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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Detalles Bibliográficos
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
Descripción
Sumario: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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