ISPD (International Society of Prenatal Diagnosis) ISPD recognises that NIPT can be helpful as a screening test for women who have a high risk for Trisomy 21 with suitable genetic counselling. A positive test should be confirmed through invasive testing.

NSGC (National Society of Genetic Counselors) The NSGC 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 be given 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.

A Comparison of False Positive Rates (FPR)

0,1 %

Integrated Screening

4 %

Serum Integrated Screening

7 %

Quad Screening

10 %

First Trimester Screening

9 %

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

> 99 %

Available from week 10

Integrated Screening

< 96 %

Available from week 15

Serum Integrated Screening

< 88 %

Available from week 15

Quad Screening

< 81 %

Available from week 15

First Trimester Screening

< 80 %

Available from week 10