Noninvasive prenatal testing (NIPT), also known as noninvasive prenatal screening (NIPS), is a way of detecting the risk of a fetus having certain genetic disorders at birth. This test examines tiny bits of DNA that circulate in the blood of a pregnant woman. Unlike most DNA, which is located inside the nucleus of a cell, these pieces are free-floating and not contained within cells, and so are referred to as cell-free DNA (cfDNA). These little fragments, which typically contain fewer than 200 DNA building blocks (base pairs), form as cells die and are broken down, releasing their contents, including DNA, into the bloodstream. During pregnancy, the mother's bloodstream contains a mixture of cfDNA from her cells and placental cells. The placenta is uterine tissue that connects the fetus to the mother's blood supply. Throughout the pregnancy, these cells are shed into the mother's circulation. DNA in placental cells is usually identical to DNA in fetuses. Studying cfDNA from the placenta allows for the early diagnosis of some genetic defects without causing harm to the fetus.
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