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Positive for Spina Bifida

 

 

 

My test has come back positive for Spina Bifida

Does an abnormal (or “positive”) test result mean the baby has spina bifida?

NO!  For example, a result of 1 in 100 chance of spina bifida means that 99 out of 100 times the baby does NOT have spina bifida.  Most women with abnormal results will have healthy babies.  Multiple marker screening tests cannot diagnose a birth defect.  Abnormal test results mean only that the chance of spina bifida is higher and that parents should be offered further tests to try to find the cause of the abnormal blood chemical levels.  In most cases, an abnormal test result does not turn out to be because of a problem with the baby, and further testing can confirm that. 

What else could an abnormal result mean?

  1. Pregnancy is further along than suspected (for example, 5 months along instead of 4 months).

  2. Twins or other multiples.

  3. Normal variation.  Some babies make more AFP than others, but they are healthy.

  4. Damage to the placenta, allowing more AFP to cross into the mother’s blood. 

  5. The baby is dying or dead.

  6. Certain uncommon birth defects of the abdomen, kidney, or bowel.

What happens now?

If the test results are only slightly abnormal, some doctors will repeat the multiple marker screening test.  If the levels are still abnormal, a basic ultrasound will confirm the dating of the pregnancy and identify twins or a fetal demise.  If the ultrasound shows twins or changes dates significantly (by two weeks or more), the multiple marker screening test will be reinterpreted.  In some cases, the reinterpretation shows that there is no longer a higher chance for spina bifida.  In some cases, the ultrasound reveals that the blood test was done too late (usually after 21 weeks). 

 Most women who have an abnormal multiple marker screening test result are referred to a specialized center, such as Eastside Maternal-Fetal Medicine, for further evaluation.  The first part of the visit is spent with a genetic counselor, who spends as much time as needed answering any questions parents have.  The genetic counselor will review the abnormal test results and discuss the follow-up tests available to the parents.  A family and pregnancy history is taken as well, to identify other, unrelated, risks to the baby.  A high-resolution ultrasound may identify obvious birth defects such as neural tube or abdominal wall defects.  If no cause of the high AFP can be found, parents have the option of having an amniocentesis.

Where can I get more information?

Your primary pregnancy healthcare provider may be able to give you more information.  You may want to make an appointment with a genetic counselor to get additional details or help with decision-making.  If you live in the Seattle/King County area, and you would like to talk more about these tests and making a decision please call us at (425) 688-8111 ( Bellevue ) or (425) 899-2200 ( Kirkland ) to schedule an appointment.

 

 

 

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Last modified: April 16, 2009