![]() The accuracy of the test varies by disorder. NIPT primarily looks for Down syndrome (trisomy 21, caused by an extra chromosome 21), trisomy 18 (caused by an extra chromosome 18), trisomy 13 (caused by an extra chromosome 13), and extra or missing copies of the X chromosome and Y chromosome (the sex chromosomes). NIPT is most often used to look for chromosomal disorders that are caused by the presence of an extra or missing copy ( aneuploidy) of a chromosome. Analyzing cfDNA from the placenta provides an opportunity for early detection of certain genetic abnormalities without harming the fetus. The DNA in placental cells is usually identical to the DNA of the fetus. These cells are shed into the mother’s bloodstream throughout pregnancy. The placenta is tissue in the uterus that links the fetus and the mother’s blood supply. These small fragments usually contain fewer than 200 DNA building blocks (base pairs) and arise when cells die off and get broken down and their contents, including DNA, are released into the bloodstream.ĭuring pregnancy, the mother’s bloodstream contains a mix of cfDNA that comes from her cells and cells from the placenta. Unlike most DNA, which is found inside a cell’s nucleus, these fragments are free-floating and not within cells, and so are called cell-free DNA (cfDNA). ![]() This testing analyzes small fragments of DNA that are circulating in a pregnant woman’s blood. Noninvasive prenatal testing (NIPT), sometimes called noninvasive prenatal screening (NIPS), is a method of determining the risk that the fetus will be born with certain genetic abnormalities.
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