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Know Your Options for Genetic Testing During Pregnancy

Amniocentesis, Genetic Diseases

When you are pregnant, there are so many things to think about. Preparing for the baby to come and the birth are so overwhelming, that the pregnancy can often be overlooked. During your prenatal care, the doctor will ask you a host of questions, and offer you a wide range of tests. By knowing the facts of all the tests, you can be better prepared and be an awesome patient. In this article I will cover the most commonly offered tests that can detect genetic discrepancies during your pregnancy. After reading all the facts, you can understand what your doctor is offering and if the test is the right choice for you.

The first test offered to the majority of pregnant women is the Maternal Serum Screening. This is a simple blood test that is generally completed during the 4th month of pregnancy. The lab technician will draw your blood and send it to the lab to be tested. The lab will test the blood to see if your baby has an increased chance to have Down syndrome or Spina Bifada. This test is optional, and the results can never be 100% accurate. If the results come back with a high chance of your baby having one of the two diseases, more tests will need to be completed to know for sure if your baby is affected. This test does have a high chance of being inaccurate, so it is generally only done as a first glance to your baby’s well-being.

The next genetic test you can have done during your pregnancy is an amniocentesis. These are only done if there is a probable chance of a genetic problem with your baby. During an amniocentesis a large needle is inserted into your abdomen to enter the amniotic sac surrounding the baby and capture some of the amniotic fluid. This fluid contains your baby’s chromosomes which can reveal many different genetic traits. This test does carry a slight chance of miscarriage or harm to the baby, so it is only constructed if absolutely necessary. The chromosome sampling however, has no chance of error, so the results are 100% accurate, or as accurate as the technician reading the results can possibly be. An amniocentesis is usually completed at about 14-18 weeks of the pregnancy.

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Another genetic test completed during pregnancy is the Chronic Villus Sampling. This is a very rare test, and is only completed at special genetic testing centers. During this test a small piece of the placenta tissue is removed to read the baby’s chromosomes. This test is usually completed during the 9th and 13th week of pregnancy and only when absolutely necessary. This test is only completed when there is a very high chance of a genetic problem with your baby, and never done routinely.

The last test that can be done to determine a genetic deficiency is the Cystic Fibrosis Testing. This test is done through simple blood work, or even a saliva sampling. The only way a child can have Cystic Fibrosis is if both parents carry the gene, so both parent’s must be tested for 100% accuracy. This test is usually only completed if there is a family history of Cystic Fibrosis.

During pregnancy there are many worries on your mind. If you are worried about any genetic diseases that may run in your family, you can complete one of the above tests to ease your mind. While these tests are fairly accurate, you can never know for sure until the baby arrives. By preparing yourself and gaining proper knowledge about any genetic diseases, you can focus on the baby at the birth and feel that you are properly prepared for the road that lies ahead of you!