The Connecticut Newborn Screening Program


Testing, Follow-Up/Tracking and Treatment

The CT Newborn Screening (NBS) Program follow-up/tracking staff work with CT birth hospitals, birthing centers and midwife groups to monitor births through the NBS database (also known as Maven or CT-Site) and assure that the State Public Health Laboratory (SPHL) has received a satisfactory NBS blood-spot specimen for every newborn. CT NBS Program Staff also work to identify babies residing 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—such as home births and other out-of-hospital births that are not attended by a licensed medical/midwife provider).  These nurses also follow up on specimens received that are unsatisfactory or invalid for testing.  All NBS specimens undergo extensive testing for over 60 conditions at the SPHL.  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 disorders such as amino acid, fatty acid oxidation and organic acid disorders, in addition to, endocrine, immunodeficiency, hemoglobin and peroxisomal disorders.

CT NBS Program Staff follow up on all abnormal NBS results and either request a specimen for repeat NBS analysis or refer the child to a specialist in genetics, endocrinology, hematology or immunology through the Connecticut Newborn Diagnosis and Treatment Network (the Network). The treatment center specialists work with the hospital of birth, Primary Care Provider, Midwife or Neonatal Intensive Care Unit (NICU) to provide comprehensive care that includes consultation, diagnostic testing, education, counselling and treatment when indicated.  Short-term follow-up by the NBS program continues until the child receives a confirmed diagnosis or a condition is ruled out.  The CT Newborn Screening (NBS) Program has partnered with Connecticut Children’s Medical Center to form the Connecticut Newborn Diagnosis and Treatment Network (the Network) and is working to develop systems for long-term follow-up of children who confirm positive for disorders detected through newborn screening.

In addition to the work previously described, CT NBS Program staff also collect and analyze data that are used for quality assurance activities, surveillance and advancing the science of NBS.


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