Cell-free DNA (cfDNA) testing for fetal trisomy is highly effective among high-risk women. However, there have been few direct, well-powered studies comparing cfDNA testing with standard screening ...

Newborn screening is an essential tool to diagnose many diseases in the babies which otherwise are extremely difficult to be picked up at the right time but when picked at correct time they can be ...

Given the extent of disagreement among observers regarding the color of infants observed under identical conditions (i.e., via video recording), the study authors concluded that real-world visual ...

Evidence-based guidelines have been developed for newborn screening, diagnosis, and early management of SMA in Australia and ...