Connecticut Department Of Public Health Newborn Screening Program Statistics1964-2003

Disorder Classical PKU Classical Galactosemia Hypothyroidism Sickle Cell Disease Traits MSUD Homocystinuria Biotinidase Deficiency Congenital Adrenal Hyperplasia Testing Initiated 1964 1964 1976 1990 1990 1993 1993 1993 1997 Infants Tested 1,788,853 1,788,853 1,213,384 637,809 637,809 468,996 468,996 468,996 274,239 Confirmed Cases 165 35 303 321 10,250 1 1 6 9 Disease Prevalence in CT 1 in 10,842 1 in 51,110 1 in 4,005 1 in 1987 (All Births) 1 in 62 (All Births) 1 in 468,996 1 in 468,996 1 in 78,166 1 in 30,471 1 in 230,028 1 in 343,650 1 in 61,319 1 in 18,987 National Incidence1 1 in 13,9472 1 in 53,2613 1 in 3,0444 1 in 3,721 / 73865

National Newborn Screening and Genetics Resource Center and newborn screening literature. Preliminary data on disorder incidence presented by the National Newborn Screening and Genetics Resource Center at the 2002 Newborn Screening and Genetic Testing Symposium and published in the GAO-03-449 State Newborn Screening Programs. Incidence rates are based on data from 1990 to 1999. 2 Incidence rate is for clinically significant hyperphenylalaninemia, which includes classical Phenylketonuria and clinically significant Phenylketonuria variant. 3 Incidence rate is for classical Galactosemia and does not include other forms of Galactosemia. 4 Incidence rate is for primary congenital hypothyroidism and does not include other forms of hypothyroidism. 5 Sickle cell anemia has an incidence of 1 in 3,721 while Hemoglobin sickle C disease has an incidence of 1 in 7,386.