FAQs

NIPT is the new Non-Invasive Prenatal Test on maternal blood to safely and reliabily screen pregnancies for the most common fetal chromosome anomalies Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Edwards syndrome).

Also the sex of the baby is determined.

NIPT is much more reliable than the classical first trimester screening or triple […]

1. Trisomy 21 (Down syndrome)
   This is caused by an extra copy of chromosome 21 and is also called Down syndrome. This is the most common genetic cause of intellectual disability. Individuals with Down syndrome have some degree of intellectual disability (average IQ of 50). Some children with Down syndrome have congenital defects of the heart […]

NIPT samples are analyzed for trisomy of chromosomes 21, 18, 13, and gender of the baby.
Aneuploidy of other chromosomes, other chromosome anomalies (including mocaicism for chromosomes 21, 18, 13), and triploidy, molecular anomalies or congenital anomalies including neural tube defects cannot be excluded.

Every pregnant woman might ask for NIPT as NIPT is much more reliable than the classical first trimester screening or triple test. Furthermore, NIPT is much safer than the invasive test procedures such as amniocentesis and chorionic villus sampling, which have a miscarriage risk of 1 %.

NIPT is not the best option in case of:

• Triplets
• Fetal anomalies on ultrasound
• Known genetic anomalies that cannot be diagnosed by NIPT

NIPT only requires a simple blood sampling of the pregnant woman, and carries no risk for the fetus. NIPT is therefore much safer than the invasive test procedures such as amniocentesis and chorionic villus sampling, which have a miscarriage risk of 1 %.

The reliability of NIPT results is very high (> 99 %), but not 100 %, which is also the case for amniocentesis and chorionic villus sampling.

The sensitivity of NIPT to exclude trisomy 21, 18 and 13 is very high: if NIPT is normal, the residual risk for trisomy 21, trisomy 18 and trisomy 13 is […]

The first trimester Down screening test (FTS) combines biochemical parameters in maternal blood with ultrasound parameters of the fetus. The biochemical tests are PAPP-A (Pregnancy Associated placental protein-A) and free beta-HCG (Human Chorionic Gonadotrophin). These values are combined with ultrasound measurements of the nuchal translucency (NT), a translucent spot in the neck of the fetus […]

The maternal blood can be taken from week 11 of the pregnancy, counting from the first day of the last menstruation (LMP). NIPT can be performed in the whole pregnancy starting from week 11.

For NIPT only blood from the mother is required. No sample from the father is necessary, unless a NIPT for cystic fibrosis, sickle cell anemia or beta thalassemia is requested. The sample has to be sent by Express mail to GENDIA’s lab in Antwerp, Belgium, and arrive there within 2 days of withdrawal.

The kits and […]