Diagnosis of spina bifida

How is spina bifida diagnosed?

Open spina bifida, is usually detected at the antenatal mid-term ultrasound (20 week) scan. The appearance of the skull bones and cerebellum - part of the back of the brain - show distinct signs that lead the sonographer to look for tiny changes in the spine. For example, the bones to the sides of the head can look pinched, and the cerebellum looks long, thin and wrapped around the spinal cord, instead of being round (Chiari II).

Closed spinal lesions such as lipomyelomeningocele are often not detected at the antenatal mid-term ultrasound scan: the brain and skull will usually look normal so the changes to the spine may not be detected. Often people only become aware that they have it after having a back x-ray for an unrelated problem.

Genetic Counselling

Prospective parents who have had a baby with a neural tube defect, or who have a close relative with a neural tube defect, should be referred to a genetic counsellor for advice. This referral can be made through a GP.