• English

    Google Translate Disclaimer

    The Maryland Department of Information Technology (“DoIT”) offers translations of the content through Google Translate. Because Google Translate is an external website, DoIT does not control the quality or accuracy of translated content. All DoIT content is filtered through Google Translate which may result in unexpected and unpredictable degradation of portions of text, images and the general appearance on translated pages. Google Translate may maintain unique privacy and use policies. These policies are not controlled by DoIT and are not associated with DoIT’s privacy and use policies. After selecting a translation option, users will be notified that they are leaving DoIT’s website. Users should consult the original English content on DoIT’s website if there are any questions about the translated content.

    DoIT uses Google Translate to provide language translations of its content. Google Translate is a free, automated service that relies on data and technology to provide its translations. The Google Translate feature is provided for informational purposes only. Translations cannot be guaranteed as exact or without the inclusion of incorrect or inappropriate language. Google Translate is a third-party service and site users will be leaving DoIT to utilize translated content. As such, DoIT does not guarantee and does not accept responsibility for, the accuracy, reliability, or performance of this service nor the limitations provided by this service, such as the inability to translate specific files like PDFs and graphics (e.g. .jpgs, .gifs, etc.).

    DoIT provides Google Translate as an online tool for its users, but DoIT does not directly endorse the website or imply that it is the only solution available to users. All site visitors may choose to use alternate tools for their translation needs. Any individuals or parties that use DoIT content in translated form, whether by Google Translate or by any other translation services, do so at their own risk. DoIT is not liable for any loss or damages arising out of, or issues related to, the use of or reliance on translated content. DoIT assumes no liability for any site visitor’s activities in connection with use of the Google Translate functionality or content.

    The Google Translate service is a means by which DoIT offers translations of content and is meant solely for the convenience of non-English speaking users of the website. The translated content is provided directly and dynamically by Google; DoIT has no direct control over the translated content as it appears using this tool. Therefore, in all contexts, the English content, as directly provided by DoIT is to be held authoritative.

    Newborn Metabolic Screening


    The State of Maryland and the Office for Genetics and People with Special Health Care Needs are dedicated to screening newborn infants for conditions that can cause serious illness, developmental delays, and even death if not detected in the first few weeks of life.
    In 1965, Newborn Metabolic Screening using dried blood spots was started to determine if babies have a condition called Phenylketonuria or PKU for short. PKU is a metabolic disorder that causes major developmental delays if too much protein is eaten. Since 1965, over 250 babies in Maryland have been identified with a form of PKU.
    Although the Newborn Metabolic Screen is still commonly called the “PKU” test, the testing has been expanded to include over 50 different conditions. These conditions include:
    • Inability to break down the sugar in breast milk and most formulas
    • Inability to break down different proteins
    • Inability to break down different fats for energy
    • Inability to fight infections (severe combined immunodeficiency disorders)
    • Presence of abnormal red blood cells or sickle cell disease
    • Abnormal thyroid function (congenital hypothyroidism)
    • Abnormal adrenal glands (congenital adrenal hyperplasia)
    • Cystic fibrosis
    Four additional conditions have recently been added to the Maryland Newborn Screening Panel.  These conditions include:
    • Spinal Muscular Atrophy (SMA) - screening start date of May 30, 2019
      • Condition causing loss of motor neurons that leads to progressive muscle weakness and atrophy
    • Pompe (Glycogen Storage Disease Type II) - screening start date of June 17, 2019
      • Condition in which glycogen builds up in the cells and leads to progressive muscle weakness, breathing problems and can affect the heart
    • Mucopolysaccharidoses Type I (MPS-I) – screening start date of June 17, 2019
      • Condition in which very large sugar molecules accumulate in the cells and cause cell enlargement and dysfunction
    • Fabry Disease – screening start date of June 17, 2019
      • Condition in which glycosylsphingolipids ( a form of lipid) are deposited in tissues throughout the body, especially in the kidneys, heart and brain
    The newborn screening laboratory is also making preparations to begin screening for another disorder that has been approved for addition to the Maryland Newborn Screening Panel.  
    •  X-linked Adrenoleukodystrophy (X-ALD or ALD)
      • Condition in which very long chain fatty acids cannot be broken down.  These fats build up in the body and primarily affect the nervous system and adrenal glands.  X-linked conditions affect males more severely, but women carriers can suffer symptoms in adulthood. 
    Check back for more information regarding this disorder and when it will be included on the Maryland newborn screening panel. 

    The goal of newborn metabolic screening is to identify babies who may have one of these conditions as soon as possible to help prevent problems. Babies who are born and live in the State of Maryland are screened in the hospital 24-48 hours after birth and again in their pediatrician’s office at about 2 weeks of age.

    To learn more about newborn metabolic screening, click on the links below.

    For Parents

    For Providers


    Newborn Screening Legislation

     Office For Genetics And People With
    Special Health Care Needs
    201 West Preston Street - Baltimore, MD 21201
    Tel (410) 767-6730   Fax (410) 333-5047

     June, 2020

    NBS Highlights

    Newborn Metabolic Screening is celebrating 50 years of screening
    newborn babies across
    the country!
    The first condition included in Newborn Metabolic Screening was Phenylketonuria or “PKU” which is why many people still refer to the Newborn Metabolic Screen as the “PKU test”.

    Newborn Screening

    Follow-up of Abnormal Results:

    Chief, Newborn Screening Follow-Up Program:
    Johnna Watson, RN,BSN
    Nurse Consultants:
    Monique Veney, RN, MSN


    If a Parent Refuses NBS for Their Baby 

    This refusal must be documented in writing with a parent’s signature indicating they have been informed of the risks and benefits of newborn bloodspot screening and have chosen not to have their baby tested.
    Click here for the form: REFUSAL FORM
    (If your hospital has approved your own refusal form this may be substituted)
    The NBS Follow-Up Unit must also be notified within 12 hours of refusal.  We will contact the family and discuss risks and benefits of newborn bloodspot screening.  Please call 443-681-3916 or fax refusal form to 443-681-4505.