References
1. Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011.
2. Hogan GJ, Vysotskaia VS, Beauchamp KA, Seisenberger S, Grauman PV, Haas KR, et al. Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification. Clinical chemistry. 2018;64(7):1063-73.
3. Johansen Taber KA, Beauchamp KA, Lazarin GA, Muzzey D, Arjunan A, Goldberg JD. Clinical utility of expanded carrier screening: results-guided actionability and outcomes. Genetics in medicine : official journal of the American College of Medical Genetics. 2019;21(5):1041-8.
4. Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F, et al. Responsible implementation of expanded carrier screening. European journal of human genetics : EJHG. 2017;25(11):1291.
5. Nazareth SB, Lazarin GA, Goldberg JD. Changing trends in carrier screening for genetic disease in the United States. Prenatal diagnosis. 2015;35(10):931-5.
6. Committee Opinion No. 690: Carrier Screening in the Age of Genomic Medicine. Obstetrics and gynecology. 2017;129(3):e35-e40.
7. Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstetrics and gynecology. 2017;129(3):e41-e55.
8. Edwards JG, Feldman G, Goldberg J, Gregg AR, Norton ME, Rose NC, et al. Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstetrics and gynecology. 2015;125(3):653-62.
9. Kraft SA, Duenas D, Wilfond BS, Goddard KAB. The evolving landscape of expanded carrier screening: challenges and opportunities. Genetics in medicine : official journal of the American College of Medical Genetics. 2019;21(4):790-7.
10. Lindheim SR, Jaeger AS. Expanded preconception carrier screening in clinical practice: cutting the Gordian Knot. Fertility and sterility. 2015;104(2):281-2.
11. Gilmore MJ, Schneider J, Davis JV, Kauffman TL, Leo MC, Bergen K, et al. Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing. Journal of genetic counseling. 2017;26(5):971-9.
12. Nijmeijer SCM, Conijn T, Lakeman P, Henneman L, Wijburg FA, Haverman L. Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism. Molecular genetics and metabolism. 2019;126(1):14-22.
13. Shiroff JJ, Nemeth LS. Public Perceptions of Recessive Carrier Testing in the Preconception and Prenatal Periods. Journal of obstetric, gynecologic, and neonatal nursing : JOGNN. 2015;44(6):717-25.
14. Van Steijvoort E, Chokoshvili D, J WC, Peeters H, Peeraer K, Matthijs G, et al. Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature. Human reproduction update. 2020;26(3):335-55.
15. Schuurmans J, Birnie E, Ranchor AV, Abbott KM, Fenwick A, Lucassen A, et al. GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why? European journal of human genetics : EJHG. 2020;28(2):182-92.
16. Zhao S, Xiang J, Fan C, Asan, Shang X, Zhang X, et al. Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples. European journal of human genetics : EJHG. 2019;27(2):254-62.
17. Xi Y, Chen G, Lei C, Wu J, Zhang S, Xiao M, et al. Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology. Molecular genetics & genomic medicine. 2020:e1340.
18. He WB, Tan YQ, Hu X, Li W, Xiong B, Luo KL, et al. Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency. BMC medical genetics. 2018;19(1):15.
19. Pereira N, Wood M, Luong E, Briggs A, Galloway M, Maxwell RA, et al. Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes. Journal of assisted reproduction and genetics. 2019;36(4):709-16.
20. Ekstrand Ragnar M, Tyden T, Kihlbom U, Larsson M. Swedish parents’ interest in preconception genetic carrier screening. Upsala journal of medical sciences. 2016;121(4):289-94.
21. Plantinga M, Birnie E, Abbott KM, Sinke RJ, Lucassen AM, Schuurmans J, et al. Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases. European journal of human genetics : EJHG. 2016;24(10):1417-23.
22. Kauffman TL, Irving SA, Leo MC, Gilmore MJ, Himes P, McMullen CK, et al. The NextGen Study: patient motivation for participation in genome sequencing for carrier status. Molecular genetics & genomic medicine. 2017;5(5):508-15.
23. Propst L, Connor G, Hinton M, Poorvu T, Dungan J. Pregnant Women’s Perspectives on Expanded Carrier Screening. Journal of genetic counseling. 2018;27(5):1148-56.
24. Spencer S, Ewing S, Calcagno K, O’Neill S. Adopted Individuals’ Views on the Utility and Value of Expanded Carrier Screening. Journal of genetic counseling. 2018;27(6):1341-8.
