NIPT Non-invasive prenatal testing

Non-invasive prenatal screening tests use a maternal blood sample to detect numerous genetic abnormalities that may lead to the foetus developing various conditions. The abnormalities that are most frequently encountered in humans are trisomy 21 (Down’s syndrome), followed by trisomy 18 (Edward’s syndrome) and 13 (Patau’s syndrome).
Other abnormalities may also be detected at an early stage, making it possible to anticipate important decisions.

Non-invasive prenatal screening test (NIPT) for trisomy 21 and other fetal aneuploidies

Trisomy is a genetic anomaly that is characterized by the presence of an extra chromosome in the cells of a fetus. The trisomy most frequently encountered in humans is trisomy 21, followed by trisomy’s 18 and 13.
The purpose of the NIPT test is to analyze fetal DNA circulating in the maternal blood by means of high throughput sequencing of DNA via NGS (Next Generation Sequencing) technology coupled with a powerful bioinformatics analysis. This method allows a detection rate of trisomy’s higher than 99% without risk for the fetus.

Fast, reliable and safe, the NIPT can detect trisomy’s 13, 18 and 21 with a simple sample of maternal blood and avoids the risk of miscarriage associated with invasive sampling.

More information here

PrenatalSafe comprehensive NIPT

PrenatalSafe COMPLETE (PrenatalSAFE Karyo)
PrenatalSAFE Karyo screens all the chromosomes of the foetus. It produces a karyotype without the need for invasive procedures, and screens for chromosome abnormalities (13,18, 21) as well as rarer abnormalities such as trisomy 16 and 22.
The test also detects structural abnormalities such as duplications or deletions. Prenatal Safe Karyo detects over 99% of chromosome abnormalities.

PrenatalSafe COMPLETE Plus (PrenatalSAFE Karyo Plus)
In addition to the tests carried out as part of PrenatalSAFE Karyo, the PrenatalSAFE Karyo Plus version analyses nine microdeletion regions that are responsible for severe postnatal illnesses. These abnormalities and their prevalence in the population are listed in the table available to download below.

Download the list of microdeletion syndromes

Indications for the test

Maternal age > 35 years
Positive maternal serum screening result
Abnormal ultrasound results
Previous aneuploidy pregnancy
Parental translocation
Patients seeking urgent reassurance
Patients who wish to avoid invasive procedures
Patients at risk of the genetic disorders tested*
Paternal age > 40 years*
Abnormal ultrasound results suggestive of a monogenic disorder*
Low-risk pregnancies (parental request)

*only in PrenatalSAFE Complete

The test is suitable for:

Single and twin pregnancies (including vanishing twin pregnancies)
Pregnancies achieved by in vitro fertilisation techniques (including gamete donation)