The non-invasive prenatal testing, often known as non-invasive prenatal screening is used for assessing the risk that a fetus might have several genetic abnormalities during the time of birth.Such testing analyzes the circulation of the small DNA fragments in the blood of the pregnant woman.
DNA fragments keep floating outside the cell, and hence known as cell-free DNA. These are found inside the nucleus of the cell, unlike most DNA. These fragments contain lesser than 200 DNA base pairs. They arise when cells die off and get broken down and their contents are released into the bloodstream.
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A pregnant women’s bloodstream includes a mix of cfDNA, emerging from her cells, and the cells of the placenta. The placenta is a tissue found in the uterus of pregnant women which connects the fetus to the blood supply of the mother.
Throughout the pregnancy phase, the cells are shed off into the bloodstream of the mother. The DNA of the placental cells and the fetus’ DNA are usually identical. The analysis of the cfDNA of the placenta enables early detection of several genetic abnormalities without causing any harm to the fetus.
NIPT is widely used for diagnosis of the chromosomal disorders, primarily caused by the absence of aneuploidy or the presence of extra aneuploidy in a chromosome. NIPT usually helps in the diagnosis of Down Syndrome.
NIPT may also diagnose additional chromosomal disorders caused by duplicated or deleted sections of the chromosome.
Initially, NIPT is used for the detection of genetic disorders caused by the changes in the variants in single genes. The technological improvements and decrease in genetic testing costs are projected to make NIPT available for numerous genetic conditions.
NIPT is a non-invasive method that involves drawing blood from a pregnant woman and does not cause any threat to the fetus. It is a screening test done to exactly know if the fetus has genetic disorders or not. It also measures the risk of developing certain conditions.
There should be sufficient fetal cDNA in the bloodstream of the mother to detect fetal chromosome abnormalities. The cDNA proportion in maternal blood emerging from the placenta is known as a fetal fraction.
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Moreover, the fetal fraction must be more than 4%, which usually occurs during the 10th week of pregnancy. The low fetal fractions can cause an inability in performing the test and can give inaccurate negative results. There are various factors that may cause low fetal fractions such as early testing in the pregnancy, maternal obesity, fetal abnormality, and sampling errors.
There are various NIPT methods for analyzing fetal cfDNA. For instance, by counting all cfDNA fragments, chromosomal aneuploidy can be determined. The percentage of cfDNA fragments in each chromosome is as expected, then it reduces the risk of developing the chromosomal condition.
Therefore, NIPT holds a greater prominence due to the early detection of genetic disorders in the fetus before childbirth.
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