Pregnancy is an exciting time, filled with joys and expectations. But, if you learn your child has a birth defect, joy is overtaken by anxiety, stress and the unknown.
Spina bifida occurs when the vertebrae don’t form well around part of the infant’s spinal cord. Myelomeningocele is due to failure of closure of the spinal neural tube and leads to malformation of the vertebral column and spinal cord, and ultimately the skull and brain. The diagnosis of Spina Bifida is made by ultrasound as early as the first trimester by failure to visualize an intact cranium (Acrania or anencephaly) or by obtaining an increased nuchal translucency measurement (the space between the baby’s soft tissue and skin in the back of the neck). The ability to diagnose or to rule out spina bifida during pregnancy is excellent with prenatal ultrasound imaging. Maternal serum markers obtained via a blood draw in the second trimester may also aid in making the diagnosis.
Any segment of the vertebral body may be involved. In approximately 80 percent of cases, the vertebral defect involves the lumbar and sacral region (including the thoracolumbar or lumbosacral area), which is the last portion of the neural tube to close.
I have given this diagnosis many times unfortunately to the wonderful parents I have encountered throughout the years. These incredible parents and their children continue to humble me every time. The frustration with making this diagnosis for parents as well as the practitioners is that many times we can not specify exactly what if any of the handicaps a child may encounter after birth. The severity of physical challenges depends on the level of spinal defect. The higher the lesion, the more likely the physical challenges. These may include but not limited to:
- Little or no feeling in their legs, feet or arms
- Bladder or bowel problems
Once the diagnosis is made, parents are referred to a genetic counselor to discuss any further genetic testing they may wish to undergo. Depending on the lesion site, parents are referred to a pediatric neurosurgeon and a fetal surgery center where the parents are counseled regarding the pros and cons of in-utero surgery (correcting the vertebral defect while mom is pregnant) or to close the defect once the parent’s precious baby is born.
The cause of spina bifida has not been identified but tied to genes and the environment. Women who are obese and/or diabetic along with those who have already had a child with spina bifida, are at greater risk.
Women can help prevent spina bifida before/during the preconception period by:
- Taking folate via supplemental vitamins and from foods rich in folic acid including fortified breakfast cereals and breads.
- Abstaining from certain medications – if you are taking medication, please consult with your doctor before getting pregnant.
- Abstaining from alcoholic beverages.
- Not going into a hot tub or sauna – during the first trimester of your pregnancy, do not use a sauna or hot tub.
There is a lot more I can discuss on this topic that is beyond the scope of these blogs but one common theme I would like to emphasize is that ALL parents want the BEST for their children and that they will do anything in providing the best care for the child/children. I am often humbled by the grace and elegance women show during these very challenging times of their pregnancy and I want to thank not only the parents but their babies for the continued lessons on humility, strength and unconditional love.
This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualifies health provider before making any health, medical or other decisions based upon the data contained herein. Information provided is for informational purposes and is not meant to substitute for the advice provided by your own physician or other medical professionals.