Project 1
-
Non Invasive Prenatal Diagnosis of Trisomy 21
RESEARCH PROJECT TO BE FINANCED
This research project has already been approved by the Scientific Committee
Clinical validation of a method of Prenatal Diagnosis (PND) for Trisomy 21 with a simple blood test (without any risk of miscarriage)
Further details on the subject:
Presently, a two-step screening for the risk of Trisomy 21 (serology + ulrasound exams, possibly followed by amniocentesis) is proposed to all pregnant women. It generally leads women who are found at risk (at present 11 % of pregnant women, i.e. around 80 000 women per year) to accept the invasive diagnosis (amniocentesis), which carries a risk of miscarriage of around 2 %. This means that 700-1000 fetuses without any chromosomal abnormality are lost each year. Moreover, about 20 % of trisomic fetuses are not detected by the serology + ultrasound approach.
A PND method for Trisomy 21 with a simple blood test has already been developed and technically validated. STL is looking for funding (600 K€) to carry out its clinical validation (3 years) in order for the test to be proposed to pregnant women.
This project is supported by the CIANE coalitition of non-profit societies representing consumers of maternity care.
See: http://cianewiki.naissance.asso.fr/LettrePresidentRepublique160409
