Program purpose
The Connecticut Newborn Screening Program ensures every baby born or living in Connecticut has a newborn screening on record. If a screen is abnormal, the program may request a repeat newborn screen or refer the infant to a specialty treatment center for evaluation and care to help prevent disability and premature death.
History
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 Hyperplasia (CAH)
- Maple Syrup Urine Disease (MSUD)
- Homocystinuria (HCY)
- Biotinidase Deficiency (BIO)
- Hemoglobinopathies, such as Sickle Cell disease (SCD)
In May 2004, Connecticut began using tandem mass spectrometry, a lab tool that can find over 60 conditions from just a few drops of blood, including amino acid, fatty acid oxidation, and organic acid disorders. Screening for Severe Combined Immune Deficiency (SCID) was added in 2011 and for adrenoleukodystrophy (X-ALD) in 2016.
In 2011, the Centers for Disease Control and Prevention (CDC) proclaimed Newborn Screening as one of the 10 Greatest Public Health Achievements in the Past Decade.
Testing, follow-up, tracking and treatment
CT NBS follow-up and tracking
CT NBS staff work with hospitals, birthing centers, and midwives to make sure every newborn in Connecticut has a NBS collected and tested at the State Public Health Laboratory.
For samples that have out-of-range results
If a sample is unsatisfactory or is out of range, staff request a repeat heel-stick or refer the case to the Connecticut Newborn Screening Network (the Network). The Network coordinates care with the hospital, primary care provider, or midwife, arranges tests and counseling, and connects families with specialists as needed. Short-term follow-up continues until a diagnosis is confirmed or ruled out, and the Network manages long-term care for diagnosed children.
Financial support for CT NBS
This website is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) as part of an award totaling $150,000 with 0% financed with non-governmental sources. The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement, by HRSA, HHS, or the U.S. Government. For more information, please visit HRSA.gov.