Newborn Screening

Newborn Screening

While most babies are born health, some may have underlying genetic disorders that often go undetected since babies born with these disorders may not show any symptoms till the disease progresses. As genetic disorders are not treatable, these disorders if detected & diagnosed early can be controlled & managed with simple lifestyle modifications or inexpensive treatment. However,  if undetected, these disorders may cause severe physical and mental disability and even death.

Newborn Screening involves screening apparently healthy looking newborn babies for these disorders and is mandatory in most developed and many developing countries world-wide.

FAQ

Newborn Screening is testing apparently healthy looking newborn babies for underlying biochemical and metabolic disorders. Newborn Screening is done through a simple heel-prick test where a few drops of blood are collected from the heel of the newborn and checked for common disorders.

Established practice across the world in developed countries is for all couples to be offered Newborn Screenings. All parents should consider getting their newborns tested as most of the disorders affecting newborns may not show any symptoms till the disease has reached an advanced stage.

Newborn Screenings first and foremost gives parents peace of mind by providing information of the health of their child much in advance. Secondly & more importantly, screenings allow early detection which in turn leads to an early diagnosis. Because genetic disorders are non-treatable, a disorder detected early is much easier to control & manage as opposed to when it becomes more severe with age.

Yes, if you wish to know the health of your newborn child as early as possible & not take any chances.  As symptoms of genetic disorders may not reveal themselves early, it is less of a need based requirement & more preemptive focused. Which is why in developed nations, it is mandatory for the test to be offered to parents. Also, early medical intervention will help prevent progression of the disorder and can help the child lead a normal life.

In the event there is family history of genetic disorders or if a previous child was suffering from a disorder at birth, discussing with your doctor & screening a newborn is highly recommended.

It is important to note that NOT all metabolic, genetic & chromosomal disorders are inherited as some disorders occur spontaneously (de novo mutation) during conception; meaning no history of genetic disorders is even necessary for a child to suffer from one. Also, some inherited disorders do not show any signs or symptoms of their presence for generations together due to their recessive nature. This may erroneously be interpreted as ‘no family history of genetic disorders’. Which is why, across the globe in developed countries newborn screenings are routine procedures.

If that is the case, one certainly needs to discuss this with their referring doctor. Newborn screenings only detect biochemical & metabolic disorders after birth; for other genetic & chromosomal disorders, Prenatal Screenings (before the child is born) are required. It is in the best interest of prospective parents to inform doctors about any family history of genetic diseases to enable them to make informed decisions before & after the baby’s birth.

Newborn screenings can be done any time after 72 hours of child birth till 15 days, though earlier the better.

From simple and common biochemical disorders like Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, Galactosemia , Cystic Fibrosis, G6PD to metabolic disorders like Fatty Acid oxidation disorders, Urea cycle disorders etc. There are more than 50 disorders that can be screened for through Newborn Screening.

You should be screened for the most common & widespread metabolic disorders which the screening already does. In addition, if there is any family history then you will require additional tests specific to those disorders which your consulting doctor will decide. Global recommendations also suggest that newborn screenings should be done for those disorders that are prevalent in the particular geographical region the child is from.

In most cases than not, your referring doctor will request these tests for you. But if you wish to do so directly or through your doctor who isn’t familiar with Lilac Insights, you can directly Contact Us & we will facilitate the

The only requirement for newborn screening is the baby should be more than 72 hours of birth and should have taken a feed.

For the baby, there are no risks apart from a heel-prick.

Globally accepted and validated method of newborn screening is a heel-prick method. This involves collecting 3-5 drops of blood from the heel of the baby through a needle prick. The blood spots are carefully placed on an absorbent filter paper, dried and sent to the Newborn screening laboratory.

Since Newborn Screening involves blood sample collection by heel-prick, it is important for the paramedic collecting the specimen to be adequately trained in this method of sample collection else you may have a sample rejection. Most birthing centers who do newborn screening routinely will have adequately trained staff. You may alternatively contact us and we will facilitate the process by sending our trained newborn screening coordinator.

Genetic testing & diagnoses differs from ordinary pathology in several ways, mainly that medical genetics is a separate vertical within the field of medical sciences. The qualifications, background, expertise & technologies required to conduct & understand these tests are different from ordinary pathology. Importantly, the resultant reports are also not simple computer outputs & require human intervention. Doctors & clinicians who do not have a genetic background are not medically equipped to address the complexities in the testing, diagnoses & interpretation of reports of genetic disorders.

No. Specialized labs like Lilac Insights which is a Genetic Health Assessment & Diagnostic Center will conduct prenatal screenings. Genetic screenings need well equipped technical labs and analytical support staff to perform the test and scientific experts to interpret the results. Also, they should be registered under the PCPNDT act.

Choosing the right genetic service provider is the first step to ensure your child’s future is in safe hands. You can click here to see Why Lilac Insights would be a good choice.

You may discuss this with your doctor & upon mutual agreement, provide us with the contact details. We will get in touch with the concerned person & facilitate the process. Being market leaders, there is a high chance that they are already working with us.

Your doctor should be able to address all your questions. You may feel free to get in touch with our genetic counsellors if you wish.

Newborn screening results usually takes 3-4 days after the sample reaches the laboratory. Your doctor should have a digital report before the end of the first week.

All pricings will be provided by your referring doctor.

For getting a screening done, the simplest way is to speak to your consulting Obstetrician or Gynecologist. As Lilac Insights is a market leader, there is a good chance they are already availing of our services. In the event your doctor is not familiar with Lilac Insights, upon mutual discussion you may provide us with your doctor’s details & we will get in touch with them to facilitate the process.

You may also Contact Us directly & we will guide you through the process.

Because Genetic Counselors are not easily available, Lilac Insight has developed a web based platform designed to conduct genetic counseling sessions from the comfort of the patient’s home or the doctor’s clinic. Its purpose is to reach people across the country & the globe, & to address queries that patients and doctors might have resulting from complex genetic scenarios.

The goal is to disburse knowledge, increase awareness and support families either affected by or are at risk of suffering from a genetic disorder.

Just Contact Us by phone or email & we will guide you through the process.

Feel free to Contact Us for additional questions.