From the Guidelines
In Florida, newborn blood screening includes tests for over 50 disorders, prioritizing early detection and treatment to prevent serious health complications, developmental delays, or even death, as recommended by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) 1. The Florida Newborn Screening Program tests for various disorders, including:
- Metabolic disorders like phenylketonuria (PKU), maple syrup urine disease, and galactosemia
- Endocrine disorders such as congenital hypothyroidism and congenital adrenal hyperplasia
- Hemoglobinopathies including sickle cell disease and other hemoglobin variants
- Cystic fibrosis
- Severe combined immunodeficiency (SCID)
- Critical congenital heart defects
- Amino acid disorders, fatty acid oxidation disorders, organic acid disorders, and lysosomal storage disorders, as detected by tandem mass spectrometry 1 These tests are performed using a few drops of blood collected from the baby's heel within 24-48 hours after birth. The use of tandem mass spectrometry in newborn screening has substantially increased the number of metabolic disorders that can be detected from dried blood spot specimens 1. Early detection through these screenings allows for prompt intervention and treatment, potentially preventing serious health complications, developmental delays, or even death. Parents should ensure their newborn receives this screening and follow up with their pediatrician regarding the results, which are typically available within 7-14 days after testing. It is essential to note that while mass spectrometry can detect various disorders, it cannot replace current programs to screen for biotinidase deficiency, hypothyroid-hemoglobinopathies, virilizing adrenal hyperplasia, and galactosemia, which must be detected by other means 1.
From the Research
Newborn Blood Test in Florida
The specific tests included in the newborn blood test in Florida are not directly mentioned in the provided studies. However, the studies do provide information on the common disorders screened for in newborns:
- Phenylketonuria 2, 3, 4, 5, 6
- Congenital hypothyroidism 2, 3, 4, 5, 6
- Cystic fibrosis 3, 4, 5, 6
- Galactosemia 3, 4, 5
- Medium-chain acyl-CoA dehydrogenase deficiency 3, 4, 5
- Glutaryl-CoA dehydrogenase deficiency 3
- Congenital adrenal hyperplasia 3, 4, 5, 6
- Biotinidase deficiency 4, 5
- Congenital hearing loss 4, 5
- Homocystinuria 4, 5, 6
- Maple syrup urine disease 4, 5, 6
- Sickle cell disease and other hemoglobinopathies 4, 5, 6
- Tyrosinemia 4, 5, 6
- Isovaleric and glutaric type I acidurias 6
- Disorders of fatty acid metabolism (MCADD, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and primary carnitine deficiency) 6
Disorders Screened in Newborns
The studies also mention that the newborn screening system consists of several parts, including newborn testing, follow-up of abnormal screening results, diagnostic testing, disease management, and continuous evaluation and improvement of the newborn screening system 4, 5. Additionally, the studies discuss the importance of informed consent, tandem mass spectrometry, and DNA analysis in newborn screening 3, 4, 5.