دورية أكاديمية

Genetic counseling for fetal sex prediction by NIPT: Challenges and opportunities.

التفاصيل البيبلوغرافية
العنوان: Genetic counseling for fetal sex prediction by NIPT: Challenges and opportunities.
المؤلفون: Stevens C; MGH Institute of Health Professions, Boston, Massachusetts, USA.; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA., Llorin H; MGH Institute of Health Professions, Boston, Massachusetts, USA.; Center for Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Massachusetts, Boston, USA., Gabriel C; Genetische Poliklinik Universität Heidelberg, Heidelberg, Germany., Mandigo C; Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, Massachusetts, USA., Gochyyev P; MGH Institute of Health Professions, Boston, Massachusetts, USA., Studwell C; MGH Institute of Health Professions, Boston, Massachusetts, USA.; Center for Fetal Medicine and Reproductive Genetics, Brigham and Women's Hospital, Massachusetts, Boston, USA.
المصدر: Journal of genetic counseling [J Genet Couns] 2023 Oct; Vol. 32 (5), pp. 945-956. Date of Electronic Publication: 2023 Apr 27.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE
أسماء مطبوعة: Publication: 2019- : [Hoboken, NJ] : Wiley
Original Publication: New York, N.Y. : Human Sciences Press, c1992-
مواضيع طبية MeSH: Genetic Counseling* , Prenatal Diagnosis*/psychology, Pregnancy ; Female ; Humans ; Counseling ; Prenatal Care ; Aneuploidy
مستخلص: Non-invasive prenatal testing (NIPT) has grown in ubiquity in the last decade and is now endorsed by Society for Maternal Fetal Medicine and American College of Obstetricians and Gynecologists as a screening tool for aneuploidy in all patients. Past studies have demonstrated a tendency among obstetrics patients to focus on the ability of NIPT to predict fetal sex chromosomes; however, data on the experiences of genetic counselors (GCs) counseling on NIPT and fetal sex prediction are limited. This mixed-methods study aimed to explore how GCs counsel about NIPT and fetal sex prediction, as well as the use of gender-inclusive language in this setting. A 36-item survey with multiple choice, Likert scale, and open-ended questions was distributed to GCs who currently offer NIPT to patients. Quantitative data were analyzed using R and qualitative data were manually analyzed and coded via inductive content analysis. A total of 147 individuals completed at least some portion of the survey. A majority of participants (68.5%) reported frequent interchangeable use of the terms 'sex' and 'gender' by patients. A majority (72.9%) of participants reported that they rarely or never discuss the difference between these terms in sessions (Spearman's rho = 0.17, p = 0.052). Seventy-five respondents (59.5%) indicated that they had taken continuing education courses on inclusive clinical practices for trans and gender-diverse (TGD) patients. Several themes arose from free responses; the most frequently identified themes were the need for thorough pretest counseling that properly describes the scope of NIPT and the challenge of discrepant pretest counseling by other healthcare providers. Results from our research identified challenges and misconceptions GCs face when offering NIPT and various tactics implemented to mitigate these. Our study highlighted the need for the standardization of pretest counseling regarding NIPT, additional guidance from professional organizations, and continuing education focused on gender-inclusive language and clinical practices.
(© 2023 National Society of Genetic Counselors.)
References: Agatisa, P. K., Mercer, M. B., Coleridge, M., & Farrell, R. M. (2018). Genetic counselors' perspectives about cell-free DNA: Experiences, challenges, and expectations for obstetricians. Journal of Genetic Counseling, 27(6), 1374-1385.
Alencar Albuquerque, A. G., de Lima Garcia, C., da Silva Quirino, G., Alves, M. J. H., Belém, J. M., dos Santos Figueiredo, F. W., da Silva Paiva, L., do Nascimento, V. B., da Silva Maciel, É., Valenti, V. E., de Abreu, L. C., & Adami, F. (2016). Access to health services by lesbian, gay, bisexual, and transgender persons: Systematic literature review. BMC International Health and Human Rights, 16, 2.
Allyse, M., Minear, M. A., Berson, E., Sridhar, S., Rote, M., Hung, A., & Chandrasekharan, S. (2015). Non-invasive prenatal testing: A review of international implementation and challenges. International Journal of Women's Health, 7, 113-126.
Axt, J. R., Conway, M. A., Westgate, E. C., & Buttrick, N. R. (2021). Implicit transgender attitudes independently predict beliefs about gender and transgender people. Personality & Social Psychology Bulletin, 47(2), 257-274.
Baldwin, A., Dodge, B., Schick, V. R., Light, B., Scharrs, P. W., Herbenick, D., & Dennis Fortenberry, J. (2018). Transgender and genderqueer individuals' experiences with health care providers: What's working, what's not, and where do we go from here? Journal of Health Care for the Poor and Underserved, 29(4), 1300-1318.
