Tag Archives: CAH

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

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

Newborn Screening- Information on some of the common Disorders

1. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency – the enzyme Glucose-6-Phosphate dehydrogenase is an important enzyme in the metabolic pathway of red blood cells. Without this enzyme, red blood cells are prone to lysis/damage and will eventually lead to anemia for the … Continue reading

Posted in BIOT, Biotinidase, CAH, CF, CH, Congenital Adrenal Hyperplasia, Congenital Adrenal Hyperplasim, Congenital Disorders, Congenital Hypothyroidism, Cystic Fibrosis, Dried Blood Spot, Galactosemia, GALT, Genetic Disorders, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant Deaths in India, Infant Mortality rate, metabolic disease, Metabolic Disorders, Newborn, Newborn Deaths, Newborn Screening, Newborns, rare disease, rare disease. rare disorders, rare disorders, Tandem Mass Spectrometry | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 663 Comments

Qatar soon to have Newborn Screening programme

Tuesday, 6 March, 2012 By Huda NV DOHA: Qatar is set to establish a newborn screening project to identify children born with severe immune deficiency. The project in collaboration with the Heidelberg University Hospital will begin by the end of … Continue reading

Posted in CAH, CH, Congenital Adrenal Hyperplasim, Congenital Disorders, Congenital Hypothyroidism, Dried Blood Spot, Genetic Disorders, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborn Screening Qatar, Newborns, rare disease, rare disease. rare disorders, rare disorders | Tagged , , , , , , , , , , , , , , , , , , , , , | 1,113 Comments

4,600 infants cured thanks to newborn screening programs

5 January 2012 / ÇAĞLAR AVCI, İSTANBUL Roughly 4,600 infants have been cured of a variety of ailments after being diagnosed early as part of a newborn screening program carried out by the Health Ministry’s General Directorate of Mother-Child Health … Continue reading

Posted in CAH, CH, Congenital Adrenal Hyperplasim, Congenital Disorders, Congenital Hypothyroidism, Dried Blood Spot, Genetic Disorders, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Deaths, Newborn Screening, Newborns, rare disease, rare disease. rare disorders, rare disorders, thyroid hormone deficiency | Tagged , , , , , , , , , , , , , , , , , , , , , , | 1,203 Comments

Nationwide program for neonatal screening planned

RIYADH: The Ministry of Health is to launch a national program for the early detection of disabilities in newborns, a senior official from the ministry announced in Riyadh on Monday. “The decision to implement a national program was adopted at … Continue reading

Posted in CAH, CH, Congenital Adrenal Hyperplasim, Congenital Disorders, Congenital Hypothyroidism, Dried Blood Spot, Genetic Disorders, genetic mutation, Hearing Newborn Screening, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, Infant Deaths in India, Infant Mortality rate, metabolic disease, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Deaths, Newborn Hearing, Newborn Screening, Newborns, rare disease, rare disease. rare disorders, rare disorders, thyroid hormone deficiency | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , | 687 Comments

How to ensure sickle cell disease does not separate lovers

Sickle cell disease needs not be a barrier in marriage. Experts say when individuals with sickle cell trait marry, through neonatal screening it is possible to detect and start early treatment of children with sickle cell disease, thus improving their … Continue reading

Posted in Blood disorders, CAH, CH, Congenital Adrenal Hyperplasim, Congenital Disorders, Congenital Hypothyroidism, Dried Blood Spot, Genetic Disorders, genetic mutation, Hemoglobinopathies, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, Infant Mortality rate, Malaria and Scickle cell, metabolic disease, Metabolic Disorders, Neonatal Screening, Neonatal Screening for Sickle Cell, Newborn, Newborns, rare disease, rare disease. rare disorders, rare disorders, Sickle Cell Anemia, Sickle Cell Disease, Sickle cell in Africa, Sickle Cell in India, thalassemia, thyroid hormone deficiency | Tagged , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , | 1,657 Comments

New guideline on newborn screening for cystic fibrosis issued

A new guideline published by the Clinical and Laboratory Standards Institute (CLSI) seeks to clarify the best practices for screening newborns for cystic fibrosis. Newborn Screening for Cystic Fibrosis—Approved Guideline (I/LA35-A) details the use of screening tests to detect risk … Continue reading

Posted in CAH, CH, Congenital Adrenal Hyperplasim, Congenital Hypothyroidism, Dried Blood Spot, Genetic Disorders, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, Infant Mortality rate, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborns | Tagged , , , , , , , , , , , , , , , | 904 Comments

Newborn Screening Tests Save Lives, Facilitate Treatment

Pediatrician Talks About Screenings Done Before Infants Leave the Hospital A lot happens before a newborn baby leaves the hospital, but perhaps most important is the tiny “heel stick” to draw a tiny amount of blood. This small sample is … Continue reading

Posted in CAH, Congenital Hypothyroidism, Dried Blood Spot, Genetic Disorders, IEM, IMD, Inborn Errors of Metabolism, inborn metabolic syndrome, Infant, Infant Mortality rate, Metabolic Disorders, Neonatal Screening, Newborn, Newborn Screening, Newborns | Tagged , , , , , , , , , , , , , , | 1,260 Comments

Now, children born with metabolic syndrome

NEW DELHI: Till now, it was common knowledge that faulty lifestyle made Indians more prone to suffer from metabolic syndrome – a major risk factor for heart disease, stroke, diabetes and several genetic anomalies. But a landmark study by the … Continue reading

Posted in Dried Blood Spot, IEM, Metabolic Disorders, Newborn Screening | Tagged , , , , , , , , , , , , , , , | 1,703 Comments