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Thread: Why should any child have Newborn Screening in India?

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    Arrow Why should any child have Newborn Screening in India?

    View Point: Give screening to every newborn


    Neonatal Deaths is a serious concern both in developing and developed counties, although its magnitude varies significantly between the two; being notably higher among developing countries. According to one estimate, nearly 5 million Neo-natals die each year in the world, of which 96% are in the developing countries (WHO1996). Effective reduction of such high neonatal death rates remains a major challenge. In India, every day 30,000 children are born and 1 in every 1000 newborns are born with Neonatal disorders, this makes 30 newborns per day with neonatal disorders.


    Even though neonatal mortality is a serious problem, there has been little attention paid to understanding its causes and determinants especially in developing countries like India. The lack of interest in neonatal death has due to variety of factors. Significantly, the causes of Neonatal are usually unattended by health personnel.


    What is Neonatal Disorder?


    Neonatal Disorder is related to or affecting the infants during the first month after birth. 1 in every 1000 newborns in India, i.e. 30 children in a day, suffers from neonatal disorders. Infants born with any of these diseases are apparently healthy looking and by the time symptoms appear, the problem is almost irreversible meaning could not be treated. Though family history, history of recurrent abortions, previous child with mental retardation, history of sudden infant death in previous in previous sibling, mother with significantly low intelligence etc is high risk factors; it is commonly observed that some of the disorders mentioned above are fairly common in healthy families without any history.


    What is Newborn Screening?

    Newborn Screening is a simple blood screening used to identify many life-threatening genetic illnesses before any symptoms begin.


    Why should any child have Newborn Screening in India?


    Newborn Screening is important because a baby with one of these illnesses will appear perfectly healthy and by the time symptoms are visible, irreparable damage can occur. Damage such as mental retardation or many times, death. The screening of a newborn is almost imperative in India because if a child is diagnosed with such disorder when the damage has already occurred, then the cost of bearing such child is very high. Moreover the child with such disorder requires special diets, which is unavailable in India.


    If a family never had any birth defects in the family, why should they go for this screening?


    Parents who have already had healthy children don't expect any problems with birth defects and they are almost always right. Since these disorders are not very common, the chances are excellent that your child may NOT have one of these disorders. However, the few children who are born with these problems are generally from healthy families. By screening every baby after birth one can be sure that each infant who has a disorder can be identified and started on early treatment.


    What is a child's chance of testing positive for one of the disorders?


    The baby's chances are 1 in 1,000 births.



    How are the screenings done?



    All of the screens are performed on one tiny sample of blood obtained by pricking the baby's heel. After the infants' heel is stuck the drop of blood that forms is placed on an absorbent card and allowed to dry. Once it is dried it is mailed directly to the lab.


    How soon after birth should a child be screened?


    The sample is usually taken on the day of discharge from the hospital or no later than 48 hours of age. The blood is allowed to dry on a piece of absorbent paper, which is sent for screening to a special newborn screening laboratory.


    How a child can be affected, if not screened at proper time?


    The child can have the following disorders:

    1. Mental Retardation

    2. Recurrent Chest Infection

    3. Anemia

    4. Seizure/ fits

    5. Jaundice

    6. Milk Intolerance

    7. Vision & hearing loss, skin infections

    8. Development & growth abnormalities, masculinization in females, death

    9. Poor growth, low metabolic rate

    10. Severe brain damage, cataracts, osteoporosis

    11. Pneumonia


    What does one do if a child's results are positive for one of these disorders?


    This question is a very individual one and can only be answered by a trained professional who has detailed information from your family's health history. The physician or a genetic counselor at a center where a child is evaluated will help answer this question.


    A baby seems very healthy. Are the screenings still necessary?

    Yes. Most infants with birth defects screened by this program show no obvious signs of disease immediately after birth. In each of these disorders there is an "invisible" problem in one of the many chemicals, which are produced naturally in the baby's body. With special laboratory screenings one can identify the infant who may have one or more of these disorders and can alert the doctor to the need for special care of the infant. Usually this can be done before the problem has time to cause damaging effects.


