A child born with a serious birth defect can face challenges throughout life, and a 黄瓜视频 researcher wants to employ better methods to track trends and identify health issues before they become life threatening.
, Distinguished University Professor in the in USF鈥檚 (COPH), is exploring opportunities to bring together multiple sources of information into a single surveillance platform. He outlined his plan in a new paper, 鈥�,鈥� published in Clinical Chemistry, a journal of the Association for Diagnostics & Laboratory Medicine.
鈥淭he goal of birth defects surveillance is to identify all cases of major birth defects occurring among newborns in the population,鈥欌�� Kirby said. 鈥淩egistries provide the basis for tracking trends in the prevalence of specific birth defects over time, which can aid in clinical and public policy decision-making.鈥欌��
Because newborn screening programs are based on population and have separate infrastructures, these conditions are not typically included in birth defects registries. Many conditions screened result from birth defects; for example, congenital hearing loss is often the result of structural abnormalities of the ear. Linking the data from the two complementary public health programs has the potential to strengthen the data and reach of both programs.
About 1 in 33 babies in the U.S. are born with a major birth defect, making them the leading cause of infant deaths 鈭� responsible for 20% of all infant fatalities, according to the Centers for Disease Control and Prevention (CDC). Birth defects are structural changes that are present at birth that affect a baby's appearance, function or both. They can range from mild to severe and arise from a mix of genetic, behavioral and environmental factors, and include heart defects, Down syndrome, cleft lip and palate, and spina bifida, among others.
Birth defects registries seek to identify health issues in the first year of a child鈥檚 life, while other public health programs collect data on special needs, developmental disabilities and early intervention services. Because newborn screening programs are population-based, despite that many of the conditions screened for are also birth defects, these conditions are not typically included in birth defects registries.
Registries focus on major structural defects, with most conditions being visible or diagnosed at or before birth. Most programs do their surveillance through the first year of life, but some birth defects may come to clinical attention later in early childhood.
Without population-based registries, typically linked to vital records including death and fetal death certificates, health officials are challenged to monitor survival and mortality for specific conditions. Both clinicians and public health programs now also focus on the growth and development of infants with specific birth defects, and how they do in early childhood and in school.
Using laboratory data from newborn screening and genetic testing can improve birth defects surveillance and other public health programs. Ultimately, improved surveillance can have long-term benefits, especially for infants born with metabolic disorders.
鈥淏irth defects can manifest in a range of severity and complexity, including the presence of anomalies in other body systems,鈥欌�� Kirby said. 鈥淟ikewise, metabolic disorders can affect newborns differently. Knowing more about the range of phenotypic expression (a person鈥檚 DNA blueprint) can assist clinicians in providing the best treatment for these conditions.鈥欌��