What does low-risk NIPT mean?

It is genuinely reassuring, and it is not a clean bill of health. Both are true. A low-risk result substantially reduces the chance that your baby has the specific conditions screened for — usually trisomies 21, 18 and 13, sometimes sex chromosome conditions. The negative predictive value is high. What it does not do, in ACMG's own framing, is eliminate risk, and it does not reduce the risk of any genetic condition other than those screened. Specifically, a low-risk result does not exclude: Around half of the chromosome abnormalities that amniocentesis would find. Unbalanced translocations, deletions and duplications. Single gene conditions such as thalassaemia, cystic fibrosis or sickle cell disease. Open neural tube defects such as spina bifida — a separate blood test at 15 to 20 weeks screens for these. Structural abnormalities of the heart, kidneys, limbs and other organs — your anomaly scan covers these. So a low-risk NIPT does not replace your remaining antenatal care. Your anomaly scan around 18 to 20 weeks is still important, and so is neural tube defect screening. If you have a family history of a specific genetic condition, or you and your partner are both carriers of something, NIPT does not address that at all and separate testing should be discussed.