146
Views
0
CrossRef citations to date
0
Altmetric
Research Article

“Your son has Klinefelter syndrome.” How parents react to a prenatal diagnosis

ORCID Icon, , , , , , , & show all

References

  • Abramsky, L., & Chapple, J. (1997). 47, XXY (Klinefelter syndrome) and 47, XYY: Estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling. Prenatal Diagnosis: Published in Affiliation with the International Society for Prenatal Diagnosis, 17(4), 363–368. doi:10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O
  • Abramsky, L., Hall, S., Levitan, J., & Marteau, T. M. (2001). What parents are told after prenatal diagnosis of a sex chromosome abnormality: Interview and questionnaire study. Bmj, 322(7284), 463–466. doi:10.1136/bmj.322.7284.463
  • Bishop, D. V., Jacobs, P. A., Lachlan, K., Wellesley, D., Barnicoat, A., Boyd, P. A., & Scerif, G. (2011). Autism, language and communication in children with sex chromosome trisomies. Archives of Disease in Childhood, 96(10), 954–959. doi:10.1136/adc.2009.179747
  • Bishop, D. V., & Scerif, G. (2011). Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: The neuroligin–neurexin hypothesis. Acta Paediatrica, 100(6), 903–907. doi:10.1111/j.1651-2227.2011.02150.x
  • Bojesen, A., Juul, S., & Gravholt, C. H. (2003). Prenatal and postnatal prevalence of Klinefelter syndrome: A national registry study. Journal of Clinical Endocrinology and Metabolism, 88(2), 622–626. doi:10.1210/jc.2002-021491
  • Bourke, E., Snow, P., Herlihy, A., Amor, D., & Metcalfe, S. (2014). A qualitative exploration of mothers’ and fathers’ experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis. European Journal of Human Genetics, 22(1), 18. doi:10.1038/ejhg.2013.102
  • Dall’Ara, F. (2018). Pietro e la sua X in più [Peter and his supernumerary X]. Milano, Italy: 22 Publishing.
  • De Jong, A., Dondorp, W. J., De Die-smulders, C. E., Frints, S. G., & De Wert, G. M. (2010). Non-invasive prenatal testing: Ethical issues explored. European Journal of Human Genetics, 18(3), 272–277. doi:10.1038/ejhg.2009.203
  • Dennis, A., Howell, S., Cordeiro, L., & Tartaglia, N. (2015). “How should I tell my child?” Disclosing the diagnosis of sex chromosome aneuploidies. Journal of Genetic Counseling, 24(1), 88–103. doi:10.1007/s10897-014-9741-4
  • Dondorp, W., De Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., & Henneman, L. (2015). Non-invasive prenatal testing for aneuploidy and beyond: Challenges of responsible innovation in prenatal screening. European Journal of Human Genetics, 23(11), 1438. doi:10.1038/ejhg.2015.57
  • Ferlin, A. (2020). Strategies to improve early diagnosis of Klinefelter syndrome. Expert Review of Endocrinology & Metabolism, 15(6), 375–378. doi:10.1080/17446651.2020.1831912
  • Girardin, C. M., & Van Vliet, G. (2011). Counselling of a couple faced with a prenatal diagnosis of Klinefelter syndrome. Acta Paediatrica, 100(6), 917–922. doi:10.1111/j.1651-2227.2011.02156.x
  • Gruchy, N., Vialard, F., Decamp, M., Choiset, A., Rossi, A., Le Meur, N., & Herbaut-Graux, M. (2011). Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome. Human Reproduction, 26(9), 2570–2575. doi:10.1093/humrep/der193
  • Hall, S., Abramsky, L., & Marteau, T. M. (2003). Health professionals’ reports of information given to parents following the prenatal diagnosis of sex chromosome anomalies and outcomes of pregnancies: A pilot study. Prenatal Diagnosis, 23(7), 535–538. doi:10.1002/pd.637
