Down Syndrome Clinic
 

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The Medical Genetics and Neurodevelopmental Center at St. Vincent Hospital offers evaluations and management for individuals at-risk for or affected by a genetic condition or birth defect. We are staffed by a medical geneticist and two board-certified genetic counselors. Occupational and physical therapy are on staff to evaluate children with developmental concerns.

The services we offer in our Medical Genetics clinic include:

  • Evaluation of individuals (children and adults) with:
    • Genetic conditions
    • Dsymorphic or unusual features
    • Birth defects
    • Developmental delay
    • Neuromuscular disorders
    • Pervasive developmental disorders (autism, ADHD)
    • Failure to thrive
  • Family history assessment
  • Diagnosis of syndromes (when possible)
  • Recurrence risk assessment
  • Information and support resources
  • Management
  • Inpatient consults
  • Genetic assessment after stillbirths and fetal loss

 

An appointment in the Medial Genetics clinic typically takes 1.5 to 2 hours. A complete medical and family history is taken. A careful physical exam is completed to assess for any features of a recognizable genetic syndrome. Based on the information gathered at the appointment, we provide the family with a differential diagnosis, information about available testing, management and preventative care. We arrange for follow-up and referrals if necessary. In addition, genetic counseling provides prognostic information, recurrence risks, and support resources.

In addition to our Medical Genetics clinic, we have three specialty clinics. The Down Syndrome Clinic focuses on the prevention and early detection of medical and developmental issues associated with Down syndrome with a multidisciplinary approach. The Cancer Genetics Program offers genetic counseling and genetic testing to assess risk for familial cancer. A multidisciplinary Marfan Clinic will be available in March 2003.

To schedule an appointment in the Medical Genetics Clinic, please contact our office at (317) 338-5288.
Staff:
Luis F. Escobar, MD
Director, Medical Genetics

Deborah Lane, MS, CGC

Genetic Counselor


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