For Parents

You are met with the arrival of your new bundle of joy. As a parent, your baby’s health is your first priority. To ensure that your baby gets the best start in life and stays healthy, your newborn can be screened for at least 25 rare metabolic disorders.
From the moment Meera was born, she was in danger of irreversible brain damage or death—and no one knew it. Born in February 2012 in Delhi, Meera was full term normal delivery. She ate, slept, and made all the right noises. The doctors and nurses agreed that she was beautiful, strong, and healthy. The nursing home where Meera was born had a newborn screening program in place. Meera had her heel pricked about 24 to 48 hours after being born. Five drops of her blood were pressed onto a piece of filter paper about the size of an index card. Her card was sent to the Innovative Life Discoveries laboratory the same day for newborn screening.

During all this time, inside the infant’s body, acids and toxins were slowly building up to dangerous levels, putting her at risk of brain damage or death. Meera had been born without an essential enzyme that could break down certain components of proteins in the body. Every kind of food, including breast milk, can become like a poison to babies with such metabolic disorders. Meera’s mother, Neha, brought her new baby home and settled her in with her father, her 6-year-old brother, and her grandmother.

Meanwhile, at the lab, the piece of paper with Meera’s blood sample was cut into small discs and put through a complex system of chemical combinations and exacting equipment, to test for 55 different conditions. Over the next several hours, the tiny blood samples were analyzed at the molecular level. Experts trained in the precise protocol for testing took a look, and more experts checked their conclusions.

The newborn screening had picked up evidence of a rare condition, propionic acidemia. The screen helped catch it in time. With treatment and a special diet, Meera could live and thrive.

Meera is just one of the more than 26 million babies each year in India whose lives can be safeguarded against such disorders by newborn screening.

Most parents don’t think twice about newborn screening. Many aren’t even aware it’s being done. The parents who do know well, they might sometimes feel they know a little too much about it.

“The wonderful thing about my daughter’s story is that there is no story. Because of newborn screening, we have not been a family in crisis, but instead, we have been a family empowered with knowledge. Now, whenever I see a pregnant woman, I stop and take a quick moment to say, ‘Make sure you ask about your baby’s newborn screening. It saves lives. It saved my daughter.” – Neha

The newborn screening disorders

The disorders included in the newborn screening panels belong to following categories:

  • Hormonal- congenital Hypothyroidism, congenital adrenal hyperplasia
  • Metabolic- galactosemia, biotinidiase deficiency, amino acid disorders, fatty acid oxidation disorders and organic acid disorders
  • Hemoglobinopathies: Sickle cell disease, Sickle-C disease, β-thalassemia and variant hemoglobins
  • Others- glucose-6-phosphate dehydrogenase deficiency, cystic fibrosis.

Hormones are master regulators of body physiology and their deficiencies can have severe consequences. For instance, congenital hypothyroidism if not detected early and treated leads to mental retardation and growth problems. The nervous system goes through important development during the first few months after birth. Lack of thyroid hormones can cause damage that cannot be reversed.

Metabolic disorders are usually catastrophic if left undiagnosed and untreated. Although the clinical picture may vary, infants with metabolic disorders typically present with lethargy, decreased feeding, vomiting, tachypnea (from acidosis), decreased perfusion, and seizures. Irreversible mental retardation and liver failure may occur in some disorders.

Hemoglobinopathies are due to defects in the structure of hemoglobin molecule present in red blood cells. Abnormal hemoglobin structure affects the ability of red blood cells to carry oxygen and also result in mild to severe anemia as in sickle cell disease.

Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is an X-linked recessive genetic condition that predisposes to hemolysis (spontaneous destruction of red blood cells) and resultant jaundice in response to a number of triggers, such as certain foods, illness, or medication. The condition is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase, an enzyme involved in the pentose phosphate pathway that is especially important in the red blood cell.

Cystic fibrosis is manifestation of defect in chloride channel in the cell membrane which results in accumulation of abnormally thick mucus in lungs, intestine and pancreas. Long-term issues include difficulty breathing and coughing up sputum as a result of frequent lung infections. Other symptoms include sinus infections, poor growth, fatty stool, clubbing of the finger and toes, and infertility in males among others.

