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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

CONDITIONS

2017

2018

2019

2020

Amino Acid Disorders

10

7

11

15

Argininemia (ARG)

0

0

0

0

Argininosuccinic Aciduria (ASA)

1

0

1

0

Benign hyperphenylalaninemia (H-PHE)

0

4

2

5

Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)

0

0

0

0

Biopterin Defect in Cofactor Regeneration (BIOPT-REG)

0

0

0

0

Citrullinemia, Type I (CIT)

1

0

0

1

Citrullinemia, Type II (CIT II)

0

0

0

0

Classic Phenylketonuria (PKU)

7

2

8

8

Hypermethioninemia (MET)

0

0

0

0

Homocystinuria (HCY)

1

0

0

0

Maple Syrup Urine Disease (MSUD)

0

0

0

0

Tyrosinemia, Type I (TYR I)

0

1

0

1

Tyrosinemia, Type II (TYR II)

0

0

0

0

Tyrosinemia, Type III (TYR III)

0

0

0

0

Endocrine Disorders

46

58

44

42

Congenital Adrenal Hyperplasia (CAH)

3

7

2

2

Primary Congenital Hypothyroidism (CH)

43

51

42

40

Fatty Acid Oxidation Disorders

16

9

20

17

2, 4 Dienoyl-CoA Reductase Deficiency (DE RED)

0

0

0

0

Carnitine Acylcarnitine Translocase Deficiency (CACT)

0

0

0

0

Carnitine Palmitoyltransferase I Deficiency (CPT-IA)

0

0

0

0

Carnitine Palmitoyltranferase Type II Deficiency (CPT-II)

0

0

0

1

Carnitine Uptake Defect (CUD) aka Carnitine Transporter Deficiency (CTD)

1

0

0

0

Glutaric Acidemia, Type II (GA-2)

0

2

0

0

Long Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)

2

0

0

0

Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)

6

5

11

4

Medium-Chain Ketoacyl-CoA Thiolase Deficiency (MCAT)

0

0

0

0

Medium/Short-Chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)

0

0

0

0

Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)

2

2

4

8

Trifunctional Protein Deficiency (TFP)

0

0

0

0

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

5

0

5

4

Hemoglobinopathies

43

48

37

40

Hb S/S (Sickle Cell Anemia)

26

28

26

23

Hb S/C

12

17

8

15

Hb S/Variant

1

0

0

0

Hb S/Beta Thalassemia 4 3 3 2

Beta Thalassemia

1

0

0

0

Organic Acid Disorders

6

16

8

8

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

3

8

4

0

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

0

3

0

0

3-Hydroxy-3-Methylglutaric Aciduria (HMG)

0

0

0

0

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

2

4

1

4

3-Methylglutaconic Aciduria (3MGA)

0

0

0

0

Beta-Ketothiolase Deficiency (BKT)

0

0

0

0

Glutaric Acidemia, Type I (GA-1)

0

0

1

0

Isobutyrylglycinuria (IBG)

0

0

1

0

Isovaleric Acidemia (IVA)

0

0

0

0

Malonic Acidemia (MAL)

0

0

0

0

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

0

0

0

0

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

0

0

1

0

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

0

0

0

0

Propionic Acidemia (PROP)

1

1

0

4

Lysosomal Storage Disorders (began screening 07/01/2020)

-

-

-

5

Krabbe

-

-

-

0

MPS1 (Mucopolysaccharidosis type I)

-

-

-

0

MPS1 - Pseudodeficiency

-

-

-

2

Pompe - Infantile Onset

-

-

-

1

Pompe - Late Onset

-

-

-

2

Other Disorders (began screening for SCID & SMA 07/01/2019)

31

33

30

42

Biotinidase Deficiency (BIOT)

4

7

6

6

Classic Galactosemia (GALT)

2

2

1

1

Cystic Fibrosis (CF)

25

24

17

30

Severe Combined Immunodeficiency (SCID)

-

0

2

0

Spinal Muscular Atrophy (SMA)

-

0

4

5

All NBS Conditions Total

140

152

141

154

Click on each image to expand them.

 

 

NBS Condition Carrier Data

NBS Condition Trait/Carrier

2017

2018

2019

2020

Cystic Fibrosis Carrier

243

209

204

194

Hemoglobin S Trait (Sickle Cell Carrier)

1022

1023

1185

1208

 

 

 

 

 

 

 

 

 

 

 

Initial and Repeat NBS Data

Initial & Repeat Newborn Screens

Year

Total Screens

Initial Screens

Repeat Screens

Percent Repeats

2020

88899

78806

10093

11.4%

2019

91160

81385

9775

10.7%

2018

94676

82015

12661

13.4%

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

Page last revised 3/31/2021 by JWeaver