par donner, catherine 
;Désir, Julie
Référence Revue médicale de Bruxelles, 40, 2, page (111-116)
Publication Publié, 2019
;Désir, Julie Référence Revue médicale de Bruxelles, 40, 2, page (111-116)
Publication Publié, 2019
Article révisé par les pairs
| Résumé : | Fetal screenings concern essentially the detection of aneuploidies and more particularly trisomy 21, which is the most frequent chromosomal anomaly. Screening based on the detection of risk factors was based solely on maternal age, and then associated with different serum markers and measurement of nuchal translucency in the first trimester of pregnancy. In 2008, the first studies published the possibility of screening for aneuploidies using next generation sequencing techniques. Since then, numerous studies describe the quantification of circulating DNA. NIPT achieves sensitivity and specificity for the detection of trisomy 21 respectively of 99 and 99.5 %. The detection rate of other aneuploidies such as trisomy 18 and trisomy 13 is also high: 96 % and 91 %. NIPT was first used in a population at risk and then in the general population. The limits of the test, the failures, and the false positives are better known and analyzed. The complexification of screening tests through the use of NIPT and its development requires rigorous information of pregnant women, updated and renewed training of doctors and midwives and close collaboration with geneticists. This is yet more crucial in a context where the NIPT has been reimbursed in Belgium since July 1, 2017, and systematically proposed. The number of tests carried out in one year is 6 times higher than the annual average carried out previously. |
