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.