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Non-invasive prenatal testing (NIPT)

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Most of the pregnancies go to term uneventfully, but sometimes specific changes are detected in the fetal development that may indicate abnormality in the fetal genetic material. Some of these abnormalities are numerical chromosomal changes, where fetuses have an extra chromosome compared to normal chromosomal number.

For example, in the most common chromosomal abnormality syndrome, Down syndrome, the fetus has three copies (trisomy) of chromosome 21 instead of the normal two copies. Other common chromosome abnormality syndromes are trisomy 18, where the fetus has three copies of chromosome 18, and trisomy 13, where the fetus has three copies of chromosome 13. Turner syndrome and Klinefelter syndrome are the most common sex chromosome abnormality syndromes, where the fetus has only one X chromosome instead of two (X0, Turner) or two X chromosome instead of one (XXY, Klinefelter).

Abnormalities in the other chromosomes are very rare. Numerical changes can affect any chromosome, and in addition, smaller changes that do not change the number of chromosomes but change the structure of the chromosome (copy number changes) can be present in any chromosome. These rare abnormalities may affect the fetal growth or placental function, or sometimes cause congenital anomalies in the fetus. Sometimes these abnormalities are restricted only to the placenta, or they are mosaics, meaning that the change can be detected only in a small fraction of cells of the fetus.

NIPT test is a non-invasive screening test that can be used to predict the risk of chromosomal changes in the fetus. NIPT test cannot be used as a diagnostic test

Treatment facilities

Lääketieteellisen genetiikan laboratorio

Laboratorio on erikoistunut sytogenetiikan ja perinnöllisten tautien molekyyligenetiikan tutkimuksiin.