Prenatal diagnosis of ornithine transcarbamylase deficiency: optimizing pregnancy outcome in a woman with previous affected babies

Authors

  • Chandana Galidevara Department of Obstetrics and Gynecology, Mahatma Gandhi Medical College and Research Institute, Puducherry, India
  • Swaramya Chandrasekaran Department of Obstetrics and Gynaecology, Indira Gandhi Medical College and Research Institute, Puducherry, India

DOI:

https://doi.org/10.18203/2320-1770.ijrcog20180050

Keywords:

Amniocentesis, Ornithine transcarbamylase deficiency, Prenatal diagnosis, Urea cycle disorder

Abstract

Ornithine Transcarbamylase (OTC) deficiency is an inherited X-linked disorder which predominantly affects males. Females are usually carriers and may rarely be symptomatic. Affected individuals may present with severe life threatening disease immediately after birth. Those with variants of the disease may have late adult onset symptoms. We report a case of an asymptomatic female heterozygous carrier of the defect with recurrent poor obstetric outcomes and subsequent management with prenatal diagnostic testing.

References

National organisation for rare disorders – ornithine transcarbamylase deficiency. Available at https://rarediseases.org/rare-diseases/ornithine-transcarbamylase-deficiency

Genetics Home Reference. ornithine transcarbamylase deficiency. Reviewed June 2006. Available at https://ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency. Accessed ON December 13, 2016.

Lamb S, Aye CYL, Murphy E, Mackillop L. Multidisciplinary management of ornithine transcarbamylase (OTC) deficiency in pregnancy: essential to prevent hyperammonemic complications. BMJ Case Reports. 2013 Jan;2013:bcr2012007416.

Roth KS. Ornithine Transcarbamylsae deficiency. medscape. Last Update August 28, 2015. Available at http://emedicine.medscape.com/article/950672-overview Accessed on December 13, 2016.

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Published

2018-01-23

Issue

Section

Case Reports