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  2. Triple test - Wikipedia

    en.wikipedia.org/wiki/Triple_test

    The triple test, also called triple screen, the Kettering test or the Bart's test, is an investigation performed during pregnancy in the second trimester to classify a patient as either high-risk or low-risk for chromosomal abnormalities (and neural tube defects). The term "multiple-marker screening test" is sometimes used instead.

  3. Chorionic villus sampling - Wikipedia

    en.wikipedia.org/wiki/Chorionic_villus_sampling

    It entails sampling of the chorionic villus (placental tissue) and testing it for chromosomal abnormalities, usually with FISH or PCR. CVS usually takes place at 10–12 weeks' gestation, earlier than amniocentesis or percutaneous umbilical cord blood sampling. It is the preferred technique before 15 weeks. [2]

  4. Nuchal scan - Wikipedia

    en.wikipedia.org/wiki/Nuchal_scan

    As nuchal translucency size increases, the chances of a chromosomal abnormality and mortality increase; 65% of the largest translucencies (>6.5mm) are due to chromosomal abnormality, while fatality is 19% at this size. [2] A nuchal scan may also help confirm both the accuracy of the pregnancy dates and the fetal viability.

  5. Prenatal testing - Wikipedia

    en.wikipedia.org/wiki/Prenatal_testing

    CVS is an invasive diagnostic test that can be done during the first trimester of pregnancy for individuals that are looking to identify or are at higher risk of passing chromosomal abnormalities. A tissue cell sample of the placenta is obtained abdominally via needle or via vaginal insertion of a catheter/syringe into the cervix in combination ...

  6. Noninvasive prenatal testing - Wikipedia

    en.wikipedia.org/wiki/Noninvasive_prenatal_testing

    Noninvasive prenatal testing (NIPT) is a method used to determine the risk for the fetus being born with certain chromosomal abnormalities, such as trisomy 21, trisomy 18 and trisomy 13. [ 1 ] [ 2 ] [ 3 ] This testing analyzes small DNA fragments that circulate in the blood of a pregnant woman. [ 4 ]

  7. Cell-free fetal DNA - Wikipedia

    en.wikipedia.org/wiki/Cell-free_fetal_DNA

    An example of an algorithm for determining the indication for prenatal genetic testing for trisomy 21 (Down syndrome), wherein the genetic blood test (in center) is performed by detecting cffDNA in a blood sample from the mother. [60] Trisomy 21. Fetal trisomy of chromosome 21 is the cause of Down's syndrome.

  8. Confined placental mosaicism - Wikipedia

    en.wikipedia.org/wiki/Confined_placental_mosaicism

    Certain chromosomes carry imprinted genes involved in growth or placental function, which may contribute to impaired pregnancy progress when CPM is detected. [7] Different chromosomes are observed at different frequencies depending on the type of CPM observed. [2] The pregnancy outcome is strongly chromosome specific.

  9. Amniocentesis - Wikipedia

    en.wikipedia.org/wiki/Amniocentesis

    Another test that may be performed is a chromosomal microarray, which can detect chromosomal imbalances, such as small- and large-scale deletions and duplications. [8] Chromosomal microarray can be performed on cultured or uncultured fetal tissue, with results available as early as 3 days. [5]

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