Handbook of Genetic Counseling/Spina Bifida

Spina Bifida

Quote Risks

 * Spina bifida is usually an isolated birth defect.

Level II Ultrasound

 * At 18-20 weeks, a high resolution, targeted ultrasound examination can be done to carefully and specifically examine the baby's spine.
 * This is noninvasive and may provide reassurance but cannot be used as a diagnostic tool.
 * If no evidence of a NTD is seen, it cannot be guaranteed that the baby does not have a NTD.

Amniocentesis

 * If the triple screen results indicate an increased risk for a NTD, one may choose to have an amniocentesis, which is a more invasive, but more diagnostic test.
 * What is it?
 * Procedure used to obtain a small sample of fluid from the fluid-filled sac that surrounds the fetus
 * Performed at 15 weeks gestation or later
 * 15-18 weeks is optimal because it leaves the patient with options
 * 22 weeks is probably the latest it can be done leaving the option of elective abortion
 * Amniotic fluid contains the fetus's urine as well as other cells from the skin, throat, and digestive tract
 * Fluid is studied in the lab for abnormalities
 * What can it tell me?
 * Amnio can detect certain abnormalities in the fetus.
 * Chromosome abnormalities
 * NTDs (Spina Bifida)
 * It can determine the sex of the baby.
 * What can it NOT tell me?
 * Amnio cannot detect all birth defects or mental retardation.
 * For example, congenital heart defects, cleft lip & palate cannot be seen.
 * Also the severity of the defect cannot be known from amnio.
 * Exactly what does the procedure involve?
 * Show figure of amniocentesis.
 * You will lie down on your back with hands behind your head.
 * Your abdomen will be cleaned with alcohol or iodine.
 * A local anesthetic may be applied to your stomach.
 * Ultrasound will be used to locate the position of the baby and the placenta and to find a safe spot for the needle.
 * A long, thin needle will be inserted through the skin, into the uterus.
 * The first few cc's of fluid will be discarded because they probably contain contamination from your cells.
 * Then a small amount (about 1-2 tablespoons) of fluid is removed and the needle is withdrawn.
 * The procedure itself usually takes ~5 minutes.
 * The baby will quickly replace the fluid that is removed.
 * The baby's heartbeat will be monitored by ultrasound.
 * Fluid will be sent to the lab and results are available in 1-2 weeks.
 * There is a small possibility of lab error or lack of cell growth
 * In this case, the procedure would have to be done again.
 * What will it feel like?
 * If an anesthetic is used, you may not feel the needle enter the skin, but you will still feel it enter the uterus.
 * This is described as a sharp pain, like a menstrual cramp that usually lasts a few seconds.
 * You may also feel some cramping after the procedure.
 * You should avoid strenuous activity for 24 hours after the procedure.
 * Call your doctor immediately if you experience abdominal pain or cramps, vaginal bleeding, leakage of clear fluid from the vagina, fever, or anything else unusual.
 * Approximately 2% of women experience light bleeding or spotting.
 * What are the risks?
 * The risk of miscarriage is between 1/400 and 1/200.
 * This means that the added risk for pregnancy loss attributable to the procedure is 0.5% or less.
 * There is a risk of uterine infection but this is less than 1 in 1,000
 * There is a remote chance that birth defects can be caused by the amnio (0.1%).
 * There are special considerations for mothers who are Rh negative. They need to take RhoGam after the amnio procedure.

Other Resources

 * Spina Bifida Association of America
 * SBAA
 * 1-800-621-3142

Review and summarize major points
www.sbhac.ca spina bifida association of Canada

Reporting of the Results

 * If they are having a procedure, discuss how they would like to receive the results
 * Appointment, phone call, etc.
 * Who will contact them?
 * Discuss the options: elective abortion, adoption, etc.