What Is Newborn Screening? Here's What The Parents Need To Know

Newborn screening screen tests the baby for any medical conditions. Read on to know details about this from an expert.

Navya Kharbanda
Written by: Navya KharbandaUpdated at: Feb 24, 2021 16:42 IST
What Is Newborn Screening? Here's What The Parents Need To Know

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The arrival of your baby marks the beginning of exciting times for the family. Parents try to provide the best start to the baby to help them reach their full potential. Newborn screening is one such important part of your baby’s future health. Interestingly, newborn screening is part of public health policy and is mandatory for all newborns in up to 60 countries worldwide. All parents are offered the opportunity to screen their newborns for rare but serious medical conditions that can affect their long-term health or chances of survival. Although these conditions are rare, if diagnosed early, the baby can receive timely medical treatment and care as soon as possible. Taking care of a new born baby is one of the most challenging tasks one has to do. Onlymyhealth editorial team spoke to Dr. Prakash Gambhir, Chief Medical Scientist, LifeCell International Pvt. Ltd, about newborn screening, how it works and why should parents consider it.

What Is Newborn Screening?

newborn screening

Most of the babies are born healthy but some may have health problems that are not easy to detect. Parents or clinicians may not be able to identify such conditions by just looking at the baby.  Additionally, sometimes, a baby can have a condition even if there is no family medical history. These conditions, if not detected early and left untreated, can lead to brain damage, slow the baby’s development, or cause life-threatening illness. Hence, newborn screening is the first preventive health test for your baby’s good health. It is carried out in the first few days after your baby’s birth and helps screens for genetic, developmental, metabolic, or endocrine disorders before symptoms appear. Since it is a screening test, it only indicates the risk of your child having a disorder. Based on your reports, the doctor may recommend further confirmatory testing to provide a definite diagnosis.

Common newborn screening tests

Newborn Screening test screens the baby for up to 60 medical conditions. These conditions are primarily metabolic and genetic disorders that are either passed down or appear for the first time in the family. Most disorders are genetic in such cases. All these tests are usually done using the same sample of the baby's blood. According to Dr. Prakash, some of the common medical conditions that are screen tested include:

1. Congenital adrenal hyperplasia

Excessive production of male hormones (testosterone) in both female and male babies causes this condition. It is a genetic disorder that affects one in 5000 babies. It happens because of the defects in the production of adrenal hormones. Severe cases can even cause life-threatening salt loss. There is no proper cure but it can be treated by replacement of salt and the missing adrenal hormones. In babies who have CAH, there is a deficiency of one of the enzymes that is needed to make these hormones.

Also read: Avoid Prenatal Infections With Precautions At Initial Stage

2. Congenital hypothyroidism (CH)

Congenital hypothyroidism happens due to low production of thyroid hormone. This condition can lead to intellectual disability, poor growth and development. Most newborn's who have this defect can be treated right after birth to prevent growth failure, deafness, and neurologic abnormalities. Babies with congenital hypothyroidism who start getting oral thyroid hormones in the initial few weeks of life do not have to face these symptoms.

3. Cystic fibrosis

cystic fibrosis

Built-in of mucus in lungs and pancreas, causing recurrent lung infections and breathing problems. In this inherited disease, the body makes very thick or sticky mucus. These people can have digestive problems and it might get hard to gain weight. It can cause symptoms soon after the baby is born.

4. Sickle cell disease and other haemoglobin disorders

Abnormally-shaped red blood cells limiting the availability of oxygen throughout the body of the baby. Basically, the red blood cells in newborn become become sickle-shaped because of this genetic condition, after which they give up oxygen to the tissues. The sickle-shape cells can become stuck in blood vessels, resulting in pain and organ damage.

5. Phenylketonuria (PKU)

Phenylketonuria is an inborn error of metabolism that may result in epilepsy, and learning, behavioural, and intellectual difficulties. Babies with PKU have a deficiency of an enzyme called phenylalanine hydroxylase which is needed to process phenylalanine, an important amino acid in the diet. This defect causes phenylalanine to accumulate in the blood stream, which can result in brain damage.

Also read: Check Out These 4 Surgical Treatment Options For Birth Defects; Expert Says Don't Ignore Or Delay

6. Fatty acid metabolism disorders

Fatty acid metabolism disorders are genetic conditions in which the body is unable to produce or utilize one enzyme that is needed to oxidize fatty acids. In this disorder, the enzyme might be missing or improperly constructed, which makes it inefficient.

7. Glucose-6-phosphate dehydrogenase deficiency (G6PD)

Red blood cells are destroyed prematurely, triggering jaundice. This is also a birth deficiency. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an inherited condition which usually occurs in males. 

newborn screening

8. Galactosemia

An inborn error of metabolism can also result in poor feeding, poor growth, weight loss, jaundice, and low blood sugar. This disease happens because of lack of an enzyme that is required to handle the sugar galactose. This inefficiency causes failure to thrive, vomitting, persistent liver problems and even mental retardation. The eradication of galactose from your kid's diet, by avoiding milk and milk products results in significant improvement and the symptoms of this condition start to disappear in time.

9. Biotinidase deficiency

Biotinidase deficiency is an inherited metabolic disorder that may lead to weak muscle tone, candidiasis, hair loss, and poor development. In this condition, there is a deficiency of the essential B vitamin biotin. These complications are avoided by giving extra biotin to the newborn baby.

Also read: 7 Tips On How To Take Care Of The NewBorn In The First 6 Months By Gynaecologist Dr Sudeshna Ray

Therefore, newborn screening can also help in early diagnosis of biotinidase deficiency. The screening is performed 48 hours after the baby’s birth, usually before discharge from the hospital. The blood sample is collected by pricking the baby’s heel and taking a few drops on a special filter paper. An advanced level of newborn screening tests includes two-level testing, namely, biochemical screening indicates whether there is an increased risk to the baby for developing a certain disorder and genetic testing for screen-positive results, ensuring definitive diagnosis.

Why should parents go for newborn screening?

Most babies are born healthy and may not have conditions that screening tests look for. However, babies who have health problems that are not detected at the time of birth may benefit enormously from this screening. According to an Indian study, 800,000 babies are born with congenital malformations, 25,000 with metabolic disorders, 350,000 with G6PD, and 15,000 with CH, emphasizing the need for newborn screening. Early detection and treatment can, thus, help prevent adverse outcomes including severe physical or intellectual disability, life-threatening illness, or fatality. 

So, this is newborn screening and some things that parents should know about it by Dr. Prakash Gambhir. Doctors can check for any rare, genetic, metabolic or hormonal health conditions that can cause serious problems with a basic blood test. Newborn screening enables doctors to do a timely diagnosis of babies and begin the medical treatment for the condition as soon as possible. The decision is in the hand of the parents if they want to get their newborn"s screening or not.

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