Newborn Screening

Newborn Screening:

Newborn screening helps identify serious but rare health conditions at birth.

Ideally it should be Universal, ie all babies must be offered screening tests before they leave the hospital. But due to some constraints we have kept this facility optional. After adequate information and counseling, it is left to the parents’ choice and decision.

Most newborn screening test results are normal. If a result is not normal, your baby gets a different kind of test called a diagnostic test.

Health conditions that are found early with newborn screening often can be treated.

Early treatment is important, because it may help prevent more serious health problems for your baby.

What is newborn screening?

When your baby is 1 to 2 days old, he has some special tests called newborn screening.

Newborn screening checks a baby for serious but rare and mostly treatable health conditions at birth. It includes blood, hearing, eye check- up and heart screening.

Your baby can be born with a health condition but may not show any signs of the problem at first. If a health condition is found early with newborn screening, it often can be treated. Early treatment is important, because it may help prevent more serious health problems for your baby.

When is newborn screening done?

Your baby gets newborn screening before she leaves the hospital after birth, when she’s 1 to 2 days old.

How does newborn screening happen?

There are three parts to newborn screening:

Blood test.

Most newborn screening is done with a blood test to check for rare but serious health conditions. A trained nurse pricks your baby’s heel to get a few drops of blood. She collects the blood on a special paper and sends it to a lab for testing. Blood test results are usually ready by the time your baby is 5 to 7 days old.

Hearing screening:

This test checks for hearing loss. For this test, your provider places tiny earphones in your baby’s ears and uses special computers to check how your baby responds to sound.

Heart screening:

This test is used to screen babies for a group of heart conditions called critical congenital heart defects (also called critical CHDs or CCHDs). It uses a simple test called pulse oximetry. Pulse oximetry checks the amount of oxygen in your baby’s blood by using a pulse oximeter machine and sensors placed on your baby’s skin.

Cataract Screening:

With an instrument called ophthalmoscope, baby’s lens is checked for signs of congenital cataract. If this is missed, it can lead to blindness .

What if newborn screening results aren’t normal?

Most newborn screening results are normal. If your baby’s screening results aren’t normal, it may simply mean she needs more testing. Your baby’s pediatrician then recommends another kind of test, called a diagnostic test, to see if there is a health problem. If the diagnostic test results are normal, no more testing is needed. If the diagnostic test results are not normal, yourpediatrician can guide you about next steps for your baby.

If one of your children has a health condition, will another have it, too?

Many of the health conditions found by newborn screening are inherited. Inherited means something that is passed from parent to child through genes. Genes are a part of your body’s cells that store instructions for the way your body grows and works.
When one child in a family has an inherited health condition, the chance of a brother or sister having the same condition is higher than if no child in the family has the condition.
If you have a child with a health condition and you want to have another baby, talk to your doctor or a genetic counselor. A genetic counselor is a person who is trained to help you understand about genes, birth defects and other medical conditions that run in families, and how they can affect your health and your baby’s health.
Sometimes hearing loss is not inherited. For example, it can be caused by an infection during pregnancy. In this case, it usually doesn’t happen in another pregnancy.

Newborn screening tests may include:

• Phenylketonuria (PKU). PKU is an inherited disease in which the body cannot metabolize a protein called phenylalanine.
• Congenital hypothyroidism.
• Galactosemia.
• Sickle cell disease.
• Maple syrup urine disease.
• Homocystinuria.
• Biotinidase deficiency.
• Congenital adrenal hyperplasia.

If you still need more information, please talk to the doctor in the next visit.