Abstract
Objective
Families’ experiences of children diagnosed with birth defects vary greatly in navigating care systems and there is no comprehensive national protocol or standards for support and referral processes at birth. This study builds on the results of previous literature examining these variations in access to care. A survey was conducted among providers from across Florida to determine current practices and recommendations for providing information, medical/community referrals, discharge planning, and family-centered care in hospital settings.
Methods
Fifty-four hospital health care providers across Florida completed an online survey for 11 congenital conditions through closed and open-ended responses. Survey questions were based on a literature review that focused on identifying and understanding the current practices related to providing information, support and referrals to families of infants born with birth defects. Analyses included descriptive statistics, and content analysis of the open-ended responses.
Results
Survey respondents identified key personnel, practices, and challenges related to family-centered care in birth hospitals. While information and referral are often provided to the family by the physician or nurse, other health care providers and community agencies also play an important role. Processes for information and referral vary by birth defect; however common structures that support Family-centered management include written materials for family information and support, participatory discharge planning, interdisciplinary communication and coordination, and provider training/awareness.
Conclusion
Through additional resources, staffing, increased communication, education, and coordination between health care providers, families and hospitals improvements can be made in the management of birth defect diagnosis and referrals. Best practices must be agreed upon, operationalized, disseminated, and evaluated so that parents consistently receive sensitive, individualized, timely information and referrals relative to their child’s condition.
Similar content being viewed by others
References
Arango, P. (2011). Family-centered care. Academic Pediatrics,11(2), 97–99.
Atienza-Carrasco, J., Linares-Abad, M., Padilla-Ruiz, M., & Morales-Gil, I. M. (2018). Breaking bad news to antenatal patients with strategies to lessen the pain: a qualitative study. Reproductive Health,15(1), 11. https://doi.org/10.1186/s12978-018-0454-2.
Ashtiani, S., Makela, N., Carrion, P., & Austin, J. (2014). Parents’ experiences of receiving their child's genetic diagnosis: a qualitative study to inform clinical genetics practice. American Journal of Medical Genetics. Part A,164A(6), 1496–1502.
Bishop, C. F., Small, N., Parslow, R., & Kelly, B. (2018). Healthcare use for children with complex needs: Using routine health data linked to a multiethnic, ongoing birth cohort. British Medical Journal Open,8(3), e018419.
Blyth, M., Howe, D., Gnanapragasam, J., & Wellesley, D. (2008). The hidden mortality of transposition of the great arteries and survival advantage provided by prenatal diagnosis. BJOG An International Journal of Obstetrics and Gynaecology,115(9), 1096–1100.
Carlsson, T., Bergman, G., Wadensten, B., & Mattsson, E. (2016). Experiences of informational needs and received information following a prenatal diagnosis of congenital heart defect. Penatal Diagnosis,36, 515–522. https://doi.org/10.1002/pd.4815.
Carlson, L. M., & Vora, N. L. (2017). Prenatal diagnosis: Screening and diagnostic tools. Obstetrics and Gynecology Clinics,44(2), 245–256.
Centers for Disease Control and Prevention (CDC). (2008). Update on overall prevalence of major birth defects–Atlanta, Georgia, 1978–2005. MMWR. Morbidity and Mortality Weekly Report,57(1), 1.
Clark, N. M., Gong, M., Schork, M. A., Evans, D., Roloff, D., Hurwitz, M., …Mellins, R. B. (1998). Impact of education for physicians on patient outcomes. Pediatrics, 101(5), 831-836.
Clay, A. M., & Parsh, B. (2016). Patient- and family-centered care: It’s not just for pediatrics anymore. AMA Journal of Ethics,18(1), 40–44. https://doi.org/10.1001/journalofethics.2017.18.1.medu3-1601.
Cole, J. C. M., Olkkola, M., Zarrin, H. E., Berger, K., & Moldenhauer, K. S. (2018). Universal postpartum mental health screening for parents of newborns with prenatally diagnosed birth defects. Journal of Obstetric, Gynecologic & Neonatal Nursing, 47(1), 84–93. https://doi.org/10.1016/j.jogn.2017.04.131.
