RT Journal Article
T1 Contingent prenatal screening for frequent aneuploidies with cell-free fetal DNA analysis.
A1 Torres Aguilar, M Rosario
A1 Carrasco Salas, Pilar
A1 Santos Rosa, Cristina
A1 Bueno Rodríguez, Guadalupe
A1 Martínez-Bonet, Eduardo
A1 Carreto Alba, Práxedes
A1 Leon-Justel, Antonio
A1 Granell Escobar, M Reyes
K1 Cell-free fetal DNA
K1 Contingent prenatal screening
K1 Harmony test
AB To analyze the results of contingent screening for common aneuploidies at our center from June 2017 to June 2019. Traditional screening tests were performed using a combination of biochemical markers and ultrasound measurements in the first and second trimesters to assess the risk of trisomies 21 (T21), 18 (T18) and 13 (T13). Cell-free DNA (cf-DNA) testing was offered (Harmony test) to pregnant women at high risk (>1/280 for T21 and > 1/150 for T13 and T18) and a normal early morphology scan. In positive cases, prenatal sampling was strongly recommended to confirm the results by gold standard methods (QF-PCR and karyotyping). Newborns' phenotypes were corroborated after birth in all cases. In this prospective study, 8153 pregnant women were enrolled, resulting in 390 at high risk according to traditional screening tests. cfDNA testing was offered to 383 women. Traditional screening tests showed a false negative rate of 9.68% for T21. Traditional test sensitivity for T21 was 90.3%, for a false positive rate of 4.17% and a positive predictive value of 7.6%. The positive and negative predictive value for cfDNA testing was 100%. The approach used avoided invasive procedures in 91.3% of women at high risk. The prevalence of chromosomal abnormalities in the population analyzed was 1 in 164, and 1 in 210 for T21. Our results show that offering cf-DNA testing to women at high risk in traditional tests (including those with risks >1 in 50) significantly reduces false positives and, therefore, the number of invasive tests. Extending the use of cf-DNA testing to intermediate risk categories may be cost effective.
YR 2021
FD 2021
LK http://hdl.handle.net/10668/18186
UL http://hdl.handle.net/10668/18186
LA en
DS RISalud
RD Apr 6, 2025