A healthy neonate born at the third pregnancy of a woman with ornithine carbamoyltransferase deficiency under multidisciplinary management / 中华围产医学杂志

We reported a women with omithine 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 omithine 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 omithine 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 ofa multidisciplinary team.

Progress in prenatal examinations for diagnosis and prognostic evaluation of congenital diaphragmatic hernia / 中华围产医学杂志

Congenital diaphragmatic hernia (CDH) is caused by unilateral or bilateral diaphragmatic hypoplasia allowing abdominal organs to move into the thoracic,resulting in a series of pathophysiological changes,high mortality and poor prognosis.Therefore,earlier diagnosis is conducive to prenatal intervention and postnatal treatment.At present,prenatal ultrasonography is the most common used examination for CDH due to its convenience and low cost.MRI is complementary to ultrasound examination as it can evaluate both pulmonary development and maturity.Fetal echocardiography is a newly developed method in recent years which helps to indicate the prognosis through observation of hemodynamics and pulmonary vessels development.