    "By intervening early in a child's life, you can reduce morbidity and mortality. Basically, you're going to save the lives of children and prevent mental retardation and severe physical disabilities. People think it costs money, but you really save lives. Although there are steps you can take to prevent birth defects, remember that a birth defect can happen even if you or your partner have no history of birth defects in your families or if you've had healthy children in the past. Moreover this assignment of educating the young parents goes to the doctors specially the Pediatrics, GP and the Gynecologist, who advocate such tests to the parents who are oblivious to such Neonatal disorders", stated Dr. Sanjeev K. Chaudhry, CEO SRL Ranbaxy - India's largest Pathology Laboratory Network.

    Dr. Sanjeev K. Chaudhry

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    What you should Know about Newborn Screening?


    General Info:


    Quality assurance and proficiency testing of newborns for preventable diseases.


    If genetic disorders are not accurately diagnosed and treated, they cause mental retardation, severe illness, and premature death in newborns.


    Within 48 hours of a child's birth, a sample of blood is obtained from a "heel stick," and the blood is analyzed for treatable diseases, including phenylketonuria, sickle cell disease, and hypothyroidism. More than 98% of all children born in the United States are tested for these disorders.


    The sample, called a "blood spot," is tested at a laboratory. CDC's Environmental Health Laboratory evaluates the performance of all participating laboratories (73 domestic and one or more laboratories in 53 other nations), ensuring that they analyze the blood spots correctly and providing technical assistance to resolve any diagnostic problems.

    Each year, at least 4 million babies in the United States are tested for these diseases, and severe disorders are detected in about 3,000 newborns. In India this is far greater. 1.2 million babies die in India in their first month. Two newborns die every minute in the country (Times of India-24/04/2006).>>



    Accurate screening ensures that-

    ---Affected babies are identified quickly.
    ---Cases of disease are not missed.
    ---The number of false-positive results is minimized.
    ---Early treatment will begin that will prevent negative and irreversible
    ---health outcomes for affected newborns.

    Thousands of children are living healthy and productive lives as a result of newborn screening and the CDC Environmental Health.


    Newborn screening

    Newborns may have the following birth defects and finding these defects and giving them early treatment prevents serious complications, such as mental retardation, permanent disabilities, or even death.

    PKU
    Congenital Hypothyroidism
    Galactosemia
    Sickle Cell Disease
    Biotinidase Deficiency
    Congenital Adrenal Hyperplasia
    Maple Syrup Urine Disease (Msud):
    Homocystinuria
    Tyrosinemia
    Cystic Fibrosis
    Toxoplasmosis

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    ICMR to conduct first nation-wide newborn screening for genetic disorders


    Parents of seven-year old mentally challenged Kiran (name changed) wonder why their son was not detected with phenylketonuria (PKU), a rare genetic disorder, when he was a newborn. “If Kiran was screened for certain genetic disorders, while he was in the NICU for several days just after his birth, my son would be leading a normal life today,” laments Kiran’s distraught father. Studies reveal that about 1/3rd of paediatric mental retardation cases stem from the inability to detect a metabolic disorder in early childhood.


    Taking cognisance of the grave situation, the government will introduce the first nation-wide mass screening programme in newborns to detect “Inborn Errors of Metabolism (IEM),” a group of rare but potentially lethal genetic disorders. IEM, in which the body’s metabolism fails, is usually caused by defects in the enzymes involved in the biochemical pathways.

    Project to screen one lakh newborns

    The pilot study to be conducted by the Indian Council for Medical Research (ICMR) will be executed by a task force comprising clinicians, paediatrcians, geneticists and lab scientists. According to a research officer of ICMR, associated with the project, “The programme is in the preliminary stage and discussions are still on about the various modalities of the project.”

    The pilot study would probably cover over 1,00,000 newborns from Mumbai, New Delhi, Cochin, Hyderabad. The project costing over Rs one crore and is likely to be completed over two years, added the official.

