Cargando…
Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot
Neonatal screening for congenital adrenal hyperplasia (CAH) faces many specific challenges. It must be done using a performant analytical approach that combines sensitivity and specificity to capture the potential causes of mortality during the first week of life, such as salt wasting and glucocorti...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254290/ https://www.ncbi.nlm.nih.gov/pubmed/35521805 http://dx.doi.org/10.1530/EC-22-0101 |
_version_ | 1784740664262524928 |
---|---|
author | Houang, Muriel Nguyen-Khoa, Thao Eguether, Thibaut Ribault, Bettina Brabant, Séverine Polak, Michel Netchine, Irène Lamazière, Antonin |
author_facet | Houang, Muriel Nguyen-Khoa, Thao Eguether, Thibaut Ribault, Bettina Brabant, Séverine Polak, Michel Netchine, Irène Lamazière, Antonin |
author_sort | Houang, Muriel |
collection | PubMed |
description | Neonatal screening for congenital adrenal hyperplasia (CAH) faces many specific challenges. It must be done using a performant analytical approach that combines sensitivity and specificity to capture the potential causes of mortality during the first week of life, such as salt wasting and glucocorticoid deficiency. Here, we confirm that maternal inhaled corticosteroid intake during pregnancy is a possible cause of missed CAH diagnosis. Thanks to liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) analysis, we were able to quantify endogenous steroid metabolites and also detect the presence of exogenous steroids in the dried blood spot of a newborn. Adding LC-MS/MS analysis as second-tier test, especially one that includes both 17-hydroxyprogesterone and 21-deoxycortisol measurements, would probably improve CAH diagnosis. In familial neonatal screening one could also look for maternal corticosteroid therapies that are hidden to prevent false-negative tests. |
format | Online Article Text |
id | pubmed-9254290 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Bioscientifica Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-92542902022-07-05 Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot Houang, Muriel Nguyen-Khoa, Thao Eguether, Thibaut Ribault, Bettina Brabant, Séverine Polak, Michel Netchine, Irène Lamazière, Antonin Endocr Connect Research Neonatal screening for congenital adrenal hyperplasia (CAH) faces many specific challenges. It must be done using a performant analytical approach that combines sensitivity and specificity to capture the potential causes of mortality during the first week of life, such as salt wasting and glucocorticoid deficiency. Here, we confirm that maternal inhaled corticosteroid intake during pregnancy is a possible cause of missed CAH diagnosis. Thanks to liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) analysis, we were able to quantify endogenous steroid metabolites and also detect the presence of exogenous steroids in the dried blood spot of a newborn. Adding LC-MS/MS analysis as second-tier test, especially one that includes both 17-hydroxyprogesterone and 21-deoxycortisol measurements, would probably improve CAH diagnosis. In familial neonatal screening one could also look for maternal corticosteroid therapies that are hidden to prevent false-negative tests. Bioscientifica Ltd 2022-04-29 /pmc/articles/PMC9254290/ /pubmed/35521805 http://dx.doi.org/10.1530/EC-22-0101 Text en © The authors https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. (https://creativecommons.org/licenses/by-nc-nd/4.0/) |
spellingShingle | Research Houang, Muriel Nguyen-Khoa, Thao Eguether, Thibaut Ribault, Bettina Brabant, Séverine Polak, Michel Netchine, Irène Lamazière, Antonin Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot |
title | Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot |
title_full | Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot |
title_fullStr | Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot |
title_full_unstemmed | Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot |
title_short | Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot |
title_sort | analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9254290/ https://www.ncbi.nlm.nih.gov/pubmed/35521805 http://dx.doi.org/10.1530/EC-22-0101 |
work_keys_str_mv | AT houangmuriel analysisofapitfallincongenitaladrenalhyperplasianewbornscreeningevidenceofmaternaluseofcorticoidsdetectedondriedbloodspot AT nguyenkhoathao analysisofapitfallincongenitaladrenalhyperplasianewbornscreeningevidenceofmaternaluseofcorticoidsdetectedondriedbloodspot AT eguetherthibaut analysisofapitfallincongenitaladrenalhyperplasianewbornscreeningevidenceofmaternaluseofcorticoidsdetectedondriedbloodspot AT ribaultbettina analysisofapitfallincongenitaladrenalhyperplasianewbornscreeningevidenceofmaternaluseofcorticoidsdetectedondriedbloodspot AT brabantseverine analysisofapitfallincongenitaladrenalhyperplasianewbornscreeningevidenceofmaternaluseofcorticoidsdetectedondriedbloodspot AT polakmichel analysisofapitfallincongenitaladrenalhyperplasianewbornscreeningevidenceofmaternaluseofcorticoidsdetectedondriedbloodspot AT netchineirene analysisofapitfallincongenitaladrenalhyperplasianewbornscreeningevidenceofmaternaluseofcorticoidsdetectedondriedbloodspot AT lamaziereantonin analysisofapitfallincongenitaladrenalhyperplasianewbornscreeningevidenceofmaternaluseofcorticoidsdetectedondriedbloodspot |