Diagnosis of spina bifida on ultrasound: Always termination?

Abstract

Open spina bifida is a non-lethal fetal anomaly. Significant advances in the prevention, diagnosis and treatment of open spina bifida have been made over the past 75 years. The most significant strategy for the prevention of open spina bifida has been with folic acid supplementation; however, further investigation into the complicated role that genetics and the environment play in metabolism are coming to light. Ultrasound is the gold standard diagnostic tool for spina bifida. Three-dimensional ultrasound and magnetic resonance imaging are also beginning to play a role in the characterisation of the open spina bifida spinal lesion. Lesion level has been closely correlated to short and long-term outcomes, and prenatal characterisation of lesion level on ultrasound is important for patient counselling. Long-term outcomes of people living with spina bifida are available and should be used for non-directive patient counselling about pregnancy choices for women with open spina bifida.