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A genetic and statistical study of the respiratory distress syndrome
Insights
This study suggests a genetic maternal factor contributes to respiratory distress syndrome (RDS) risk. Recurrence risks were higher in siblings and maternal relatives, especially for low birth weight or preterm infants.
Area of Science:
- Pediatrics
- Medical Genetics
- Neonatology
Background:
- Respiratory Distress Syndrome (RDS) is a significant cause of neonatal morbidity and mortality.
- Understanding the etiology of RDS is crucial for developing effective prevention and treatment strategies.
Purpose of the Study:
- To investigate the familial recurrence risk and potential genetic factors contributing to Respiratory Distress Syndrome (RDS).
- To explore associations between RDS and various perinatal factors.
Main Methods:
- Review of hospital records for 197 infants diagnosed with RDS.
- Family history interviews with 111 families to assess recurrence in siblings and relatives.
- Analysis of birth weight, gestational age, parental age, birth order, mode of delivery, and twin concordance.
Main Results:
- Empiric recurrence risk for RDS in full sibs ranged from 12-19%, increasing to 32-50% for low birth weight/preterm infants.
- Maternal half-sib risk was similar to full sibs, while paternal half-sib risk was minimal, suggesting a maternal factor.
- Significant findings included male excess in probands, decreased birth weight and gestation in sibs, lower parental ages, increased stillbirths, cesarean sections, and 75% twin concordance.
Conclusions:
- Data strongly suggest a genetically determined maternal factor predisposing certain infants to RDS.
- Associated factors like reduced birth weight, shorter gestation, and increased stillbirths warrant further investigation in the context of RDS etiology.
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 biasis 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, less than or equal to 2.5 kg) and/or preterm (less than or equal to 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 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%.