A genetic and statistical study of the respiratory distress syndrome

Abstract

The hospital records of 197 infants with the respiratory distress syndrome (RDS) were reviewed and the families of 111 of them subsequently contacted to obtain a family history. After correcting for bias of ascertainment, the incidence of RDS among the full sibs was found to be between 12 and 19% depending on whether the individuals diagnosed as “possible RDS” were counted as affected. Among the low birth weight (LBW, ≤2.5 kg) and/or preterm (≤37 weeks gestation) infants in the sibships, the incidence of RDS was 32–50%. Considering only sibs born after the probands yielded the empiric recurrence risk of 17–27% for all younger sibs and of 39–67% for LBW/preterm younger sibs. The risk for maternal half-sibs was of about the same magnitude as that for full sibs, while the risk for paternal half-sibs was minimal. Among the LBW/preterm first cousins of probands, only the infants of maternal aunts showed an RDS incidence clearly higher than that in the general population. We think these data suggest a genetically determined maternal factor predisposing the infants of certain mothers to RDS.

Other significant findings include: 1) an excess of males among the probands but a normal sex ratio among the sibs of the probands; 2) a decrease in mean birth weight and mean length of gestation for not only the probands but also their sibs; 3) a decrease in the mean parental ages at the birth of the probands; 4) a relative dearth of first-born and an excess of second-born infants among the probands; 5) an increased incidence of stillbirths in the sibships; 6) an increased number of probands born by cesarean section; and 7) a twin concordance of 75%.