  • Herlihy, A. S., McLachlan, R. I., Gillam, L., Cock, M. L., Collins, V., & Halliday, J. L. (2011). The psychosocial impact of Klinefelter syndrome and factors influencing quality of life. Genetics in Medicine, 13(7), 632. doi:10.1097/GIM.0b013e3182136d19
  • Jacobs, P. A., & Strong, J. A. (1959). A case of human intersexuality having a possible XXY sex-determining mechanism. Nature, 183, 302–303. doi:10.1038/183302a0
  • Klinefelter, H. F., Reifenstein, E. C., & Albright, F. (1942). Syndrome characterized by gynecomastia, aspermatogenesis without A-Leydigism, and increased excretion of follicle-stimulating hormone. The Journal of Clinical Endocrinology, 2(11), 615–627. doi:10.1210/jcem-2-11-615
  • Lalatta, F., Bianchi, V., Fogliani, R., Quagliarini, D., Guerneri, S., Silibello, G., … Gargantini, L. (2014). La diagnosi prenatale della sindrome di Klinefelter [The prenatal diagnosis of Klinefelter syndrome]. L’Endocrinologo, 15(6), 247–252.
  • Lalatta, F., Quagliarini, D., Folliero, E., Cavallari, U., Gentilin, B., Castorina, P., & Naretto, V. G. (2010). Triple X syndrome: Characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis. European Journal of Pediatrics, 169(10), 1255–1261. doi:10.1007/s00431-010-1221-8
  • Marteau, T. M., Nippert, I., Hall, S., Limbert, C., Reid, M., Bobrow, M., & García‐Miñaur, S. (2002). Outcomes of pregnancies diagnosed with Klinefelter syndrome: The possible influence of health professionals. Prenatal Diagnosis: Published in Affiliation with the International Society for Prenatal Diagnosis, 22(7), 562–566. doi:10.1002/pd.374
  • Riggan, K. A., Close, S., & Allyse, M. A. (2020). Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 184(2), 404–413.
  • Silibello, G., Dall’Ara, F., Ajmone, P. F., Monti, F., & Zampini, L. (2020). Early developmental pathways and communication good practices. In A. Garolla & G. Corona (Eds.), Klinefelter’s syndrome: From a disabling condition to a variant of normalcy, (pp. 47–55). Nature, Switzerland: Springer. ISBN: 978-3-030-51410-5
  • St John, M., Ponchard, C., Van Reyk, O., Mei, C., Pigdon, L., Amor, D. J., & Morgan, A. T. (2019). Speech and language in children with Klinefelter syndrome. Journal of Communication Disorders, 78, 84–96. doi:10.1016/j.jcomdis.2019.02.003
  • Tartaglia, N., Cordeiro, L., Howell, S., Wilson, R., & Janusz, J. (2010). The spectrum of the behavioral phenotype in boys and adolescents 47, XXY (Klinefelter syndrome). Pediatric Endocrinology Reviews, 8, 151.
  • Tremblay, I., Van Vliet, G., Gonthier, M., & Janvier, A. (2016). Partnering with parents to disclose Klinefelter syndrome to their child. Acta paediatrica, 105(5), 456–461. doi:10.1111/apa.13301
  • Zampini, L., Burla, T., Silibello, G., Dall’Ara, F., Rigamonti, C., Lalatta, F., & Vizziello, P. (2018). Early communicative skills of children with Klinefelter syndrome. Clinical Linguistics & Phonetics, 32(7), 577–586. doi:10.1080/02699206.2017.1384853
  • Zampini, L., Ferrante, C., Silibello, G., Dall’Ara, F., Rigamonti, C., Zanchi, P., … Costantino, M. A. (2020). Maternal input to children with sex chromosome trisomies. International Journal of Language & Communication Disorders, 55(5), 724–733. doi:10.1111/1460-6984.12557
  • Zitzmann, M., Aksglaede, L., Corona, G., Isidori, A. M., Juul, A., T’Sjoen, G., … Ferlin, A. (2021). European academy of andrology guidelines on Klinefelter Syndrome Endorsing Organization: European Society of Endocrinology. Andrology, 9(1), 145–167. doi:10.1111/andr.12909

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.