Chinese University screening tests to pick up genetic illness in newborns

Chinese University programme will screen babies for a range of disorders to prevent skin problems, mental defects – and even death

Hong Kong’s first screening programme for a range of congenital genetic disorders in newborn babies that can cause a lack of body enzymes, leading to organ damage, has been launched by the Chinese University.

Doctors say early detection and treatment of the conditions, known as inborn metabolic disease, can prevent severe skin problems, mental defects and premature death.

It is estimated that the disorders affect one in 4,000 people but have often been mistaken for other diseases because each has different symptoms and doctors are unfamiliar with them.

“Without early diagnosis, these diseases may lead to death, learning disabilities or other problems. With early detection and treatment we can reverse these outcomes,” Dr Joannie Hui, honorary paediatrics clinical professor at the university, said yesterday.

Before the screening programme, the diseases were identified only after symptoms appeared and in some cases samples had to be sent overseas for testing, she said.

One of her patients, Elton Leung Tsz-chun, developed skin problems when he was just a year old that made him look as though he had been burned. At two, his condition deteriorated and he was sent to intensive care because of excess acid in his blood. Tests on skin tissue samples sent to Europe found he had an inborn metabolic disease.

His condition improved after medication, and although he still has to take medicine, he leads a largely normal life.

In the screening test, a few drops of blood are taken from a baby one to seven days after birth, and tests results are available in four to five days.

The test screens for 30 of the more common and treatable conditions that usually appear in early infancy. The test will be available at the university’s Centre of Inborn Errors of Metabolism at the Prince of Wales Hospital in Sha Tin from July or August.

The tests cost HK$800, upon which no profit is made, said obstetrics and gynaecology professor Leung Tak-yeung.

Initially only babies born in private hospitals will be able to have samples taken in hospital, although other patients can take their babies to the centre.

Arrangements for sample collection in public hospitals are still being discussed.

Yeung said the technology and skills needed for the test had always been available, but there was a lack of funding and co-operation between specialists to set up a screening programme.

The university received a HK$1 million donation from the Joshua Hellmann Foundation for Orphan Disease to start the programme.

It has no quota and several thousand babies are expected to be tested each year.

“Hopefully with this pilot programme, the screening tests will expand to all over Hong Kong in the future,” foundation chairman Christina Hellmann said.

 

Courtesy: Original Article by Lo Wei wei.lo@scmp.com at http://www.scmp.com/news/hong-kong/article/1263811/chinese-university-screening-tests-pick-genetic-illness-newborns

Posted in Newborn Screening | Tagged , , , , , , | Leave a comment

Excerpts From Our February Newsletter- Newborn Screening In India

By: Thomas Mookken

Sample taken from a baby for Newborn Screening Test
A Dried Blood Sample for Metabolic Disorder Screening

I have spent most of this month travelling; attending conferences,
visiting vendors and customers. On February 11 and 12, 2013, a
public health conference was held by the University of Pune, which
I attended.

Two topics of particular interest to the Newborn Screening community were the status of the ICMR project on screening of Congenital Hypothyroidism (CH) and Congenital Adrenal Hyperplasia (CAH) and the introduction of the Rashtriya Bal Swasthya Karyakram (RBSK) by the Government of India. RSBK is an ambitious project for health screening and intervention for children under 18. Sadly, newborn screening for IEMs is not included in the initial list of 9 conditions. CH and Sickle Cell Anemia were 10 and 11, and optional.

Personally, I believe every baby born in India needs to be screened for CH, at least. The ICMR study, whenever published, will most likely have an incidence for CH between 1 in 1000 and 1 in 4000. This translates to between 7,000 and 27,000 babies born every
year that are affected by CH. CH is understood by most clinicians, can be easily treated, treatment is inexpensive and the results are remarkable. I think the benefits of screening for CH far outweigh the costs. Every year this subject is debated, India loses many children to CH, when they could lead normal, healthy lives.

Kerala started newborn screening for 5 disorders in 4 centers in February 2013. Gujarat tendered for the second phase of the pilot program. Slowly, but surely, newborn screening is making progress.

Click here to read the remaining newsletter

Posted in Congenital Hypothyroidism, Dried Blood Spot, Genetic Disorders, Inborn Errors of Metabolism, Metabolic Disorder Sceening India, Metabolic Disorders, Newborn Screening in India, Newborn Screening India, Newborn Screening Indian babies | Tagged , , , , , , , , , , , , , , , | Leave a comment

Join NeoGen Labs on Google+

To raise awareness on Newborn Screening and amplify our voice, NeoGen has started a Newborn Screening in India page on Google+. You can find latest posts and updates on Newborn Screening from all over the world on our Google+ page.

