Newborn Screen

newborn screen

Before your baby leaves the hospital, a few drops of blood will be drawn from your
infant’s heel. This is to test for a series of genetic diseases.

We don’t test for these diseases because they are so common. In fact, they are very uncommon. We test for them because they are treatable. If these diseases are found early, treatment can prevent serious consequences.

The table below gives information about these disorders and their treatments. Most of the diseases require a very specialized diet to prevent buildup of toxic substances that an affected individual cannot use properly. Some require special vitamins, and a few require medication, such as hormone replacement (for example, hypothyroidism requires thyroid hormone replacement).

One thing to remember is that these tests are screens. This means that they are very sensitive at detecting the diseases in question. It also means that they are sometimes too sensitive, and a positive test does not


necesssarily mean that the baby has the disease.  A positive test means that further blood will need to be obtained to confirm the possible diagnosis.

The Department of Health has a very good method for informing us if your baby’s screen is positive. Then, we arrange for further testing.  It is always wise to keep us on our toes and make sure that we have indeed received the results of your new baby’s screen. We should have the results in about two weeks and if the result is not back by then, we have staff members at each office whose job it is to track them down. 

As you can imagine, this is a huge task, at the state level as well as in our offices. We always welcome a reminder at your baby’s newborn exam or the 2 month exam to make sure that the screen has indeed been received.
What are these rare diseases?
How often does this happen?
If this is not treated, what happens?
Is it
inherited?
How is it treated?
Phenylketonuria (PKU) is caused when the body does not absorb certain proteins.
One in every 12,000 births
Severe developmental delay.
Yes
Using a special diet
Galactosemia is caused by the body not absorbing milk sugar.
One in every 50,000 births
Severe developmental delay, eye problems (cataracts), liver damage, death.  
Yes
Using a special diet
Hypothyroidism is caused by a defect in the developing thyroid gland.  Can be present at birth or develop later.
On in every 4,000 births
Severe developmental delay, small body size.
Not usually
Medicine-
Thyroid hormone
Hemoglobinopathy  is caused by errors in the red blood cells.  Sickle cell is the most common but there are many others.
One African-American baby in 500 has sickle cell. 
Sickle cell may cause anemia, pain and death
Yes
Medicine- penicillin for sickle cell disease
Adrenal Hyperplasia is caused by a defect in the adrenal gland.
One is every 15,000 births
Abnormal sexual development, hormone problems, death.
Yes
Medicine- hormone pills
Fatty Acid Oxidation Disorders occur when the body cannot digest fat normally.
One in every 10,000 births
A range of symptoms that need medical follow-up by a specialist.
Yes
In most cases using a special diet.
Organic Acid Disorders are caused when the body cannot digest protein properly.
One in every 10,000 births
A range of symptoms that need medical follow-up by a specialist.
Yes
In most cases using a special diet.
Cystic Fibrosis is caused by a genetic abnormality that causes the production of thick mucus and salty sweat.
One in every 3,200 births
Problems with breathing and digestion, gaining weight
Yes
High calorie diet,  special vitamins