Understanding the Importance of the Newborn Screening

Your little one has finally arrived, and you have counted all their tiny toes and fingers. You have been watching their small chests rise and fall peacefully. And you are mesmerized by the perfection of the little life. Why should you subject them to a bunch of tests in the name of newborn screening?

Well, it’s an aspect of good parenting. And most importantly, certain medical conditions might go undetected as your baby grows. With newborn screening in place, your healthcare professional can successfully detect, treat, and prevent a wide range of intellectual and physical disabilities. Now, how do you start in the right way?

What is Newborn Screening?

NBS, or NewBorn Screening, refers to a group of tests performed shortly after your baby is born to identify the presence of any medical conditions. The test was initially used in the early 1960s to test for phenylketonuria. However, with the evolution of advanced medical technology, newborn screening is now performed to test more than 50 different conditions. By identifying these conditions early, treatment can also be started before the infant begins to show any symptoms.

NBS – The Need of the Hour

According To the Indian Medical Association, one out of every 20 newborn children are admitted to healthcare facilities with genetic disorders. Every 64th newborn in 1000 is more likely to develop a genetic disease from the family that gets transmitted to future generations. For instance, one in 25 Indians carries beta-thalassemia genes, resulting in a good segment of newborn cases due to lack of access or proper counseling and treatment approaches.

What are the Causes/ Risk Factors for Newborn Diseases?

Newborn diseases can occur during any stage of pregnancy, especially in the first trimester. Nonetheless, some conditions might occur later in the last trimester of pregnancy. Experts have revealed that there are no exact causes for most newborn diseases. They consider it to happen due to the complex combination of factors, including genes, behaviors, and environmental aspects.

While we still have to instill more studies, here are some reasons that might increase the risk of babies with neonatal diseases.

• Family history of congenital disabilities or presence of any genetic disorders
• Use of drugs, consumption of alcohol, or smoking tobacco during pregnancy
• When the woman’s maternal age is 35 years or older
• Insufficient prenatal care
• Untreated viral or bacterial infections, such as STIs (sexually transmitted infections)
• Intake of certain high-risk medications, including isotretinoin and lithium.
• Pre-existing medical history, such as diabetes mellitus

Types of Newborn Screening Tests

Let us explore the major types of newborn screening tests available in every healthcare facility:

• Blood test – Also known as the heel stick test, the blood test involves the collection of blood samples drawn from the infant’s heel. The blood sample is collected and placed on a sterilized filtered card, creating blood spots to initiate the testing.

• Hearing test – There are usually two hearing screening tests for newborns. The entire procedure will take around 10 minutes to be completed. They are:

1. Otoacoustic Emissions Test – Otoacoustic Emissions Test (OET) allows healthcare professionals to determine whether the infant is actively responding to sound waves.
2. Auditory BrainStem Response – Auditory BrainStem Response (ABR) is performed to evaluate the nerves that carry the sound waves to the brain and assess how the brain responds to the sound. It is usually performed by inserting miniature earphones into the baby’s ear and playing sounds.

• Pulse Oximetry Testing – Pulse oximetry testing aims to measure the oxygen level in the infant’s blood, helping identify Critical Congenital Heart Disease (CCHD). The test has to be performed after 24 hours using the pulse oximeter.

Newborn screenings for 50 medical conditions are categorized into the following types:

• Hemoglobinopathies – The test identifies hemoglobin-related problems, including disorders such as sickle cell anemia and thalassemia.

• Endocrine disorders – Newborn screening with endocrine disorders will detect hormonal imbalances like hypothyroidism.

• Carbohydrate disorders – These include tests for conditions, including lactose intolerance, that affect carbohydrate metabolism.

• Infectious diseases – This involves the detection of infection-causing bacteria, viruses, and other antibodies.

When to see a Doctor for Newborn Screening?

Talking about newborn screening with your healthcare professionals before the infant's birth is important. Generally, it should be carried out within 24 to 48 hours after the baby’s birth to check for certain diseases and conditions. It is also important to remember that experts recommend follow-up testing for every positive result. With the earliest detection, treatment can be started at the right time to help the infant grow and become the healthiest it can be.

Wrapping Up!

As diagnostic intervention embarks on a new journey in newborn screening, a profound awareness is echoed across parents, highlighting its importance. In simple words, NBS is a set of laboratory tests that helps identify serious disorders or diseases that can significantly impair the health of infants. At Apollo Diagnostics, we hold a key player in global medical diagnostics tests at an affordable price. Walk into our nearest center in your city and secure your infant’s well-being in the long run.

Frequently Asked Questions (FAQs)

Q1. What are the WHO guidelines for newborn screening?

WHO (World Health Organisation) has recommended that genetic services be available in every country with an infant mortality rate (IMR)of less than 50. India has recorded an IMR rate of 40, making implementing newborn screening and genetic services mandatory.

Q2. When is the earliest time frame to opt for newborn screening?

Your baby can get newborn screening before they leave the healthcare facility after birth, between 24-48 hours after birth. On the other hand, certain newborn tests are recommended to be performed one to two weeks after birth.

Q3. What are the most common medical conditions diagnosed in newborn screening?

Newborn screening tests are usually performed to find the presence of hearing loss, low thyroid levels, cystic fibrosis (a disorder that causes breathing problems and indigestion), sickle cell disease or other red blood cell disorders, and MCAD deficiency (a disorder that affects the breakdown of fat).