NeoGen also sends out a monthly Newsletter with information on Metabolic disorders, events and conferences on Newborn Screening and other useful updates. To receive our monthly newsletter, send an email to neha@neogenlabs.com.

Our newsletters can also be found on our website at http://www.neogenlabs.com.

Join our Google+ page to support our efforts. If you haven’t already, join us on Facebook and Twitter as well.

 

 

Posted in Inborn Errors of Metabolism, Neonatal Screening, Neonatal Screening for Sickle Cell, Newborn Screening, Newborn Screening in India, Newborn Screening India, Newborn Screening Indian babies, rare disease, Sickle Cell in India | Tagged , , , , , , , , , , , , , , , | Leave a comment

Newborn Screening Awareness Film on the Importance of Bloodspots Available from Save Babies through Screening Foundation, Inc.

Save Babies Through Screening Foundation is proud to announce the release of an important new video entitled: Newborn Bloodspots Save Lives…One Spot at a Time. The film provides information and education on newborn screening using bloodspots and helps shed more light on the important issues around saving and using these bloodspots after screening is completed.

The video can be seen at: https://www.youtube.com/watch?v=Zwb1tQPHmxs

When a bloodspot sample is taken from an infant for newborn screening, a few drops of blood from the heel are collected into circles on a special filter paper. These samples are dried and then sent to the laboratory for screening. The blood-filled circles are known as newborn bloodspots, and they are essential not only for the life-saving screening, but also to assure the quality of the current screening and for development of new screening tests. The video provides a clear discussion of these and other critical issues about newborn screening.

For free DVD copies of this film please contact Jill Levy-Fisch, President of The Save Babies Through Screening Foundation at the address below

About the Save Babies Through Screening Foundation

Comprised of volunteers whose lives have been touched by newborn screening (NBS), Save Babies Through Screening Foundation is the only advocacy organization in the country dedicated to Newborn Screening. SBTS aims to educate parents, pediatric healthcare providers and policy makers about available comprehensive Newborn Screening, the importance of obtaining positive or other test results requiring follow-up actions within five days of birth and the importance of prompt confirmatory testing and treatment/management when required. The Foundation’s mission is to ensure that every newborn in the U.S. be screened successfully, effectively and comprehensively.

Save Babies Through Screening Foundation programs are supported by public contribution’s that help us deliver vital education, community services, and advocacy programs free of charge. Every gift, whether large or small, helps us protect children from the effects of these detectable and treatable disorders.

CONTACT:
Save Babies Through Screening Foundation
http://www.savebabies.org
P. O. Box 42197
Cincinnati, OH 45242
Toll Free: 1-888-454-3383

 

Courtesy: WEBWIRE – Wednesday, January 16, 2013. Original post can be found at http://www.webwire.com/ViewPressRel.asp?aId=168939

Posted in Congenital Disorders, Inborn Errors of Metabolism, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn Screening, Save Babies, Save Babies Through Screening, Save Babies Through Screening Foundation, SBTS | Tagged , , , , , , , , | 1 Comment

Excerpts From Our Final Newborn Screening Newsletter For The Year 2012

2012 proved to be a very productive year for Newborn Screening in India and the “2012 Newborn Screening Symposium” in Mumbai sponsored by NeoGen, Bio-Rad and GE Healthcare was one of the highlights. In this event, clinicians got a chance to hear directly from the parent of an affected infant.

  • 2013 is the 50th Anniversary of NBS in the US. With mandated testing, many parents in the US are unaware of the benefits of newborn screening. In India, we face a similar situation and NeoGen Labs works with our screening partners to inform parents of the benefits of NBS.
  • The Goa Newborn Screening Program will complete 4 years and 6 months in December 2012. As part of the program, we have generated enormous amounts of data. In this issue, we will share some of the data with you on the disorders we have seen in the local population.
  • Kerala is starting newborn screening for a few common disorders in the government healthcare facilities. We expect the program to start in the new year.

To get a copy of our December Newsletter, please email us at                       neha@neogenlabs.com.

Posted in Congenital Disorders, Dried Blood Spot, Genetic Disorders, IEM, Inborn Errors of Metabolism, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn Screening, Newborn Screening in India, Newborn Screening Indian babies, rare disease. rare disorders | Tagged , , , , , , , , , , , | 1 Comment

Newborns in India to be Screened for Neonatal Disorders

Sajimon P S, TNN Jul 10, 2012, 03.18AM IST

ALAPPUZHA: The National Rural Health Mission (NRHM) is all set to start newborn-screening programmes in all government hospitals in the state. This is part of the mission’s bid to save newborn babies from neonatal disorders. The screening tests will be done free of cost.

