A healthy neonate born at the third pregnancy of a woman with ornithine carbamoyltransferase deficiency under multidisciplinary management

Abstract

We reported a women with ornithine carbamoyltransferase deficiency who delivered a healthy boy after two pregnancies with adverse outcome with the help of a multidiscipline team. The woman was admitted to Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine with an acute prenatal hyperammonemic episode at 28 gestational weeks of her first pregnancy in 2013 and was diagnosed with ornithine transcarbamylase deficiency. Her hyperammonemic complications were controlled under a well-planned multidisciplinary management including a low-protein diet and appropriate medications assisting nitrogen removal. A boy was delivered by cesarean section at 32 weeks of gestation but died three days later. Mutation analysis revealed a hemizygous c.583G>A (G195R) mutation in the neonatal ornithine carbamyltransferase gene and his mother was a heterozygous carrier with the same mutation. Two years later in 2015, the patient was pregnant spontaneously. However, she received an induced abortion at 21 weeks of gestation because amniocentesis and DNA analysis showed that the male fetus had the same ornithine transcarbamylase gene mutation. The index pregnancy was assisted by in vitro fertilization-embryo transfer and preimplantation genetic diagnosis in 2017 and the woman delivered a healthy boy with the management of a multidisciplinary team. Key words: Ornithine carbamoyltransferase deficiency disease; Gravidity; Peripartum period; Patient care management