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NBS Data Reports

In accordance with Indiana law, the GNBS program tracks and reports data collected while carrying out newborn screening in Indiana.

screening helps to find and identify individuals who do not have any symptoms but may be at risk of having a disease or condition. Diagnostic testing, also called confirmatory testing, is done after screening identifies an individual as possibly having a condition. Testing will confirm or rule out the diagnosis. In other words, screenings identify, and testing confirms.

Initial screens are the first newborn screening collected from a baby. Repeat screens are any additional newborn screenings that are performed on the baby after the initial screen. Screening totals show how many of each type of heel stick screen (initial or repeat) happened each year. Repeat screenings are usually performed if the initial screen is presumptive positive.

Presumptive positive (pre-positive) screens are any screen that resulted potentially positive for a condition. Pre-positive screens require additional testing through a diagnostic test to confirm or rule out the diagnosis. Sometimes the blood collected from the initial screen is not of good enough quality to be analyzed. If this happens, a repeat screen will need to be collected.

Confirmed positive screens include all presumptive positive screens that were confirmed to be positive for the condition through confirmatory testing.

The reports below display the total number of confirmed positive cases of conditions in a given year.

Please note that these totals only reflect the number of cases that were confirmed through confirmatory testing. This does not include presumptive positive cases that did not receive confirmatory testing or were ruled out.

Confirmed NBS Conditions

Total Confirmed Amino Acid Disorders1071115
Argininemia (ARG)0000 
Argininosuccinic Aciduria (ASA)1010 
Benign Hyperphenylalaninemia (H-PHE)0425 
Biopterin Defect in Cofactor Regeneration (BIOPT-REG)0000 
Citrullinemia, Type I (CIT)1001 
Citrullinemia, Type II (CIT II)0000 
Classic Phenylketonuria (PKU)7288 
Hypermethioninemia (MET)0000 
Homocystinuria  (HCY)1000 
Maple Syrup Urine Disease (MSUD)0000 
Tyrosinemia, Type I (TYR I)0101 
Tyrosinemia, Type II (TYR II)0000 
Tyrosinemi, Type III (TYR III)0000 
Total Confirmed Endocrine Disorders46584442
Congenital Adrenal Hyperplasia (CAH)3722 
Congenital Hypothyroidism (CH)43514240 
Total Confirmed Fatty Acid Oxidation Disorders1692017
2, 4 Dienoyl-CoA Reductase Deficiency (DE RED)0000 
Carnitine Acylcarnitine Translocase Deficiency (CACT)0000 
Carnitine Palmitoyltransferase Type I Deficiency (CPT-I)0000 
Carnitine Palmitoyltransferase Type II Deficiency  (CPT-II)0001 
Carnitine Uptake Defect (CUD) aka Carnitine Transporter Deficiency (CTD)1000 
Glutaric Acidemia, Type II (GA-2)0200 
Long Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)0200 
Mediu-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)65114 
Medium-Chain Ketoacyl-CoA Thiolase Deficiency (MCAT)0000 
Medium/Short-ChainL-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)0000 
Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)2248 
Trifunctional Protein Deficiency (TFP)0000 

Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)

Total Confirmed Hemoglobinopathies43483740
Hb S/S (Sickle Cell Anemia)26282623 
Hb S/C1217815 
Hb S/Variant1000 
Hb S/Beta Thalassemia4332 
Beta Thalassemia1000 
Total Confirmed Organic Acid Disorders61688

2-Methyl-3-Hydroxybutyric Acidemia (2M3HBA)


2-Methylbutyrylglycinuria (2MBG) aka 2-Methylbutyryl CoA Dehydrogenase Deficiency


3-Hydroxy-3-Methylglutaric Aciduria (HMG)


3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)


3-Methylglutaconic Aciduria (3MGA)


Beta-Ketothiolase Deficiency (BKT)


Glutaric Acidemia, Type I (GA-1)


Isobutyrylglycinuria (IBG)


Isovaleric Acidemia (IVA)


Malonic Acidemia (MAL)


Methylmalonic Acidemia (Cobalamin Disorders) (Cbl A,B)


Methylmalonic Acidemia (Methymalonyl-CoA Mutase Deficiency) (MUT)


Methylmalonic Acidemia with Homocystinuria (Cbl C, D, F)


Propionic Acidemia (PROP)

Total Confirmed Lysosomal Storage Disorders (screening began 07/01/2020)---5
Mucopolysaccharidosis Type I (MPS-I)---0 
MPS-I Pseudodeficiency---2 
Pompe - Infantile Onset---1 
Pompe - Late Onset---2 
Total Other Disorders31333042
Biotinidase Deficiency (BIOT)4766 
Classic Galactosemia (GALT)2211 
Duarte Galactosemia      
Cystic Fibrosis (CF)25241730 
Severe Combined Immunodeficiency (SCID) - Screening began 07/2018-020 
Spinal Muscular Atrophy (SMA) - Screening began 07/2018-045 
Total Confirmed Newborn Screening Conditions 140152141154 

Click on image to expand.

NBS Condition Carrier Data

NBS Condition Trait/Carrier Type20172018201920202021
Cystic Fibrosis Carrier243209204194 
Hemoglobin S Trait (Sickle Cell Carrier)1022102311851208 

Newborn Screen Type: Initial vs. Repeat

YearTotal ScreensInitial ScreensRepeat Screens% Repeats

Page last revised 6/27/2022 by JWeaver