This morning your first patient is a pregnant woman you have never met. She is 28 weeks pregnant and will be having a child with spina bifida. She is anxiously looking forward to a term delivery and has already met with a neurosurgeon. She asks if you are comfortable taking care of a child with complex health needs like this.
Some physicians say that spina bifida is the most complex disorder to manage because it involves the collaboration of a long list of subspecialists who care for a long list of conditions.1,2 Although a set of spina bifida guidelines do exist, there is still a limited source of evidence or guidance from which to base many decisions.3 Anonymous patient data, however, are being collected through the National Spina Bifida Patient Registry (NSBPR), a computerized reporting and database system developed and maintained by the Centers for Disease Control and Prevention (CDC).4 The NSBPR has been created to provide evidence to help determine a starting point for directions in current and future care and treatment.
Currently, most tertiary care centers offer a secondary care pediatric spina bifida clinic that allows a patient to see many subspecialists on a given day. This helps eliminate repeat visits to the center and encourages subspecialty collaboration with medical decisions, which in turn helps save costs and enhances quality.5
Because a tertiary care center is in many cases not the patient’s primary medical home, the patient with spina bifida often is also followed by a local primary care pediatrician (PCP). This article is intended to offer a review of care for these children by presenting the top 10 things a PCP should know about spina bifida. It will not cover other neural tube defects (NTDs) such as anencephaly or encephalocele.
First, consider the role of folic acid in young women wanting to become pregnant.
1. Tell young women to include 400 µg to 800 µg folic acid in their diet or by supplement before becoming pregnant. Stress this point especially to Hispanic women whose diets may contain more corn flour, which in the United States is still not fortified with folic acid.
In 1958, aminopterin, a folic acid antagonist, was noted to cause NTDs in animals. This encouraged scientists to consider how this B vitamin might be linked to NTDs in humans. After convincing evidence showed that maternal folic acid deficits could increase rates of NTDs, efforts in the United States were made to increase folic acid consumption in the maternal diet. Given that these deficits often occur before a woman realizes she is pregnant, this effort had limited impact on overall prevalence. In 1998, the US Food and Drug Administration (FDA) finally mandated fortification of wheat flour. Since that time, we have seen a 31% decreased rate of spina bifida from 0.5 per 1000 to 0.35 per 1000 births.6,7 These rates have not decreased to the same extent in Hispanic women who likely eat more corn flour products than wheat products. Corn flour still has not been mandated to contain folic acid, although a petition is currently at the FDA.
Women with spina bifida and their female relatives should be encouraged to take a higher dose of 4000 µg of prescription folic acid during their fertile years to decrease risk of reoccurrence. A simple way to help educate young female patients prior to a pregnancy about the importance of folic acid in their diet is to refer to the CDC webpage listing cereals containing 100% of the recommended daily allowance of folic acid (400 µg): www.cdc.gov/ncbddd/folicacid/cereals.html.