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Down syndrome

4 June 2025

Diagnosing Down syndrome

There are several types of tests that can be performed during pregnancy to detect Down syndrome:

  • 1
    Prenatal screening tests

    Combination of blood tests and ultrasounds performed during the first and second trimester of pregnancy. These tests provide information about the statistical risk level of the woman giving birth to a child with Down syndrome during the current pregnancy. Based on the results, a recommendation will be given for further testing. These screenings are safe for both fetus and mother.

    More info about Screening for Down Syndrome and Other Fetal Defects

  • 2
    Fetal DNA tests from the mother’s blood (NIPS / NIPT)

    During pregnancy, free segments of placental DNA that are largely identical to the fetal DNA are released into the mother’s blood. This test, which involves collecting a blood sample from the mother, tries to detect in the genetic material of the fetus any chromosomal abnormality, including Down syndrome. This is a screening with a level of accuracy of 99% in detection of Down syndrome and should be performed from Week 11 of pregnancy. If the test raises the suspicion of a chromosomal abnormality in the fetus, the findings must be confirmed through chorionic villi sampling (CVS) or amniocentesis. This test is currently performed privately but is subsidized as part of the pregnancy basket of the various HMOs and private insurance.

    More info about NIPS / NIPT

  • 3
    Diagnostic tests

    Chorionic villus sampling and amniocentesis can diagnose Down syndrome during pregnancy, but not the severity of the syndrome and its effects. It is important to note that diagnostic tests carry a risk of various complications and even miscarriage.

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