Neural tube defects can usually be detected during pregnancy by testing the mother's blood (AFP screening) or a detailed fetal ultrasound. Spina bifida may be associated with other malformations as in dysmorphic syndromes, often resulting in spontaneous miscarriage. However, in the majority of cases spina bifida is an isolated malformation.
Genetic counseling and further genetic testing, such as amniocentesis, may be offered during the pregnancy as some neural tube defects are associated with genetic disorders such as trisomy 18. Ultrasound screening for spina bifida is partly responsible for the decline in new cases, because many pregnancies are terminated out of fear that a newborn might have a poor future quality of life. With modern medical care, the quality of life of patients has greatly improved.
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