Dent, K. M., & Carey, J. C. (2006). Breaking difficult news in a newborn setting: Down syndrome as a paradigm. American Journal of Medical Genetics Part C: Seminars in Medical Genetics,142(3), 173–179.
Eckersley, L., Sadler, L., Parry, E., Finucane, K., & Gentles, T. L. (2016). Timing of diagnosis affects mortality in critical congenital heart disease. Archives of Disease in Childhood,101(6), 516–520.
Falope, O., Kaushik, S., Vijayakumar, N., & Marshall, J. (2018). The Family Experiences Survey—Orofacial Clefts. Technical report. Retrived from https://health.usf.edu/publichealth/chiles/bdsp/cbr.
Fixler, D. E., Xu, P., Nembhard, W. N., Ethen, M. K., & Canfield, M. A. (2014). Age at referral and mortality from critical congenital heart disease. Pediatrics,134(1), e98–e105.
Friedberg, M. K., Silverman, N. H., Moon-Grady, A. J., Tong, E., Nourse, J., Sorenson, B., …Hornberger, L. K. (2009). Prenatal detection of congenital heart disease. The Journal of pediatrics, 155(1), 26–31. e21.
Ge, S., & Maulik, D. (2017). Introduction: From fetal echocardiography to fetal cardiology: A journey of over half a century. Echocardiography,34(12), 1757–1759.
Glynn, A., Saya, S., & Halliday, J. (2012). Use and non-use of genetic counseling after diagnosis of a birth defect. American Journal of Medical Genetics Part A,158(3), 559–566.
Gooding, J. S., Cooper, L. G., Blaine, A. I., Franck, L. S., Howse, J. L., & Berns, S. D. (2011). Family support and family-centered care in the neonatal intensive care unit: origins, advances, impact. Paper presented at the Seminars in perinatology,35, 20–28.
Greiner, A. L., & Conklin, J. (2015). Breaking bad news to a pregnant woman with a fetal abnormality on ultrasound. Obstetrical & gynecological survey,70(1), 39–44.
Hodgson, J., & McClaren, B. J. (2018). Parental experiences after prenatal diagnosis of fetal abnormality. Seminars in Fetal and Neonatal,23(2), 150–154. https://doi.org/10.1016/j.siny.2017.11.009.
Hunter, L. E., & Seale, A. N. (2018). Educational Series in Congenital Heart Disease: Prenatal diagnosis of congenital heart disease. Echo research and practice,5(3), R81–R100. https://doi.org/10.1530/ERP-18-0027.
Khangura, S. D., Karaceper, M. D., Trakadis, Y., Mitchell, J. J., Chakraborty, P., Tingley, K., …Laberge, A.-M. (2015). Scoping review of patient-and family-oriented outcomes and measures for chronic pediatric disease. BMC pediatrics, 15(1), 7.
Khoshnood, B., Lelong, N., Houyel, L., Bonnet, D., Ballon, M., Jouannic, J. M…EPICARD Study group (2017). Impact of prenatal diagnosis on survival of newborns with four congenital heart defects: a prospective, population-based cohort study in France (the EPICARD Study). BMJ open, 7(11), e018285.https://doi.org/10.1136/bmjopen-2017-018285
King, T. M., Tandon, S. D., Macias, M. M., Healy, J. A., Duncan, P. M., Swigonski, N. L., …Lipkin, P. H. (2010). Implementing developmental screening and referrals: lessons learned from a national project. Pediatrics, 125(2), 350-360.
Kuo, D. Z., Houtrow, A. J., Arango, P., Kuhlthau, K. A., Simmons, J. M., & Neff, J. M. (2012). Family-centered care: current applications and future directions in pediatric health care. Maternal and Child Health Journal,16(2), 297–305.
Lemacks, J., Fowles, K., Mateus, A., & Thomas, K. (2013). Insights from parents about caring for a child with birth defects. International journal of Environmental Research and Public Health,10(8), 3465–3482. https://doi.org/10.3390/ijerph10083465.
Liptak, G. S., & El Samra, A. (2010). Optimizing health care for children with spina bifida. Developmental disabilities research reviews,16(1), 66–75.
