Past Studies Using Specimens and Test Results after Newborn Screening

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Past Studies Using Specimens and Test Results after Newborn Screening

On this page:
How Minnesota babies benefit from dried blood spot use
Newborn Screening studies
Non-Newborn Screening studies

How Minnesota babies benefit from dried blood spot use

Dried blood spots allow scientists to modify existing newborn screening tests so that Minnesota babies with newborn screening disorders continue to be found and treated as quickly as possible. Dried blood spots also allow for new newborn screening tests to be developed and improved. More newborn screening tests means more children with life or health threatening diseases are found early and treated before permanent damage can occur.

Dried blood spots can help Minnesota babies in other ways unrelated to newborn screening. If an infant dies without a cause of death being confirmed, and treatment prior to death (for example, blood transfusion) precludes evaluation, the infant's dried blood spots may be requested. For the purpose of closure in explaining the cause of the infant's death and providing risk information to the family for future pregnancies, a physician or genetic counselor may request a newborn specimen for diagnostic testing.

Throughout the world, dried blood spots are used to examine public health issues like childhood cancer, type I diabetes, lead poisoning, cytomegalovirus infection, and HIV/AIDS and other disorders affecting children.

Newborn Screening studies*

Glossary

**Studies for the Purpose of Quality Assurance/Quality Improvements for Existing Screening Tests.**

A valuable use of dried blood spots in newborn screening is for the purpose of internal quality control and improvement. Dried blood spots (especially ones from patients who have a confirmed diagnosis of newborn screening disorders) are used as internal controls. Anonymized dried blood spot specimens are used for all new assay kit validations (when a new disorder is added to our screening panel), any new instrument validations, and new/improved or competitive assay kit validations. Inter-instrument comparisons are performed frequently for the purpose of quality control testing or troubleshooting technical problems.

The MDH Newborn Screening Program has voluntarily cooperated with the primary vendors of newborn screening laboratory supplies to test new kits designed to improve the speed and accuracy of newborn screening. This activity uses specimens and data that are anonymized.
Year Started	Study Description	Institution	# of Specimens	Project Status	IRB Approval	Description/Publication
2011	Bio-Rad Variant ™ Newborn Screening Sickle Cell Program Evaluation Evaluation: Evaluation of a new software upgrade to improve cleaning of residual hemoglobin from the instrument’s wash station using routine specimens from the state of Minnesota’s Newborn Screening Program.	Bio-Rad Labs and MDH	1260	Closed	Exempt	Unpublished
2010	Astoria-Pacific Spotcheck®GALT Microplate Reagent Kit and Spotcheck® Pro System Evaluation Evaluation: Evaluation of a new Spotcheck®GALT kit and automated liquid handler (Spotcheck® Pro System) using routine specimens from the state of Minnesota’s Newborn Screening Program.	Astoria-Pacific and MDH	1836	Closed	Exempt	Unpublished
2009	Astoria-Pacific Spotcheck® Biotinidase Microplate Reagent Kit Evaluation: Evaluation of a new Spotcheck® Biotinidase kit using routine specimens from the state of Minnesota's Newborn Screening Program	Astoria-Pacific and MDH	1548	Closed	Exempt	Unpublished
2008	Alloisoleucine Quantification by Tandem Mass Spectrometry Improving newborn screening for Maple Syrup Urine Disease Evaluating second-tier test All specimens de-identified Summary: This study was conducted to improve newborn screening for a condition called Maple Syrup Urine Disease. Improving newborn screening for this disease benefits both infants and families with and without the disease. Improved screening reduces false-positive results, family anxiety, and follow-up costs, while ensuring that all children with the disease are found quickly.	Mayo	560	Closed	Yes	Oglesbee, D., et al. 2008. Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). Clin Chem: 54:542-549.
2008	UGT1A1 and C3-acylcarnitine in neonatal hyperbilirubinemia Understanding neonatal hyperbilirubinemia and its relationship to MS/MS screening. Informed consent Summary: There are many things that can affect newborn screening results. For example, newborns with jaundice (elevated bilirubin) are more likely to have abnormal newborn screening results. This study was done to see how elevated bilirubin might affect newborn screening results.	Mayo	178	Closed	Yes	UNPUBLISHED
2007	Validation of CYP21 Genotyping for Blood Spot Specimens and Correlation with Biochemical Phenotype Data Improving molecular diagnosis of CAH Better understanding relationship between genotypic and phenotypic information in CAH. All specimens de-identified Summary: This study was conducted to improve newborn screening for a condition called Congenital Adrenal Hyperlasia (CAH). This study helps to better understand the relationship between the test results and how the disease progresses, so that families can be given more accurate information about their child’s diagnosis and health outcomes for the child can be improved.	Mayo	238	Open	Yes	UNPUBLISHED; STUDY IN PROCESS
2007	Evaluation study for the 3029-0010 Neonatal Total Galactose Kit Determine if new kit would increase positive predictive value for galactosemia All specimens de-identified. Summary: This study worked to improve newborn screening for a condition called Galactosemia. New screening technology was examined to see if MDH could reduce false-positive results for Galactosemia. Reducing false positive results also reduces family anxiety and follow-up costs for the family.	Perkin Elmer MDH	2000	Closed	Exempt	UNPUBLISHED
2007	New GALT feasibility study Determining feasibility of a new neonatal GALT assay Assay improves laboratory detection time for galactosemia. All specimens de-identified Summary: This study was conducted to examine potential improvements in newborn screening for a condition called Galactosemia. New screening technology was tested to see if MDH could improve the detection time for Galactosemia. Since Galactosemia can cause many health problems and even result in death within the first few days of life, it is important for MDH to get results as soon as possible.	Perkin Elmer MDH	2000	Closed	Exempt	UNPUBLISHED
2007	Evaluation study for the neonatal screening analyte 17-OHP using the AutoDELFIA/DELFIA platform Evaluation of new antibody for 17-OHP Determine if new antibody would have better specificity for low birthweight babies All specimens de-identified Summary: MDH is committed to improving newborn screening for ALL babies born in Minnesota. This study was conducted to determine if screening for a condition called Congenital Adrenal Hyperplasia (CAH) could be automated in the laboratory to make the testing more efficient. Efficient testing means that newborns with CAH are found early and intervention starts as soon as possible.	Perkin Elmer MDH	1900	Closed	Exempt	UNPUBLISHED
2005	Development of a Diagnostic Algorithm for Isobutyryl-CoA Dehydrogenase Deficiency Developed algorithm for rapid laboratory evaluation of neonates with an isolated elevation of C4-acylcarnitine through newborn screening All specimens were de-identified Summary: This study was conducted to better screen for a condition called Isobutyryl-CoA Dehydrogenase Deficiency. Previously, screening for this disease was difficult since initial screen results were not very informative. Developing this new method of screening allows for this life-threatening disorder to be diagnosed more quickly and treatment to be started right away.	Mayo	100	Closed	Yes	Oglesbee, D., et al. 2007. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med: 9(2): 108-116.

