Wintergerst, Kupper A.Eugster, EricaAndruszewski, KarenKleyn, MaryVanderburg, NancySockalosky, JoeMenon, RamLinard, SharonKingery, SuzanneRose, Susan R.Moore, JulieGembel, GinaGorman, Lisa2019-10-022019-10-022018-06Wintergerst, K. A., Eugster, E., Andruszewski, K., Kleyn, M., Vanderburg, N., Sockalosky, J., … Gorman, L. (2018). Congenital Hypothyroidism 3-Year Follow-Up Project: Region 4 Midwest Genetics Collaborative Results. International Journal of Neonatal Screening, 4(2), 18. https://doi.org/10.3390/ijns4020018https://hdl.handle.net/1805/21012To identify the 3-year follow-up management and education patterns of primary care clinicians and pediatric endocrinologists for children diagnosed with congenital hypothyroidism (CH) through newborn screening programs, the Region 4 Midwest Genetics Collaborative, made up of seven regional states (Illinois, Indiana, Kentucky, Michigan, Minnesota, Ohio, Wisconsin), performed a survey study of parents and physicians caring for children identified with CH. The clinicians and parents of 409 children with CH regionally identified in 2007 were invited to participate in a voluntary survey. Responses relating to treatment, monitoring practices, educational resources, genetic counseling, and services provided/received were collected from 214 clinicians and 77 parents. In total, 99% had undergone a confirmatory test following positive newborn screening and 55% had imaging at diagnosis, but only 50% were identified as having the etiology identified. Thyroid withdrawal challenge testing was the choice method for re-evaluating thyroid function, but the approach varied. Clinician and parent responses to education and genetic counseling also differed. Clinicians report face-to-face education as the most common method, with less than 50% providing handouts to patients. Only 14% of patients were referred to a genetics counselor. Of parents reporting on their educational experience, 86% received face-to-face education from a pediatric endocrinologist and 4% received education from a genetic counselor. Only 65%, however, were satisfied with their education. These survey data suggest a lack of a standardized approach to diagnosis, follow-up, education, and genetic counseling. This collaborative effort provides insight into developing three-year follow-up, education and genetic counseling guidelines for children diagnosed with CH.en-USAttribution 3.0 United Statescongenital hypothyroidismthyroidnewbornneonatalscreeningArticle