Outcome of Fetal Spina Bifida

Neural tube defects are one of the most prevalent congenital abnormalities, surpassed only by cardiac malformations. Spina bifida accounts for the majority of the neural tube defects and is comprised of a wide spectrum of anomalies ranging from small isolated sacral dysraphisms to large spinal defects. The origin of spina bifida is a failure of neurulation. It usually occurs at 15 days post-conception, resulting in a bony spinal defect with extrusion of the neural placode and/or the meninges outside of the spinal canal. Spina bifida has a prevalence of 1-5 in 1,000 live births and is the most complex congenital abnormality compatible to long-time survival. Concerning psychomotor development as well as urinary bladder and intestinal morbidity the prognosis ranges from normal functional outcome to severe disability.

The diagnosis of serious fetal abnormalities such as spinal dysraphism by ultrasound screening allows patients to prepare for the birth of an impaired child or to consider termination of the pregnancy. In current practice, prenatal counseling and obstetric management depend not only on the detection of a spinal dysraphism but also on an appropriate assessment of the severity of the defect and its possible impact on the postnatal development of the affected child.

Level and type of lesion, presence of associated anomalies (e.g., Chiari II malformation and ventriculomegaly) and mode of surgical closure are factors known to have prognostic impact on the postnatal outcome. Previous studies reported that postnatally determined lesion levels correlated well with functional status and survival. On the contrary, it is still not clear whether similar data obtained antenatally are of value.

In this study, the investigators will review their database of all cases of prenatally diagnosed spina bifida within a 16 year period between 1993 and 2009. By analyzing the prenatal and postnatal characteristics of fetuses with spina bifida in relation to the anatomic level of the lesion, the investigators aim to contribute further information regarding the natural course of affected pregnancies and the correlation of prenatal ultrasound findings with their functional outcome.