Abnormal Newborn Screening Program


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 geneticists, genetic counselors, nurses and nutritionists who provide ongoing comprehensive and quality care. Please contact our main clinic office at 410-955-3071 if you have questions.

General information about Newborn Screening

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 over fifty 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.

Appointments and Referrals