Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling

In Michigan (MI), NBS for CF was started in October 2007 using the IRT/DNA protocol. In 2016, a component of the Hologic molecular test kit used by the MI NBS lab was recalled (40 CF mutation 2nd tier test). This recall had a major impact on states using the Hologic test kits in their NBS programs....

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Detalles Bibliográficos
Autores principales: Qussous, Khaleel, Abdulhamid, Ibrahim, Kleyn, Mary, Schuen, John, Nasr, Samya Z.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8760430/
https://www.ncbi.nlm.nih.gov/pubmed/35059286
http://dx.doi.org/10.1016/j.rmcr.2021.101572
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author Qussous, Khaleel
Abdulhamid, Ibrahim
Kleyn, Mary
Schuen, John
Nasr, Samya Z.
author_facet Qussous, Khaleel
Abdulhamid, Ibrahim
Kleyn, Mary
Schuen, John
Nasr, Samya Z.
author_sort Qussous, Khaleel
collection PubMed
description In Michigan (MI), NBS for CF was started in October 2007 using the IRT/DNA protocol. In 2016, a component of the Hologic molecular test kit used by the MI NBS lab was recalled (40 CF mutation 2nd tier test). This recall had a major impact on states using the Hologic test kits in their NBS programs. Michigan specimens were sent to another state's NBS Lab for 2nd tier testing using the Luminex 60 mutation test kit until the Luminex kit could be procured and validated in MI. In this report, we present five cases born during this time period. These cases were initially reported out as having normal NBS results for CF but had heterozygous F508 del (c.1521_1523delCTT) mutations later identified. Of the five cases, one was diagnosed with CF (Case1), one with CF related metabolic syndrome (CRMS), and the other three were carriers.
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spelling pubmed-87604302022-01-19 Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling Qussous, Khaleel Abdulhamid, Ibrahim Kleyn, Mary Schuen, John Nasr, Samya Z. Respir Med Case Rep Case Report In Michigan (MI), NBS for CF was started in October 2007 using the IRT/DNA protocol. In 2016, a component of the Hologic molecular test kit used by the MI NBS lab was recalled (40 CF mutation 2nd tier test). This recall had a major impact on states using the Hologic test kits in their NBS programs. Michigan specimens were sent to another state's NBS Lab for 2nd tier testing using the Luminex 60 mutation test kit until the Luminex kit could be procured and validated in MI. In this report, we present five cases born during this time period. These cases were initially reported out as having normal NBS results for CF but had heterozygous F508 del (c.1521_1523delCTT) mutations later identified. Of the five cases, one was diagnosed with CF (Case1), one with CF related metabolic syndrome (CRMS), and the other three were carriers. Elsevier 2022-01-01 /pmc/articles/PMC8760430/ /pubmed/35059286 http://dx.doi.org/10.1016/j.rmcr.2021.101572 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Qussous, Khaleel
Abdulhamid, Ibrahim
Kleyn, Mary
Schuen, John
Nasr, Samya Z.
Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling
title Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling
title_full Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling
title_fullStr Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling
title_full_unstemmed Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling
title_short Five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling
title_sort five cases of missed cystic fibrosis heterozygous mutations identified after a positive newborn screen on a sibling
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8760430/
https://www.ncbi.nlm.nih.gov/pubmed/35059286
http://dx.doi.org/10.1016/j.rmcr.2021.101572
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