**Studies for the Purpose of Evaluation / Feasibility of New Screening Tests**
Without dried blood spots, the development of new tests for newborn screening would not be possible. Residual dried blood spots are necessary to evaluate whether it is feasible to screen a disorder through newborn screening. Adult and childhood blood contain different analytes than newborn blood making them unusable for the purpose of newborn screening test development.
Year Started	Study Description	Institution	# of Specimens	Project Status	IRB Approved	Description/Publication
2006	Clinical and Molecular Approach to Diagnosis of Congenital Cytomegalovirus (CMV) infection in Children with Sensorineural Hearing Loss. Parents signed informed consent Retrospective study in children identified as hearing-impaired. Summary: There are many causes of congenital hearing loss, which can impact a family differently. One cause of early hearing loss is CMV, an infection that can cause problems in babies even before they are born. Unfortunately, it is difficult to determine if CMV was the cause of a baby’s hearing loss. Only a specimen from the baby immediately after birth (like a newborn screening specimen) can help determine if CMV was the cause. This study gives families more information about the cause of their child’s hearing loss.	UMN	300	Open	Yes	UNPUBLISHED; STUDY IN PROCESS The Pediatric Infectious Disease Journal
2006	Combined Genetic and CMV Screening to Improve Detection in Newborn Hearing Screening Programs 1811 Specimens with Refer/Refer Hearing Results 1811 Control Specimens All specimens are de-identified Summary: As CMV may be responsible for up to 40% of all deafness in infants, it is important to be able to look for this infection in the newborn period. Because newborn hearing screening will miss many cases of hearing loss caused by CMV, it is important to find this infection right away. Developing a method of finding CMV infections can help families learn about their babies hearing loss and get the resources they need for intervention right away.	UMN / MDH	3622	Open	Yes	UNPUBLISHED; STUDY IN PROCESS Evaluation of newborn screening blood spot-based genetic testing as second tier screen for bedside newborn hearing screening
2006	Feasibility and validity study of obtaining dried blood spots “Guthrie Cards” for molecular epidemiology studies Development and testing of new cancer screening assays All specimens were de-identified. Summary: This study was done to help determine risk factors for childhood cancer in the hopes that someday, screening might be available to help find childhood cancer earlier. Thanks to advancements in cancer screening, children who are more susceptible to childhood cancer can get early care to help prevent cancer from developing.	UMN / MDH	100	Closed	Yes	UNPUBLISHED Newborn Screening: Childhood Cancer (more study information) (pdf: 10KB/1 page)
2005	Neonatal Screening for Wilson Disease Autosomal recessive disorder of copper transport Approx. incidence 1:30,000 Progressive and fatal if untreated Investigated feasibility of newborn screening for Wilson Disease All specimens were de-identified Summary: This study was conducted to examine the possibility of screening for a condition called Wilson Disease. Wilson Disease is a serious condition that can be fatal if not found early. Adding newborn screening for Wilson Disease would give children with this disorder early treatment and a chance to live a healthy life.	Mayo / MDH	40,000	Closed	Yes	Kroll, CA., et al. 2006. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol Genet Metab: 89:134-138. Newborn Screening: Wilson Disease (more study information) (pdf: 11KB/1 page)

