The goals with testing for NTDs are to detect and diagnose the disorders in the fetus, and/or in the newborn, and to evaluate severity and complications. Very mild cases of NTDs may never be detected or may be detected later in life when testing is performed for other reasons.
Laboratory tests may include:
- Maternal screening - this group of tests is performed on the mother during her 2nd trimester and includes an AFP (alpha-fetoprotein) test. Increased levels of AFP have been associated with an increased risk of an open NTD.
- AFP and acetylcholinesterase in amniotic fluid. If the serum AFP is elevated, AFP and acetylcholinesterase can be measured in amniotic fluid, as confirmatory tests. A fetal karyotype test may also be done on the fluid to rule out chromosomal abnormalities. These tests are followed by or performed with a fetal ultrasound.
- A variety of laboratory and non-laboratory tests may be performed by a urologist after birth to help evaluate kidney and bladder function.
- Fetal ultrasound – to help diagnose NTDs prior to birth.
- X-ray, MRI (magnetic resonance imaging), and/or CT scan (computed tomography) – of spine and vertebrae after birth to look for defects and deformities.
- X-ray or CT scans of the head to detect excess fluid when hydrocephalus is suspected.
- Regular clinical examinations – to detect and address complications as they arise.