1. Cuckle, HS, Wald, NJ, Lindenbaum, RH. Maternal serum alpha-fetoprotein measurement: a screening test for Down syndrome. Lancet 1984; 1: 926–929.
Google Scholar | Crossref | Medline | ISI2. Merkatz, IR, Nitowsky, HM, Macri, JN, et al. An association between low maternal serum alpha-fetoprotein and fetal chromosomal abnormalities. Am J Obstet Gynecol 1984; 148: 886–894.
Google Scholar | Crossref | Medline | ISI3. Wald, NJ, Cuckle, HS, Densem, JW, et al. Maternal serum screening for Down's syndrome in early pregnancy. BMJ 1988; 297: 883–887.
Google Scholar | Crossref | Medline4. Palomaki, GE, Lambert-Messerlian, GM, Canick, JA. A summary analysis of Down syndrome markers in the late first trimester. Adv Clin Chem 2007; 43: 177–210.
Google Scholar | Crossref | Medline | ISI5. Wright, D, Spencer, K, Kagan, KK, et al. First-trimester combined screening for trisomy 21 at 7–14 weeks' gestation. Ultrasound Obstet Gynecol 2010; 36: 404–411.
Google Scholar | Crossref | Medline | ISI6. Szabo, J, Gellen, J. Nuchal fluid accumulation in trisomy-21 detected by vaginosonography in first trimester. Lancet 1990; 336: 1133–1103.
Google Scholar | Crossref7. Wald, NJ, Hackshaw, AK. Combining ultrasound and biochemistry in first-trimester screening for Down’s syndrome. Prenat Diagn 1997; 17: 821–829.
Google Scholar | Crossref | Medline | ISI8. Wald, NJ, Rodeck, C, Hackshaw, AK, et al.; SURUSS Research Group . First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). Health Technol Assess 2003; 7: 1–77.
Google Scholar | Crossref9. Bianchi, DW, Platt, LD, Goldberg, JD, et al.; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group . Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012; 119: 890–901.
Google Scholar | Crossref | Medline | ISI10. Chiu, RW, Akolekar, R, Zheng, YW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011; 342: c7401.
Google Scholar | Crossref | Medline11. Palomaki, GE, Kloza, EM, Lambert-Messerlian, GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011; 13: 913–920.
Google Scholar | Crossref | Medline | ISI12. Badeau, M, Lindsay, C, Blais, J, et al. Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women. Cochrane Database Syst Rev 2017; 11: CD011767.
Google Scholar | Medline13. Screening for Fetal Chromosomal Abnormalities ACOG Practice Bulletin Summary, Number 226. Obstet Gynecol 2020; 136: 859–867.
Google Scholar | Crossref | Medline14. Wilson, RD , SOGC Genetics Committee and Contributor S . Prenatal screening, diagnosis, and pregnancy management of fetal neural tube defects. J Obstet Gynaecol Can 2014; 36: 927–939.
Google Scholar | Crossref | Medline15. Krantz, DA, Hallahan, TW, Carmichael, JB. Screening for open neural tube defects. Clin Lab Med 2016; 36: 401–406.
Google Scholar | Crossref | Medline16. Palomaki, GE, Ashwood, ER, Best, RG, et al. Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States? Genet Med 2015; 17: 897–900.
Google Scholar | Crossref | Medline17. Palomaki, GE, Knight, GJ, Ashwood, ER, et al. Screening for Down syndrome in the United States: results of surveys in 2011 and 2012. Arch Pathol Lab Med 2013; 137: 921–926.
Google Scholar | Crossref | Medline | ISI18. Alldred, SK, Takwoingi, Y, Guo, B, et al. First and second trimester serum tests with and without first trimester ultrasound tests for Down's syndrome screening. Cochrane Database Syst Rev 2017; 3: CD012599–03.
Google Scholar | Medline19. Wilson, RD, Gagnon, A, Audibert, F, et al.; GENETICS COMMITTEE . Prenatal diagnosis procedures and techniques to obtain a diagnostic fetal specimen or tissue: maternal and fetal risks and benefits. J Obstet Gynaecol Can 2015; 37: 656–668.
Google Scholar | Crossref | Medline20. Centers for Disease Control and Prevention NVSR , https://www.cdc.gov/nchs/products/nvsr.htm (accessed 28 April 2021).
Google Scholar21. Giguere, Y, Charland, M, Bujold, E, et al. Combining biochemical and ultrasonographic markers in predicting preeclampsia: a systematic review. Ann Biol Clin 2011; 69: 257–271.
Google Scholar | Medline22. Lambert-Messerlian, GM, Palomaki, GE, Neveux, LM, et al. Early onset preeclampsia and second trimester serum markers. Prenat Diagn 2009; 29: 1109–1117.
Google Scholar | Crossref | Medline | ISI23. Palomaki, GE, Kloza, EM, O'Brien, BM, et al. The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population. Genet Med 2017; 19: 778–786.
Google Scholar | Crossref | Medline24. Gadsboll, K, Petersen, OB, Gatinois, V, et al.; NIPT-map Study Group . Current use of noninvasive prenatal testing in Europe, Australia and the USA: a graphical presentation. Acta Obstet Gynecol Scand 2020; 99: 722–730.
Google Scholar | Crossref | Medline25. Chitty, LS, Wright, D, Hill, M, et al. Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units. BMJ 2016; 354: i3426.
Google Scholar | Crossref | Medline26. Wald, NJ, Bestwick, JP. Incorporating DNA sequencing into current prenatal screening practice for Down's syndrome. PLoS One 2013; 8: e58732.
Google Scholar | Crossref | Medline