1-10-19
Neonatal Universal screening:-
The conditions for which neonatal screening has been proposed in Indian scenario include A) hearing loss) congenital hypothyroidism) congenital adrenal hyperplasia (CAH) and D) glucose-6-phosphate dehydrogenase (G6PD) deficiency. 1) Hearing loss has a high incidence, and if not corrected before 6 months of age, may lead to permanent hearing and speech impairment. 2) Congenital hypothyroidism also has a high incidence and is the most important preventable cause of intellectual disability.3) Congenital adrenal hyperplasia. If undetected at birth, can result in mortality, morbidity or genital abnormalities. 4) G6PD deficiency has a relatively high incidence in Northern parts of the country, and cost of testing is affordable. Considering the prevalence of these conditions and huge financial implications for universal screening for a developing country like India, a practical approach will be to categorise the conditions as follows:
So to make a comprise what is to be dome and what can be done :-in India (Finacial constraint ) a comptomised list of tests are 1) hearing tests, 2) Hypothyroidism 3) 6-PD deficiency & 4) CAH are a must. Dear members do you implement these at your Hospital / N Home like "Baby Friendly Hospital" ( 10 points) sign Board-Display Board at OPD /Indoor:- Have members own a N home have taken the initiative U displayed some short writings like public notice of universal screening in the walls of N Home??( courtesy:Indian Pediatr 2015;52: 373-374).
What do we exactly mean by metabolic screen & Genetic screen where no visible abnormalities are obvious in the neonate? Is it worthy?? I like to draw attention of the learned members that in fair no of cases of genetic/ metabolic congenital abnormality there is no visible abnormality (see yesterday p[ost on Birth defects in F Book pages about 23 posts regarding teratogens –My blog). Newborn screening for common metabolic and genetic disorders should be an integral part of neonatal care as early detection and treatment can help prevent intellectual and physical defects and life threatening illnesses.
The conditions for which neonatal screening has been proposed in Indian scenario include A) hearing loss) congenital hypothyroidism) congenital adrenal hyperplasia (CAH) and D) glucose-6-phosphate dehydrogenase (G6PD) deficiency. 1) Hearing loss has a high incidence, and if not corrected before 6 months of age, may lead to permanent hearing and speech impairment. 2) Congenital hypothyroidism also has a high incidence and is the most important preventable cause of intellectual disability.3) Congenital adrenal hyperplasia. If undetected at birth, can result in mortality, morbidity or genital abnormalities. 4) G6PD deficiency has a relatively high incidence in Northern parts of the country, and cost of testing is affordable. Considering the prevalence of these conditions and huge financial implications for universal screening for a developing country like India, a practical approach will be to categorise the conditions as follows:
So to make a comprise what is to be dome and what can be done :-in India (Finacial constraint ) a comptomised list of tests are 1) hearing tests, 2) Hypothyroidism 3) 6-PD deficiency & 4) CAH are a must. Dear members do you implement these at your Hospital / N Home like "Baby Friendly Hospital" ( 10 points) sign Board-Display Board at OPD /Indoor:- Have members own a N home have taken the initiative U displayed some short writings like public notice of universal screening in the walls of N Home??( courtesy:Indian Pediatr 2015;52: 373-374).
What do we exactly mean by metabolic screen & Genetic screen where no visible abnormalities are obvious in the neonate? Is it worthy?? I like to draw attention of the learned members that in fair no of cases of genetic/ metabolic congenital abnormality there is no visible abnormality (see yesterday p[ost on Birth defects in F Book pages about 23 posts regarding teratogens –My blog). Newborn screening for common metabolic and genetic disorders should be an integral part of neonatal care as early detection and treatment can help prevent intellectual and physical defects and life threatening illnesses.
The list of conditions for which screening is
carried out differs from country to country, based on the prevalence of the
condition and available resources. Universal screening for about 40 to 50 metabolic disorders is mandatory
in US, Europe and many other countries across the world.
Is screening cost
effective??
Though universal screening is a cost-intensive exercise, the benefits far exceed the cost as it helps in reducing the
mortality and morbidity of these diseases.
Category A (all newborns): Screening for congenital hypothyroidism and hearing should be a must in Indian scenario. Screening for A) CAH and B) G-6PD deficiency may be added in a phased manner. G6PD screening should be done C) . Screening for Sickle cell disease and other D) hemoglobinopathies should be undertaken in pockets of high incidence.
Category B: Only for high risk cases not for general poulation:- ( Screeninmg for High risk cases –not for general population ) : Screening for the following disorders should be conducted in the high risk population (consanguinity, previous children with unexplained intellectual disability, seizure disorder, previous unexplained sibling deaths, critically ill neonates, newborns/children with symptoms/ signs/investigations suggestive of inborn errors of metabolism).
These
conditions include E) phenylketonuria, F) homocystinuria,G) alkaptonuria, H)
galactosemia, I) sickle cell anemia and other hemoglobinopathies, J) cystic
fibrosis,K) biotinidase deficiency, L) maple syrup urine disease,M)
medium-chain acyl-CoA dehydrogenase deficiency, N) tyrosinemia and fatty acid
oxidation defects.
What is “expanded screening “-not unioversal screening: Category C: Screening (in resource-rich setting/expanded screening) for 30-40 inherited metabolic disorders may be offered to ‘well-to-do’ families, especially in urban settings where facilities for sending sample to laboratory are available.
. The WHO has recommended that genetic services should be introduced in countries with an infant mortality rate (IMR) less than 50. India with an IMR of 40 should introduce newborn screening and genetic services. The Indian Academy of Pediatrics strongly advocates inclusion of newborn screening in our public health policy, and will offer its technical and logistic inputs to the Government of India for initiating this program.
What is “expanded screening “-not unioversal screening: Category C: Screening (in resource-rich setting/expanded screening) for 30-40 inherited metabolic disorders may be offered to ‘well-to-do’ families, especially in urban settings where facilities for sending sample to laboratory are available.
. The WHO has recommended that genetic services should be introduced in countries with an infant mortality rate (IMR) less than 50. India with an IMR of 40 should introduce newborn screening and genetic services. The Indian Academy of Pediatrics strongly advocates inclusion of newborn screening in our public health policy, and will offer its technical and logistic inputs to the Government of India for initiating this program.
What
is obligatory screening?? The total list of
screening may be subclassified into Universal / Selective::: Though universal
screening is warranted and desirable but in resource poor countries where per capita income is less ( poor families) can’t afford
for all screening tests specially those tests which are not supported by
Govt free/ subsidy. If no subsidy then
we doctors have to balance the benefit of screening and possibility
of having a diseases in that State/ Community but not forgetting her pervious
Obstedt history , infn, consanguinity etc. But the fact remains that some
screening is obligatory for all neonates but number of tests may vary -Rich
/Poor -Region wise --:" Population specific screening :-depending on the
prevalence of some inherited diseases. The question of affordability &
availability of such screening tests has to be considered even in the days of
paper strip tests which my be transported by post
from remote villages like Double marker or Quadruple serum tests.
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