Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007)
Summary The continued expansion of newborn screening programmes to include additional conditions increases the responsibility of newborn screening laboratories to provide testing with the highest sensitivity and specificity to allow for identification of affected patients while minimizing the false‐...
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Published in | Journal of inherited metabolic disease Vol. 30; no. 4; pp. 585 - 592 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
Dordrecht
Springer Netherlands
01.08.2007
Blackwell Publishing Ltd |
Subjects | |
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Abstract | Summary
The continued expansion of newborn screening programmes to include additional conditions increases the responsibility of newborn screening laboratories to provide testing with the highest sensitivity and specificity to allow for identification of affected patients while minimizing the false‐positive rate. Some assays and analytes are particularly problematic. Over recent years, our laboratory tried to improve this situation by developing second‐tier tests to reduce false‐positive results in the screening for congenital adrenal hyperplasia (CAH), tyrosinaemia type I, methylmalonic acidaemias, homocystinuria, and maple syrup urine disease (MSUD). Beginning in 2004, this approach was applied to Mayo's newborn screening programme and resulted in a false‐positive rate of 0.09%, a positive predictive value of 41%, and a positive detection rate of 1 affected case in 1672 babies screened. |
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AbstractList | The continued expansion of newborn screening programmes to include additional conditions increases the responsibility of newborn screening laboratories to provide testing with the highest sensitivity and specificity to allow for identification of affected patients while minimizing the false-positive rate. Some assays and analytes are particularly problematic. Over recent years, our laboratory tried to improve this situation by developing second-tier tests to reduce false-positive results in the screening for congenital adrenal hyperplasia (CAH), tyrosinaemia type I, methylmalonic acidaemias, homocystinuria, and maple syrup urine disease (MSUD). Beginning in 2004, this approach was applied to Mayo's newborn screening programme and resulted in a false-positive rate of 0.09%, a positive predictive value of 41%, and a positive detection rate of 1 affected case in 1672 babies screened. Summary The continued expansion of newborn screening programmes to include additional conditions increases the responsibility of newborn screening laboratories to provide testing with the highest sensitivity and specificity to allow for identification of affected patients while minimizing the false‐positive rate. Some assays and analytes are particularly problematic. Over recent years, our laboratory tried to improve this situation by developing second‐tier tests to reduce false‐positive results in the screening for congenital adrenal hyperplasia (CAH), tyrosinaemia type I, methylmalonic acidaemias, homocystinuria, and maple syrup urine disease (MSUD). Beginning in 2004, this approach was applied to Mayo's newborn screening programme and resulted in a false‐positive rate of 0.09%, a positive predictive value of 41%, and a positive detection rate of 1 affected case in 1672 babies screened. The continued expansion of newborn screening programmes to include additional conditions increases the responsibility of newborn screening laboratories to provide testing with the highest sensitivity and specificity to allow for identification of affected patients while minimizing the false-positive rate. Some assays and analytes are particularly problematic. Over recent years, our laboratory tried to improve this situation by developing second-tier tests to reduce false-positive results in the screening for congenital adrenal hyperplasia (CAH), tyrosinaemia type I, methylmalonic acidaemias, homocystinuria, and maple syrup urine disease (MSUD). Beginning in 2004, this approach was applied to Mayo's newborn screening programme and resulted in a false-positive rate of 0.09%, a positive predictive value of 41%, and a positive detection rate of 1 affected case in 1672 babies screened. [PUBLICATION ABSTRACT] |
Author | Tortorelli, S. Matern, D. Oglesbee, D. Gavrilov, D. Rinaldo, P. |
Author_xml | – sequence: 1 givenname: D. surname: Matern fullname: Matern, D. email: matern@mayo.edu organization: Mayo Clinic College of Medicine, Biochemical Genetics Laboratory – sequence: 2 givenname: S. surname: Tortorelli fullname: Tortorelli, S. organization: Mayo Clinic College of Medicine – sequence: 3 givenname: D. surname: Oglesbee fullname: Oglesbee, D. organization: Mayo Clinic College of Medicine – sequence: 4 givenname: D. surname: Gavrilov fullname: Gavrilov, D. organization: Mayo Clinic College of Medicine – sequence: 5 givenname: P. surname: Rinaldo fullname: Rinaldo, P. organization: Mayo Clinic College of Medicine |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/17643193$$D View this record in MEDLINE/PubMed |
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The continued expansion of newborn screening programmes to include additional conditions increases the responsibility of newborn screening laboratories... The continued expansion of newborn screening programmes to include additional conditions increases the responsibility of newborn screening laboratories to... |
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SubjectTerms | Adrenal Hyperplasia, Congenital - blood Adrenal Hyperplasia, Congenital - diagnosis False Positive Reactions Homocystinuria - blood Homocystinuria - diagnosis Humans Infant, Newborn Maple Syrup Urine Disease - blood Maple Syrup Urine Disease - diagnosis Mass Spectrometry - methods Neonatal Screening - methods Predictive Value of Tests Sensitivity and Specificity Time Factors Tyrosinemias - blood Tyrosinemias - diagnosis Vitamin B 12 Deficiency - blood Vitamin B 12 Deficiency - diagnosis |
Title | Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007) |
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