    Explains Dr I C Verma, head, department of genetic medicine, Sir Gangaram Hospital, New Delhi and a member of the task force, “The study is aimed at an early detection and intervention of some genetic disorders along with studying the prevalence of these genetic disorders in different parts of the country. Though five to six private labs are screening newborns for genetic disorders at a cost, the ICMR programme is the first nation-wide screening, which is free.”

    Of the over thousand existing metabolic disorders, the task force will shortlist around three to four disorders for screening. “Though no consensus has been arrived at on the specific disorders to be screened, the probable ones during the first phase of the study are Congenital Hypothyroidism and Congenital Adrenal Hyperplasia, which are common and for which intervention and management are possible,” the ICMR official added.

    Says clinician and member of the task force Dr Sharad Gogate, “The programme will only detect disorders which are treatable. It is futile to conduct screening programmes for such disorders, if we cannot correct the underlying physiology.” If the pilot project is successful, then a proposal of an expanded mandatory programme covering the entire country and screening more disorders will be mooted to the planning commission. “From a research project, it would thus evolve to be a service project, and can then be included in the maternal child health programme so as to encompass the entire country,” adds Dr Gogate.

    Logistics

    Hospitals, both private and public, having a good number of newborn deliveries, infrastructure for genetic counselling and diagnostic labs would be selected for the project. For hospitals having sufficient newborn delivery but lacking in infrastructure and manpower, resources of other centres would be pooled, adds Dr Gogate.

    The screening would involve biochemical assays and not DNA-based analysis. For the test, a drop of blood from the heel of a newborn would be collected and allowed to dry on a filter paper before sending it for screening. The test will be conducted after three days of the birth of the newborn, when the metabolic activity of a newborn takes over the body functions.

    The task force is still considering whether it would restrict the programme to screening and not include confirmatory tests like plasma amino acid analysis, urine amino acid analysis, urine organic acid, conducted in metabolic disorder labs. It is sometimes difficult to diagnose IEM in neonates as they tend to get misdiagnosed with sepsis or other disorders. Sepsis often accompanies IEM and may confound diagnosis further, an expert informs.

    The various challenges in implementing this project are dealing with funds crunch, locating hospitals which retain newborns for more than three days and convincing the hospitals to participate in the project, which is on no-profit-basis. Though the task force was constituted in 2002, the project faced a few hiccups because of paucity of funds. The task force is soliciting to buy diagnostic kits at a reduced price to tide over the funds crunch.


    The programme will only detect disorders which are treatable. It is futile to conduct screening programmes for such disorders, if we cannot correct the underlying physiology


    clinician and member of the ICMR task force Of thousands of children in India who die of Sudden Infant Death Syndrome, the death of an infant below one year, around five to ten per cent have IEMs. Around 15-20 per cent of new born babies admitted to NICUs may have IEM


    consultant in paediatric metabolic disorders, MGM Hospital, New Bombay Some of these disorders are preventable and treatable, and if detected in time, can help reduce morbidity and mortality. Detection of genetic disorders in newborns, aid in saving their lives, through proper dietary management
    Dr Prochi F Madon, geneticist, dept of Assisted Reproduction and Genetics, Jaslok Hospital

    First nation-wide programme


    IEMs, which are rare individually but collectively common, can appear anytime and form an important cause of morbidity and mortality in infants and children, says Dr Verma, former head of department of genetic medicine at All India Institute of Medical Sciences, New Delhi.

    No comprehensive nation-wide study on prevalence of IEM has been conducted in India so far, except some hospital and state studies. Is the situation that acute? Statistics definitely say so. Of 25 million babies born in India every year, it is estimated that 1 in every 2000 newborns suffers from metabolic disorders. The incidence varies from community to ethnicity to religion to location. For instance, while hypothyroidism is prevalent in sub-Himalayan areas, sickle cell disease is common in the tribal populations of Maharashtra, Gujarat, Orissa, Madhya Pradesh, Kerala and Tamil Nadu, including the non-tribal population from Chattisgarh State, state various studies.

