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  1. 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.

    • What Is Prenatal Genetic Testing?
    • What Types of Prenatal Screening Tests May Be available?
    • What Types of Prenatal Diagnostic Tests Are there?
    • Who Should Get Genetic Testing?

    Prenatal genetic testing gives parents information about genetic disordersor 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. Talk with your healthcare provider and decide which tests are right for you. Some people decide to get prenatal ge...

    Screening tests don’t diagnose genetic conditions, and an abnormal result doesn’t mean the fetus has a condition. It means there’s a higher risk for a genetic disorder. Your healthcare provider can help interpret results from genetic screening tests and explain the next steps. In some cases, they may recommend diagnostic testing. Some examples of p...

    Diagnostic prenatal tests can confirm if the fetus has a genetic condition. These tests take cells from the amniotic fluid or placenta and test them for specific disorders. Diagnostic testing is only performed when a screening test is abnormal or if you’re at high risk for having a baby with a genetic condition. The most common diagnostic tests are...

    The decision to get prenatal genetic testing is a personal choice. Ask your healthcare provider what they recommend if you’re unsure. The results provide important information about the health of the fetus. Healthcare providers offer all pregnant families genetic screening as part of their pregnancy care. Some of the reasons families will choose di...

  2. May 6, 2022 · This article has outlined key considerations concerning genetic counseling, genetic screening vs diagnostic genetic testing, choosing among diagnostic genetic tests, and incorporating results into clinical decision-making (Videos 1 and 2).

  3. Aug 8, 2022 · Typical tests in the first stage of pregnancy are: Cell-free fetal DNA testing: Some of your baby’s DNA winds up in your blood. After 10 weeks, your doctor takes a sample from you, and a...

  4. Jun 23, 2023 · Genetic testing is available to people who are pregnant or planning a pregnancy. Carrier screening has gained importance in family planning as it helps identify genetic conditions that can be passed on to children. Based on your family history, or pedigree, a genetic counselor can advise you on:

  5. Carrier screening is a type of genetic test that can tell you whether you carry a gene for certain genetic disorders. When it is done before or during pregnancy, it allows you to find out your chances of having a child with a genetic disorder.

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  7. If a male fetus inherits a dominant X-linked gene, the pregnancy typically ends in miscarriage. However, girls must inherit two abnormal genes to develop an X-linked disorder if the gene is recessive. If the abnormal gene is dominant, only one abnormal gene is required for the disorder to develop.

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