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What is prenatal genetic testing? Prenatal genetic testing gives parents information about genetic disorders or birth abnormalities the fetus may have. Unlike some of the routine prenatal tests like blood type, blood count or glucose screening, these tests are optional.
Prenatal genetic screening tests of the pregnant woman’s blood and findings from ultrasound exams can screen the fetus for aneuploidy; defects of the brain and spine called neural tube defects (NTDs); and some defects of the abdomen, heart, and facial features. This FAQ focuses on these tests.
Timing: 15 weeks and greater. Tests fetal cells in a sample of amniotic fluid. Detects Down syndrome, trisomy 13, trisomy 18, inherited disorders for which you request testing, and certain types of NTDs. Abbreviations: CVS, chorionic villus sampling; NT, nuchal translucency; NTD, neural tube defect.
Prenatal screening tests can find out whether your baby is more or less likely to have certain genetic conditions. Most often, these screening tests are offered during the first or second trimester of pregnancy.
Prenatal genetic screening is used to assess whether there is an increased risk of the fetus being affected by a genetic disorder. Originally, prenatal genetic testing primarily focused on trisomy 21 (Down syndrome), but now it can detect a broad range of genetic disorders. [2]
If you’re pregnant or thinking of getting pregnant, genetic testing can give you a closer look into your health and your baby’s health. Some tests can check babies for medical conditions...
Prenatal testing for genetic disorders and birth defects involves testing a pregnant woman or fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic disorders.
Prenatal testing. If you're pregnant, tests can detect some types of abnormalities in your baby's genes. Down syndrome and trisomy 18 syndrome are two genetic disorders that are often screened for as part of prenatal genetic testing. Traditionally this is done looking at markers in blood or by invasive testing such as amniocentesis.
There are two general types of prenatal tests for genetic disorders: Prenatal screening tests: These tests can tell you the chances that your fetus has an aneuploidy and a few additional disorders. Read Prenatal Genetic Screening Tests to learn about these tests.
The NIPT test is a highly reliable prenatal screening tool that assesses the risk of chromosomal disorders in a fetus. This test can also provide information about the sex of the fetus. NIPT testing doesn’t diagnose conditions — it only suggests a fetus is more likely to have a particular condition.