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  2. Genetic testing - Wikipedia

    en.wikipedia.org/wiki/Genetic_testing

    Genetic testing, also known as DNA testing, ... The fluid is then tested for chromosomal abnormalities such as Down syndrome (trisomy 21) and trisomy 18, which can ...

  3. Chromosome abnormality - Wikipedia

    en.wikipedia.org/wiki/Chromosome_abnormality

    A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [ 1 ] [ 2 ] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural abnormalities, where one or ...

  4. Chorionic villus sampling - Wikipedia

    en.wikipedia.org/wiki/Chorionic_villus_sampling

    Family history of a chromosomal abnormality or other genetic disorder; Parents are known carriers for a genetic disorder; Advanced maternal age (maternal age above 35). AMA is associated with increase risk of Down's syndrome and at age 35, risk is 1:400. [citation needed] Screening tests are usually carried out first before deciding if CVS ...

  5. Preimplantation genetic diagnosis - Wikipedia

    en.wikipedia.org/wiki/Preimplantation_genetic...

    PCR is generally used to diagnose monogenic disorders and FISH is used for the detection of chromosomal abnormalities (for instance, aneuploidy screening or chromosomal translocations). Over the past few years, various advancements in PGD testing have allowed for an improvement in the comprehensiveness and accuracy of results available ...

  6. Genetic disorder - Wikipedia

    en.wikipedia.org/wiki/Genetic_disorder

    There are well over 6,000 known genetic disorders, [4] and new genetic disorders are constantly being described in medical literature. [5] More than 600 genetic disorders are treatable. [6] Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder. [7]

  7. Prenatal testing - Wikipedia

    en.wikipedia.org/wiki/Prenatal_testing

    Prenatal genetic testing can identify various chromosomal abnormalities, autosomal conditions, various birth defects, and some fetal blood disorders. Chromosomal abnormalities result from an abnormal number or structuring of chromosomes. This includes chromosomal deletions, duplications, inversions, and translocations. [38] Some examples of ...

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