Newborn screening is a public health activity headed by the state health department aimed at the early identification of genetic conditions. Timely intervention for these disorders can lead to the elimination or reduction of morbidity, mortality, and disabilities. New technology (tandem mass spectrometry) has increased the number of disorders identifiable by newborn screening programs.
In 2005, the American College of Medical Genetics (ACMG) recommended 29 diseases to be included in all newborn screening programs. Screening tests do not primarily determine disease status, but measure substances which in most cases are not specific for a particular disease. Since 2004, in Maryland, each newborn is screened for 52 disorders.
Many parents feel they, as well as their health care providers, lack adequate information on newborn screening. Delayed follow up testing and poorly communicated test results generates increased parental stress.
The Johns Hopkins Institute of Genetic Medicine Abnormal Newborn Screening Follow-Up Program offers state of the art diagnostic testing. We provide rapid evaluation by professionals trained in genetic disorders who can answer your questions regarding your child's abnormal results and possible disorder. We have an efficient, sensitive protocol for communicating results and providing follow up to the parents, pediatrician and state as required by law.
Our team is comprised of world renowned geneticists who serve on boards of Genetic Medicine organizations:
- Dr. Ada Hamosh, Clinical Director, is the Chair of the Maryland State Advisory Council on Hereditary and Congenital Disorders
- Dr. David Valle, Director of the Institute of Genetic Medicine, is Past-President of the American Society of Human Genetics
- Dr. Lisa Kratz, Director of the Biochemical Genetic Laboratory at the Kennedy Krieger Institute and is the Director of The Clinical Biochemical Genetics Training Program at Johns Hopkins University. Dr. Kratz not only performs genetic testing with a rapid turn around time, but is available for consultation to healthcare professionals seeking guidance in testing.
We have a team of genetic counselors available to provide guidance to parents of newly diagnosed children with genetic disorders.
For an appointment, please call 410-955-3071.