The Connecticut Newborn Screening Program

History & Description

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 Hyperplasia (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, CT’s NBS program implemented Tandem Mass Spectrometry (TMS) instrumentation. This technology allowed the lab to screen for over 60 conditions and disorders that include Amino Acid (AA), Urea Cycle (UCD), Fatty Acid Oxidation (FAO), and Organic Acid (OA) disorders, all from 5 small blood-spots.  Screening for Severe Combined Immune Deficiency (SCID) was added in 2011 and most recently, in early 2016, the lab began screening for Adrenoleukodystrophy (X-ALD).

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