What Are Some Types of Newborn Screenings?
- Expanded Newborn Screening
Inherited metabolic disorders are genetic conditions that result in severe mental disability or death if not treated in an early stage. This group of diseases is very rare and there are no specific symptoms which make it hard to notice, thus delay the diagnosis and treatment. - Congenital Hypothyroidism (CH) or thyroid hormone deficiency present at birth is common disease among newborn, about 1 in every 3,000-4,000 babies. If left untreated, it will delay their development of body and mental.
- Micro Bilirubin, Hematocrit, ABO and RH Blood Group
- Critical Congenital Heart Disease Screening
- Hearing Screening Test – ABR by Audiologist
What are Inherited Metabolic Disorders?
Inherited metabolic disorders are genetic conditions that result in severe disability and developmental delay in babies. Because they are recessive traits that will reappear frequently in the same affected family. Some can be treated and some can prevent disabilities. However, because they are rare with no specific symptoms, treatment may be delayed. Thus, newborn screening is necessary to diagnose and start treatment when there are no or minimal symptoms. This can prevent death or mental disability.
What Are the Symptoms of Inherited Metabolic Disorders?
Since inherited metabolic disorders are rare diseases, it is hard to diagnose as they have many different non – specific symptoms such as:
- Lethargy
- Poor feeding
- Vomit
- Seizure
- Abnormal breathing
What Is Expanded Newborn Screening?
It increases the screening panel of disorders to 30 – 40 diseases such as:
- Amino Acid Disorders such as Phenylketonuria (PKU), Hyperphenylalaninemia, Biopterin Cofactor Deficiencies, Maple Syrup Urine Disease (MSUD), Homocystinuria, Hypermethioninemia, Tyrosinenia Type l, ll, lll, Citrullinemia, Argininosuccinic Aciduria, etc.
- Organic acid disorders such as Methylmalonic Acidemia (MMA), Adenosylcoballamin Synthe Sis Defects, Propionic Acidemia (PA), Isovaleric Acidemia (IVA), Multiple Carboxylase Deficiency, etc.
- Fatty acid oxidation disorders such as Medium Chainacyl CoA Dehydrogenase (MCAD) Deficiency, Short – Chain Acyl CoA Dehydrogenase (SCAD), Short – Chain Hydroxyl Acyl CoA Dehydrogenase (SCHAD), etc.
How to Prevent Inherited Metabolic Disorders
Since they are genetic disorders, there is no preventive measure. The best way is to screen for them by using Tandem Mass Spectrometry (TMS) which is the new technology for inherited metabolic disorders screening in newborn.
Expanded Newborn Screening allows newborn to have early detection for correct diagnosis and treatment right away. This will help reduce risk of disability and death in babies, as well as reduce family’s responsibilities for raising disability child.
Newborn Screening Method
Doctor will collect blood from the newborns who are 48 – 72 hours old by pricking the heel or dorsal vein on the back of the hand and drop it on a special paper for further laboratory test and detailed analysis.
The Importance of Newborn Screening
- It is an early detection of any inherited metabolic disorders from little or no symptoms in order to prevent death or mental disability.
- Inherited metabolic disorders are rare with no specific tell-tale signs. If detected later in life, it may be too late to treat.
When any abnormality is detected, the pediatric specialist and a multidisciplinary team of medical professional will follow up and diagnose rapidly. This allows the newborns to begin treatment immediately to prevent death or mental disability. They can still have good health and development so that they can have a bright future.
