Newborn Bloodspot Screening Program

Disease Descriptions for Parents

This program identifies and follows-up on newborn babies with any one of 54 rare and serious disorders of body chemistry. Most of these disorders cause mental retardation or severe medical problems unless treated right away. Treatment for some disorders is very effective and babies that are treated do very well. Some of the disorders recently added to the program are less well understood and treatment may not be as effective. The OGCSHCN provides follow-up for all babies with abnormal test results. We follow the babies who actually do have one of these disorders long term, providing case management and working with the babies' doctors, as well as providing counseling, health education and family support to affected families. All babies born in Maryland, over 70,000 annually, are eligible for this service. We also accept specimens on babies born out of state to Maryland residents. There is a one time $70.00 laboratory charge per baby. This is billed to the hospital of birth. No baby is ever refused testing for inability to pay. The hospital is not charged for testing if the family is unable to pay.

Maryland implemented “expanded” screening using tandem mass spectrometry in 2003 and added cystic fibrosis to the screening panel in 2006. Maryland screens for all the disorders recommended by the American College of Medical Genetics and the March of Dimes.

What is a disorder of body chemistry?

The body uses the foods we eat to make energy and to grow and build body tissues, like muscle, brain, blood and bone. In order to do this the body must convert one naturally occurring substance or chemical to another. This is a complicated process. The body does this in a series of steps. The body uses natural helper chemicals, called enzymes, to perform each step of the conversion. Most disorders of body chemistry are caused by the lack of an enzyme. The body uses the proteins (made up of amino acids), fats, and carbohydrates (sugars and starches) in food to make energy. The body may have problems using any one of these substances. Something can go wrong at each step of the process. The body also has to transport substances around the body and in and out of cells. Something can go wrong in these processes as well. The Newborn Screening Program looks for babies with several groups of disorders of body chemistry (51 disorders in all).

Disorders Involving Amino Acids – Amino Acid Disorders, Organic Acidurias and Urea Cycle Disorders

Amino Acid Disorders

Amino acids are the building blocks that make up the proteins in food. Some disorders are caused by the body’s inability to use a single amino acid or a group of amino acids. Since the body can’t use them properly, these amino acids can build up to dangerous levels in the body and can damage the brain or the liver or other organs. With some disorders, the baby will get very sick very fast but with other disorders, the problem would not be noticed until the parents see that the baby is not developing properly. The 3 amino acid disorders included in the Maryland Newborn Screening Program are:

• PKU
• Homocystinuria
• Tyrosinemia

Organic Acidurias

Some amino acids have a branched structure. An inability to use these amino acids results in the build up of their products, organic acids, in the blood. The organic acids are also found in the urine. These disorders are called the Organic Acidemias or Organic Acidurias. The organic acidurias in the Maryland Newborn Screening Program include:

• BCK (branch chain ketoaciduria) also called MSUD (maple syrup urine disease)
• Biotinidase Deficiency
• Glutaric Acidemia Type I (GA I)
• 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (HMG CoA Lyase Deficiency)
• Isobutyryl-CoA Dehydrogenase Deficiency
• Isovaleric Acidemia  (IVA)
• 2-Methylbutyryl-CoA Dehydrogenase Deficiency
• 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC Deficiency)
• 3-Methylglutaconyl-CoA Hydratase Deficiency
• Methylmalonic Acidemia (MMA)
• Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (3-Ketothiolase Deficiency)
• Multiple Carboxylase Deficiency
• Propionic Acidemia (PA or PPA)

Urea Cycle Disorders

All amino acids contain the element nitrogen. The body must dispose of nitrogen or it will build up as ammonia in the blood and make the baby very sick. The body disposes of nitrogen by changing it into a substance called urea, which leaves the body through the kidney in the urine. Problems in disposing of nitrogen are called Urea Cycle Disorders. The 3 urea cycle disorders included in the Maryland Newborn Screening Program are:

• Argininosuccinic aciduria
• Argininemia
• Citrullinemia

Disorders Involving Fats – Fatty Acid Oxidation Disorders

The body usually gets energy from sugar, amino acids and fat. The body uses the sugar first. When the sugar is gone the body can make a little more sugar from any spare amino acids (from proteins). But when the sugar is all used up, the body must use the fat. This is especially necessary when the baby is not eating (fasting). The enzymes needed to get energy from fats are different from those used to get energy from sugars. Energy is released from fats by a process called oxidation. Problems in getting energy from fats are called Fatty Acid Oxidation Disorders. The fatty acid oxidation disorders in the Maryland Newborn Screening Program include:

