Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis.
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH.
Ultrasound Obstet Gynecol. 2017 Sep;50(3):302-314. doi: 10.1002/uog.17484. Epub 2017 Jul 27.
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, Bilardo CM, Boon EMJ, Boter M, Diderich KEM, de Die-Smulders CEM, Duin LK, Faas BHW, Feenstra I, Haak MC, Hoffer MJV, den Hollander NS, Hollink IHIM, Jehee FS, Knapen MFCM, Kooper AJA, van Langen IM, Lichtenbelt KD, Linskens IH, van Maarle MC, Oepkes D, Pieters MJ, Schuring-Blom GH, Sikkel E, Sikkema-Raddatz B, Smeets DFCM, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Ven AJEM, van Zelderen-Bhola SL, Henneman L, Galjaard RH, Van Opstal D, Weiss MM; Dutch NIPT Consortium.
Am J Hum Genet. 2019 Dec 5;105(6):1091-1101. doi: 10.1016/j.ajhg.2019.10.005. Epub 2019 Nov 7.
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.
Minnella GP, Crupano FM, Syngelaki A, Zidere V, Akolekar R, Nicolaides KH.
Ultrasound Obstet Gynecol. 2020 May;55(5):637-644. doi: 10.1002/uog.21956.
Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT.
Gadsbøll K, Vogel I, Kristensen SE, Pedersen LH, Hyett J, Petersen OB; Danish Cytogenetic Central Register study group.
Ultrasound Obstet Gynecol. 2024 Oct;64(4):470-479. doi: 10.1002/uog.27667. Epub 2024 Sep 4.
Where have all the trisomies gone?
Palomaki GE, Lambert-Messerlian GM, Haddow JE.
Am J Obstet Gynecol. 2016 Nov;215(5):583-587.e1. doi: 10.1016/j.ajog.2016.06.046.
First Trimester Tricuspid Regurgitation: Clinical Significance.
Teixeira S, Guedes-Martins L.
Curr Cardiol Rev. 2023;19(3):e061222211643. doi: 10.2174/1573403X19666221206115642.
Fetal Screening for Chromosomal Abnormalities.
Fiorentino DG, Hughes F.
Neoreviews. 2021 Dec 1;22(12):e805-e818. doi: 10.1542/neo.22-12-e805.
Causes of Congenital Malformations.
Toufaily MH, Westgate MN, Lin AE, Holmes LB.
Birth Defects Res. 2018 Jan;110(2):87-91. doi: 10.1002/bdr2.1105.
Retrospective study on NIPT or NIPT plus combined with ultrasound in screening fetal chromosomal abnormalities.
Chen M, Chen P, Yu S, Ai L, Yu X, Wang R, Yan J, Lin S.
Sci Rep. 2025 Apr 15;15(1):12859. doi: 10.1038/s41598-025-97230-w.
First-trimester screening-biomarkers and cell-free DNA.
Suciu I, Galeva S, Abdel Azim S, Pop L, Toader O.
J Matern Fetal Neonatal Med. 2021 Dec;34(23):3983-3989. doi: 10.1080/14767058.2019.1698031. Epub 2019 Dec 8.
