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 EducationJul | 5 | 2019
Leukemia is a type of cancer that affects a person’s white blood cells. Leukemia causes the body to make large numbers of abnormal (not normal) blood cells called blasts. When there are too many blasts in a person’s body, they develop leukemia.
Yes. Children who have Down syndrome are slightly more likely to develop leukemia than other children of the same age and developmental stage. But the chance of a child with Down syndrome developing leukemia is very low.
There are no screening tests for leukemia. Instead, doctors test for leukemia through a blood test if a child has some of the symptoms.
Cancer doctors (also called hematologists or oncologists) treat cancer with chemotherapy. Chemotherapy drugs help lower the number of blast cells in the body. Children who have Down syndrome can be more sensitive to side effects of chemotherapy. The doctor will adjust the chemotherapy to limit the side effects while still getting the best benefits.
Rev. 8/2017. This webpage is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.
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.
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