What is Newborn Screening?
Newborn Screening or NBS as it is commonly called, is the simple process of screening newborn babies for rare genetic, hormone-related and metabolic conditions that can cause serious health problems. Early screening allows doctors to diagnose affected babies quickly and start treatment as soon as possible.
Why should my baby be screened?
IEM Affects Anyone
IEM can affect any individuals regardless of ethnicity, age or gender.
No Symptoms
Some IEM diseases can’t be seen by just looking. Affected newborns may appear normal at birth.
Detect Early
Early detection followed by treatment can improve outcomes and help the babies live healthy lives.
Simple Test
More than 40 life-threatening metabolic diseases can be detected from just a few drops of blood.
1 in 3,000 Live Births
About 150 babies out of 500,000 Malaysian newborns* are affected with IEM yearly.
*Source: Salina et.al, 2008. Expanded Newborn Screening of Inborn Errors of Metabolism in Neonatal Dried Blood
Spots Using Tandem Mass Spectrometry in Malaysia.
Genetically Inherited
Newborns inherit defective genes from the parents who may be usually healthy but are actually carriers of the abnormal genes.
Standard of Care
Newborn screening has been adopted as a national program in many countries worldwide. It is an integral part of assessing health and well-being of every infant born.
FACT
The World Health Organisation (WHO) recommended that newborn screening be
mandatory when early
diagnosis and treatment can benefit children.
Adapted from:
World Health Organisation, 1998: Proposed International Guidelines on Ethical Issues in Medical Genetics
and Genetic Services.
How is Newborn Screening done?
A few drops of blood will be taken by pricking the baby's heel and sent to laboratory for testing. This is typically done before the baby leaves the hospital, usually at 1 or 2 days of age.
Blood sample should be taken after the first 24 hours of life. Ideally your baby should have at least one feed before the sample is collected. If your baby is discharged early, it is recommended to take a sample within 1 or 2 weeks.
Which screening tests are offered?
BabySafe tests for over 40 metabolic disorders such as Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD) to name a few. Metabolism is the process that converts food into energy that our body uses to move, think, and grow. Most metabolic problems happen when certain enzymes are missing or not working as they should.
We also provide testing for hormone problems such as Congenital Adrenal Hyperplasia (CAH) or haemoglobin problems like Sickle Cell Disease.
Amino Acid Disorders
- Phenylketonuria (PKU)
- Benign Hyperphenylalaninemia (H-PHE)
- Defects of Biopterin Cofactor Biosynthesis (BIOPT BS)
- Defects of Biopterin Cofactor Regeneration (BIOPT REG)
- Maple Syrup Urine Disease (MSUD)
- Citrullinemia Type I (ASA Synthetase)
- Citrullinemia Type II (Citrin Deficiency)
- Arginosuccinate Lyase Deficiency (ASA Lyase)
- Homocystinuria (HCY)
- Hypermethioninemia (MET)
- Transient Tyrosinemia of the Newborn (TTN)
- Tyrosinemia (TYR) Type I*, II, III
- Argininemia (ARG)
*There is a lower probability of detection of this disorder during the immediate newborn period.
Organic Acid Disorders
- Isovaleric Acidemia (IVA)
- Methylmalonyl-CoA Mutase Deficiency (MUT/MMA)
- Methylmalonic Acidemia (Cobalamin disorders): Cbl A, B
- Methylmalonic Acidemia with Homocystinuria: Cbl C, D
- Propionic Acidemia (PA)
- Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (BKT)
- 3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency (HMG)
- Isobutyryl-CoA Dehydrogenase Deficiency (IBG)
- 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MGB/SBCAD)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
- 3-Methylglutaconyl-CoA Hydratase Deficiency (3MGA)
- Glutaric Acidemia Type I (GA-I)
- Multiple-CoA Carboxylase Deficiency (MCD)
Fatty Acid Oxidation Disorders
- Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)
- 3-Hydroxy Long Chain Acyl-CoA Dehydrogenase deficiency (LCHAD)
- Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
- Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
- Short Chain Hydroxyacyl CoA Dehydrogenase Deficiency (SCHAD)
- Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or GA-II)
- Trifunctional Protein Deficiency (TFP)
- Carnitine/Acylcarnitine Translocase Deficiency (CACT)
- Carnitine Palmitoyl Transferase Deficiency Type I (CPT-I)*
- Carnitine Palmitoyl Transferase Deficiency Type II (CPT-II)
- Carnitine Update Defect (CUD)
Disorders Screened by other technologies:
- Galactosemia
- Congenital Adrenal Hyperplasia
- Biotinidase Deficiency
- G6PD Deficiency
- Congenital Hypothyroidism
- Cystic Fibrosis
- Sickle Cell Disease and non-sickle cell hemoglobinopathies
When Are the Results Ready?
What does the result mean?
If a diagnosis is confirmed, doctor might refer your baby to a metabolic specialist for more testing and treatment. When treatment is needed, it is important to start it as soon as possible. Treatment may include special formula, diet restrictions, supplements, medicines and close monitoring.