Florida Newborn Screening

Most babies arrive into the world healthy, but some have a rare health problem that is not outwardly visible.  Florida screens all babies for over 36 different conditions, unless a parent objects in writing.  Before leaving the hospital, a few drops of blood are taken from the heel of the baby and the ears are also tested for hearing.  The hospital sends the blood sample to the Bureau of Public Health Laboratories in Jacksonville which screens over 1,000 blood samples per day.  All results are sent back to the hospital and then forwarded to the baby’s doctor.  Doctors can also get results for their patients from the Florida Newborn Screening Results website.   If the screening results are abnormal, the Newborn Screening Follow-up Program which is a part of Children’s Medical Services will contact the parent and\or doctor about additional testing and continue follow-up until the disorder is either ruled out or confirmed.  The screening process helps find and treat conditions early which can prevent serious problems like intellectual disabilities or death.

The Department of Health currently screens all babies born in Florida for the following disorders.

Disorders

  • PKU (Phenylketonuria)
  • CAH (Congenital adrenal hyperplasia)
  • Congenital hypothyroidism
  • Galactosemia (G/G)
  • Hb S/Beta-thalassemia
  • HB S/C disease
  • Sickle cell anemia
  • Hearing loss
  • 3MCC (3-Methylcrotonyl-CoA carboxylase deficiency)
  • 3-OH 3-CH3 glutaric aciduria
  • Arginosuccinic acidemia
  • Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency
  • Biotinidase deficiency
  • Citrullinemia
  • Glutaric acidemia type I
  • Homocystinuria
  • Isovaleric acidemia
  • LCHAD (Long-chain L-3-OH acyl-CoA dehydrogenase deficiency)
  • Maple syrup urine disease
  • MCAD (Medium chain acyl-CoA dehydrogenase deficiency)
  • Methylmalonic acidemia
  • Propionic acidemia
  • Tyrosinemia type I
  • VLCAD (Very long-chain acyl-CoA dehydrogenase deficiency)
  • Carnitine/Acylcarnitine translocase deficiency
  • Carnitine palmityl transferase deficiency type I
  • Carnitine palmityl transferase deficiency type II
  • Multiple acyl-CoA dehydrogenase deficiency
  • SCAD (Short chain acyl-CoA dehydrogenase deficiency)
  • Tyrosinemia type II
  • Carnitine uptake defect
  • Methylmalonic acidemia (mutase deficiency)
  • Multiple carboxylase deficiency
  • Trifunctional protein deficiency
  • Cystic Fibrosis
  • Severe Combined Immunodeficiency (SCID)

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