A Small Test with Big Benefits

In order to perform the screening tests, a small blood sample is needed from your baby. A few drops of blood are collected on special filter paper by gently pricking the heel (just like finger prick for testing for blood glucose at home). The sample is sent to the newborn screening saboratory for analysis. Blood samples can be taken from your baby any time after 24 hours of birth till 7 days. Blood sample can also be taken after this period but the symptoms of some disorders may already be noticeable by this time and by the time results are available irreversible damage may be already present.

Recommended Uniform Screening panels

To achieve a more uniform screening menu, the American College of Medical Genetics (ACMG) in 2006, recommended that each baby regardless of birthplace, should be screened for at least 29 conditions, which is called core panel. In addition to these 29 core conditions, the ACMG identified 25 so-called secondary targets. These include conditions that are included they are part of the differential diagnosis of the core conditions. Many of these are also clinically significant but no efficacious treatment is yet available and others are of uncertain clinical significance. Twenty-two of the secondary targets are identified by tandem mass spectrometry. More details about these core and secondary panels can be found here.

Newborn screening panels at Innovative Life Discoveries have been designed as per international guidelines.

Disorder Panels

Disease 1 Indications Consequences without treatment Treatment
Congenital Hypothyroidism CH Baby has low level of thyroid hormones Mental retardation & poor growth Thyroid hormone replacement
Congenital Adrenal Hyperplasia CAH Baby has adrenal gland abnormalities Death in the Newborn period Adrenal Hormonal replacement
Glucose-6-phosphate Dehydrogenase Deficiency G6PD Baby has deficiency of Glucose-6-Phosphate Dehydrogenase enzyme Leads to severe hyperbilirubinemia, acute bilirubin encephalopathy and kernicterus. Clinician’s advice
Galactosemia GALT Baby is unable to utilize a certain kind of sugar (Galactose) found in Breast milk & infant diet Death in the Newborn period Replace milk products in the diet with milk substitute
Biotinidase Deficiency BTD Baby is unable to utilize a necessary vitamin called Biotin Convulsions, hearing loss & mental retardation Biotin supplement
Cystic Fibrosis CF Baby has thickened body fluids that affect breathing & digestion. Sometimes causes infertility in certain affected males Poor growth & difficulty gaining weight , lung damage over time Lifetime care includes: Respiratory therapy, special medications, diet counseling& medical supervision.
Phenylketonuria PKU Baby is unable to utilize a certain part of proteins present in body Mental Retardation Special diet & blood monitoring
Sickle Cell Anemia SCA Baby has Sickle shaped red blood cells Possible sudden death from infection There is no treatment, Penicillin recommended to reduce risk of infection.
Amino Acid Metabolism, Fatty Acid oxidation, Organic Acid Disorders 1 Baby cannot eliminate certain waste products from the body Severe disability or death in certain cases. Special diet & medication

NBS is a system that helps to determine whether your baby is at has a higher risk for having a disorder for which early treatment or management can prevent intellectual disability, physical disability, or even early death. The screening involves a blood test called heel-prick test. NBS is usually performed when your baby is 24-48 hours old.
Most babies with the disorders included in newborn screening look and act normally and seem perfectly healthy. Newborn screening helps alert health care providers about a possible problem with your baby before it causes illness. Most babies who are diagnosed early and treated promptly do well. The earlier the disorder is detected, the higher the chance of having a good prognosis.
Parents who have no family history of these conditions and/or who have already had healthy children can still have children with these conditions. In fact, most children with these conditions are born into families with no history of the condition.
The test is performed by pricking your baby’s heel and putting a few drops of blood on a special filter paper. The paper is allowed to dry and then sent to the newborn screening laboratory where several different tests are performed.
The test is performed by pricking your baby’s heel and putting a few drops of blood on a special filter paper. The paper is allowed to dry and then sent to the newborn screening laboratory where several different tests will be performed.
During New born screening process, blood is collected from the baby’s heel onto a card (see a picture of a blood spot card below) and used for screening tests. These cards also record some personal information including the baby’s name, mother’s name, baby’s date of birth, address, and contact details of the referring doctor. 2
The blood test is generally performed when a baby is 24 to 48 hours old. This timing is important because certain conditions may go undetected or you may get false positive result, if the blood sample is drawn before 24 hours of age. If the blood is drawn after 48 hours of age, there could be a life-threatening delay in providing care to an infant that has the condition. This precaution ensures that parents and health professionals have the most accurate results. Ideally, the newborn hearing screen should be performed before the baby leaves the hospital.
It is preferable to wait for a baby to be on milk feeds prior to newborn blood spot screening. The results of metabolic disorders may come false negative.
Heal prick procedure is not likely to cause significant discomfort to your baby. The following suggestions may help make the screening experience more comfortable for you and your baby:

