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The Connecticut Newborn Screening Program

History and Description

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[1].

“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.[2]”

Purpose

The Connecticut Newborn Screening (CT NBS) Program works to assure 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 referred to a specialty treatment center for further evaluation and treatment when needed.  These comprehensive efforts help prevent unnecessary disability and premature death.

History

In 1964, the CT Newborn Screening (NBS) Program began statewide blood-spot 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 Tandem Mass Spectrometry (TMS) instrumentation. This technology allowed the lab to screen for 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 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 blood-spot 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 screens for 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. 

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 CT NB Diagnosis and Treatment Network page).

In addition to the work previously described, CT NBS Program staff also collect and analyze short 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. 

Definitions:

Epidemiological surveillance is the systematic collection, analysis and dissemination of health data for the planning, implementation and evaluation of public health program.

Quality Assurance is the maintenance of a desired level of quality in a service or product by means of attention to every stage of the process of delivery of that service or product.

Laws and Regulations

State Regulations (Sec.19a-55-1-19a-55-3) require those overseeing the medical care of newborns to collect a blood-spot specimen, from each newborn infant in their care, for genetic and metabolic testing in accordance with Sec. 19a-55 of the Connecticut General Statutes.  This specimen must be collected before the fourth day of life (96 hours of age), prior to discharge from the birthing center/birth hospital or as soon as medically appropriate after birth.  This blood-spot specimen must be shipped to the State Laboratory or designated facility within 48 hours of collection.  Please refer to the CT Newborn Screening (NBS) Specimen Collection Guidelines for specific recommendations on the timing of and procedure for NBS specimen collection.   Birthing facilities, NICU care providers, midwives and primary care providers have a responsibility to know the NBS status of each infant in their care, and to assure that each infant has a valid newborn screen on record.  This includes infants who may not have been born in the state but reside and/or receive medical care in the state.

Connecticut State Statutes also mandate newborn screening for Cystic Fibrosis (CF), hearing deficits, serious heart defects (Critical Coronary Heart Defects—CCHD) and Human Immunodeficiency Virus (HIV).  Cystic Fibrosis (CF) screening is conducted by the CF programs of Yale New Haven Hospital (YNHH) and the UCONN Health Center (UCHC). Screenings for hearing, CCHD and Human Immunodeficiency Virus (HIV) are usually conducted by the hospital of birth within the first few days of life. 

Testing, Short-Term Follow-Up/Tracking and Treatment

The CT Newborn Screening (NBS) program employs Nurse Consultants who 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. The nurse consultants 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.

The nurse consultants 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 at one of three regional treatment centers. 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.

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.