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Neonatal care

New born baby screening and its importance


Did you know – Prior to discharge from a hospital or birthing center; your new born baby can be screened for various present and future problems?


Did you know – Prior to discharge from a hospital or birthing center, your new born baby can be screen tested for certain genetic abnormalites, endocrine, and metabolic disorders?


Did you knowEarly detection, diagnosis, and intervention can prevent death or disability and enable new born to reach their full potential?


Did you know – These screening tests have the potential to identify diseases and disorders before symptoms appear and before serious complications arise. Early detection allows treatment that may prevent development of serious health problems?


Did you know – All these abnormalities can be screed and diagnosed from using a few drops of blood from the newborn’s heel prick blood dots?







NBS new born screening tests have the potential to identify diseases and disorders before symptoms appear and before serious complications arise. Early detection allows treatment that may prevent development of serious health problems



What is new born screening?

A new born screening is screening tests which are non- invasive in use, which screens your new born baby’s present or future abnormalities or any other problems well in advance. This is done using various latest technologies available at laboratory or diagnostic lab centers.



Benefits of new born screening or neonatal screening

ü  Early detection of children at an increased risk for selected metabolic or genetic diseases


ü  to check children’s for poor digestion and dehydration, we call this as cystic fibrosis an autosomal recessive disorder



ü  To check mental retardation and growth failure, we call this as a congenital hypothyroidism


ü  To check inherited disorder characterized by an inability of the body to utilize galactose resulting several mental retardation



ü  To check certain seizures, an autosomal recessive disorder


ü  To check immune system impairement,an autoimmune inheritated disorder



ü  To check anemia and neonatal jaundice, an G6PD deficiency


ü  To check maple syrup urine disease(MUSD)



ü  To check many for selective panels based on new born, children and their age group





Based on above claims, we classify these tests into two types


  1. Congenital and genetic disorders (at birth)


  1. Infectious diseases ( transmitted )


congential and genetic disorders

The abnormalities or disorders at birth can affect the health and wellness of a newborn,these are to see but possible in case of genetic or ethnic family these problems may be nutrients to hormones. some problems cannot be cured, but many can be managed so that the child can grow and live a normal life.


These types of new born screening are often ordered by your healthcare provider or doctor depending on age and parents requests and also availability of these tests in your region



Infectious diseases

If it is known that mother carries certain diseases during pregnancy or her life time,if these diseases are not testing during preganancy,to check if it is transmitted to new born or child, certain tests are ordered. These infectious diseases are HIV and hepatitis B and others ( if any).


Mother/parents FAQs


What is newborn screening?


Newborn Screening (NBS) is a simple procedure to find out if your baby has a congenital metabolic disorder that may lead to mental retardation or even death if left untreated.



Why is it important to have newborn screening?


Most babies with metabolic disorders look normal at birth. By doing NBS, metabolic disorders may be detected even before clinical signs and symptoms are present. And as a result of this, treatment can be given early to prevent consequences of untreated conditions.


When is newborn screening done?

Newborn screening is ideally done immediately after 24 hours from birth upto 14 years (if required).





How is newborn screening done?


A few dots of drops of blood are taken from the baby’s heel by pricking with tissue paper like kit, blotted on a special absorbent filter card and then sent to newborn screening lab.



Who will collect the sample for newborn screening [NBS]?


The blood sample for NBS may be collected by any of the following doctor, physician, nurse, medical technologist.


How much is the fee for newborn screening?

Do check with your local healthcare provider.


Where is newborn screening available?


Newborn screening is available in Hospitals, Rural Health centers, private Health Centers and some private clinics. If babies are delivered at home, babies may be brought to the nearest institution offering newborn screening.




When are newborn screening results available?


Normal NBS Results are available by 7 – 14 working days from the time samples are received at the NSC.

A negative result means, NBS screening is NORMAL


A positive screen result means that the newborn must be brought back to his/her health practitioner for further confirmatory testing.



What should be done when a baby is tested a positive NBS result?

Babies with positive results must be referred at once to a specialist for confirmatory testing and further management and cure.


What are the disorders tested for newborn screening?

The disorders tested for newborn screening are:


(1) Congenital Hypothyroidism (CH)


(2) Congenital Adrenal Hyperplasia (CAH)


(3) Galactosemia (GAL)


(4) Phenylketonuria (PKU)


(5) Glucose-6-Phosphate-Dehydrogenase Deficiency (G6PD Def.)


(6) Maple Syrup Urine Disease (MSUD)

(7)CF cystic fibrosis


There are about more than 132 tests available to screen, of which many test providers create separate screening panels based on newborns age, child age and doctors request( if necessary).


This ebook is for information purpose only, do not try yourself, do consult your doctor or healthcare providers before taking any above steps. This ebook and its writers are not responsible for any misuse or loss or problem may arise. Readers take all responsibility and adhere to this rule.

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