed over those 41 years (1972–2012) are presented in a separate article in this series (Holmes, Nasri, Westgate, Toufaily, & Lin, ).…”

Hypospadias, Intrauterine Growth Restriction, and Abnormalities of the Placenta

“…The definition of a malformation used was a structural abnormality with surgical, medical, or cosmetic importance. The details of the methodology used and the demographic characteristics of the population surveyed are provided in a separate article in this series of articles in this Special Issue (Holmes et al, ).…”

Iniencephaly

“…The clinical course and demographic characteristics and family history of each infant were established in postpartum interviews, whenever possible, and from the review of each mother's medical record and the autopsy reports. The details of the methodology and the demographic characteristics of the population surveyed are provided in Holmes et al, , another article in this series of articles in this issue of the journal.…”