Newborn Screening
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Newborn Screening Data Summaries
On this page:
Blood spot screening overview
Newborns diagnosed with a blood spot screening disorder
Blood spot disorder specific data
Data notes
The Newborn Screening Program is built on quickly finding infants at risk for health conditions on the newborn screening panel. This is important so that treatment can start early in an effort to prevent health problems from happening, or improve the lives of the children found to have one of the newborn screening conditions. Below are new summary data dashboards on the number of newborns screened and the conditions identified.
Note, these dashboards are best viewed on a desktop computer or tablet.
Blood spot screening overview
Newborns diagnosed with a blood spot screening disorder
Blood spot disorder specific data
Data notes
Currently summary data are only available for blood spot screening data. We hope to add hearing screening and pulse oximetry (heart) screening data summaries soon. We expect to update these data summaries annually.
Data set: access to the data sets used to create these dashboards is provided below.
Newborn Screening Blood Spot Dashboard Data file (Excel Worksheet)
Data population: infants born in Minnesota during 2017-2022 who were screened by the Minnesota Newborn Screening Program.
Data denominators: the number of newborns screened each birth year are provided on the summaries, with the exception of conditions that were added part way through a birth year:
- X-linked adrenoleukodystrophy: screening began 2/6/2017: 66,004 newborns
- Mucopolysaccharidosis type I and Pompe disease: screening began 8/1/2017: 27,970 newborns
- Spinal muscular atrophy: screening began 3/1/2018: 55,871 newborns
For a full timeline of when conditions were added to the MDH newborn screening panel, visit Newborn Screening Panel and Timeline.
Data accuracy: because of a small number of newborns affected with some conditions identified by newborn screening, caution should be used when attempting to make conclusions based on these data.
Cases not identified by newborn screening:
Newborn screening is population-based screening. When tests are used for population-based screening, they will ideally catch newborns who truly have a condition, AND some newborns who don’t have the condition (false positive).
A false negative, when a newborn has a condition but the screen still has a normal result, can sometimes happen. This usually happens because of health circumstances in the newborn or birthing parent that could affect the test results.
The Minnesota Newborn Screening Program relies on health care providers to let us know when they find a child to have a condition that should have been found during screening, but was missed due to a false negative result. False negative data are not included in these summaries.
Demographic information: based on mother's county of residence, as self-reported on the birth certificate. The 7-county metro area is defined as Anoka, Carver, Dakota, Hennepin, Ramsey, Scott, and Washington counties.
Currently, only mother’s race and ethnicity are available for blood spot screening data. Therefore complete race and ethnicity information is not available at the infant level and these demographic data are not presented here.
Congenital Cytomegalovirus (cCMV) diagnosis definition:
Infants with CMV detected on newborn screening who were confirmed with congenital CMV are categorized according to the national public health surveillance case definition at Congenital Cytomegalovirus (cCMV) Infection and Disease 2024 Case Definition. Infants with confirmed cCMV infection have confirmatory laboratory evidence of infection. Infants with confirmed cCMV disease meet clinical criteria and have confirmatory laboratory evidence of infection. Clinical criteria include hepatomegaly, splenomegaly, petechial rash or purpura, microcephaly, neuroimaging abnormalities consistent with cCMV, permanent hearing loss, seizures, cerebral palsy, chorioretinitis, and vision impairment resulting from conditions consistent with cCMV. Infants with cCMV may develop conditions that are included in the case definition’s clinical criteria (e.g., permanent hearing loss) over time and would be reclassified as appropriate annually.
Metabolic disorder (amino acidemias, organic acidemias, fatty acid oxidation disorders) outcome definition:
Primary target disorders include:
3-Methylcrotonyl-CoA carboxylase deficiency, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, argininosuccinate acidemia, beta ketothiolase deficiency, carnitine uptake defect, citrullinemia type I, cobalamin A disease, cobalamin B disease, deficiency of methylmalonyl coenzyme A mutase, glutaric acidemia type I, homocystinuria, isovaleric acidemia, long-chain hydroxyacyl-CoA dehydrogenase deficiency, maple syrup urine disease, medium-chain acyl-CoA dehydrogenase deficiency, multiple CoA carboxylase deficiency, phenylketonuria, propionic acidemia, trifunctional protein deficiency, tyrosinemia type I, very long-chain acyl-CoA dehydrogenase deficiency.
Secondary target disorders include:
3-Methylglutaconyl-CoA hydratase deficiency, 2-Methylbutyryl-CoA dehydrogenase deficiency, 2-Methyl-3-hydroxybutyric acidemia, argininemia, biopterin cofactor defects, carnitine acylcarnitine translocase deficiency, carnitine palmitoyltransferase deficiency I and II, citrullinemia type II, cobalamin C disease, cobalamin D disease, dienoyl-CoA reductase deficiency, hypermethioninemia, hyperphenylalaninemia, isobutyryl-CoA dehydrogenase deficiency, malonic acidemia, medium-chain keto acyl-CoA thiolase deficiency, medium/short-chain hydroxy acyl-CoA dehydrogenase deficiency, short-chain acyl-CoA dehydrogenase deficiency, tyrosinemia type II and III.
Other metabolic disorders can include:
B12 deficiency, carbamoyl-phosphate synthetase I deficiency, cobalamin E disease, cobalamin G disease, cobalamin J disease, ethylmalonic encephalopathy, glutamate formiminotransferase deficiency, hydroxyprolinemia, methylmalonic acidemia (transcobalamin receptor defect), methylmalonic acidemia and homocystinuria (Cobalamin F), MTHFR and homocystinuria, N-acetylglutamate synthetase deficiency, ornithine transcarbamylase deficiency, pyruvate carboxylase deficiency, transcobalamin I and II deficiencies, transient tyrosinemia, transient hyperphenylalaninemia.
For more details about these disorders and informational fact sheets, visit Blood Spot Screening Disorder Fact Sheets.
For questions about the data you see here, or to request the information in an alternate format, email health.newbornscreening@state.mn.us.