Maternity Packages

Why is My Baby Tested?

The purpose of the testing is to ensure your baby’s health. The Newborn Screening Program identifies babies who may have certain disorders, allowing for early diagnosis and medical treatment to prevent serious illness.

How and when is My Baby Tested?

Every baby born in the hospital will receive a form for neonatal screening, along with an information leaflet. The parents will be informed about the procedure of the testing. Testing is conducted on the third day after birth (more than 48 hours). A small blood sample is collected via a heel prick and placed on a special filter paper. This process is minimally painful, similar to a pinprick.

What Disorders Can Newborn Screening Identify?
The program screens for several conditions:

Metabolism Disorders (Tandem Mass Spectrometry):

• Amino Acid Disorders: Phenylketonuria (PKU), Maple Syrup Urine Disease, Citrullinemia Type I, Argininosuccinic Aciduria. These can cause seizures and brain damage, preventable with a special diet.
• Organic Acid Disorders: Propionic Acidemia, Methylmalonic Acidemia, Isovaleric Acidemia, among others. These can lead to coma if untreated.
• Fatty Acid Disorders: Medium Chain Acyl Co-A Dehydrogenase Deficiency (MCAD). This prevents the use of certain fats for energy, leading to breathing issues, seizures, and potentially heart failure.
• Endocrine Disorders:
  • Congenital Hypothyroidism: Impaired thyroid function causing mental retardation and slow growth, preventable with thyroxin pills.
  • Congenital Adrenal Hyperplasia (CAH): Deficiency in cortisol and aldosterone production, leading to dehydration and hormonal imbalance. Treated with hormone replacement.
• Sickle Cell Hemoglobinopathies:
  • Sickle Cell Disease (HB S/S), S-Beta Thalassemia: Causes painful crises and increased infection risk, managed with penicillin and immunizations.
• Other Disorders:
  • Biotinidase Deficiency (BIO): Inability to use biotin, leading to growth issues, muscle weakness, and other complications. Treated with a special form of biotin.

Frequently Asked Questions

But my baby seems healthy. Are the tests still needed?
Yes, many infants with these conditions show no signs immediately after birth. Early detection is crucial for preventing irreversible damage.
How does a baby get one of these disorders?
Most disorders are inherited from both parents, who typically show no signs of the disorder. Hypothyroidism's cause is often unknown, though it can be inherited.
How soon will I know the results?
Results are generally available within ten days. Parents are typically notified only if there is a problem.
What if I am told that a “retest” is necessary?
A retest may be needed for various reasons and doesn’t necessarily indicate a problem. If requested, please act promptly.
What if my baby has one of these disorders? Is there a cure?
While these genetic disorders cannot be cured, early treatment can control and often prevent serious effects. Treatment usually involves a special diet or medication, and referrals for further care will be arranged.
If this child has a disorder, will my future children also have it?
This depends on the specific diagnosis and can be best addressed by a genetic counselor.

Give Your Baby a Healthy Start with Newborn Screening at RAK Hospital