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NSGC cell free DNA screening fact sheets
cfDNA screening (also referred to as non-invasive prenatal testing, NIPT, or non-invasive prenatal screening, NIPS) is a screening test that utilizes bioinformatic algorithms and next generation sequencing of fragments of DNA in maternal serum to determine the probability of certain chromosome conditions in a pregnancy. All individuals have their own cell-free DNA in their blood stream. During pregnancy, cell-free DNA from the placenta (predominantly trophoblast cells) also enters the maternal blood stream and mixes with maternal cell-free DNA. The DNA of the trophoblast cells usually reflects the chromosomal make-up of the fetus.
cfDNA routinely screens for trisomy 21, trisomy 18 and trisomy 13. Screening for fetal sex, sex chromosome aneuploidy, other aneuploidies, triploidy, and specific microdeletion conditions is also available. Conditions included on the cfDNA panel vary based upon the performing laboratory. cfDNA cannot screen for all chromosome or genetic conditions.
Click to download the complete fact sheet on Abnormal cfDNA Results.