Abstract
Spina bifida is a neural tube defect that occurs in about 1 in 1,500 pregnancies. Open spinal defects are associated with paralysis, incontinence and hydrocephalus requiring postnatal shunting of the cerebrospinal fluid. Neural tube defects are preventable through preconceptional folic acid supplementation. Occasionally, the diagnosis is made during routine anomaly scan at 18-20 weeks of gestation, as the earliest signs of the anomaly can be seen at the end of first trimester. The information provided by ultrasound plays a crucial role in patient counseling and pregnancy management. The authors report a case of prenatal diagnosis of spina bifida aperta with focus on detailed ultrasound presentation and difficulties in consulting in relation to the prognosis for the newborns.
Highlights
Spina bifida is the most frequent non lethal birth defect of the central nervous system with an incidence of 0.5 to 2 per 10 000 established pregnancies, including live births, pregnancy losses, and abortions [1]
Spina bifida is commonly subdivided into two main types – spina bifida aperta, and spina bifida occulta
Around 17% of cases are presented with spina bifida occulta with better prognosis for the developing fetus, due to lack of central nervous system involvement [8,9]
Summary
Spina bifida is the most frequent non lethal birth defect of the central nervous system with an incidence of 0.5 to 2 per 10 000 established pregnancies, including live births, pregnancy losses, and abortions [1]. An occurrence frequency of the disease is 1 case per 1,000 births [3,4] and each year nearly 300,000 infants with Neural Tube Defects (NTDs) are born, further resulting in death or lifelong disabilities [1,5]. Around 17% of cases are presented with spina bifida occulta with better prognosis for the developing fetus, due to lack of central nervous system involvement [8,9].
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