When an infant is subjected to this test, doctors can identify whether the baby has neonatal disorders before he/she shows any symptoms of it.

NRHM state director M Beena told TOI that they had received state and Central approval for this programme.

“NRHM has allotted Rs 60 lakh for this project and the state health department has sanctioned Rs 44 lakh. The programme will be implemented in all government hospitals soon,” said Beena.

Blood samples will be collected from the baby within 24 hours of delivery. The blood will be allowed to dry on a piece of absorbent paper and it will be sent to the newborn-screening laboratory for testing, said Dr Prabha Chandran Nair, additional director of health service (planning).

The newborn-screening facility will be available in Public Health and Clinical Laboratory, Thiruvananthapuram and regional laboratories in Ernakulam and Kozhikode.

Each lab can test 100 blood samples per day. The result will be available in three days.

“The lab will e-mail the result to the hospitals concerned. We will install all equipment necessary for the functioning of the newborn-screening facility utilizing funds allotted by the NRHM and the state health wing,” said Nair.

“Metabolic and such other genetic disorders will prevent an infant’s normal physical and mental development. Most of these disorders are not apparent at birth. By the time the symptoms appear, the problem would have become almost irreversible. Through this programme, we can detect these disorders and can provide early treatment. We can thus save our children from life-long trauma,” said Beena..

 

Courtesy: The Times of India. Original article posted on Jul 10, 2012 on http://articles.timesofindia.indiatimes.com/2012-07-10/kochi/32617591_1_newborn-screening-genetic-disorders-nrhm

Posted in Congenital Disorders, Dried Blood Spot, Genetic Disorders, IEM, Inborn Errors of Metabolism, inborn metabolic syndrome, Indian babies, inherited disorders, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn Screening, Newborn Screening in India, Newborn Screening India, Newborn Screening Indian babies, rare disease, rare disorders, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , | 1 Comment

Neonatal screening ‘helps prevent impaired growth’

By Noimot Olayiwola/Staff Reporter

The Neonatal Screening Programme in Qatar, established at the Hamad Medical Corporation nine years ago, has screened a total of 135,205 newborn babies for metabolic and endocrine diseases up to September this year, senior consultant and Metabolic Genetic Unit head Dr Tafeg Ben Omran disclosed yesterday.

The Neonatal Screening programme, launched in December 2003, screens yearly up to 20,000 newborns in Qatar for more than 30 metabolic and endocrine disorders as the programme has been recognised internationally as an essential preventive health strategy for the early detection of metabolic and genetic disorders that can affect the long-term health of the baby.

During the screening, a few drops of blood are collected from the heel of a newborn, between 24 and 72 hours after birth and before the baby has left the hospital. According to Dr Ben Omran, of the lot tested between December 2003 until September this year, some 356 babies were detected to be having abnormal results, out of whom 187 were diagnosed with metabolic and endocrine diseases.

He was making a presentation on ‘Neonatal Screening Programme in Qatar: Nine Years of Success’ at the second Sidra Symposia Series on Neonatal Screening of Genetic Diseases and Child Development, yesterday. “We have found many inherited metabolic disorders among the population here, especially within the Qatari community due to consanguinity. However, this is not the only factor for the prevalence of the disorders as we also see cases among isolated sub-populations and tribal groups within the country,” he explained.

The increasing number of cases being detected was also characterised by large family size and rapidly growing population of Qatar as well as due to general acceptance of the premarital counselling and testing programme in the country. “The overall incidence of these disorders in Qatar is 1/750 newborns compared to that of Saudi Arabia, which is 1/966 when they screened 352,656 babies and found some 365 cases,” he stated.

“We have cases of cousins and families with more than one child having classical homocystinuria or autosomal recessive due to inter-marriage between the same family. However, all of those detected with metabolic and genetic disorders under our programme are growing normally,” he said.

“We have grouped all of these 30 plus testings into four namely: chronic neurological diseases; life-threatening episodes; liver diseases like galactosemia; and multi-organ diseases-both acute and chronic such as classical homocystinuria. They are characterised based on their seriousness, understanding of their natural history and pre-clinical study,” he explained.

