Pregnant women’s experiences with genome-wide non-invasive prenatal testing in a national screening program – European Journal of Human Genetics

  • Chandrasekharan S, Minear MA, Hung A, Allyse M. Noninvasive prenatal testing is going global. Sci Transl Med. 2014;6:231fs15.

    Google Scholar article

  • Gadsbøll K, Petersen OB, Gatineau V, Strange H, Jacobsson B, Wapner R, et al. Current use of non-invasive prenatal screening in Europe, Australia and the United States: a graphical presentation. Acta Obstet Gynecol Scand. 2020;99:722–30.

    Google Scholar article

  • Ravitsky V, Roy MC, Haidar H, Henneman L, Marshall J, Newson AJ, et al. The emergence and worldwide spread of non-invasive prenatal screening. Ann Rev Genom Human Genet. 2021;22:309–38.

    Google Scholar article

  • Vermeesch JR, Voet T, Devriendt K. Prenatal and preimplantation genetic diagnosis. Nat Rev Genet. 2016;17:643–56.

    CAS Google Scholar Article

  • van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, et al. TRIDENT-2: National implementation of the non-invasive genome-wide prenatal test as a first level screening test in the Netherlands. Am J Hum Genet. 2019;105:1091–101.

    Google Scholar article

  • Van Den Bogaert K, Lannoo L, Brison N, Gatinois V, Baetens M, Blaumeiser B, et al. Outcomes of publicly funded first-level noninvasive prenatal screening. Genet Med. 2021;23:1137–42.

    Google Scholar article

  • Bianchi DW, Chiu RWK. Sequencing of cell-free DNA circulating during pregnancy. N Engl J Med. 2018;379:464–73.

    CAS Google Scholar Article

  • Christiaens L, Chitty LS, Langlois S. Current controversies in prenatal diagnosis: An expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered. Prenatal Diagnosis 2021;41:1316–23.

    CAS Google Scholar Article

  • Chitty LS, Hudgins L, Norton ME. Current Controversies in Prenatal Diagnosis 2: Prenatal cell-free DNA screening should be used to identify all chromosomal abnormalities. Prenat Diagn. 2018;38:160–5.

    Google Scholar article

  • Bekker M, Henneman L, Macville M, Sistermans E, Galjaard RJ. The benefits versus potential harms of genome-wide prenatal cfDNA testing require further investigation and should not be ruled out based on current evidence. Gynecol Obstetrics Ultrasound. 2020;55:695–6.

    CAS Google Scholar Article

  • van Prooyen Schuurman L, Sistermans EA, Van Opstal D, Henneman L, Bekker MN, Bax CJ, et al. Clinical impact of additional findings detected by genome-wide noninvasive prenatal testing: follow-up results from the TRIDENT-2 study. Am J Human Genet. 2022;109:1140–52.

    Google Scholar article

  • Rose NC, Kaimal AJ, Dugoff L, Norton ME. Screening for fetal chromosomal abnormalities: ACOG practice bulletin, number 226. Obstet Gynecol. 2020;136:e48–e69.

    Google Scholar article

  • Benn P, Borrell A, Chiu RW, Cuckle H, Dugoff L, Faas B, et al. Statement of the Chromosomal Anomaly Screening Committee on behalf of the Board of Directors of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015;35:725–34.

    Google Scholar article

  • Kliff S, Bhatia A. When warning of rare disorders, these prenatal tests are usually wrong. The New York Times. 2022. https://www.nytimes.com/2022/01/01/upshot/pregnancy-birth-genetic-testing.html

  • Chiu EKL, Hui WWI, Chiu RWK. cfDNA screening and diagnosis of single gene disorders – where are we headed? Prenat Diagn. 2018;38:52–8.

    CAS Google Scholar Article

  • Chesnais V, Ott A, Chaplais E, Gabillard S, Pallares D, Vauloup-Fellous C, et al. Use of massively parallel shotgun sequencing of maternal plasma cell-free DNA for the detection of cytomegalovirus DNA in pregnancy: a proof-of-concept study. Sci Rep. 2018;8:4321.

    Google Scholar article

  • Manders V, Visser A, Keijser R, Min N, Poutsma A, Mulders J, et al. The NRIP1/ZEB2 bivariate RNA marker allows non-invasive presymptomatic screening for pre-eclampsia. Sci Rep. 2020;10:21857.

    CAS Google Scholar Article

  • Linthorst J, Welkers MRA, Sistermans EA. Distinct fragmentation patterns of circulating cell-free viral DNA in 83,552 noninvasive prenatal test specimens. Extracellular and circulating vesicles. Nucleic acids. 2021;2:228–37.

    Google Scholar

  • Labonté V, Alsaid D, Lang B, Meerpohl JJ. Psychological and social consequences of noninvasive prenatal testing (NIPT): a scoping review. BMC Pregnancy Childbirth. 2019;19:385.

    Google Scholar article

  • Heesterbeek CJ, Aukema SM, Galjaard RH, Boon EMJ, Srebniak MI, Bouman K, et al. Noninvasive prenatal test results indicative of maternal malignancies: a nationwide genetic and clinical follow-up study. J Clin Oncol. 2022:40:2426–35.

  • van der Meij KRM, Njio A, Martin L, Gitsels-van der Wal JT, Bekker MN, van Vliet-Lachotzki EH, et al. Routinization of prenatal screening with the non-invasive prenatal test: perspectives of pregnant women. Eur J Human Genet. 2022;30:661–8.

    Google Scholar article

  • Hammer TM, Bekker H. The development of a six-item short form of the Spielberger State-Trait Anxiety Inventory (STAI) state scale. Br J Clin Psychol. 1992;31:301–6.

