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Severe cases of myelodysplasia are apparent to the naked eye at birth. Sometimes a fluid-filled sac is visible on the back covered with a thin layer of skin, sometimes spinal cord tissue is fully exposed. Several signs point to the presence of the occult form. Surface signs include an unusually hairy patch of skin, a fatty mass or a dimple along the spinal column. Unusual weakness or lack of coordination in lower limbs also suggests myelodysplasia.
Prenatal Ultrasound imaging can confirm or rule out the diagnosis. During pregnancy, unusually high levels of a protein called alpha fetoprotein circulating in the mother's blood suggest spina bifida, although the test is not conclusive; twins or an inaccurate date of conception can also lead to increased levels of the protein.
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