Current and future perspective of newborn screening: an Indian scenario   

Current and future perspective of newborn screening: an Indian scenario
NBS is aimed at timely identification of disorders that affect neonates so that irreversible damage can be prevented. Challenges faced by the NBS program in India can be resolved by starting the program in a planned manner, and focus should be on technical, medical, and logistic support. Nationwide NBS program should be started for CH, as its prevalence is quite high in India. Once the program picks its pace, experience gained by different laboratories can be applied to the development of policies for sustainability of the NBS program. Awareness is the most important component of NBS and must be started in the very first step before development of infrastructure. After successful implementation of the NBS program, focus should be on the extension of screening panel according to the prevalence of various disorders, establishment of new laboratories, management of sick neonates, and development of new therapies.
The NBS program at Chandigarh was started in 2007 with the objective to know the exact prevalence of common metabolic disorders in this region and to develop policies and protocols to initiate NBS in a government setup. After reviewing the literature, a panel of three disorders, namely, CH, CAH, and G6PD deficiency, was prepared. Universal heel prick method was adopted for sample collection between 24 and 48 h of birth after pre-test counseling of the parents on the necessity and benefits of screening. The total number of newborns screened until December 2014 is 25,395 out of 28,272 born at GMCH-32. Coverage of neonates under the NBS program is 89%. The remaining 10% who did not undergo screening include still born (4%), refusal (0.1%), LAMA (left against medical advice) (0.1%), early discharge (2.3%), and NICU admission (3.2%). Incidence of disorders screened in our study is
  • Congenital hypothyroidism – 1:1400
  • Congenital adrenal hyperplasia – 1:6334
  • G6PD deficiency – 1:80 with a higher prevalence in males than in females.
The NBS program at Genetic Centre, GMCH-32, has been evolving over a period of years, and after refinements and re-refinements in sampling collection, sample analysis, and follow-up, we have successfully reduced the false-positive rate. NBS deals with rare disorders, and benefits cannot be easily shown without very large studies; therefore, we are extending the NBS program to other government hospitals of Union Territory, Chandigarh. Along with this, we are planning to add more disorders in the screening panel, namely, galactosemia, phenylketonuria, and biotinidase deficiency.
Newborn screening: Need of the hour   2021-06-02

Newborn screening (NBS) is the process by which newborns are screened just after birth for disorders that can cause severe illness or death unless detected and treated early. At present, there is no national NBS program in India. Although the exact incidence in India is not known, approximately 4:1000 and 5:1000 are estimated to have hearing defects and congenital heart abnormalities, respectively, whereas the incidence of IEMs is estimated to be approximately 1:1000. This high incidence is due to high prevalence of consanguinity in our country. If undiagnosed and untreated many children develop mental retardation, learning disabilities, autism, dyslexia, behavioral abnormalities, and scholastic backwardness later in life. There is also considerable burden-financial and emotional on the parents to diagnose, treat, and manage these children. The most rational and cost-effective way of preventing such tragedies would be to have a NBS program which will detect most of the preventable or treatable, if not all IEMs and other genetic disorders. Hence, all hospitals in urban areas in India should initiate NBS at least for the common disorders: CH, CAH, and G6PD deficiency.
The expression of genetic disease in India

Nearly 5-15 per cent of newborns are sick due to metabolic diseases.

Indian Scenario

1 in every 1,000 newborns was observed .....

Greatest Burden


Importance of screening in India,

Frequency of Genetic Disorders


Neonatal thyroid dysfunction-lessons from Indian experience

Burdened by rare diseases

Prevalence of Inborn Errors of Metabolism in Neonates

Newborn Screening for Congenital Hypothyroidism in India: Lets Just Do It!

Current and future perspective of newborn screening: an Indian scenario

Universal Implementation of Newborn Screening in India

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