    CAS Google Scholar Article

  • van der Bij AK, de Weerd S, Cikot RJ, Steegers EA, Braspenning JC. Validation of the Dutch Short Form of the Spielberger State Anxiety Inventory State Scale: Considerations for Use in Screening Outcomes. Comm Genet. 2003;6:84–7.

    Google Scholar

  • Koelewijn JM, Sluijs AM, Vrijkotte TGM. Possible relationship between general and pregnancy-related anxiety during the first half of pregnancy and the childbirth process: a prospective cohort study. BMJ open. 2017;7:e013413.

    Google Scholar article

  • Huizink AC, Delforterie MJ, Scheinin NM, Tolvanen M, Karlsson L, Karlsson H. Adaptation of the pregnancy anxiety questionnaire – revised for all pregnant women regardless of parity: PRAQ-R2. Arch Women’s Mental Health. 2016;19:125–32.

    CAS Google Scholar Article

  • Westerneng M, Witteveen AB, Warmelink JC, Spelten E, Honig A, de Cock P. Pregnancy-specific anxiety and its association with baseline characteristics and health-related behaviors in a low-risk population. Understanding Psychiatry. 2017;75:6–13.

    Google Scholar article

  • van Schendel RV, Dondorp WJ, Timmermans DR, van Hugte EJ, de Boer A, Pajkrt E, et al NIPT-based screening for Down syndrome and beyond: what do pregnant women think? Prenatal diagnosis. 2015;35:598–604.

    Google Scholar article

  • Schoonen HM, van Agt HM, Essink-Bot ML, Wildschut HI, Steegers EA, de Koning HJ. Informed decision in prenatal screening for trisomy 21: what knowledge is relevant? Patient education tips. 2011;84:265–70.

    CAS Google Scholar Article

  • van den Berg M, Timmermans DR, ten Kate LP, van Vugt JM, van der Wal G. Informed decision making in the context of prenatal screening. Patient education tips. 2006;63:110–7.

    Google Scholar article

  • van der Steen SL, Diderich KEM, Riedijk SR, Verhagen-Visser J, Govaerts LCP, Joosten M, et al. Pregnant couples at increased risk for common aneuploidies choose maximum information from invasive genetic testing. Clin Genet. 2014;88:25–31.

    Google Scholar article

  • Hill M, Johnson JA, Langlois S, Lee H, Winsor S, Dineley B, et al. Preferences for prenatal testing for Down syndrome: an international comparison of the views of pregnant women and health professionals. Eur J Hum Genet. 2015;24:968–75.

    Google Scholar article

  • Bayefsky MJ, Berkman BE. Implementation of expanded prenatal genetic testing: should parents have access to all fetal genetic information? Am J Bioeth. 2022;22:4–22.

    Google Scholar article

  • Tamminga S, van Schendel RV, Rommers W, Bilardo CM, Pajkrt E, Dondorp WJ, et al. Switching to NIPT as a first-rate screening test and future prospects: opinion of health professionals. Prenat Diagn. 2015;35:1316–23.

    Google Scholar article

  • Bianchi DW, Chudova D, Sehnert AJ, Bhatt S, Murray K, Prosen TL, et al. Non-invasive prenatal test and incidental detection of occult maternal malignancies. JAMA. Rev. 2015;314:162–9.

    CAS Google Scholar Article

  • Gammon BL, Jaramillo C, Riggan KA, Allyse M. Decisional regret in women receiving high-risk or inconclusive prenatal cell-free DNA screening results. J Matern Fetal Neonatal Med. 2020;33:1412–8.

  • Lou S, Mikkelsen L, Hvidman L, Petersen OB. Nielsen CPj. Does screening for Down syndrome cause anxiety in pregnant women? A systematic review. Acta Obstet Gynecol Scand. 2015;94:15–27.

    Google Scholar article

  • Figueiredo B, Conde A. Anxiety and depression in women and men from early pregnancy to 3 months postpartum. Arch Women’s Mental Health. 2011;14:247–55.

    Google Scholar article

  • Evans K, Morrell CJ, Spiby H. Systematic review and meta-analysis of non-pharmacological interventions to reduce symptoms of mild to moderate anxiety in pregnant women. J Adv Nurs. 2018;74:289–309.

    Google Scholar article

  • Evans K, Spiby H, Morrell JC. Non-pharmacological interventions to reduce symptoms of mild to moderate anxiety in pregnant women. A systematic review and narrative synthesis of women’s perspectives on acceptability and satisfaction with interventions. Arch Women’s Mental Health. 2020;23:11–28.

    Google Scholar article

  • Haidar H, Le Clerc-Blain J, Vanstone M, Laberge AM, Bibeau G, Ghulmiyyah L, et al. A qualitative study of women and partners in Lebanon and Quebec regarding an expanded scope of non-invasive prenatal screening. BMC Pregnancy Childbirth. 2021;21:54.

    Google Scholar article

  • Bowman-Smart H, Savulescu J, Mand C, Gyngell C, Pertile MD, Lewis S, et al. “Is it better not to know certain things? »: opinions of women who have undergone a non-invasive prenatal test on its possible future applications. J Med Ethics. 2019;45:231.

    Google Scholar article

  • Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, et al. Noninvasive prenatal screening for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015;23:1438–50.

    Google Scholar article

  • Kater-Kuipers A, de Beaufort ID, Galjaard R-JH, Bunnik EM. Rethinking counseling in prenatal screening: an ethical analysis of informed consent in the context of non-invasive prenatal testing (NIPT). Bioethics. 2020;34:671–8.

    Google Scholar article

  • van der Meij KRM Implementation of genome-wide non-invasive prenatal testing in a national prenatal screening program. Amsterdam: Free University; 2022. https://research.vu.nl/en/publications/implementing-genome-wide-non-invasive-prenatal-testing-in-a-natio.

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