Spina bifida is the most common of a group of birth defects affecting the coverings of the nervous system known as 'Neural Tube Defects' (NTD). They can range from mild spina bifida (aperta) to the most severe anencephaly (absence of variable amounts of brain). Malformations of the spinal cord and brain may be acquired deformities or the result of a genetic mutation. They tend to occur early in the process of fetal formation (embryogenesis) and some are incompatible with life.
Spina bifida can be diagnosed in one of three forms:
Spina bifida occulta is the mildest form of the disease. it involves a small defect in one or more vertebra and the meninges (covering of the spinal cord) do not herniate through the bony defect. The lesion is covered by skin getting its name from hidden or occult. Evaluation by ultrasound or MRI can reveal the presence of a tethered spinal cord which may require surgical repair before it causes significant neurologic deficits.
Spina bifida with meningocele is simply a herniation of the meninges through the bony defect. The spinal cord and nerve roots do not herniate into the meningeal sac. Children with meningocele do not have associated neurologic malformations. Surgical removal of the meningeal sac allows for normal subsequent development.
Spina bifida with myelomeningocele refers to the condition in which the spinal cord and nerve roots herniate into the meningeal sac. The spinal cord is often fully exposed. Affected infants have some degree of paralysis of the legs depending on the level the myelomeningocele is located. urogenital abnormalities are usually present as a result of the involvement of the sacral nerve roots. Surgery to close the opening is the treatment of choice.
Common medical problems associated with spina bifida myelomeningocele include:
Chairi II malformation
Cerebral ventricular abnormalities
Folic acid (a type of vitamin B) can help prevent the appearance of neural tube defects (NTD). Folic acid must be ingested before a woman gets pregnant and during early pregnancy. Because a large percentage of pregnancies are unplanned, preconceptional ingestion of folic acid is not always possible. Diagnosis of a neural tube defect (NTD) early in pregnancy then becomes essential.
Screening for neural tube defects (NTD) such as spina bifida is performed with ultrasound and blood tests. Blood screening test involves the measurement of some substances in the maternal blood along with maternal age and gestational age. These tests have to be performed between 15 and 22 weeks of gestation to increase the validity of the results. Measurement of alpha fetoprotein (AFP), human chorionic gonadotropin (hCG) and unconjugated estriol (uE3) is known as 'Triple marker'; the addition of the measurement of inhibin A increased the accuracy of the results and is called "Quadruple marker'.
As with other screening tests, any abnormal results requires a confirmatory diagnostic test. Amniocentesis to measure the alpha fetoprotein levels in amniotic fluid in conjunction with a detailed ultrasound assists in the prenatal diagnosis of a neural tube defect (NTD).
If your child suffers from spina bifida and you were not given the option to undergo screening, genetic counseling and/or genetic testing, Dr. Borten and the Boston area medical malpractice attorneys at Gorovitz & Borten can help you assert your rights and get the compensation you deserve.
Contact Information For a free confidential consultation and receive a response within 24 hours (when possible), please contact us by phone, fax or e-mail with your question or concern.
Website disclaimer: The materials on this website have been prepared by Gorovitz & Borten, P.C. for informational purposes only and are not intended, and should not be construed as legal advice. This information is not intended to create and receipt of it does not constitute a lawyer-client relationship. Similarly, any submission or receipt of information using electronic "Contact Us" form does not create a lawyer-client relationship. Internet and online readers should not act upon any of the information contained on this website without seeking professional counsel. (See Terms and Conditions).