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

Gabriella Pinho, Gabriela Ross, Kaila Krishnamoorthy, Christina Kresge, Ling Yu Shih, Joseph J. Apuzzio, Shauna F. Williams

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

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.

Original languageEnglish (US)
Article numbere00390
JournalCase Reports in Women's Health
Volume34
DOIs
StatePublished - Apr 2022

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology

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