NIPT (NonInvasive prenatal testing/Cell free DNA-Qnatal, Materna 21, InformaSeq, Harmony)
This is a screening test that is able to evaluate fetal cells in the maternal blood stream. At this time it is recommended for patients at higher risk for chromosomal anomalies. Please confirm with your insurance company if they will cover you if you are not high risk
(studies have shown the test to be accurate for low- risk patients and we anticipate that this test will be recommended for this population soon)
It screens for 3 of the more common chromosomal anomalies- Trisomy 21 (Down Syndrome)- an extra chromosome 21, Trisomy 18 and Trisomy 13.
It also can detect some sex chromosome conditions where there may be an additional or missing sex chromosome (X and Y chromosome).
This test is not diagnostic- it is not definitive and will only identify if your risk is decreased or increased for these conditions.
Only invasive testing such as CVS (chorionic villus sampling), or amniocentesis can make definitive diagnosis.