He mentioned that of a total of 111,713 newborns tested for  classical homocystinuria between December 2003-September 2012, some 40,496 Qatari babies were positive.
“The prevalence rate of homocystinuria among the Qatari population is the highest in the world at 1/1500 because the world figure shows 1/300,000,” the expert mentioned.

He explained that most newborns appear well at birth, but if left unrecognised, the disorders may lead to poor growth, severe illness, brain damage and in some cases death.
“If babies detected are left untreated, they may develop serious health problems such as mental retardation due to brain damage and other life threatening health issues including organ damage and even death,” Dr Ben Omran maintained.

According to him, there are a total of 120 patients presently being followed up at the unit within HMC while some 27 of them are those detected at a late stage. He showcased one of the patients aged 22 years, who also have another four siblings affected by similar disorder and are having severe psycho-motor retardation. “From December 2006-September this year, we diagnosed 144.9 cases of homocystinuria but some 46.4 are doing well after we administer treatment,” he mentioned.

Other speakers and panellists at the Sidra Symposium, moderated by Sidra Medical and Research Centre medical adviser and Medical Staff Services head Dr Joachim Dudehausen, were Germany-based University Faculty Charite dean, paediatrician and molecular endocrinologist Prof Annette Grueters, Supreme Council of Health Public Health Department director Dr Mohamed al-Thani, Berlin-based molecular pharmacologist and Max Delbruck Center for Molecular Medicine director Prof Walter Rosenthal and molecular immunologist and diabetologist Prof Guenther Wess, who is also the German-based Helmhotz Zentrum Munchen chief executive officer and scientific director.

 

Courtesy: Gulf Times (http://www.gulf-times.com/site/topics/article.asp?cu_no=2&item_no=541150&version=1&template_id=36&parent_id=16). Original article by Noimot Olayiwola/Staff Reporter.

Posted in BIOT, Biotin Deficiency, Biotinidase, Blood disorders, Bubble Boy disease, CF, CH, Congenital Adrenal Hyperplasia, Congenital Adrenal Hyperplasim, Congenital Disorders, Congenital Hypothyroidism, Cystic Fibrosis, Dried Blood Spot, Galactosemia, GALT, Genetic Disorders, IEM, Inborn Errors of Metabolism, inborn metabolic syndrome, inherited disorders, maple syrup urine disease, metabolic disease, Metabolic Disorders, methylmalonic acidemia, Methylmalonic Acidemia (MMA), Neonatal Screening for Sickle Cell, Newborn Screening, Newborn Screening in India, Newborn Screening India, Newborn Screening Indian babies, Newborn Screening Qatar, Perkin Elmer Genetics, Phenylketonuria, PKU, rare disease, rare disorders, SCID, Severe Combined ImmunoDeficiency, Tandem Mass Spectrometry, thyroid hormone deficiency | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | Leave a comment

A ‘heeling’ touch to ensure newborns’ healthy future

For months, Naresh and Natasha Pandit (name changed) couldn’t get over the sudden loss of their first child. The baby had suddenly passed away in the middle of the night without even as much as a whimper.

So when the couple had a second baby, neonatologist Dr Tushar Parikh’s first advice was to screen the baby for inborn errors of metabolism (IEM) or in simple words metabolic disorders that are not obvious at birth.

Thanks to the doctor’s presence of mind, the couple learnt that their baby was born with a rare metabolic disorder known as fatty acid oxidation disorder where the body can’t convert fat into glucose for energy. Even a small period of fasting can be fatal and timely intervention can save the baby’s life.

Even though the Pandit’s was a high-risk case, doctors say that urban couples are increasingly opting for newborn screening tests in which a single drop of blood drawn from heel of child can help detect up to 55 inborn metabolic disorders.

“Many couples are showing interest towards these tests. I have two cases where parents were able to detect rare disorders in children even before they became serious. However, if one considers the ‘heel’ tests, then they are very expensive. Cost continues to hinder most parents from taking it up,” said Parikh.

Pediatrician

Dr Amita Phadnis said that the trend is not just becoming increasingly popular but extremely useful in picking up early disorders.

Gynecologist Dr Sanjay Gupte said that nearly one in four parents demand the test for their newborns.

He said, “Since it is so expensive, we insist only high-risk babies such as those whose siblings had untimely death or have problems in neonatal stage to undergo all the tests. However, these days, many parents read about it and come to us demanding it be done,” he said.

One of the several companies offering the tests is stem cell bank BabyCell that offers the tests at nearly Rs5,000. Chief scientific Officer Satyen Sanghavi said, “We introduced the newborn screen testing in Pune less than a year ago and 330 babies have undertaken the test. We are trying to promote awareness through hospitals, camps, mother care forums, etc.”

