All pregnant women can be screened for trisomy 21 by blood tests. This test is now fully reimbursed by the Health Insurance.
The DNA test to detect trisomy 21 is not mandatory, but since January 18, 2019, it is reimbursed by the Health Insurance. Doctors perform a blood test to analyze the fetal DNA, and check that there is no abnormality of chromosome 21. This test is much less invasive and dangerous than amniocentesis.
Webzine Following the recommendations of the HAS, the trisomy21 screening strategy has evolved and integrates the free DNA test circulating in the maternal blood.- High Health Authority (@HAS_sante) January 22, 2019
? More efficient and less invasive screening
? Explanations: //t.co/SdEvFlElnl pic.twitter.com/eIokxekSQn
A cost of 390 euros
Since May 2017, the High Health Authority has included "non-invasive prenatal screening" (PNI) in its recommendations to pregnant women. In the private sector, they had to bear the costs, but this blood test was carried out free of charge in public hospitals thanks to special protocols that make it possible to reimburse innovative treatments. From now on, the Health Insurance will cover its cost: about 390 euros.
The test, estimated to be 99% reliable, is included in a trisomy 21 screening protocol. In the first trimester of pregnancy, an ultrasound is performed to measure the fetal nudal clarity: it consists in measuring the detachment between the skin and the skin. spine. Due to the age of the pregnant woman and a blood test, doctors can estimate a level of risk. When it is between 1/1000 and 1/51, they propose to the pregnant woman to carry out a DPNI, and if it is greater than or equal to 1/50, it is necessary to realize a karyotype of the fetus thanks to anmniocentesis or a trophoblast biopsy (a sample of the tissue that will form the placenta).
A reduction in the number of amniocentesis
Previously, the DPNI stage did not exist, and all women whose risk ranged from 1/1000 to 1/51 were encouraged to perform amniocentesis. This involves taking amniotic fluid by piercing the membrane surrounding the fetus. According to the National College of Gynecologists and Obstetricians French, with this technique, the risk of miscarriage is 1%.
Trisomy 21 results from the presence of three chromosomes 21 instead of two. In each individual, its consequences are different: retardation of development, particular physical characters, malformations, etc. This genetic anomaly is the most widespread in France. It concerns between 50,000 and 60,000 people.