  1. Nurse/feed the baby before and/or after the procedure.
  2. Hold the baby during the procedure.
  3. Make sure the baby is warm and comfortable during the procedure.

Studies show that when mothers or health professionals comfort babies during the heel stick, the babies are less likely to cry.

The newborn screening program at Innovative Life Discoveries has been developed as per international norms. The NBS panels cover all disorders recommended in the ACMG core and secondary screening panels and a few additional ones.
Normal screening results will be communicated to the parents and/or health care provider by preferred mode of communication, as per the turnaround time (TAT) for the test. Abnormal screening results will be intimated by phone and/or email to the parents and/or healthcare provider as soon as the laboratory results are available. An abnormal newborn screen result does not necessarily mean your baby is ill. It may occur because the blood sample was collected too soon after birth, not enough blood was obtained, or your infant did not have enough breast or bottle feedings prior to the testing. However, sometimes an out-of-range result indicates a serious, but treatable, health problem. It is important for parents to follow up with the baby’s primary healthcare provider immediately to learn the cause of the out-of-range result.
You will be contacted if your baby needs additional testing. This does not mean that your baby is sick. Your baby may need some more tests. Your baby’s health professional will let you know what tests are needed and how to get them. It is very important that you get these tests done to make sure that your baby is healthy. If your baby is sick, treatment may be needed right away.
There are two main reasons why a repeat screening test may be needed:

  1. There was a problem with the way the first blood sample was collected; OR
  2. The test result was abnormal.

To repeat the newborn screening test, a new blood sample is needed from your baby. The newborn screening test is most accurate if your baby’s blood is taken after the first 24 hours of life. If your baby’s blood was collected before 24 hours of age, your doctor may ask you to repeat the test when your baby is 1 to 2 weeks old. Repeat sample after a borderline result is processed free of charge.

Your baby’s health professional will contact you if your baby needs to be retested. They will tell you why the baby needs to be retested and what to do next. A retest does not mean that your baby is sick, but more testing needs to be done to be sure that your baby is healthy. If your baby needs to be retested, get it done right away.
Each disorder is different. Some are treated with a special diet and others with medicine. If treated early, many babies grow up to lead a normal, healthy life. In a few cases, the disorders may not be completely treatable. Early diagnosis and treatment will allow your baby the best chance of normal growth and development.
No. Just as eye color or height cannot be changed, disorders of body chemistry cannot be cured. These disorders are caused by “mistakes” in the genes that cannot be corrected. However, the serious effects of many of these disorders can be prevented or lessened if a particular diet or medication is started early.
New Born screening at birth is mandatory in most developed countries and the technology that is used at Innovative Life Discoverieshas been validated on millions of infants.
Babies who are premature, unwell, or have had blood transfusions should all have the newborn blood sample taken as usual between 5 and 8 days of age AND this information recorded on the blood spot card. It is very important that the test is taken at the usual age so there is no risk of a baby going untested. If a baby is born at less than 32 weeks an additional test is needed for congenital hypothyroidism at 28 days of age or discharge home from hospital, whichever is sooner.
Screening of older children may be beneficial; however, this should be discussed with your baby’s docotr.
Newborn screening is just the first step in determining whether a baby has a condition. If a screening result is outside the typical range, diagnostic testing must be done to confirm the condition.


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