• Carnitine Uptake Disorder
• Carnitine/Acylcarnitine Translocase Deficiency
• Carnitine Palmitoyl Transferase I Deficiency (CPT I Deficiency)
• Carnitine Palmitoyl Transferase II Deficiency (CPT II Deficiency)
• Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)
• Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
• Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or Glutaric Acidemia II)
• Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
• Short Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (SCHAD)
• Trifunctional Protein Deficiency (TFP Deficiency)
• Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)

Disorders Involving Carbohydrates (Sugars and Starches)

Milk is a baby’s first food. The Newborn Screening Program finds babies who can’t use galactose, one of the sugars in milk. This disorder known as Galactosemia can be caused by a lack of any of 3 enzymes.

• Galactosemia

Disorders Involving Hormones (Endocrine Disorders)

Hormones are natural chemicals made by the endocrine glands in the body. Hormones help regulate body chemistry and body processes. The 2 endocrine disorders included in the Maryland Newborn Screening Program are:

• Congenital Adrenal Hyperplasia (CAH)
• Hypothyroidism

Hemoglobin Disorders

Hemoglobin is the red substance in the blood that carries oxygen around the body. There are many hemoglobin disorders. However, the Maryland Newborn Screening Program screens primarily for Sickle Cell Disease, which is a group of disorders.

• Sickle Cell Disease

Cystic Fibrosis

What is Cystic fibrosis?

Cystic fibrosis (CF) is a disorder inherited from both parents in which salt and water movement into and out of cells is not normal.  This leads to increased salt in the sweat that can be measured to diagnose CF.  There is also thicker than normal mucus.  This leads to chronic lung infections, digestion problems, and poor weight gain.  The name cystic fibrosis refers to changes in the pancreas from mucus obstruction.

Although there is no cure, early diagnosis and treatments can lead to improved growth, fewer complications, and better overall health.  Common treatments include vitamins, pancreatic enzyme supplements, antibiotics, and bronchodilators.  CF occurs approximately 1 in 3500 births.  It can affect all races and ethnicities.

Some children with CF will have no symptoms and others will have symptoms similar to asthma and GI reflux.  These include chronic coughing or wheezing, spitting up, loose stools, change in appetite, or poor weight gain.  If one child in a family has CF, it is possible that other children will also have CF.

A child can have CF even if the newborn screening test is normal (5-10% of people with CF will have a normal screen).  CF carrier testing can tell if people are at risk to have a child with CF.  This is offered to many pregnant women.  However, carrier testing is also not 100% sensitive, so a child can have CF even if a parent had a normal carrier test.
For more information, contact:

• The Maryland Department of Health and Mental Hygiene
  Phone:  410-767-6730
• The Cystic Fibrosis Foundation
  Phone:  1-800-FIGHT CF (344-4823) or 1-301-951-4422
• The Johns Hopkins CF Center
  Phone:  410-955-2795

Abormal Cystic Fibrosis (CF) Newborn Screening Test

The CF newborn screening test is abnormal when the IRT (immunoreactive trypsinogen) level is increased in blood samples taken in the immediate newborn period and in a subsequent sample taken at about two weeks of age.

An abnormal screen means there is a 1 in 10 chance that a baby has CF.  Conversely, 9 out of 10 babies with abnormal screens do not have CF.  Many babies with CF have no symptoms.

To find out if a baby has CF, a ‘sweat test’ should be done within the next week.  A sweat test involves collecting sweat from the baby and measuring the salt in the sweat in the laboratory.  Sweat test results can be faxed to the baby’s doctor the next business day after the test is completed.  If the sweat test is normal (< 30mmol/L), using the proper method, then we can be confident that the baby does not have CF and no further evaluation is necessary.
A sweat test (using the CF Foundation approved pilocarpine iontophoresis method) can be arranged by calling one of the following hospitals:

For families for whom it may be more convenient, testing is also available in the following neighboring states:

Abnormal Sweat Test

If the sweat chloride is greater than 30 mmol/L, then the baby should be evaluated by at pediatric lung specialist.  The specialist will examine the baby, repeat the sweat test, do additional laboratory studies, and make treatment recommendations.  Care for infants with cystic fibrosis is available at the following centers:

For families whom they may be more convenient, care is also available in the following centers certified by the Cystic Fibrosis Foundation in neighboring states:

(Revised: 6/08)

There are 2 booklets and a video about the Maryland Newborn Screening Program.

Your Baby’s First Test (video)
Your Baby’s First Test (very brief booklet)
Your Baby's First Test (Spanish Version)
Screening Tests for Your Baby (more detailed booklet)