Popularly known as NBS, newborn screening is a medical procedure where a newborn baby is screened within 72 hours of birth for any disorders or diseases that might affect the baby’s normal functions. Metabolic disorders, blood diseases, genetic disorders, etc. come to the foray very early if the baby is given an NBS. Doctors suggest it to parents if they suspect anything in the baby.
The idea is to perform the tests and detect diseases, if any, at the earliest stage possible so that the necessary treatment can be provided at the very start of the disease and it can be cured. It is also important to keep in mind here that the tests are just to check the symptoms and should not be considered as the final diagnosis’s has two other popular names for it; one is Neonatal screening and the other one is Guthrie test, after the founder of this test. Robert Guthrie is known all over the world as the father of Newborn Screening.
In This Article
- Neonatal Screening Tests in India
- Why is Neonatal Screening Tests Important For Babies?
- When Are The Neonatal Screening Tests Done?
- Where Can My Baby Take The Newborn Screening Tests?
- What Tests Comprise Neonatal Screening Tests?
- Neonatal Screening Tests Cost In India
- Will The Newborn Screening Tests Hurt My Baby?
Neonatal Screening Tests in India
Newborn screening also referred to as NBS, is a clinical technique in which a newborn baby is examined for any illnesses and conditions that can impair his or her ability to function normally within 72 hours of delivery. These tests are only carried out by a select few hospitals in major cities like Delhi, Mumbai, and Bangalore.
NBS includes four types of screening:
1. APGAR Scoring
APGAR, a short form for Appearance, Pulse, Grimace, Activity, And Respiration, is a test that is performed on newborn babies within the first 5 minutes of their birth.
2. Biochemical Screening
Blood tests help identify metabolic disorders, blood diseases, genetic disorders, etc. using cutting-edge techniques like Tandem Mass Spectrometry.
3. Hearing Screening
The hearing tests comprise tests like AABR, and OAE. Hearing screening is the first and most important step in helping understand if your baby can be deaf or hard of hearing. AABR & OAE screens are quick (about 5 to 10 minutes), painless, and may be done while your baby is sleeping or lying still.
4. Heart Screening
Detection of critical congenital heart disease through pulse oximetry helps in identifying heart diseases before symptoms set in, and before the baby is discharged from the hospital. Pulse Oximetry helps to measure the hemoglobin level in the blood which is saturated by oxygen.
5. Haemoglobinopathies
Conditions such as Sickle Cell Anemia, Thalassemia are tested for. In these conditions, the red blood cells are not in the right shape and hence cannot work as normal red blood cells thus causing anemia in babies
Why is Neonatal Screening Tests Important For Babies?
Most often, babies who are given a NBS are normal, and no abnormality is detected. Parents often feel that everything is alright because a newborn does not exhibit any signs or symptoms of any disorder whatsoever. It may be noted here that any underlying condition will surface its symptoms and signs only after a few weeks post birth. Though we all hope that our babies are all hale and hearty, however, just in case a baby has a condition that is left undiagnosed, it will cause the baby health complications in the future. In such a case, the baby’s mental and physical growth can be inhibited. Thus, getting your newborn screened for various disorders and diseases is crucial, so as to enable your baby to live a healthy and happy life.
When Are The Neonatal Screening Tests Done?
These tests are done shortly after birth. Blood samples are taken from the baby’s heels within 48 hours after the birth. The blood samples are then sent to the lab where tests are done using advanced methods like Tandem Mass Spectrometry and diseases if any are effectively identified.
Where Can My Baby Take The Newborn Screening Tests?
If you have given birth in our hospital, the staff will take care of everything. They will take the blood samples, send them for testing and the results will be reported back to the hospital itself. You don’t have to carry your baby anywhere for these tests. Though most of the symptoms are expected to be detected from the samples taken within 48 hours of birth, as a measure of precaution it is likely that your doctor will ask you to visit the hospital again with your baby in a week just to cross-check if anything was missed because some signs show up after a few days of your baby’s life.
If you have given birth at home, then positively take your baby for the tests no later than the seventh day of its birth. You will be happy to know that your baby will be tested for a total of 57 core disorders! By performing the tests, you will have made sure you have saved your baby from all of those diseases and if God forbid, your baby tests positive for any of the diseases, don’t panic because first of all, it will have just detected the symptoms and not confirmed the disease and secondly, it will have been detected at such an early stage that you can be assured to get the best treatment and get it cured.
