ISPD (International Society of Prenatal Diagnosis) recognises that NIPT (in combination with suitable genetic testing) can be helpful as a screening test for women with a high risk of having a child with chromosomal abnormalities. A positive NIPT test should be confirmed through invasive testing.

NSGC (National Society of Genetic Counselors) supports NIPT as an option for patients whose pregnancies are considered to present an increased risk for certain chromosome abnormalities. Patients with high risk NIPT results for any chromosome abnormality should receive genetic counselling and the option of standard confirmatory diagnostic testing.

False-positive rates associated with traditional screening tests mean that many women who are not carrying a fetus with a chromosome abnormality will have invasive diagnostic procedures and subject themselves to an otherwise unnecessary risk of miscarriage.

Many prenatal screening options already exist. However, compared to non-invasive prenatal testing (NIPT), traditional screening methods suffer from lower detection rate and higher false-positive rates. Invasive diagnostic tests such as amniocentesis or chorionic villus sampling (CVS) are accurate but carry a 1–2% risk of miscarriage.