Outcome of fetuses with early increased nuchal translucency: systematic review and meta-analysis.
Matarrelli B, Khalil A, Bernassola M, Ranucci L, Vizzielli G, Lucidi A, Prasad S, D'Antonio F.
Ultrasound Obstet Gynecol. 2025 Aug;66(2):147-154. doi: 10.1002/uog.29260. Epub 2025 Jun 16.
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.
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.
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.
Fetal Screening for Chromosomal Abnormalities.
Fiorentino DG, Hughes F.
Neoreviews. 2021 Dec 1;22(12):e805-e818. doi: 10.1542/neo.22-12-e805.
Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnostics.
Huang Y, Fu S, Shao D, Yao Y, Wu F, Yao M.
BMC Med Genomics. 2025 Apr 29;18(1):81. doi: 10.1186/s12920-025-02139-y.
Women should decide which conditions matter.
Norton ME, Kuppermann M.
Am J Obstet Gynecol. 2016 Nov;215(5):583-587.e1. doi: 10.1016/j.ajog.2016.06.045.
Genetic etiology and pregnancy outcomes of fetuses with central nervous system anomalies.
Tao H, Wu J, Han Y, Zhang B, Zhai J.
Arch Gynecol Obstet. 2024 Jun;309(6):2567-2574. doi: 10.1007/s00404-023-07152-z. Epub 2023 Jul 21.
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.