Pediatrician Dr Saumya Adhicary pointed out that in most of the developed countries, newborn screening was mandatory. “The concept is gaining momentum but slowly and only in paying class. But this should be done universally and be part of health budget. Just like the Goa government’s ‘Heel to Heal’ programme where all babies born in government hospitals are screened for such metabolic disorders. Such a programme is needed to give babies the best chance they have,” she said.

Neonatologist Dr Umesh Vaidya said that even if parents are unable to afford all the tests, a few of them are most important such as thyroid screening. “If undetected, thyroid disorders can lead to mental retardation in children. At KEM hospital, we ensure that children undergo five basic tests when they come under our care. As far as heel prick test goes, not all parents can afford it though the numbers are picking up these days,” he said.

“Even though the disorders detected in this test such as amino acid disorders, fatty acid metabolism disorders are rare, we do recommend screening as it is investing in child’s health,” he added.

 

Courtesy: DNA Daily News & Analysis. Original article published on Saturday, Sep 8, 2012 at http://www.dnaindia.com/pune/report_a-heeling-touch-to-ensure-newborns-healthy-future_1738413 on ; by Alifiya Khan

Posted in BIOT, CAH, CF, CH, Congenital Disorders, Congenital Hypothyroidism, Cord Blood Stem Cells, Dried Blood Spot, GALT, Genetic Disorders, Goa, IEM, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant Deaths in India, inherited disorders, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborn Screening in India, Newborn Screening India, Newborn Screening Indian babies, Newborn Screening symposium, Newborns, PKU, rare disease, rare disease. rare disorders, rare disorders, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 1 Comment

Screening the genes

Low- and middle-income countries are catching up on the use of screening for birth defects. Jane Parry reports.

Courtesy: World Health Organization. Original article by Jane Parry, available on http://www.who.int/bulletin/volumes/90/8/12-030812/en/

The application of genomic research to public health services in the last decades has led to more accurate and faster diagnostic tests, the development of new drugs and to the early detection of genetic disorders.

But while wealthier countries have long been able to screen for the more common congenital disorders, low- and middle-income countries have been slower on the uptake. Lack of resources, lack of data on the true magnitude of the problem and lack of trained health professionals are only parts of the reason for this slow uptake.

Congenital disorders can be perceived as less important than other public health problems. In some countries, fears of stigma and legal or religious restrictions on abortion are barriers to screening programmes.

“In poorer countries, neonatal and infant mortality is mostly due to infectious diseases, and lack of antenatal care, so genetic diseases are not perceived as having enough importance for governments to allocate resources to establish genetic services,” says Professor Lavinia Schüler-Faccini of the Genetics Department of Universida de Federal do Rio Grande do Sul in Porto Alegre, in Brazil.

“Genetics is largely perceived as extremely expensive and accessible to a minority of people. However, in poorer countries, the population also tends to have lower health education, and this frequently increases pregnancy risks.”

The situation is now changing. The approval of a resolution on the prevention and care of birth defects by the World Health Assembly in May 2010 and publication in 2011 of the first global report on community genetic services in low- and middle-income countries by World Health Organization (WHO) mean that genetic services could become more widely accessible.

Community genetic services aim to prevent congenital disorders and genetic diseases and to provide diagnoses and counselling in the community for affected families. The WHO report highlighted some countries that have adopted prevention programmes for congenital disorders, such as Bahrain, Cyprus and the Islamic Republic of Iran, but found that congenital disorders – more commonly known as birth defects – constituted a “major health problem worldwide” and that there were not enough services in low- and middle-income countries to prevent and manage these conditions.

Birth defects are defined by WHO as “structural or functional abnormalities that are present from birth, whether recognized at birth or later”. Some low- and middle-income countries – particularly in Africa, eastern Mediterranean and south-eastern Asia – combine limited prevention and care with high prevalence of particular congenital disorders, such as haemoglobinopathies; disorders that affect the way blood carries oxygen.

Consanguinity – marriage between people who are related to each other – can increase inherited diseases, as can advanced maternal age at conception, which increases chromosomal trisomies such as Down syndrome.

Screening and prevention programmes for genetic disorders can have other public health benefits through “simple and wide-ranging interventions such as folic acid supplementation; immunization, screening and control of diabetes and obesity; and prevention of smoking initiation,” according to Dr Lorenzo Botto, professor of Paediatrics at the University of Utah School of Medicine in the United States of America and chair of the executive committee of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR).

