What you Need to Know About NIPT Genetic Testing Finding out you are pregnant can truly be one of the most exciting times in a woman’s life. However, that excitement can me overshadowed by the many “what-ifs” that will undoubtedly fill your mind. Fortunately, during your pregnancy you will go through a few prenatal tests to help ease your mind and provide you with information about the health of you baby. Some of these tests can even help detect genetic diseases or disorders that could affect your baby’s health. Some of these tests, like Ultrasounds and Non-Invasive Prenatal (NIPT) Genetic Testing, are routine and will be recommended for all pregnant women, but others, like Chorionic villus sampling (CVS), will only be suggested in certain circumstances to check for any gene defects or variations. Be sure to go over any test results with your doctor, just because you tested positive for something it doesn’t necessarily mean your baby will be born with a genetic problem.
Routine Tests Health Checks - To make sure you are healthy throughout your pregnancy; your doctor will screen your blood and urine for certain conditions. Some of these include HIV or other STDs, anemia and preeclampsia. Other tests may include glucose screening to see if you have developed gestational diabetes or a Quad screen that measure hormones and protein levels.
Ultrasound – Besides confirming your pregnancy and how far along you are, an ultrasound use waves to take pictures of the baby, as well as the mother’s organs. In addition, ultrasounds, which are normally performed twice throughout a pregnancy, can also detect potential problems. If something is discovered during an ultrasound, further testing, like the NIPT Genetic test, may be recommended.
NIPT Genetic Testing – This test, which can be performed as early as 9 weeks into your pregnancy, are not necessary for every situation but your doctor may suggest it under circumstances. If you are at a higher risk of having a baby with a genetic problem – if you already have a child with a genetic disorder, if you are older than 35 or have a genetic disease that runs in your family - you should get an NIPT test. With just a blood test, you can the answers you need when expecting.
Nonroutine Tests Amniocentesis – Usually performed at 155 to 22 weeks of pregnancy, an amniocentesis is performed by extracting and testing the amniotic fluid to check for a genetic disorder. Make sure you do your research and discuss the importance of the test with your doctor because it does carry some rick for miscarriage. Studies find that about 1 in every 300-500 women will suffer a miscarriage due to an amniocentesis.
Chorionic villus sampling (CVS) – If something was found during your routines tests, like during the NIPT genetic test, your doctor may suggest a test like the Chorionic villus sampling (CVS). This test is completed by doctors extracting a small piece of your placenta to test for genetic variants or conditions. While the test will definitively tell you if a defect or disorder is found, there is also a risk of miscarriage.