Baby First

Newborn Screening

Blood tests for disorders vary by state. Ordering extra testing is often an option.

by Margarette Burnette

Newborn screening, a simple blood test performed on all hospital-born infants, can give parents early, vital information. Although mandatory, screenings vary from state to state, and some new parents arrange for additional testing.

While the term “newborn screening” may seem daunting, the process is actually quite simple. At about 48 hours old, infants are pricked on the heel to obtain a blood sample, which is sent to a state laboratory for testing.

Phenylketonuria (PKU) is the most widely screened disorder. Since the 1960s, all U.S. babies have been tested for PKU. In recent years newborn screening has been expanded to cover a range of conditions. Pennsylvania screens newborns for six disorders, while Delaware screens for 13 and New Jersey for about 20. (See chart for some of the screened conditions.)

Given the rarity of the conditions that are screened for, the likelihood of a child having a positive result is slim. Still, screening is an essential act that can lead to early treatment if a disorder is detected and prevent parents from being caught unaware later in their child’s life.

Some parents are hesitant to screen their newborn. If the screening does produce a positive result, experts emphasize that parents should keep calm. False positives occur, so the next step is a re-test. Even if a second test confirms that the infant has a disorder, most of the conditions that are screened can be managed effectively if identified early. Treatments may include medication or diet modification.
WHAT IS BEING SCREENED
Screening is free in Pennsylvania, while it costs $71 in New Jersey and $78 in Delaware. The chart that follows shows some of the conditions that are screened, what threats they pose and which states screen for them.
Condition
How Frequent Is It?
Who Screens For It?

Amino Acid
Metabolism Disorders
1 in 20,000
DE

What Is It?

Group of conditions in which child cannot
effectively process amino acids.
Biotinidase
Deficiency
1 in 60,000
DE, NJ

Infants cannot process the vitamin biotin in a normal manner. Treatment can prevent seizures, hearing loss and delays in development.
Congenital Adrenal Hyperplasia (CAH)
1 in 12,000
DE, NJ, PA		 Adrenal glands do not produce normal amounts of certain hormones. If untreated, serious loss of body salt and water, and even death, may occur.
Congenital
Hypothyroidism (CH)
1 in 4,000
DE, NJ, PA		 Occurs when the body does not make enough
thyroid hormone. Can cause mental retardation, abnormal growth, deafness and neurological problems if untreated.
Cystic Fibrosis
1 in 3,900*
NJ		 Causes mucus to collect in lungs and intestines.
Results in breathing problems, lung infections and poor digestion.
Fatty Acid Oxidation (FAO) Disorders
1 in 15,000
DE, NJ		 Makes it difficult to convert fat to energy. Can lead to vomiting, low blood sugar or even coma if child goes without eating for extended period.
Galactosemia
1 in 45,000
DE, NJ, PA		 Occurs when body cannot use part of milk sugar called galactose. Can lead to mental retardation, developmental disabilities or death if untreated.
Hemoglobinopathies
1 in 400 (In Children of African Descent).
DE, NJ, PA

Group of disorders in which red blood cells are malformed. Increases likelihood of anemia, episodes of severe pain and infections.

Homocystinuria
1 in 70,000
DE

 Disorder in which body cannot break down a specific amino acid. If untreated can lead to delayed development and death.
Maple Syrup Urine Disease (MSUD)
1 in 40,000
DE, NJ, PA		 Rare disorder in which body cannot break down certain proteins found in foods, including breast milk and formula.
Organic Acid
Disorders
1 in 20,000
DE, NJ		 Family of disorders that result in child being unable to remove certain waste products from blood. Can lead to vomiting, low blood sugar, developmental delays and coma.
Phenyketonuria (PKU)
1 in 15,000
DE, NJ, PA		 Causes inability to break down a substance called phenylalanine. If untreated, this disorder can cause mental retardation, seizures and developmental delays.
Urea Cycle Disorders
1 in 10,000**
NJ
 Metabolic problems leading to excessive amounts of ammonia in the blood. Can lead to behavioral problems, mental retardation, coma and even death if untreated.