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Noninvasive prenatal screening is a non-invasive (blood) test that can be taken early in pregnancy to learn about the chance for the fetus to have certain types of chromosome conditions including Down syndrome, trisomy 18, trisomy 13. These conditions can lead to health issues including birth defects and intellectual disabilities, and the severity can vary.
NIPS results may help the patient and healthcare provider make more informed medical management decisions. Compared to other screening methods for chromosome conditions, non-invasive prenatal screening has fewer false positive and false negatives.
NIPS results indicate whether there is an increased or decreased chance for certain chromosome conditions. All “positive” results should be discussed with a healthcare provider and follow-up testing (diagnostic testing) is recommended to determine if a chromosome condition is actually present or not. “Negative” results significantly reduce, but cannot eliminate, the chance of a chromosome condition in a pregnancy; this result does not guarantee a healthy pregnancy.
NIPS may reveal sensitive information about the health of the pregnancy, or, rarely, the patient’s own health. NIPS will detect the majority of pregnancies in which the fetus has one of the chromosome conditions listed above, but it does not detect or look for all known genetic diseases, syndromes, or birth defects. As with all medical screening tests, there is a chance of a false positive or false negative result.
There are various options available that provide insight into the chromosomal health of the pregnancy. These include screening as well as diagnostic options, such as CVS or amniocentesis. Diagnostic testing is capable of providing definitive information about the chromosomal health of the pregnancy. Options for testing for chromosome abnormalities should be discussed between each patient and their healthcare provider. As any and all testing for chromosome differences is completely voluntary, a patient has the right to decline all such tests during pregnancy.