Full title: Non-invasive prenatal testing using fetal DNA in maternal blood as first-line test for the detection of trisomies 21, 18, 13 and sex chromosomes aneuploidies
Authors: Linertová R, del Pino Sedeño T, Hernández Yumar A, Torres Castaño A, Herrera Ramos E, Abrante Luis A, Arnal Artiaga L, Cazaña Pérez V, Capafons Sosa JI, López Mujica X, González de León B, Pérez Celis A, Alvarez de la Rosa Rodríguez M, Ramallo Fariña Y, García Pérez L
Contact person: Renata Linertová (renata.linertova@sescs.es)
SUMMARY
Non-invasive prenatal testing (NIPT) is a blood test performed on the pregnant woman that makes it possible to estimate whether the fetus has certain abnormalities in the number of chromosomes. The most common abnormalities are Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), and abnormalities of the sex chromosomes (changes in the X or Y chromosomes). Detecting these abnormalities during pregnancy can help families receive appropriate information and support and make informed decisions. Currently, most Autonomous Communities offer NIPT to detect these trisomies in women at higher risk.
This report analyses whether it would be beneficial to expand the use of NIPT to all pregnant women and to also include abnormalities of the sex chromosomes in the test. To this end, several systematic reviews of scientific studies were carried out, and costs and benefits were compared.
The available studies show that NIPT is very accurate for detecting common trisomies. When the test is used to detect sex chromosome abnormalities, it also identifies most cases, but it increases the number of positive results in fetuses that ultimately do not have the abnormality.
Offering NIPT to all pregnant women would allow more cases to be detected, but at a high cost for the public healthcare system. Furthermore, confirming all cases would involve performing more invasive tests, such as amniocentesis, which may carry some risk of pregnancy loss. If NIPT were offered only to women at higher risk, but sex chromosome abnormalities were included, some additional cases would be detected compared with current practice, but with a much lower economic impact.
Detecting sex chromosome abnormalities raises important ethical and social challenges. Receiving the diagnosis during pregnancy can have a significant emotional impact. For this reason, it is essential that pregnant women and their families receive clear information and have access to specialised genetic counselling.
In conclusion, NIPT is a useful and accurate tool, but decisions about expanding its use must also take into account costs, ethical and organisational aspects, as well as the preferences of women and their families.
DOCUMENTS:
- Full report:
