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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Main Authors: Gabriella Pinho (Author), Gabriela Ross (Author), Kaila Krishnamoorthy (Author), Christina Kresge (Author), Ling Yu Shih (Author), Joseph J. Apuzzio (Author), Shauna F. Williams (Author)
Format: Book
Published: Elsevier, 2022-04-01T00:00:00Z.
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Summary: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.
Item Description:2214-9112
10.1016/j.crwh.2022.e00390