    According to Dr Anil Jalan, consultant clinical and biochemical geneticist and a specialist in paediatric metabolic disorders, MGM Hospital, New Bombay and a member of the task force, “Of thousands of children in India who die of Sudden Infant Death Syndrome, the death of an infant below one year, around five to ten per cent have IEMs. Around 15-20 per cent of new born babies admitted to NICUs may have IEM.” He has observed that around 17 per cent of babies in NICUs have IEM like Galactosemia, Biotinidase deficiency, MSUD, Propionic acidemia, Methyl Malonic acidemia, OTC deficiency, which are much more common in India than the western world.

    Screening for metabolic disorders in newborns, pioneered by Prof Robert Guthrie in 1960, has now become mandatory in the US, Europe and Southeast Asian countries like Australia, China, Korea, Thailand, Phillippines, Singapore and Bangladesh.

    The disorders mostly screened are phenylketonuria and congenital hypothyroidism, galactosemia, sickle cell disease, congenital adrenal hyperplasia, maple syrup urine disease (MSUD), homocystinuria, and biotinidase deficiency.

    Criticism

    Welcoming the ICMR programme, Dr Prochi F Madon, consultant geneticist, department of Assisted Reproduction and Genetics, Jaslok Hospital, says, “Some of these rare disorders are preventable and treatable, and if detected in time, can help reduce morbidity and mortality. Detection of genetic disorders in newborns, aid in saving their lives, mainly through proper dietary management.”

    The screening programme is the first step towards addressing a gamut of issues plaguing the diagnosis and treatment of genetic diseases. “To make the diagnosis and treatment more affordable, the government needs to reduce custom duty on kits, medial equipment and dietary supplements, which is a whopping 30 to 35 per cent,” says Dr Jalan.

    Dietary therapy is the mainstay of treatment in phenylketonuria if detected in the newborn, and can help to prevent mental retardation. “Homocystinuria, galactosemia, glycogen storage diseases, certain varieties of MSUD, urea cycle disorders and organic acidemias also require dietary modification,” explains Dr Madon.

    The cost of a can of dietary supplement is Rs 2500 and above. With three to four cans required for a month, the cost of dietary supplement is a staggering Rs three lakh and above for a year, making it unaffordable. “As most parents find it difficult to afford these diets, it is therefore important that these diets be exempted from customs duty,” suggests the ICMR official.

    Various Prevalence Studies


    1 In 2002, Hyderabad-based Centre for DNA and Fingerprinting Diagnostics (CDFD), aided by Dr Reddy’s Foundation for Human Development had conducted DNA tests on about 5,000 newborns in four government hospitals to detect genetic disorders. Using chromatographic (TLC and HPLC), electrophoretic (cellulose acetate and agarose) and ELISA based assays for screening, the study revealed a high prevalence of congenital hypothyroidsm (1 in 1700) followed by congenital Adrenal Hyperplasia (1 in 2575) and Hyperhomocystenemia (1in100).

    2 According to a screening programme held at AIIMS, the four commonest disorders in northern India were homocystinuria, alcaptonuria, maple syrup urine disease and nonketotic hyperglycinemia.

    3 The first newborn screening was carried out in 1980 in Bangalore for aminoacid disorders involving 125 thousand newborns. Screening the high-risk populations, Homocysteneimia, hyperglycinemia, MSUD, PKU, Hypothyroidism and G6PD deficiency were found to be the common causes of mental retardation.


    The answer lies in developing indigenous dietary supplements. Several nutritional research institutes and centres in the country are already on the trail for developing indigenous supplements. “The supplements are effective and cheap, but they have to be tried on clinical trials and marketed at the earliest,” avers Dr Gogate.

    Experts point out that policy makers need to tread with caution with MNC’s hardselling diagnostic kits, equipment and diet supplements in the Indian market. “With 25 million babies born per year, India forms one sixth of the market for such products. But where is the infrastructure? We have only a few experts in metabolic medicine to deal with such newborn screening, confirmatory tests and therapy,” says a concerned paediatrician.