25. Chokoshvili D, Belmans C, Poncelet R, Sanders S, Vaes D, Vears D, et al. Public Views on Genetics and Genetic Testing: A Survey of the General Public in Belgium. Genetic testing and molecular biomarkers. 2017;21(3):195-201.
26. Li G, Chandrasekharan S, Allyse M. ”The Top Priority Is a Healthy Baby”: Narratives of Health, Disability, and Abortion in Online Pregnancy Forum Discussions in the US and China. Journal of genetic counseling. 2017;26(1):32-9.
27. Shen J. Precision assessment of public attitudes toward genetic testing. American journal of medical genetics Part A. 2016;170(12):3185-8.
28. Wertz D. Eugenics is alive and well: a survey of genetic professionals around the world. Science in context. 1998;11(3-4):493-510.
29. Rudan I, Chan KY, Zhang JS, Theodoratou E, Feng XL, Salomon JA, et al. Causes of deaths in children younger than 5 years in China in 2008. Lancet (London, England). 2010;375(9720):1083-9.
30. Wang L, Wang Z, Ma Q, Fang G, Yang J. The development and reform of public health in China from 1949 to 2019. Globalization and health. 2019;15(1):45.
31. Holtkamp K, Mathijssen I, Lakeman P, van Maarle M, Dondorp W, Henneman L, et al. Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives. 2017;27(2):372-7.
32. Ames AG, Metcalfe SA, Dalton Archibald A, Duncan RE, Emery J. Measuring informed choice in population-based reproductive genetic screening: a systematic review. European journal of human genetics : EJHG. 2015;23(1):8-21.
33. Ong R, Howting D, Rea A, Christian H, Charman P, Molster C, et al. Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening. Journal of medical genetics. 2018;55(11):744-52.
34. Glanz K, Lewis FM, Rimer BKJM, Sports Si, Exercise. Health Behavior and Health Education: Theory, Research, and Practice. 1991;23(12):1404.
35. Higgins A, Flanagan JD, Von Wald T, Hansen KAJOJoO, Gynecology. An Expanded Carrier Screening Tool Enhances Preconception Cystic Fibrosis Screening in Infertile Couples. 2015;05(7):412-6.
36. Cai W, Wu F. Influence of Income Disparity on Child and Adolescent Education in China: A Literature Review. New directions for child and adolescent development. 2019;2019(163):97-113.
37. Shen Y, Qiu X, Gui B, He S, Huang H, Xue J, et al. Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China. 2018;2(1):30-6.
38. Chen LS, Goodson P. Factors affecting decisions to accept or decline cystic fibrosis carrier testing/screening: a theory-guided systematic review. Genetics in medicine : official journal of the American College of Medical Genetics. 2007;9(7):442-50.
39. Henneman L, Bramsen I, van der Ploeg HM, ten Kate LP. Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction. Genetic testing. 2002;6(3):195-202.
40. Cho D, McGowan ML, Metcalfe J, Sharp RR. Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals. Human reproduction (Oxford, England). 2013;28(6):1725-30.
41. Norton ME. Expanded Carrier Screening: A Rational Approach to Screening for Rare Diseases. Obstetrics and gynecology. 2017;130(2):260-1.
42. Stevens B, Krstic N, Jones M, Murphy L, Hoskovec J. Finding Middle Ground in Constructing a Clinically Useful Expanded Carrier Screening Panel. Obstetrics and gynecology. 2017;130(2):279-84.
43. Wienke S, Brown K, Farmer M, Strange C. Expanded carrier screening panels-does bigger mean better? Journal of community genetics. 2014;5(2):191-8.
44. Chokoshvili D, Vears DF, Borry P. Growing complexity of (expanded) carrier screening: Direct-to-consumer, physician-mediated, and clinic-based offers. Best practice & research Clinical obstetrics & gynaecology. 2017;44:57-67.
45. Kihlbom U. Ethical issues in preconception genetic carrier screening. Upsala journal of medical sciences. 2016;121(4):295-8.
46. McClaren BJ, Delatycki MB, Collins V, Metcalfe SA, Aitken M. ’It is not in my world’: an exploration of attitudes and influences associated with cystic fibrosis carrier screening. European journal of human genetics : EJHG. 2008;16(4):435-44.