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How is open spina bifida diagnosed?

Postnatal diagnosis for open spina bifida is often as simple as visually confirming the presence of the sac on the baby's back. Prenatal diagnosis is carried out using blood tests, ultrasound, and/or amniocentesis. The blood test is carried out in the second trimester (4-6 months) of pregnancy, when spina bifida defects first become detectable, and is called the maternal serum alpha-fetoprotein (MSAFP) test. It detects unusually high amounts of a certain protein, alpha-fetoprotein (AFP), in the mother's bloodstream that could indicate a defect involving the baby's spinal cord. There are other blood tests your doctor may order to supplement the MSAFP test in addition to ultrasound and amniocentesis.
Ultrasound tests use high-energy waves to create an image on a screen for the doctor to examine, and are often ordered if the MSAFP test indicates a chance of spina bifida. Images from the ultrasound can indicate whether the MSAFP test was affected by other factors, and sometimes even spot the open spina bifida deformity itself. Amniocentesis will be ordered as a third test if the ultrasound results are otherwise normal, and works by drawing out and testing the fluid around the fetus; if it there is an open channel in its vertebrae, there will be elevated levels of AFP in the fluid as well as the mother's blood.

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