    Awareness about symptoms of IEM and its initial diagnosis among physicians and paediatricians also needs to be enhanced.

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    Newborn Screening: A Way to Ensure Good Health for Newborns


    Essentially, newborn screening is a major public health responsibility for detection of treatable and inherited metabolic diseases.

    Newborn screening is the practice of testing every newborn for certain harmful or potentially fatal disorder which is not apparent otherwise at birth. Many of these are metabolic disorders, often called as Inborn Errors of Metabolism, which interfere with the body's use of nutrients to maintain healthy tissues and produce energy. Other disorders that may be detected through screening include problems with hormones, vitamin levels, or the blood. In general, metabolic and other inherited disorders can hinder an infant's normal physical and mental development in a variety of ways. Also, parents can pass along the gene for a certain disorder without even knowing that they are carriers.

    With a simple blood test in which blood sample is taken by a heel prick from the foot of the baby, doctors can tell whether newborns have certain conditions that could eventually cause problems. Even though these conditions are considered rare and most babies are given a clean bill of health, early diagnosis and proper treatment can make a difference between lifelong impairment and healthy development.

    A Mandatory Programme

    Newborn screening is given lot of importance by the Governments of several countries. Essentially, newborn screening is a major public health responsibility for detection of treatable, inherited metabolic diseases. It consists of six major aspects: education, screening, follow-ups, diagnosis, management, and evaluation.

    Universal screening for metabolic disorders today is mandatory in the US, Europe and many countries in both North and South Asia.

    The programme at a pilot scale in India has been initiated at the Center for DNA Fingerprinting and Diagnostics (CDFD) at Hyderabad and caters to screening for several of these disorders.

    Indian Scenario

    As per the data available from the pilot screening programme at CDFD, Hyderabad, the most commonly found disorder in India is congenital hypothyroidism with an incidence of one in 1,700 babies. This is a disorder in which affected babies do not have enough of thyroid hormone and therefore develop symptoms of mental retardation and developmental delay. This disorder can be detected immediately after birth, and the baby can be treated with oral doses of thyroid hormone to permit normal development. Similarly, a metabolic disorder like galactosemia and congenital adrenal hyperplasia can be treated simply by substituting the diet or supplying the deficient hormone respectively. Other disorders which are common and treatable are biotinidase deficiency, maple syrup urine disease and phenylketonuria. Also, wherever the medical intervention is not possible, the detection of these disorders early in life is useful in genetic counseling of the affected family, which in turn can help prevent the recurrence of similar births. As per experts, the combined incidence of these disorders is one in every 2,000 newborns in India. The bottom line is that screening for these disorders will certainly reduce the mortality and morbidity associated with them.

    Some Common Metabolic Disorders

    Refer to the table (Page 42) which in brief gives information on different disorders, symptoms and the available treatment for some of the common treatable disorders, for which screening is currently mandatory in the US, Europe and several other countries.

    Screening of the disorders should be mandatory for all the newborns to ensure that every newborn is screened for all the common treatable metabolic disorders.

    Prevention is Better than Cure

    Although screening is a cost-intensive exercise, the costs far exceed the benefits and cost saving realised in reducing the morbidity of the disease. Government support will go a long way in establishing and creating awareness of these disorders affecting thousands of children in the country. Many more screening programmes need to be initiated in all major cities as nodal centers to which testing samples can be transferred from the peripheral health centers. This will help cover 90-95 per cent of newborns in rural and urban areas. Such a programme should be akin to the immunisation programme that is successfully implemented all over India.

    Awareness and Screening in India

    Also, unlike the infectious diseases which have taken the center stage in health policy matters, the issue of diseases related to inborn metabolic disorders have not attracted the attention, partly because of the complexity of the problem in terms of the entire gamut of the diseases which come under this category, the lack of awareness among the concerned sections of clinicians who encounter such cases and as well as lack of technical expertise and facilities. It is ideal to have a national policy to screen the newborns, particularly in high-risk communities and Neonatal Intensive Care Units (NICU) babies and also add curriculum in the medical education programmes concerning inborn errors of metabolism.

