Diagnosis of Cystic Fibrosis Often Missed or Delayed, Especially in Non-White Infants

Ann & Robert H. Lurie Children’s Hospital of Chicago is leading an awareness campaign that aims to reduce missed or delayed diagnosis of cystic fibrosis after newborn screening, especially in non-White infants. In its first phase, the campaign targets primary care providers and public health officials, so that treatment can start earlier, which is linked to better outcomes for people with cystic fibrosis. The general public phase is expected to follow within the year.

A Novel Test Could Make Sure Newborns With a Serious Genetic Disease Get Essential Treatment

Scientists have developed a test that could greatly improve quality of life for infants with homocystinuria (HCU)—a congenital disease that, if not treated early, causes serious complications. Research demonstrating the efficacy of this test was published today in AACC’s Clinical Chemistry journal.

Study Finds Delays in Initial Cystic Fibrosis Evaluation in Infants of Color

Infants from minoritized racial and ethnic backgrounds who have positive newborn screening tests for cystic fibrosis received their diagnostic follow-up for the disease later than recommended and later than white, non-Hispanic infants, according to a study published in the Journal of Cystic Fibrosis. The study also found that this delay in diagnosis and treatment was associated with worse early nutritional outcomes and may contribute to previously documented, considerable health disparities in people with cystic fibrosis.