# 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** Then a small amount (about 1-2 tablespoons) of fluid is removed and the needle is withdrawn.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.