    In general, newborn screening helps not only to identify congenital disorders, it also helps improve a newborn's health by offering early detection and treatment. With the result, the impact of the disease is minimised and the patient essentially gets a normal life.



    for More details:


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    Express Healthcare
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    Newborn Screening – What ails India?


    Out of the approximately 25 Million new births in India, there are an estimated 1.6 Million babies born with birth defects including about 620,000 with genetic disorders. Despite very good evidence that early detection of conditions, such as congenital hypothyroidism, Phenylketonuria, Homocystinuria and others, is absolutely essential for appropriate management to be instituted there is no mandatory newborn screening program in place.

    While it may be a fatalistic attitude of many people to accept the misfortune of families that have an affected baby, this is no longer justifiable in the many advanced medical centers, both government and private, where thousands to millions of babies are born every year. It has to be accepted standard of care for those managing ante-natal cases to make the parents aware of the possibility of genetic disorders and also that a simple test exists to detect many of the conditions.

    I am sure that many of the hospital laboratories are perfectly capable of performing a TSH screen using EIA or biochemical tests for some of the other inborn errors of metabolism (IEM), but how many hospitals have a mandatory policy of testing every new born for these conditions? As parents paying for a safe delivery – for both the mother and child – not getting the information about the screening tests from the care givers can be a case for medical negligence.

    Clearly it is not the technology that is preventing Indian born babies from getting tested. There are many reference labs in India including NeoGen Labs and Dr Lal PathLabs that offer the complete complement of tests including Tandem Mass Spectrometry that screen for about 50 genetic disorders, but anecdotal evidence is that hospitals use these services quite rarely – and then only for testing already sick babies – too late for the right management to be started.

    It cannot be that our expert neonatologists and pediatricians are unaware of the advantages of early newborn screening - our NICUs are full of babies who are bearing the brunt of our of healthcare system not doing their job even before they were born. Taken individually all the players seem to be doing their job – the labs are offering the tests, the pediatricians are taking care of the sick babies, the obstetricians are making sure that the birth is OK, the health ministry focusing on the more prevalent problems like infectious diseases and malnutrition. However this is of little use to parents who get an affected baby with Congenital Hypothyroidism who is mentally retarded because the system failed them. It will probably need some well publicized court cases to get our hospitals to start doing what they should in the first place – offer newborn screening to all babies!

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    Default Comprehensive NBS in Goa

    Our company, NeoGen Labs, is probably the only company in India focused on Newborn Screening. We have actively marketed and tried to raise awareness of routine NBS in the Indian market and has been facing an uphill task. We screen for over 50 disorders and have licensed the best tandem mass spectrometry interpretation data in the world, based on over 3 Million babies. We follow strict quality guidelines to reduce false positives and negatives and, also, have a custom 903 filter paper and pouch designed for us by Whatman to maintain sample integrity.

    On to weightier issues. There is no point in detecting an IEM, if a patient in India testing positive for a disorder cannot be followed up and treated. We have addressed those issues and have relationships with diet companies to provide diets. One of the issues is of price of diets and we have been working that with the manufacturers.

    Most of you may not be aware that the State of Goa has a comprehensive NBS program covering 50 disorders (our panel). All babies born in Goa government healthcare facilities get the screen done for free. We have run the program for 6 months and manage all aspects ranging from patient awareness, screening, confirmatory testing, tracking patients and sourcing diets. The incidence of IEMs run about 1:500 (as opposed to 1:2500 in the world) and we have seen Thyroid, G6PD, VLCAD and UCDs.

    There are three hospitals that have contracted with us to do routine screening. If a patient is counseled, they are more than happy to do the screen. It ultimately comes down to AWARENESS. My belief is that in another 5 years NBS will be routine but it won't be an easy path to get there.

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    really new information for me . i didnt knew this .........thanks alot

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