What Tests Comprise Neonatal Screening Tests?
Neonatal screening broadly consists of three types of tests.
- APGAR Score
- Neonatal Blood Screening Tests
- Hearing Screening Tests
- Heart Screening Tests.
1. APGAR Score
This is the very first test that a baby undergoes immediately after birth. The doctor or nurse will evaluate the following parameters to determine if the baby has tolerated the delivery process well and how the baby is thriving after birth. Each parameter will be given a scoring of 1 or 2. The parameters for the APGAR score include
- How Well the Baby is Breathing
- Baby’s Heart Rate
- Reflexes or responses to Stimuli such as pinching
- Muscle Tone whether it is loose and floppy or strong with active motion
- Whether the baby’s skin color is pink or blue
2. Neonatal Blood Screening Tests
Neonatal blood screening tests are simple blood tests which will check for severe and dangerous diseases such as genetic conditions, metabolic disorders, hormone-related conditions, etc. These conditions, when treated early, can be life savers for babies.
Here are some of the common conditions that neonatal blood screening tests check for.
a) Maple Syrup Urine Disease
A metabolic disorder where the baby’s body is unable to breakdown certain proteins in the urine resulting in sweet-smelling urine, like that of maple syrup
b) Congenital Adrenal Hyperplasia
A genetic disorder where the genes undergo mutations to result in less production of sex steroids
c) Glucose-6-Phosphate Dehydrogenase Deficiency
A genetic condition where the body continuously destroys red blood cells.
d) Congenital hypothyroidism
A condition resulting from an absent or underdeveloped thyroid gland or one that has developed but cannot make thyroid hormone because of a production line problem
e) Phenylketonuria
A metabolic disorder where amino acid builds up in the body
f) Galactosemia
In this condition, a baby is unable to process galactose, the sugar in milk. Inability to process galactose may lead to liver and brain
g) Sickle Cell Anemia
In this condition, the red blood cells are not in the right shape and hence cannot work as normal red blood cells thus causing anemia.
3. Neonatal Hearing Screening Test
The hearing screening is a first and important step in helping understand if your baby may be deaf or hard of hearing. Without newborn hearing screening, it is hard to know when there are hearing changes in the first months and years of your baby’s life.
Babies may respond to noise by startling or turning their heads toward the sound, for example. But this doesn’t necessarily mean they can hear all the sounds around them and everything we say. Babies who are deaf or hard of hearing may hear some sounds but still not hear enough to understand spoken language.
Infants who are deaf or hard of hearing need the right support, care, and early intervention services to promote healthy development. If the hearing status is not identified, it may have negative effects on the baby’s communication and language skills. Longer term, a missed hearing loss can also impact the child’s academic achievement and social-emotional development.
Types of Newborn Hearing Screening Tests
There are two screening methods that may be used:
a) Automated Auditory Brainstem Response (AABR)
This screen measures how the hearing nerve and brain respond to sound. Clicks or tones are played through soft earphones into the baby’s ears. Three electrodes placed on the baby’s head measure the hearing nerve and brain’s response.
b) Otoacoustic Emissions (OAE)
This screen measures sound waves produced in the inner ear. A tiny probe is placed just inside the baby’s ear canal. It measures the response (echo) when clicks or tones are played into the baby’s ears.
Both screens are quick (about 5 to 10 minutes), painless, and may be done while your baby is sleeping or lying still.
What if My Baby Does Not Pass the Initial Hearing Screening?
If your baby does not pass the hearing screening at birth, it does not necessarily mean that she is deaf or hard of hearing. Fluid or vernix inside the baby’s ear, for example, or too much noise in the room can affect results. In fact, most babies who do not pass the newborn screening have typical hearing. But to be sure, it is extremely important to have further testing done.
About 1 or 2 in every 100 babies will not pass the initial hearing screening at birth and will need tests with an audiologist who has experience working with babies. This testing should include a more thorough hearing and medical evaluation.
Be sure to talk with your baby’s pediatrician about scheduling further tests if your baby does not pass the initial hearing screening at birth. The additional testing should be done as soon as possible, but before your baby is 3 months old.
Follow-up testing may start with one more screening similar to the type done in the hospital. Some hospitals or clinics may complete a diagnostic test at the time of follow-up, instead of re-screening. In young infants, the follow-up testing may be able to be completed while the baby naps.
If My Baby Passes the Newborn Hearing Screening, Does it Mean He or She Will Not Have Hearing Loss Later?
