A part of your early prenatal care at Moscow Pullman OB/GYN, you will be offered prenatal genetic testing. Prenatal genetic testing refers to tests that are done during pregnancy to either screen for or diagnose a birth defect. The goal of prenatal genetic testing is to provide expectant parents with information to make informed choices and decisions. Genetic testing can also assist our providers in providing care and management of your pregnancy. It is important to remember that all genetic testing is optional.
There are two types of prenatal genetic tests: screening tests and diagnostic tests.
SCREENING TESTS do NOT diagnose a birth defect, they only determine if a baby is at high or low risk for a specific condition.
DIAGNOSTIC TESTS can diagnose certain fetal conditions with a high degree of accuracy.
During your pregnancy, you have the option of the following screening tests:
First trimester screening (nuchal translucency): This is a combination of a blood test and an ultrasound examination to help identify babies who may have Down Syndrome, Trisomy 18, or Trisomy 13. This test is performed at our office. If this screening test is abnormal, we will discuss further diagnostic testing that can be done.
Second Trimester quadruple screen: This is a blood test to help identify babies who may have Down Syndrome or Trisomy 18, as well as screening for some neural tube defects, such as spina bifida. If this screening test is abnormal, we will discuss further diagnostic testing that can be done.
Cell-free fetal DNA: This is a blood test used to identify babies who may have Down Syndrome, Trisomy 18, or Trisomy 13. This is most commonly used as a screening test in women who are considered higher risk based on age, family history, or other factors. However, any woman may choose to have this screen. We use Natera’s Panorama and Horizon prenatal test. Click Here for information on Panorama. Click Here of Information on Horizon. Click Here to see pricing and payment options
Cystic Fibrosis Carrier Screen: This blood test is used to tell women and men if they are carriers for Cystic Fibrosis, a recessive genetic condition. More on Cystic Fibrosis
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During your pregnancy, you have the option of the following diagnostic tests:
Chorionic Villus Sampling (CVS): This test involves a perinatologist obtaining a sample of the tissue surrounding the sac where the fetus develops. A sample of the cells from this tissue provides chromosomes and other material that may then be tested to diagnose chromosomal abnormalities, genetic birth defects, and other conditions. There is a small but real risk to the pregnancy from this procedure.
Amniocentesis: During this test, a perinatologist will use a thin needle to remove a small amount of amniotic fluid. The cells from this fluid will be tested for chromosomal abnormalities, genetic birth defects and other conditions. There is a small but real risk to the pregnancy from this procedure.
More on Genetic Diagnostic Tests
Based on your insurance, the cost of these prenatal genetic tests may be quite high, and you are responsible for checking benefits with your insurance before having it done.