From the Guidelines
Newborn screening lab tests typically include conditions such as phenylketonuria (PKU), congenital hypothyroidism, galactosemia, sickle cell disease, cystic fibrosis, maple syrup urine disease, and various fatty acid oxidation disorders. These tests also screen for congenital adrenal hyperplasia, biotinidase deficiency, and severe combined immunodeficiency (SCID) 1. The specific conditions screened vary by state or country, with most programs covering at least 30 different disorders, as identified by the expert panel in the study published in Genetics in Medicine in 2006 1. The screening is performed using a few drops of blood collected from the newborn's heel, typically 24-48 hours after birth. Early detection of these conditions is crucial as many are not clinically apparent at birth but can cause serious health problems, developmental delays, or death if left untreated 1. Most of these disorders can be effectively managed with early intervention through dietary restrictions, hormone replacement, or other treatments. Parents should ensure their newborn receives this screening and follow up promptly if any abnormal results are detected, as timely treatment can prevent or minimize complications. The expert panel identified 29 conditions for which screening should be mandated, and an additional 25 conditions were identified because they are part of the differential diagnosis of a condition in the core panel, they are clinically significant and revealed with screening technology but lack an efficacious treatment, or they represent incidental findings for which there is potential clinical significance 1. The NYMAC Newborn Screening Diagnostic Guidelines address the laboratory testing that is required for patients referred to a specialty care center to reach diagnostic confirmation, which is important to determine the incidence of the disease in the US population, track the clinical course of and best treatment for these conditions, and allow the newborn screening laboratories to set appropriate cut-off levels that minimize both false positives and false negatives 1.
Some key points to consider:
- The conditions included in newborn screening vary by state or country, but most programs cover at least 30 different disorders.
- Early detection and treatment of these conditions can prevent or minimize complications, and improve outcomes for affected individuals.
- The NYMAC Newborn Screening Diagnostic Guidelines provide a framework for diagnostic evaluation and confirmation of newborn screening results.
- Correct diagnosis is crucial to determine the incidence of the disease, track the clinical course, and set appropriate cut-off levels for newborn screening.
Overall, newborn screening is an essential public health program that aims to ensure the best outcome for the nation's newborn population, and parents should ensure their newborn receives this screening and follow up promptly if any abnormal results are detected.
From the Research
Newborn Screening Lab Tests
The conditions included in newborn screening lab tests are:
- Inborn errors of metabolism
- Endocrine disorders
- Hematologic diseases
- Immunologic diseases
- Cardiovascular diseases
- Hearing loss
- Congenital hypothyroidism
- Certain genetic disorders
Conditions Detected through Newborn Screening
Newborn screening can detect a range of conditions, including those that do not present with clinical symptoms at birth but can cause significant mortality and morbidity if not detected or treated quickly 2. The Recommended Uniform Screening Panel (RUSP) includes a range of diseases that are detected through dried blood spot (DBS) specimens 2.
Expansion of Newborn Screening
The expansion of newborn screening is expected to continue with advancements in technology, allowing for the inclusion of more conditions in the screening panels 3. A scientific, evidence-based process is used to add conditions to newborn screening panels, with the goal of reducing morbidity and mortality 4.
Importance of Newborn Screening
Newborn screening is a crucial public health intervention that provides early detection and intervention for infants with congenital diseases 2, 5. It is estimated that over 98% of newborns in the United States are screened each year, highlighting the importance of this program 5.