Barnes, H., Morris, E., & Austin, J. (2020). Trans-inclusive genetic counseling services: Recommendations from members of the transgender and non-binary community. Journal of Genetic Counseling, 29(3), 423-434.
Barnes, M. W. (2015). Fetal sex determination and gendered prenatal consumption. Journal of Consumer Culture, 15(3), 371-390.
Berro, T., Zayhowski, K., Field, T., Channaoui, N., & Sotelo, J. (2020). Genetic Counselors' comfort and knowledge of cancer risk assessment for transgender patients. Journal of Genetic Counseling, 29(3), 342-351.
Browne, T. K. (2017). Why parents should not be told the sex of their fetus. Journal of Medical Ethics, 43(1), 5-10.
Buchanan, A., Sachs, A., Toler, T., & Tsipis, J. (2014). NIPT: Current utilization and implications for the future of prenatal genetic counseling. Prenatal Diagnosis, 34(9), 850-857.
Casanova, J., Jacob, C., Milot, H., & Cacia, S. (2019). Accurate fetal sex determination from maternal blood at 8 weeks gestation. International Journal of Pregnancy & Child Birth, 5(4), 135-137.
Cicero, E. C., Reisner, S. L., Merwin, E. I., Humphreys, J. C., & Silva, S. G. (2020). The health status of transgender and gender nonbinary adults in the United States. PLoS One, 15(2), e0228765.
Crocetti, D., Monro, S., Vecchietti, V., & Yeadon-Lee, T. (2021). Towards an agency-based model of intersex, variations of sex characteristics (VSC) and DSD/DSD health. Culture, Health & Sexuality, 23(4), 500-515.
Dungan, J. S., Klugman, S., Darilek, S., Malinowski, J., Akkari, Y. M. N., Monaghan, K. G., Erwin, A., & Best, R. G. (2023). Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine: Official Journal of the American College of Medical Genetics, 25(2), 100336.
Ellis, P. D. (2010). The essential guide to effect sizes: Statistical power, meta-analysis, and the interpretation of research results. Cambridge University Press.
Fausto-Sterling, A. (2000). Sexing the body: Gender politics and the construction of sexuality. Basic Books.
Fausto-Sterling, A. (2019). Gender/sex, sexual orientation, and identity are in the body: How did they get there? Journal of Sex Research, 56(4-5), 529-555.
Flores, A. R., Herman, J., Gates, G. J., & Brown, T. N. T. (2016). How many adults identify as transgender in the United States? occhd.org. https://www.occhd.org/application/files/4716/2465/3651/Trans_Production.pdf.
Gieseler, C. (2018). Gender-reveal parties: Performing community identity in pink and blue. Indian Journal of Gender Studies, 27(6), 661-671.
Groepper, D., McCarthy Veach, P., LeRoy, B. S., & Bower, M. (2015). Ethical and professional challenges encountered by laboratory genetic counselors. Journal of Genetic Counseling, 24(4), 580-596.
Hill, D. B., & Willoughby, B. L. B. (2005). The development and validation of the genderism and transphobia scale. Sex Roles, 53(7-8), 531-544.
Hoffkling, A., Obedin-Maliver, J., & Sevelius, J. (2017). From erasure to opportunity: A qualitative study of the experiences of transgender men around pregnancy and recommendations for providers. BMC Pregnancy and Childbirth, 17(Suppl 2), 332.
Hsieh, V., Braid, T., Gordon, E., & Hercher, L. (2021). Direct-to-consumer genetic testing companies tell their customers to ‘see a genetic counselor’. How do genetic counselors feel about direct-to-consumer genetic testing? Journal of Genetic Counseling, 30(1), 191-197.
Lewis, C., Hill, M., Skirton, H., & Chitty, L. S. (2012). Non-invasive prenatal diagnosis for fetal sex determination: Benefits and disadvantages from the service Users' perspective. European Journal of Human Genetics: EJHG, 20(11), 1127-1133.
Llorin, H., & Zayhowski, K. (2021). Degendering ‘the gender test’ - Reframing gender conversations in prenatal genetics clinics. National Society of Genetic Counselors Perspectives, September 7, 2021.
MacDonald, T., Noel-Weiss, J., West, D., Walks, M., Biener, M., Kibbe, A., & Myler, E. (2016). Transmasculine Individuals' experiences with lactation, Chestfeeding, and gender identity: A qualitative study. BMC Pregnancy and Childbirth, 16, 106.
Marzulla, T., Scott Roberts, J., DeVries, R., Koeller, D. R., Green, R. C., & Uhlmann, W. R. (2021). Genetic counseling following direct-to consumer genetic testing: Consumer perspectives. Journal of Genetic Counseling, 30(1), 329-334.
Milot, H., de Jerez, A., & Jacob, C. (2020). Large scale follow-up research study: SneakPeek® early gender DNA test 99.9% accurate for fetal sex by live-birth confirmation. International Journal of Pregnancy & Child Birth, 6(6), 165-168.