Unfortunately, no. Some babies may develop hearing loss later in childhood. Causes of late-onset or progressive hearing loss in children can include genetics, frequent ear infections, other infections like measles or meningitis, a head injury, exposure to damaging levels of loud noises, and secondhand smoke. Newborns that need an extended period of neonatal intensive care may also be at an increased risk for hearing loss later.
Even if your baby passes the newborn hearing screening, you should still watch for possible signs of hearing loss as your child grows. Talk with your pediatrician if your child:
- Doesn’t startle at loud noises by 1 month or turn toward sounds by 3-4 months of age.
- Doesn’t notice you until he sees you.
- Concentrates on vibrating noises more than other types of sounds.
- Doesn’t seem to enjoy being read to.
- Is slow to begin talking, hard to understand, or doesn’t say single words such as “dada” or “mama” by 12 to 15 months of age.
- Doesn’t always respond when called, especially from another room.
- Seems to hear some sounds but not others. (Some hearing loss affects only high-pitched sounds; some children have hearing loss in only one ear).
- Has trouble holding his or her head steady or is slow to sit or walk unsupported. (In some children with sensorineural hearing loss, the part of the inner ear that provides information about balance and movement of the head is also damaged.)
- Wants the TV volume louder than other members of the family.
Timing is everything. The sooner hearing changes are identified in a baby, the more likely interventions can help her reach her full potential. Talk with your pediatrician if you have any concerns about your child’s hearing.
4. Newborn Heart Screening Test
Most babies are born with a healthy heart with no issues at all. But a small percentage of babies will be born with a heart condition known as Congenital Heart Disease or CHD. Among these babies, a quarter will suffer from a severe form of this condition known as Critical Congenital Heart Disease or CCHD. In both these conditions, extremely early detection of the condition is vital. Especially babies born with CCHD may need to have a surgery within the first year of their life.
This test is done with the help of a pulse oximeter. For this test, a small sensor is attached to the baby’s hand and foot. The sensor is connected to a device which will take the blood oxygen and the heart rate. The doctor will determine whether the baby is within safe limits or is at risk of heart disease and needs treatment.
Some types of CHDs and CCCHDs will cause the baby to be born showing symptoms and the baby will be treated before leaving the hospital. But in some types of heart diseases, the babies may not show symptoms until a little later in life. By the time the condition is detected, it can get too late. In such cases, early detection through newborn heart screening becomes vital to help the baby get treatment on time.
Neonatal Screening Tests Cost In India
It is difficult to predict how much neonatal screening tests cost in India. The costs for neonatal screening tests will depend on various factors such as which set of tests are prescribed for your baby by the doctor, your medical history, the area where you stay, and accessibility to the tests. Here are some vital factors that will decide the cost of the tests.
1. Family Genetic History
If your family has a medical history of imbibing a particular disease, then a test for that particular disease will be included in the test.
2. Necessity For The Tests
In most countries, the tests to be done are usually predetermined by the state. But if you are doing it in India, as there is no Government intervention you can decide your best options with your doctor. You can consult with your gynecologist, pediatrician or a geneticist to check what tests are necessary in your case. If you can afford the costs, your doctor may suggest you to take all the tests to ensure your baby does not have any health issues. The total cost will depend on the number and type of tests that your doctor recommends for your baby.
3. Availability of The Test in Your Town/City/Area
If the test is easily available in your area, the total cost of the test may be slightly less. On the other hand, if the tests have to be sent to the nearest town or city, the total costs may increase considerably.
4. Subsidization
As newborn screening tests are still not Government funded in India, you will have to bear the expenses on your own. The expense may range from 3500-6500 INR.
Will The Newborn Screening Tests Hurt My Baby?
All the tests above are relatively painless, non-invasive and may just cause slight discomfort to the baby. Other than that the tests are relatively painless. For blood tests, a heel stick test is performed where a few drops of blood is taken from the baby’s heel. This is a painless procedure. Hearing tests involve the use of probes or electrodes, both of which are painless and harmless. Heart screening is also a non-invasive procedure and will not hurt your baby in any manner.
Newborn screening tests in India are slowly becoming available to the general public, especially in metro cities and bigger cities as well. Due to lack of Government involvement, the tests may be slightly expensive, but they are vital, especially if you have a family history of health disorders or if any anomalies were detected in your baby during prenatal tests.
Do talk to your doctor about the availability and necessity of the tests and they will be able to guide you depending on your situation.
