Tag Archives: Neonatal Screening

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 … Continue reading

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 , , , , , , , , , , , | 1,620 Comments

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 … Continue reading

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 , , , , , , , , , , , , , , , , , | 1,821 Comments

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 … Continue reading

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 , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 2,189 Comments

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 … Continue reading

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 , , , , , , , , , , , , , , , , , , , | 1,248 Comments

Information for Parents- Newborn Screening in India

In India, Newborn Screening is not mandatory and is not available in all the hospitals. Chances are, if you are having a baby, your hospital may or may not have Newborn Screening Test available. It’s important to note here that … Continue reading

Posted in BIOT, Biotin Deficiency, Biotinidase, Bubble Boy disease, CF, CH, Congenital Adrenal Hyperplasia, Congenital Disorders, Congenital Hypothyroidism, Congenital Hypothyroidism, Cystic Fibrosis, Dr. Guthrie, Dr. Robert Guthrie, Dried Blood Spot, Galactosemia, GALT, Genetic Disorders, Hemoglobinopathies, IEM, Inborn Errors of Metabolism, Infant Deaths in India, inherited disorders, maple syrup urine disease, metabolic disease, Metabolic Disorders, methylmalonic acidemia, Methylmalonic Acidemia (MMA), Neonatal Screening, Neonatal Screening for Sickle Cell, Newborn Screening, Newborn Screening India, Newborn Screening Indian babies, Newborn Screening month, Newborns, Phenylketonuria, PKU, rare disease, rare disease. rare disorders, rare disorders, Save Babies, Save Babies Through Screening Foundation, Sickle Cell Disease, Sickle Cell in India, Tandem Mass Spectrometry, thyroid hormone deficiency | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 2,080 Comments

Newborn Screening Symposium- September, 2012

FOGSI Perinatology Committee and the Association of Fellow Gynecolgists are hosting the 1st Newborn Screening Symposium in India- Newborn Screening- Let’s make a start!, at Kokilaben Dhirubhai Ambani Hospital, Mumbai on September 30, 2012.  NeoGen Labs is a strong supporter of Newborn Screening in India and … Continue reading

Posted in Congenital Disorders, Genetic Disorders, IEM, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, Infant Deaths in India, Infant Mortality rate, inherited disorders, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Deaths, Newborn Screening, Newborn Screening India, Newborn Screening Indian babies, Newborn Screening month, Newborn Screening symposium, rare disease, rare disease. rare disorders, rare disorders, Robert Guthrie | Tagged , , , , , , , , , , , , , , , , , , , , , | 1,540 Comments

Dr. Robert Guthrie – “Father” Of Mass Newborn Screening

When we discuss about people who have left the deepest mark in phenylketonuria disorder history, two names notably stand out – Dr. Ivar Asbjørn Følling, who discovered PKU, and Dr. Robert Guthrie, the man who made the first practical PKU screening test. While … Continue reading

Posted in Congenital Disorders, Dr. Guthrie, Dr. Robert Guthrie, Dried Blood Spot, Galactosemia, GALT, Genetic Disorders, genetic mutation, Guthrie, Guthrie test, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, inherited disorders, maple syrup urine disease, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborns, Phenylketonuria, PKU, rare disease, rare disease. rare disorders, Robert Guthrie, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 1,446 Comments

Preconception and prenatal genetic testing, Newborn Screening of rare diseases : How to empower individuals and support personal and voluntary decisions?

Rare diseases are chronic, severe, sometimes life threatening, always costly for the health care and social systems. Prenatal genetic testing and screening are currently proposed to future parents for a number of diseases, and newborn screening is performed after birth … Continue reading

Posted in BIOT, Biotin Deficiency, Biotinidase, Bubble Boy disease, CAH, CF, CH, Congenital Adrenal Hyperplasia, Congenital Adrenal Hyperplasim, Congenital Disorders, Congenital Hypothyroidism, Congenital Hypothyroidism, Cystic Fibrosis, Dried Blood Spot, Galactosemia, GALT, Genetic Disorders, genetic mutation, Hearing Newborn Screening, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, inherited disorders, metabolic disease, Metabolic Disorders, methylmalonic acidemia, Methylmalonic Acidemia (MMA), Neonatal Screening, Newborn, Newborn Screening, Newborns, rare disease, rare disease. rare disorders, rare disorders, SCID, Severe Combined ImmunoDeficiency, Tandem Mass Spectrometry, thyroid hormone deficiency | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 1,802 Comments

Low Awareness Costs Big to SCD Kids

Payal Gwalani, TNN Jun 24, 2012, 01.07AM IST NAGPUR: Till she turned eight, Devanand Ubale of Jalgaon did not even know his daughter suffered from sickle cell disease. The little girl kept battling various discomforts that come with the condition, and … Continue reading

Posted in abnormal hemoglobin, beta thalassemia, beta thalassemias, Blood disorders, bone marrow, Congenital Disorders, Cord Blood, Cord Blood Stem Cells, defective beta-globin gene, Dried Blood Spot, Genetic Disorders, hemoglobin, Hemoglobin electrophoresis, Hemoglobinopathies, Hemolytic anemia, high performance liquid chromatography, Infant, Infant Deaths in India, inherited disorders, Neonatal Screening, Neonatal Screening for Sickle Cell, Newborn, Newborn Deaths, Newborn Screening, Newborn Screening India, Newborn Screening Indian babies, Newborns, rare disease, rare disease. rare disorders, rare disorders, red blood cells, Sickle Cell Anemia, Sickle cell beta thalassemia, Sickle Cell Disease, Sickle Cell in India, sickled cells, Sickling diseases, Sickling hemoglobinopathies, Stem Cell Bank, Stem Cell Transplant, Stem Cell Transplants, thalassemia | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 2,356 Comments

Sickle Shaped Threat

Sickle cell anaemia is a rare genetic blood disorder which may cause body pains and if not treated at the right time could prove to be fatal Your child has been suffering from immense pain and weakness. If you have … Continue reading

Posted in abnormal hemoglobin, beta thalassemia, beta thalassemias, Blood disorders, bone marrow, Congenital Disorders, Cord Blood, Cord Blood Stem Cells, defective beta-globin gene, Dried Blood Spot, Genetic Disorders, genetic mutation, hemoglobin, Hemoglobinopathies, Infant, Infant Deaths in India, Infant Mortality rate, inherited disorders, Neonatal Screening, Neonatal Screening for Sickle Cell, Newborn, Newborn Deaths, Newborn Screening, Newborn Screening India, Newborn Screening Indian babies, Newborns, Penicillin prophylaxis, rare disease, rare disease. rare disorders, rare disorders, red blood cells, sepsis, Sickle Cell Anemia, Sickle cell beta thalassemia, Sickle Cell Disease, Sickle Cell in India, sickled cells, Sickling diseases, Sickling hemoglobinopathies, Stem Cell Bank, Stem Cell Transplant, Stem Cell Transplants, thalassemia | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 644 Comments