Abnormal Newborn Screening Results: Etiologies and OutcomesSullivan, KathleenSullivan, Kathleen
There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in Europe to incorporate mass spectrometry (July 2000). This programme currently screens fo...
The purpose of this qualitative analysis was to assess parental acceptability of large-scale, telephone follow-up regarding their infants’ newborn screening (NBS) results, indicating carrier status for sickle cell hemoglobinopathy (SCH) and cystic fibrosis (CF). Methods: Analysis of 195 interview tr...
A Caucasian male born in Florida at term to a 24-year-old mother after an uncomplicated pregnancy with a birth weight of 3.3 kg was referred to a local metabolic clinic at 5 days of age due to an abnormal NBS result with a low citrulline level (3.37 μmol/L at age 24 h, reference...
A still informative score constitutes an abnormal result that before the recognition of the new marker described here would have triggered a referral to initiate follow up. Results During the postanalytical validation of an expanded newborn screening panel (Recommended Uniform Screening Panel plus other...
Parents being informed by a CF specialist (28.6%) about the positive screening result were more satisfied with the given information (80.0 versus 50% informed by the maternity ward), and the delay until the final diagnostic testing was shorter. More than 3days between the information about the...
In newborns with vitamin B12 deficiency at birth, physical and mental development is severely jeopardized without vitamin B12 supplementation. Screening is therefore beneficial in terms of early treatment, especially as affected babies are usually asymptomatic at the time of an abnormal screening result....
If a child does not react as expected at the first screening, a repeat screening is planned, and this is repeated once more if necessary. A third-stage result positive for hearing impairment is followed by referral to an audiology center for diagnostic investigation and confirmation of hearing ...
Similarly, not recognized in the first stage of screening might be children with auditory neuropathy. In this disease the child passes OAE tests but has abnormal AABR. In countries where universal screening is based on OAE tests only and if there are not any risk factors, children are not ...
Newborn screening programs are an integral part of public health systems aiming to save lives and improve the quality of life for infants with treatable disorders. Technological advancements have driven the expansion of newborn screening programs in the