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Enhanced interpretation of newborn screening results without analyte cutoff values.

Authors :
Marquardt G
Currier R
McHugh DM
Gavrilov D
Magera MJ
Matern D
Oglesbee D
Raymond K
Rinaldo P
Smith EH
Tortorelli S
Turgeon CT
Lorey F
Wilcken B
Wiley V
Greed LC
Lewis B
Boemer F
Schoos R
Marie S
Vincent MF
Sica YC
Domingos MT
Al-Thihli K
Sinclair G
Al-Dirbashi OY
Chakraborty P
Dymerski M
Porter C
Manning A
Seashore MR
Quesada J
Reuben A
Chrastina P
Hornik P
Atef Mandour I
Atty Sharaf SA
Bodamer O
Dy B
Torres J
Zori R
Cheillan D
Vianey-Saban C
Ludvigson D
Stembridge A
Bonham J
Downing M
Dotsikas Y
Loukas YL
Papakonstantinou V
Zacharioudakis GS
Baráth Á
Karg E
Franzson L
Jonsson JJ
Breen NN
Lesko BG
Berberich SL
Turner K
Ruoppolo M
Scolamiero E
Antonozzi I
Carducci C
Caruso U
Cassanello M
la Marca G
Pasquini E
Di Gangi IM
Giordano G
Camilot M
Teofoli F
Manos SM
Peterson CK
Mayfield Gibson SK
Sevier DW
Lee SY
Park HD
Khneisser I
Browning P
Gulamali-Majid F
Watson MS
Eaton RB
Sahai I
Ruiz C
Torres R
Seeterlin MA
Stanley EL
Hietala A
McCann M
Campbell C
Hopkins PV
de Sain-Van der Velden MG
Elvers B
Morrissey MA
Sunny S
Knoll D
Webster D
Frazier DM
McClure JD
Sesser DE
Willis SA
Rocha H
Vilarinho L
John C
Lim J
Caldwell SG
Tomashitis K
Castiñeiras Ramos DE
Cocho de Juan JA
Rueda Fernández I
Yahyaoui Macías R
Egea-Mellado JM
González-Gallego I
Delgado Pecellin C
García-Valdecasas Bermejo MS
Chien YH
Hwu WL
Childs T
McKeever CD
Tanyalcin T
Abdulrahman M
Queijo C
Lemes A
Davis T
Hoffman W
Baker M
Hoffman GL
Source :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2012 Jul; Vol. 14 (7), pp. 648-55. Date of Electronic Publication: 2012 Feb 16.
Publication Year :
2012

Abstract

Purpose: To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries.<br />Methods: A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition software that generates tools integrating multiple clinically significant results into a single score. This score is determined by the overlap between normal and disease ranges, penetration within the disease range, differences between conditions, and weighted correction factors.<br />Results: Ninety tools target either a single condition or the differential diagnosis between multiple conditions. Scores are expressed as the percentile rank among all cases with the same condition and are compared to interpretation guidelines. Retrospective evaluation of past cases suggests that these tools could have avoided at least half of 279 false-positive outcomes caused by carrier status for fatty-acid oxidation disorders and could have prevented 88% of known false-negative events.<br />Conclusion: Application of this computational approach to raw data is independent from single analyte cutoff values. In Minnesota, the tools have been a major contributing factor to the sustained achievement of a false-positive rate below 0.1% and a positive predictive value above 60%.

Details

Language :
English
ISSN :
1530-0366
Volume :
14
Issue :
7
Database :
MEDLINE
Journal :
Genetics in medicine : official journal of the American College of Medical Genetics
Publication Type :
Academic Journal
Accession number :
22766634
Full Text :
https://doi.org/10.1038/gim.2012.2