TABLE. Aggregate newborn screening disorder frequency, prevalence, and expected cases compared with modeled 2006 data for selected disorders, based on frequencies reported in four states, 2001–2006* — 50 state NBS programs, United States, 2015–2017.
| Disorder | No. of cases reported 2015–2017† | No. of births§ | Rate (cases per 10,000 births) | 2006 modeled rate* | Rate difference | Expected no. of cases per year¶ |
|---|---|---|---|---|---|---|
|
Amino acid disorders
| ||||||
| Classical phenylketonuria and hyperphenylalaninemia |
691 |
11,750,876 |
0.59 |
0.52 |
0.07 |
223 |
| Maple syrup urine disease |
64 |
11,750,876 |
0.05 |
0.06 |
−0.01 |
21 |
| Homocystinuria |
18 |
11,750,876 |
0.02 |
0.03 |
−0.01 |
6 |
| Citrullinemia, type I |
75 |
11,750,876 |
0.06 |
0.06 |
0.01 |
24 |
| Argininosuccinic aciduria |
59 |
11,750,876 |
0.05 |
0.02 |
0.03 |
19 |
| Tyrosinemia, type I |
22 |
11,750,876 |
0.02 |
NR* |
—* |
7 |
|
Organic acid disorders
| ||||||
| Isovaleric acidemia |
84 |
11,750,876 |
0.07 |
0.08 |
−0.01 |
27 |
| Glutaric acidemia, type I |
104 |
11,750,876 |
0.09 |
0.09 |
−0.00 |
34 |
| 3-Hydroxy-3-methylglutaric aciduria |
6 |
11,750,876 |
0.01 |
0.01 |
−0.00 |
2 |
| 3-Methylcrotonyl-CoA carboxylase deficiency |
293 |
11,750,876 |
0.25 |
0.24 |
0.01 |
95 |
| Methylmalonic acidemia (methylmalonyl-CoA mutase) |
22 |
11,750,876 |
0.02 |
0.12 |
−0.10 |
7 |
| Propionic acidemia |
63 |
11,750,876 |
0.05 |
0.04 |
0.02 |
20 |
| Methylmalonic acidemia (cobalamin disorders) |
43 |
11,750,876 |
0.04 |
0.03 |
0.01 |
14 |
| Holocarboxylase synthase deficiency |
6 |
11,750,876 |
0.01 |
0.01 |
−0.00 |
2 |
| β-Ketothiolase deficiency |
8 |
11,750,876 |
0.01 |
0.02 |
−0.01 |
3 |
|
Fatty acid oxidation disorders
| ||||||
| Medium-chain acyl-CoA dehydrogenase deficiency |
689 |
11,750,876 |
0.59 |
0.58 |
0.01 |
222 |
| Very long-chain acyl-CoA dehydrogenase deficiency |
206 |
11,750,876 |
0.18 |
0.17 |
0.01 |
66 |
| Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency |
26 |
11,750,876 |
0.02 |
0.03 |
−0.01 |
8 |
| Trifunctional protein deficiency |
6 |
11,750,876 |
0.01 |
0.00 |
0.00 |
2 |
| Carnitine uptake defect/carnitine transport defect |
138 |
11,750,876 |
0.12 |
0.21 |
−0.09 |
45 |
|
Hemoglobinopathies
| ||||||
| SCD (includes S,S disease, S,beta-thalassemia, and S,C disease) |
5,808 |
11,750,876 |
4.94 |
4.29 |
0.65 |
1,874 |
|
Endocrine disorders
| ||||||
| Primary congenital hypothyroidism |
6,629 |
11,049,582 |
6.00 |
5.21 |
0.79 |
2,275 |
| Congenital adrenal hyperplasia |
819 |
11,750,876 |
0.70 |
0.49 |
0.21 |
264 |
|
Lysosomal storage disorders
| ||||||
| Glycogen storage disease, type II (Pompe) |
62 |
1,828,917 |
0.34 |
—** |
—** |
129 |
| Mucopolysaccharidosis, type 1 |
11 |
965,027 |
0.11 |
—** |
—** |
43 |
|
Other DBS screening disorders
| ||||||
| Biotinidase deficiency |
477 |
11,750,876 |
0.41 |
0.15 |
0.26 |
154 |
| Cystic fibrosis |
2,145 |
11,750,876 |
1.83 |
3.02 |
−1.19 |
692 |
| Classical galactosemia |
249 |
11,750,876 |
0.21 |
0.54 |
−0.33 |
80 |
| Severe combined immunodeficiencies |
220 |
9,763,119 |
0.23 |
—** |
—** |
85 |
| X-linked adrenoleukodystrophy |
83 |
1,561,394 |
0.53 |
—** |
—** |
202 |
|
Point-of-care screening disorders††
| ||||||
| Hearing loss |
19,167 |
11,611,293 |
16.51 |
9.90§§ |
6.61 |
6,259 |
|
Infants expected to be detected with an NBS disorder
|
12,905 |
|||||
| Prevalence per 10,000 births |
34.0 |
|||||
|
Infants expected to be detected via DBS screening
|
6,646 |
|||||
| Prevalence per 10,000 births, DBS only |
17.5 | |||||
Abbreviations: DBS = dried blood spot; NBS = newborn screening; NR = not reported; SCD = sickle cell disease.
* https://www.cdc.gov/mmwr/preview/mmwrhtml/mm5737a2.htm. Tyrosinemia, type I was not included because of unreliable data at the time of the report.
† Data were not available for the following disorders and states: primary congenital hypothyroidism from New York (2015–2017) and hearing loss from Colorado (2015–2017) and Minnesota (2015, 2016).
§ The number of births includes only births that occurred during 2015–2017 that each state conducted screening for the disorder and reported data to the Association of Public Health Laboratories, Newborn Screening Technical assistance and Evaluation Program or CDC’s Hearing Screening and Follow-up Survey.
¶ Disorder frequency based on 3,791,712 live births nationally (50 states and the District of Columbia [DC]) in 2018; all case numbers are rounded estimates.
** Not included on the Recommended Uniform Screening Panel in 2006.
†† State level data for critical congenital heart defects, the other point-of-care screen on the Recommended Uniform Screening Panel, are not included in this table as data are not available from most states despite universal screening in the United States for these disorders.
§§ Prevalence based on hearing loss cases reported by 45 states and DC in 2006 to CDC’s Hearing Screening and Follow-up Survey.