Research Spotlight: Genetic Testing Practices, Indications and Results in Patients with Down Syndrome
Stephanie L. Santoro, MD, is the senior author of a recent study published in the American Journal of Medical Genetics, Part C.
Patient EducationJan | 24 | 2019
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Rev. 9/2017. Mass General for Children y Massachusetts General Hospital no promocionan ninguna de las marcas que figuran en este folleto, cuyo único objetivo es brindarle información de salud para que esté mejor informado. Este folleto no reemplaza el asesoramiento médico y no se debe utilizar para tratar ninguna afección médica.
Patient resources for the Down Syndrome Program.
Stephanie L. Santoro, MD, is the senior author of a recent study published in the American Journal of Medical Genetics, Part C.
Researchers found that limited English proficiency, a lack of health information translated into Spanish, and systemic racism often undermines care of patients with Down syndrome.
This study found that 78% of white families received early referrals to a Down Syndrome support group in Ohio compared to 9% of minority families.
Stephanie Santoro, MD, was the lead author of a recent article in the Journal of Pediatrics, titled Health Surveillance in a Down Syndrome Specialty Clinic: Implementation of Electronic Health Record Integrations During the Coronavirus Disease 2019 Pandemic
Brian Skotko, MD, MPP, from the Mass General Down Syndrome Program and colleagues recently published a literature review in the European Journal of Human Genetics, titled Down syndrome screening and diagnosis practices in Europe, United States, Australia, and New Zealand from 1990–2021.
Researchers from Mass General for Children and colleagues have learned more about the effect of selective terminations on birth prevalence and population prevalence of people with Down syndrome in Australia and New Zealand.