![]() These tests are invasive but can determine if your child has the condition you are testing for.ĬVS takes cells from the placenta between 10 and 13 weeks gestation. If your child is at an elevated risk for certain birth defects, you might benefit from diagnostic testing during your pregnancy. ![]() Second trimester risk levels are calculated by taking into account your age and the levels of four biochemical markers being produced during the pregnancy.Ĭarrier screening helps determine if your child is at risk of cystic fibrosis, Tay-Sachs disease, sickle cell anemia - and about 80 other genetic conditions. Second Trimester Screening (AFP4) is performed between 15 and 21 weeks. Sequential Screening combines first and second trimester screens to determine risk information for Down syndrome, trisomy 18 and open fetal defects such as spina bifida.įirst Trimester Screening requires a maternal blood draw and fetal ultrasound, performed between 10 to 13 weeks gestation. This test has a high rate of detection for Down syndrome, Trisomy 18, Trisomy 13, and the sex chromosome disorders, such as Turner syndrome and Klinefelter syndrome. Types of Screenings TestsĬell Free DNA Screening is a maternal blood draw performed after 10 weeks gestation. Schedule an appointment today for more information about what you can learn from genetic testing. We offer both screening and diagnostic testing to all pregnant women. Diagnostic tests can tell whether your baby actually has a certain disorder.Screening tests are non-invasive and can determine the chances your baby has a genetic disorder.There are two different types of prenatal tests for genetic disorders: ![]() These tests can determine if there is an increased chance for your child to have conditions such as Down syndrome, cystic fibrosis and spinal muscular atrophy. Prenatal testing is available and should be offered to all women, regardless of risk. The availability and timing of these tests may vary by location. We believe that with the right information, you can make the best healthcare decisions for you and your family. We do this by providing expert interpretation of your genetic tests and answering all of your questions. This test can detect some genetic abnormalities not detected by the multiple marker test.Our genetic counselors at SSM Health are dedicated to helping you understand your family’s genetic risk factors and prenatal testing options for various fetal health concerns. When a woman has both first and second trimester screening tests done, the ability of the tests to detect an abnormality is greater than using just one screening independently. Most cases of Down syndrome can be detected when both first and second trimester screening are used.Ī test that is usually done in the first trimester may also be used called cell-free DNA. There can be false-positive results-indicating a problem when the fetus is actually healthy or false negative results-indicating a normal result when the fetus actually does have a health problem. This means it is not 100% accurate, and is only a screening test to determine who in the population should be offered more testing for their pregnancy. Multiple marker screening is not diagnostic. An amniocentesis may be needed for accurate diagnosis. Human chorionic gonadotropin hormone (a hormone made by the placenta).Ībnormal test results of AFP and other markers may mean more testing is needed. Usually an ultrasound is done to confirm the dates of the pregnancy and to look at the fetal spine and other body parts for defects. More than one fetus is making the proteinĪ miscalculated due date, as the levels vary throughout pregnancy Open neural tube defects (ONTD), such as spina bifidaĭefects in the abdominal wall of the fetus The AFP blood test is also called MSAFP (maternal serum AFP). AFP is a protein normally produced by the fetal liver and is present in the fluid surrounding the fetus (amniotic fluid), and crosses the placenta into the mother's blood. ![]() The multiple markers include:Īlpha-fetoprotein screening (AFP). This blood test measures the level of alpha-fetoprotein in the mothers' blood during pregnancy. Screening is usually done by taking a sample of the mother's blood between the 15th and 20th weeks of pregnancy (16th to 18th is ideal). Second trimester prenatal screening may include several blood tests, called multiple markers. These markers provide information about a woman's risk of having a baby with certain genetic conditions or birth defects. Second Trimester Prenatal Screening Tests
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