Patient consultation

We understand that many patients will have questions regarding non-invasive prenatal testing. We’ve listed some points to consider when talking to your patients about the screening options available to them.

1. ISPD (International Society of Prenatal Diagnosis) ISPD recognises that NIPT can be helpful as a screening test for women who are at high risk of Trisomy 21 with suitable genetic counselling. A positive test should be con?rmed through invasive testing.
2. NSCG (National Society of Genetic Counselors) The NSGC supports NIPT as an option for patients whose pregnancies are considered to be at an increased risk of certain chromosome abnormalities. Patients whose NIPT results are abnormal, or who have other factors suggestive of a chromosome abnormality, should receive genetic counselling and be given the option of standard confirmatory diagnostic testing.
3. High false positive rates associated with traditional screening tests mean that many women who are not carrying a positive fetus will have invasive diagnostic procedures and subject themselves to an otherwise unecessary risk of miscarriage.
   

   A Comparison of False Positive Rates (FPR)

   

4. Many prenatal screening options already exist. However, compared to non-invasive prenatal testing (NIPT), traditional screening methods suffer from lower accuracy 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.
   

   A Comparison of Detection Rates