Ultrasound confirmation of gestational age is recommended. Please check the demographic information to ensure accuracy of calculated results. The demographic information provided at the time of testing is used in calculating the patient’s Down syndrome risk. This second trimester scan is used to identify physical and structural abnormalities including spina bifida, heart and limb defects.A High risk for Down syndrome result means there is an increased risk for the fetus to be affected with Down syndrome or other chromosome abnormality. Amniocentesis has a one in two hundred risk of causing a miscarriage. One woman in one hundred (1%) will have a miscarriage as a result of this test.Ī sample of the amniotic fluid that surrounds the baby is collected and can be used to diagnose Down syndrome or some other genetic conditions. The sample from the placenta can be tested for Down syndrome or in some cases other genetic conditions such as cystic fibrosis. In this test a small sample is taken from the placenta. Diagnostic testsĪ diagnostic test is testing the fetus’s genetic material and can therefore tell whether the fetus actually has a genetic disorder.Ĭhorionic Villus Sampling (CVS) (11 to 12 weeks) In Australia it is only available in some specialist centres. It screens for Down Syndrome and certain other chromosomal irregularities in a baby. This blood test is done after week 10 of pregnancy. If the test shows you are at an increased risk you will be offered amniocentesis and ultrasound. The test shows your risk of having a baby with Down syndrome, Trisomy 18 or neural tube defects such as spina bifida. This is a blood test collected between 15-20 weeks of pregnancy. If you are at increased risk you will be offered a diagnostic test, either a CVS (Chronic Villus Sampling) or amniocentesis. It will not tell you if your baby has Down syndrome. The test will show the risk or your chance of having a baby with Down syndrome or Trisomy 18. This test combines the results of a blood test taken at around 10-12 weeks and an ultrasound at 11-13 weeks. Some of these tests need to be done in early pregnancy, if you are a public patient you may need to organise testing them with your doctor (GP). Some hospitals have genetic counselling services who can discuss with you the implications of having testing done and what it might mean to you. Women can choose whether or not to have tests to find out their risk of having a baby with a birth defect. Diagnostic tests can tell you if the fetus has a defect.These tests will not give you definite information about your fetus. Screening tests can tell you if you are at risk of having a baby with birth defects. There are two kinds of tests that can be done in pregnancy. Screening tests are best done in the first 16 weeks of pregnancy and cannot be done after 19 weeks.
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