Diagnostic Mother and Baby

Prenatal screening using cell-free DNA (cfDNA), also known as Non-Invasive Prenatal Testing (NIPT), is a test to prenatally detect Down syndrome and other common aneuploidies (presence of an abnormal number of chromosomes in cells).  This test assesses fragments of cfDNA derived from the placenta that are circulating in maternal blood to determine if there is an increased chance that the fetus has an aneuploidy.  cfDNA screening should be considered in pregnancies at increased risk of aneuploidy, but is offered to all our patients.  cfDNA screening has higher sensitivity and specificity for trisomy 21 (Down syndrome) and trisomy 18(Edward’s syndrome) than conventional screening tests. 

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Positive results are confirmed by diagnostic test (amniocentesis - retrieving a small amount of amniotic fluid surrounding the baby for testing). Negative results are reassuring but additional follow-up testing and consultation may still be indicated