Being pregnant is a very unique experience for a woman. She can feel a little person growing inside her. Questions fly through her mind. What will the baby look like? Is it a boy or a girl? Will the baby be healthy? Fortunately to answer the last question there are tests available that pose no risk to mother or child.
A maternal blood test is available that screens for several different genetic defects called the quadruple screen. The test looks for levels of specific proteins in the mother’s blood that indicate the possible presence of conditions such as Down syndrome and Spina Bifida. It’s important to note that there is a difference between a screening test and a diagnostic test. A diagnostic test is usually much more extensive and looks for one specific condition. A positive result means the defect in question is present. A screening test is typically much less complicated and only assesses the risk of a condition.
False positives or negatives are more common on screening tests than diagnostic ones. If a screening test indicates a positive result, the doctor and mother must then weigh the risks of having the diagnostic test against the risk of the condition being screened. With some screening results the risk to the fetus of further testing is greater than the risk of having the actual disability.
Doctors use several factors to assess the risks. Blood test results are compared with the median, meaning the protein level for an average pregnancy. The mother’s age is also taken into consideration. Down syndrome becomes exponentially more common as the mother ages.
Another important factor to consider is when the blood test is taken. Different conditions should be tested for at different times. A test that is administered to early or too late may return false results. Once a positive result has returned, more precise predictive and/or diagnostic tests can be performed.
Ultrasound is a predictive test that allows the doctor to use sound waves to create a picture of the baby. This test allows the doctor to visualize possible defects, and carries virtually no risk to mother or fetus.
The amniocentesis test carries more risk but gives more definitive results. A large needle is used to draw amniotic fluid from the mother’s abdomen. The chromosomes of the fetal cells are then examined to determine if Down syndrome is present.
If it is determined that the fetus is likely to have Down syndrome, there is support available. The Connecticut Down Syndrome Congress is a parent run organization that not only has a wealth of information and resources for raising a child with Down, but also hosts events, support groups, and workshops to support the parents.
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