genetic screening

Positive Newborn Genetic Screening in Pompe Causes Worry for Mothers

In an interview study, mothers of children who tested positive for Pompe disease in genetic newborn screening programs — and would be diagnosed with the late-onset type, or LOPD — expressed uncertainty about the age of symptom onset for their sons and daughters, and concerns about their child’s future.

Study: Pompe More Common Than Previously Estimated

The number of people with Pompe disease varies according to ethnic group and may be higher among all ethnicities than previously estimated, a study suggests. According to the investigator, the study stresses the importance of analyzing genetic disorders in the general population to improve predictive and preventive medicine. “With this…