Such measures can often be implemented within existing maternal and child programmes, and in time the same mechanisms should be used to give parents access to genetic counselling on an equitable basis, according to Dr Anita Kar, director of the Interdisciplinary School of Health Sciences at the University of Pune, India.

India has yet to develop best practices for genetic counselling, she says. There are no guidelines as to when genetic testing should be done, there are no trained genetic counsellors or courses to train them. There are no accreditation bodies or best-practice guidelines for laboratories conducting genetic testing. However, research in the field is advancing.

“We’re putting a lot of good work into basic research but what is lacking is the step from the bench to the population,” she says. “Genetic counselling also has to be developed through local research because of the unique cultural and social context. We have to start an education programme where people are made aware of genetics as a science that is crucial for people’s well-being.”

“The resolution and report have been very successful in raising the profile and galvanizing action [to make these services available] across the world,” says Hilary Burton, director of the Foundation for Genomics and Population Health (PHG Foundation), an independent charity that seeks to make the benefits of science and genomics available in all countries. The foundation runs Born Healthy, a programme to help low- and middle-income countries develop genetics and other services to prevent birth defects. Born Healthy includes a toolkit that health professionals and policy-makers can use to determine the burden of congenital diseases based on the best available international epidemiological data and to formulate strategies for prevention, treatment and care.

“Birth defects are one of the main areas where genetics is of interest to developing countries and they need to have in place good basic preconception and prenatal care,” says Burton. “How to build a programme of prevention of birth defects, part of which is genetics, is something that public health genomics experience can really help with.”

PHG Foundation’s Toolkit for Health Needs Assessment in Congenital Disorders was used in Brazil by Schüler-Faccini to demonstrate that genetic services are cost-effective. “[It showed] that the cost of setting up genetic services and prevention of birth defect programmes can represent less of an economic burden than doing nothing, since the burden of congenital anomalies is much higher when not properly treated and prevented,” says Schüler-Faccini.

In Brazil, neonatal screening has existed for more than 15 years, comprising tests for phenylketonuria, congenital hypothyroidism, sickle cell disease, and, in some parts of the country, cystic fibrosis. This screening is paid for under the SistemaÚnico de Saúde (SUS), or Unified Health System, as is treatment when disease is detected. There are referral hospitals and genetic centres where patients are referred for diagnosis as well as for treatment, if necessary, explains Schüler-Faccini.

However, access to prenatal screening is more limited, and Brazil’s situation highlights some of the contentious issues that can arise due to a country’s specific legal and religious context, as well as the structure of its health system. Ultrasound services are available under the SUS in university and tertiary hospitals. In addition, a quarter of the population has supplementary private health care, making prenatal ultrasound at 18–20 weeks accessible for most pregnant women.

As for genetic antenatal testing, first trimester screening – such as serum α-fetoprotein and nuchal translucency, which can be used to detect Down syndrome in the fetus – are only available in university hospitals and therefore accessible to less than 1% of the population. “For women with supplementary private health plans, screening is available only in more developed cities, while prenatal chromosomal or genetic diagnosis is only accessible in specialized hospitals,” says Schüler-Faccini.

Whereas in some countries abortion would be one option open to a pregnant woman undergoing prenatal screening, in Brazil abortion is illegal. Even if the option to terminate the pregnancy is not available, prenatal screening is invaluable. “Firstly, we know that in more than 90% of cases, we will reassure the mother. Secondly, advance knowledge that a child has a chromosomal disorder or a birth defect is an opportunity to prepare a suitable birth. For example, if the child has a heart defect, it is important to select an adequate hospital. From the psychological aspect, it gives the family time to prepare for the situation.”

 

 

Posted in Congenital Disorders, Genetic Disorders, genetic mutation, IEM, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant Deaths in India, inherited disorders, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Deaths, Newborn Screening, Newborn Screening in India, Newborn Screening India, Newborn Screening Indian babies, rare disease, rare disease. rare disorders, rare disorders | Tagged , , , , , , , , , , , , , , , , , , , | 1 Comment

Newborn Screening Symposium 2012 RECAP

The symposium held in Mumbai on Sep 30, 2012 was a resounding success with over 70 people attending the session. The highlight was listening from the parents who were able to bring the problems they faced in treating their child, to the fore. The panel had a spirited discussion on whether we are ready to start universal screening in India. There was agreement that we should start but differing views on whether the private sector or the public sector should take the lead in starting.

Posted in Newborn Screening | 1 Comment