Marshall, J., Tanner, J. P., Kozyr, Y., & Kirby, R. S. (2015). Services and supports for young children with Down syndrome: parent and provider perspectives. Child Care, Health and Development,41(3), 365–373. https://doi.org/10.1111/cch.12162.
Marshall, J., Ramakrishnan, R. Slotnick, A., Tanner, J. P., Salemi, J. L. & Kirby, R. S. (2018). Family-Centered Perinatal Services for Children With Down Syndrome and Their Families in Florida. Journal of Obstetric, Gynecologic, and Neonatal Nursing, 48(1), 78–89. https://doi.org/10.1016/j.jogn.2018.10.006. Retrieved from https://www.jognn.org/article/S0884-2175(18)30352-6/pdf.
McClatchey, T., Lay, E., Strassberg, M., & Van den Veyver, I. B. (2018). Missed opportunities: unidentified genetic risk factors in prenatal care. Prenatal diagnosis,38(1), 75–79.
Montgomery, A., & Miller, L. (2001). Using the Colorado birth defects monitoring program to connect families with services for children with special needs. Teratology,64(S11), S42–S46.
Palfrey, J. S., Sofis, L. A., Davidson, E. J., Liu, J., Freeman, L., & Ganz, M. L. (2004). The pediatric alliance for coordinated care: Evaluation of a medical home model. Pediatrics,113(Supplement 4), 1507–1516.
Patterson, J., Taylor, G., Smith, M., Dotters-Katz, S., Davis, A. M., & Price, W. (2017). Transitions in care for infants with trisomy 13 or 18. American Journal of Perinatology,34(09), 887–894.
Richardson, A., & Ormond, K. E. (2018). Ethical considerations in prenatal testing: Genomic testing and medical uncertainty. Seminars in Fetal and Neonatal Medicine,23(1), 1–6.
Sanapo, L., Pruetz, J. D., Słodki, M., Goens, M. B., Moon-Grady, A. J., & Donofrio, M. T. (2017). Fetal echocardiography for planning perinatal and delivery room care of neonates with congenital heart disease. Echocardiography,34(12), 1804–1821.
Sheets, K. B., Crissman, B. G., Feist, C. D., Sell, S. L., Johnson, L. R., Donahue, K. C., …LaGrave, D. (2011). Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: recommendations of the national society of genetic counselors. Journal of Genetic Counseling, 20(5), 432-441.
Stevens, B. (2019). Impact of Emerging Technologies in Prenatal Genetic Counseling. Cold Spring Harbor Perspectives in Medicine. https://doi.org/10.1101/cshperspect.a036517.
Werner-Lin, A., Barg, F. K., Kellom, K. S., Stumm, K. J., Pilchman, L., Tomlinson, A. N., et al. (2016). Couple’s [sic] narratives of communion and isolation following abnormal prenatal microarray testing results. Qualitative Health Research,26(14), 1975–1987.
Wray, J., & Maynard, L. (2006). The needs of families of children with heart disease. Journal of Developmental & Behavioral Pediatrics,27(1), 11–17.
Zanello, E., Calugi, S., Sanders, L. M., Lenzi, J., Faldella, G., Rucci, P., et al. (2017). Care coordination for children with special health care needs: A cohort study. Italian Journal of Pediatrics,43(1), 18. https://doi.org/10.1186/s13052-017-0342-3.
Acknowledgements
This project was supported by an award from the Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities (CDCNBDDD), Cooperative Agreement (Grant No. CDC-RFA-DD10-100104CONT13). The content presented in this paper is solely the responsibility of the authors and does not necessarily represent the views of the Centers for Disease Control and Prevention.
Author information
Authors and Affiliations
Corresponding author
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Electronic supplementary material
Below is the link to the electronic supplementary material.
Rights and permissions
About this article
Cite this article
Marshall, J., Falope, O., Vijayakumar, N. et al. Family-Centered Management of Birth Defects Diagnosis and Referral in Hospital Settings in Florida. Matern Child Health J 24, 777–786 (2020). https://doi.org/10.1007/s10995-020-02914-6
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10995-020-02914-6