Non-Newborn Screening studies*

**Emerging Issues in Public Health**
The use of dried blood spots allows for ideal study designs that have the potential to contribute to public health. Dried blood spots can help form an understanding of how genes contribute to common diseases, examine underlying molecular pathways involved in disease, and provide population-level insight for public health decisions.
Year Started	Study Description	Institution	# of Specimens	Project Status	IRB Approval	Description/Publication
2008	Molecular Testing for CMV Infection in Newborn Blood Spots of Infants who Died of Sudden Infant Death Syndrome (SIDS). Used information from the MN Center for Health Statistics Improved understanding of SIDS. All specimens are de-identified. Summary: This study was done to examine the link between CMV infection and SIDS. Determining if a link does exist between CMV and SIDS can help better understand how SIDS happens. If a link does exist, newborn screening for CMV infection may also help identify babies who are at a greater risk of dying from SIDS.	UMN / MDH	500	Open	Yes	UNPUBLISHED; STUDY IN PROCESS
2008	Mercury levels in Blood from Newborns in the Lake Superior Basin Collaborative study with two other states Assess feasibility of measuring mercury in dried blood spots Informed consent will be obtained All specimens will be de-identified. Summary: Exposure of young infants to environmental toxins is a public health concern. Babies exposed to mercury either prenatally or after birth can develop neurodevelopmental problems. This study is examining the possibility of measuring mercury levels in newborn screening blood spots to see if pollution in our region is affecting the most vulnerable citizens of our state.	MDH	1140	Open	Yes	Study opened 11/08
2000	Methods to recruit an ethnically diverse cohort of pregnant women from WIC Pilot study to examine feasibility of following an ethnically diverse population for childhood cancer control Collected blood samples from mother and infant for testing related to adverse birth outcomes Informed consent was obtained. Summary: This study was done to determine whether fetal exposure to tobacco could be examined in newborn screening specimens. Babies exposed to tobacco in the prenatal period may be at greater risk of developing childhood cancers. It is hard to know if babies were exposed to tobacco smoke before birth. Knowing whether a baby was exposed to tobacco may help to find those babies who are more at risk for cancer.	UMN / MDH	20	Closed	Yes	Spector, LG., et al. 2007. Detection of cotinine in newborn dried blood spots. Cancer Epidemiol Biomarkers Prev: 16:1902-1905.
1997	Integrating Host Genomics with Surveillance for Invasive Bacterial Disease: Active Bacterial Core Surveillance (ABCs) Identify cases of invasive encapsulated bacterial infection 406 Case specimens 812 Control specimens Case specimens received informed consent All specimens were de-identified. Summary: This study was conducted to look for factors that might make a baby more vulnerable to infectious diseases. If factors are found that may lead an individual to be more susceptible to infectious diseases such as Meningitis, those individuals could receive needed vaccinations and other interventions to help stop the disease from developing.	CDC	1218	Closed	Yes	Crawford, DC., et al. 2008. Integrating host genomics with surveillance for invasive bacterial diseases. Emerg Infec Dis: 14(7): 1138-1140