Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand
The positive predictive value of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was <2% in New Zealand. This is despite a bloodspot second-tier immunoassay method for 17-hydroxyprogesterone measurement with an additional solvent extract step to reduce th...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2020-01-01
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| Series: | International Journal of Neonatal Screening |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2409-515X/6/1/6 |
| _version_ | 1818187112002879488 |
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| author | Mark R de Hora Natasha L Heather Tejal Patel Lauren G Bresnahan Dianne Webster Paul L Hofman |
| author_facet | Mark R de Hora Natasha L Heather Tejal Patel Lauren G Bresnahan Dianne Webster Paul L Hofman |
| author_sort | Mark R de Hora |
| collection | DOAJ |
| description | The positive predictive value of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was <2% in New Zealand. This is despite a bloodspot second-tier immunoassay method for 17-hydroxyprogesterone measurement with an additional solvent extract step to reduce the number of false positive screening tests. We developed a liquid chromatography tandem mass spectrometry (LCMSMS) method to measure 17-hydroxyprogesterone in bloodspots to replace our current second-tier immunoassay method. The method was assessed using reference material and residual samples with a positive newborn screening result. Correlation with the second-tier immunoassay was determined and the method was implemented. Newborn screening performance was assessed by comparing screening metrics 2 years before and 2 years after LCMSMS implementation. Screening data analysis demonstrated the number of false positive screening tests was reduced from 172 to 40 in the 2 years after LCMSMS implementation. The positive predictive value of screening significantly increased from 1.71% to 11.1% (X<sup>2</sup> test, <i>p </i><<i> </i>0.0001). LCMSMS analysis of 17OHP as a second-tier test significantly improves screening specificity for CAH due to 21-hydroxylase deficiency in New Zealand. |
| first_indexed | 2024-12-11T23:05:51Z |
| format | Article |
| id | doaj.art-349d555edf2f411ebc5a73a24b5139c5 |
| institution | Directory Open Access Journal |
| issn | 2409-515X |
| language | English |
| last_indexed | 2024-12-11T23:05:51Z |
| publishDate | 2020-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Neonatal Screening |
| spelling | doaj.art-349d555edf2f411ebc5a73a24b5139c52022-12-22T00:46:55ZengMDPI AGInternational Journal of Neonatal Screening2409-515X2020-01-0161610.3390/ijns6010006ijns6010006Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New ZealandMark R de Hora0Natasha L Heather1Tejal Patel2Lauren G Bresnahan3Dianne Webster4Paul L Hofman5Newborn Screening, Specialist Chemical Pathology, LabPlus, Auckland City Hospital, Auckland 1023, New ZealandNewborn Screening, Specialist Chemical Pathology, LabPlus, Auckland City Hospital, Auckland 1023, New ZealandNewborn Screening, Specialist Chemical Pathology, LabPlus, Auckland City Hospital, Auckland 1023, New ZealandNewborn Screening, Specialist Chemical Pathology, LabPlus, Auckland City Hospital, Auckland 1023, New ZealandNewborn Screening, Specialist Chemical Pathology, LabPlus, Auckland City Hospital, Auckland 1023, New ZealandClinical Research Unit, Liggins Institute, University of Auckland, Auckland 1010, New ZealandThe positive predictive value of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was <2% in New Zealand. This is despite a bloodspot second-tier immunoassay method for 17-hydroxyprogesterone measurement with an additional solvent extract step to reduce the number of false positive screening tests. We developed a liquid chromatography tandem mass spectrometry (LCMSMS) method to measure 17-hydroxyprogesterone in bloodspots to replace our current second-tier immunoassay method. The method was assessed using reference material and residual samples with a positive newborn screening result. Correlation with the second-tier immunoassay was determined and the method was implemented. Newborn screening performance was assessed by comparing screening metrics 2 years before and 2 years after LCMSMS implementation. Screening data analysis demonstrated the number of false positive screening tests was reduced from 172 to 40 in the 2 years after LCMSMS implementation. The positive predictive value of screening significantly increased from 1.71% to 11.1% (X<sup>2</sup> test, <i>p </i><<i> </i>0.0001). LCMSMS analysis of 17OHP as a second-tier test significantly improves screening specificity for CAH due to 21-hydroxylase deficiency in New Zealand.https://www.mdpi.com/2409-515X/6/1/6congenital adrenal hyperplasia17-hydroxyprogesteronenewborn screeningliquid chromatography tandem mass spectrometry |
| spellingShingle | Mark R de Hora Natasha L Heather Tejal Patel Lauren G Bresnahan Dianne Webster Paul L Hofman Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand International Journal of Neonatal Screening congenital adrenal hyperplasia 17-hydroxyprogesterone newborn screening liquid chromatography tandem mass spectrometry |
| title | Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand |
| title_full | Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand |
| title_fullStr | Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand |
| title_full_unstemmed | Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand |
| title_short | Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand |
| title_sort | measurement of 17 hydroxyprogesterone by lcmsms improves newborn screening for cah due to 21 hydroxylase deficiency in new zealand |
| topic | congenital adrenal hyperplasia 17-hydroxyprogesterone newborn screening liquid chromatography tandem mass spectrometry |
| url | https://www.mdpi.com/2409-515X/6/1/6 |
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