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  2. Down syndrome - Wikipedia

    en.wikipedia.org/wiki/Down_syndrome

    The extra chromosome content can arise through several different ways. The most common cause (about 92–95% of cases) is a complete extra copy of chromosome 21, resulting in trisomy 21. [91] [96] In 1–2.5% of cases, some of the cells in the body are normal and others have trisomy 21, known as mosaic Down syndrome.

  3. Triple test - Wikipedia

    en.wikipedia.org/wiki/Triple_test

    The most common abnormality the test can screen is trisomy 21 (Down syndrome).In addition to Down syndrome, the triple and quadruple screens assess risk for fetal trisomy 18 also known as Edwards syndrome, open neural tube defects, and may also detect an increased risk of Turner syndrome, triploidy, trisomy 16 mosaicism, fetal death, Smith–Lemli–Opitz syndrome, and steroid sulfatase ...

  4. Genetic testing - Wikipedia

    en.wikipedia.org/wiki/Genetic_testing

    The American Academy of Pediatrics (AAP) and the American College of Medical Genetics (ACMG) have provided new guidelines for the ethical issue of pediatric genetic testing and screening of children in the United States. [70] [71] Their guidelines state that performing pediatric genetic testing should be in the best interest of the child. AAP ...

  5. VACTERL association - Wikipedia

    en.wikipedia.org/wiki/VACTERL_association

    VACTERL association. The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below). This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.

  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] Unlike most DNA found in the nucleus of a cell, these ...

  7. Prenatal testing - Wikipedia

    en.wikipedia.org/wiki/Prenatal_testing

    Prenatal testing is a tool that can be used to detect some birth defects at various stages prior to birth. Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects of prenatal care that focus on detecting problems with the pregnancy as early as possible. [1] These may be anatomic and physiologic problems with ...

  8. Birth defect - Wikipedia

    en.wikipedia.org/wiki/Birth_defect

    3% of newborns (US) [8] Deaths. 628,000 (2015) [9] A birth defect[a] is an abnormal condition that is present at birth, regardless of its cause. [2] Birth defects may result in disabilities that may be physical, intellectual, or developmental. [2] The disabilities can range from mild to severe. [6]

  9. Nuchal scan - Wikipedia

    en.wikipedia.org/wiki/Nuchal_scan

    In another study values of 79.6% and 2.7% for the combined screening were then improved with the addition of second trimester ultrasound scanning to 89.7% and 4.2% respectively. [13] A further study reported detection of 88% for trisomy 21 (Down syndrome) and 75% for trisomy 18 ( Edwards syndrome ), with a 3.3% false-positive rate. [ 14 ]

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