Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations

BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is a rare disorder of the urea cycle that obstetricians should be aware of in order to guide management for pregnant carriers of the X-linked gene that causes the condition. CASES: We present the pregnancy management and outcomes of two women...

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Autores principales: Pinho, Gabriella, Ross, Gabriela, Krishnamoorthy, Kaila, Kresge, Christina, Shih, Ling Yu, Apuzzio, Joseph J., Williams, Shauna F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9117120/
https://www.ncbi.nlm.nih.gov/pubmed/35601507
http://dx.doi.org/10.1016/j.crwh.2022.e00390
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author Pinho, Gabriella
Ross, Gabriela
Krishnamoorthy, Kaila
Kresge, Christina
Shih, Ling Yu
Apuzzio, Joseph J.
Williams, Shauna F.
author_facet Pinho, Gabriella
Ross, Gabriela
Krishnamoorthy, Kaila
Kresge, Christina
Shih, Ling Yu
Apuzzio, Joseph J.
Williams, Shauna F.
author_sort Pinho, Gabriella
collection PubMed
description BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is a rare disorder of the urea cycle that obstetricians should be aware of in order to guide management for pregnant carriers of the X-linked gene that causes the condition. CASES: We present the pregnancy management and outcomes of two women with OTCD. The particular manifestations of the disease drive antenatal, intrapartum and postpartum management. CONCLUSION: Preconception counseling, early prenatal diagnostics and multidisciplinary intrapartum and postpartum management plans contribute to improved outcomes for patients.
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spelling pubmed-91171202022-05-20 Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations Pinho, Gabriella Ross, Gabriela Krishnamoorthy, Kaila Kresge, Christina Shih, Ling Yu Apuzzio, Joseph J. Williams, Shauna F. Case Rep Womens Health Article BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is a rare disorder of the urea cycle that obstetricians should be aware of in order to guide management for pregnant carriers of the X-linked gene that causes the condition. CASES: We present the pregnancy management and outcomes of two women with OTCD. The particular manifestations of the disease drive antenatal, intrapartum and postpartum management. CONCLUSION: Preconception counseling, early prenatal diagnostics and multidisciplinary intrapartum and postpartum management plans contribute to improved outcomes for patients. Elsevier 2022-01-30 /pmc/articles/PMC9117120/ /pubmed/35601507 http://dx.doi.org/10.1016/j.crwh.2022.e00390 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 Article
Pinho, Gabriella
Ross, Gabriela
Krishnamoorthy, Kaila
Kresge, Christina
Shih, Ling Yu
Apuzzio, Joseph J.
Williams, Shauna F.
Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations
title Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations
title_full Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations
title_fullStr Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations
title_full_unstemmed Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations
title_short Ornithine transcarbamylase deficiency and pregnancy: A case series and review of recommendations
title_sort ornithine transcarbamylase deficiency and pregnancy: a case series and review of recommendations
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9117120/
https://www.ncbi.nlm.nih.gov/pubmed/35601507
http://dx.doi.org/10.1016/j.crwh.2022.e00390
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