Monro, S., Carpenter, M., Crocetti, D., Davis, G., Garland, F., Griffiths, D., Hegarty, P., Travis, M., Grinspan, M. C., & Aggleton, P. (2021). Intersex: Cultural and social perspectives. Culture, Health & Sexuality, 23(4), 431-440.
Montgomery, S., & Thayer, Z. M. (2020). The influence of experiential knowledge and societal perceptions on decision-making regarding non-invasive prenatal testing (NIPT). BMC Pregnancy and Childbirth, 20(1), 630.
Nahata, L. (2017). The gender reveal: Implications of a cultural tradition for pediatric health. Pediatrics, 140(6), e20171834. https://doi.org/10.1542/peds.2017-1834.
National Society of Genetic Counselors. (2021). National Society of genetic counselors 2021 professional status survery. Work Environment, 2-19.
Oswald, F., Champion, A., Walton, K., & Pedersen, C. L. (2021). Revealing more than gender: Rigid gender-role beliefs and transphobia are related to engagement with fetal sex celebrations. Psychology of Sexual Orientation and Gender Diversity. Advance online publication. https://psycnet.apa.org/record/2021-86632-001.
R Core Team (2021). R: A language and environment for statistical computing. R Foundation for Statistical Computing. https://www.R-project.org/.
Reisner, S. L., Poteat, T., Keatley, J., Cabral, M., Mothopeng, T., Dunham, E., Holland, C. E., Max, R., & Baral, S. D. (2016). Global Health burden and needs of transgender populations: A review. The Lancet, 388(10042), 412-436.
Rolle, L., Zayhowski, K., Koeller, D., Chiluiza, D., & Carmichael, N. (2022). Transgender patients' perspectives on their cancer genetic counseling experiences. Journal of Genetic Counseling, 31(3), 781-791.
Rose, N. C., Kaimal, A. J., Dugoff, L., Norton, M. E., & American College of Obstetricians, and Gynecologists' Committee on Practice Bulletins-Obstetrics Committee on Genetics, Society for Maternal-Fetal Medicine. (2020). Screening for fetal chromosomal abnormalities: ACOG practice bulletin, number 226. Obstetrics & Gynecology, 136(4), e48.
Ruderman, M., Berro, T., Sosa, L. T., & Zayhowski, K. (2021). Genetic Counselors' experiences with transgender individuals in prenatal and preconception settings. Journal of Genetic Counseling, 30(4), 1105-1118.
Safer, J. D., Coleman, E., Feldman, J., Garofalo, R., Hembree, W., Radix, A., & Sevelius, J. (2016). Barriers to healthcare for transgender individuals. Current Opinion in Endocrinology, Diabetes, and Obesity, 23(2), 168-171.
Salkind, N. J. (2010). Encyclopedia of research design (Vol. 1). Sage.
Schuette, J. L., Yashar, B. M., & Uhlmann, W. R. (2011). A guide to genetic counseling. John Wiley & Sons.
von Vaupel-Klein, A. M., & Walsh, R. J. (2021). Considerations in genetic counseling of transgender patients: Cultural competencies and altered disease risk profiles. Journal of Genetic Counseling, 30(1), 98-109.
Wilson, K. L., Czerwinski, J. L., Hoskovec, J. M., Noblin, S. J., Sullivan, C. M., Harbison, A., Campion, M. W., Devary, K., Devers, P., & Singletary, C. N. (2013). NSGC practice guideline: Prenatal screening and diagnostic testing options for chromosome aneuploidy. Journal of Genetic Counseling, 22(1), 4-15.
Winter, S., Diamond, M., Green, J., Karasic, D., Reed, T., Whittle, S., & Wylie, K. (2016). Transgender people: Health at the margins of society. The Lancet, 388(10042), 390-400.
Yotsumoto, J., Sekizawa, A., Suzumori, N., Yamada, T., Samura, O., Nishiyama, M., Miura, K., Sawai, H., Murotsuki, J., Kitagawa, M., Kamei, Y., Masuzaki, H., Hirahara, F., Endo, T., Fukushima, A., Namba, A., Osada, H., Kasai, Y., Watanabe, A., … Japan NIPT Consortium. (2016). A survey on awareness of genetic counseling for non-invasive prenatal testing: The first year experience in Japan. Journal of Human Genetics, 61(12), 995-1001.
فهرسة مساهمة: Keywords: LGBTQ+; counseling techniques; gender; genetic counseling; prenatal screening; sex; underrepresented populations
تواريخ الأحداث: Date Created: 20230427 Date Completed: 20231006 Latest Revision: 20231006
رمز التحديث: 20231215
DOI: 10.1002/jgc4.1703
PMID: 37102371
قاعدة البيانات: MEDLINE
الوصف
تدمد:1573-3599
DOI:10.1002/jgc4.1703