Frequently Asked Questions
The Connecticut Newborn Screening Program
History and Description
“Newborn screening is recognized internationally as an essential, preventive public health program for early identification of disorders in newborns that can [affect] their long term health. Early detection, diagnosis, and treatment of certain genetic, metabolic, or infectious congenital disorders can lead to significant reductions of death, disease, and associated disabilities.”
The Connecticut Newborn Screening (CT NBS) Program works to ensure that every newborn, who is born or resides in Connecticut, has a valid newborn screening on record and that those infants with abnormal screening results are promptly reported to a specialty treatment center for further evaluation and treatment when needed. These comprehensive efforts help prevent unnecessary disability and premature death.
In 1964, the CT Newborn Screening (NBS) Program began statewide bloodspot screening for Phenylketonuria (PKU). Between 1976 and 1993, many disorders were added CT’s NBS panel, including Congenital Hypothyroidism (CH), Congenital Adrenal (CAH), Maple Syrup Urine Disease (MSUD), Homocystinuria (HCY), Biotinidase Deficiency (BIO), and Hemoglobinopathies, such as Sickle Cell disease (SCD), to name a few. In May 2004, the CT NBS program implemented testing using Tandem Mass Spectrometry (TMS) instrumentation. This technology allowed the lab to detect over 60 conditions and disorders from a few bloodspots including Amino Acid (AA), Fatty Acid Oxidation (FAO), and Organic Acid (OA) disorders. Screening for Severe Combined Immune Deficiency (SCID) was added in 2011 and screening for Adrenoleukodystrophy (X-ALD) in 2016. The 3 disorders most recently added CT’s panel include Spinal Muscular Atrophy (SMA) in 2020 and Pompe and Mucopolysaccharidosis type 1 (MPS-1) in 2021.
Testing, Follow-Up/Tracking and Treatment
CT NBS Program follow-up/tracking staff work with CT birth hospitals, birthing centers and midwife groups to monitor births through the NBS database and ensure that the State Public Health Laboratory (SPHL) has a satisfactory NBS bloodspot specimen for every newborn born in the state. Program staff also work to identify babies living in CT who are not in the NBS database (i.e., babies born out of state, adopted babies and babies born outside of the hospital) to ensure that every baby has access to screening.
All NBS specimens undergo extensive testing at the SPHL. For more information on which disorders CT can detect, please go to CT Newborn Screening Panel
Program staff also follow-up on bloodspot specimens that are unsatisfactory or invalid for testing and all out-of-range results. Following an out-of-range result, staff either request a heel-stick specimen for repeat NBS analysis or report the result to the Connecticut Newborn Diagnosis and Treatment Network (the Network). Network staff work with the hospital of birth, Primary Care Provider or Midwife to provide comprehensive care that includes consultation, diagnostic testing, education, counseling and treatment, when indicated, at a location close to home. The Network will connect the family with a specialist in Genetics, Endocrinology, Hematology, Neurology or Immunology as needed.
The Connecticut newborn screening panel is based on recommendations set forth by the US Department of Health and Human Services (US DHHS) and includes testing for metabolic and genetic disorders such as amino acid, fatty acid oxidation and organic acid disorders, in addition, endocrine, immunodeficiency, neuromuscular, hemoglobin and peroxisomal disorders.
Short-term follow-up by the NBS program continues until the child receives a confirmed diagnosis or a disorder is ruled out. The Network is responsible for care management and long-term follow-up of children diagnosed with a disorder identified through NBS. For more information on the Network and how the Network supports parents and providers, please see Connecticut Newborn Diagnosis and Treatment Network.
In addition to the work previously described, CT NBS Program staff also collect and analyze short-term follow-up data that is used for quality assurance activities, epidemiological surveillance and advancing the science of NBS. Processes for the collection and analysis of long-term follow-up data are in development.
 (CDC, 2011. Ten Great Public Health Achievements--United States, 2001—2010. Morbidity and Mortality Weekly Report. May 20, 2011 / 60(19); 619-62. Accessed at https://www.cdc.gov/mmwr/preview/mmwrhtml/mm6019a5.htm