Parental Opinions about the Expansion of the Neonatal Screening Programme

2008 ◽  
Vol 11 (1) ◽  
pp. 11-17 ◽  
Author(s):  
Symone Detmar ◽  
Nynke Dijkstra ◽  
Niels Nijsingh ◽  
Marlies Rijnders ◽  
Marcel Verweij ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Screening Programme

scholarly journals Neonatal Screening for Congenital Hypothyroidism with Focus on Developing an Indian Screening Programme

2016 ◽  
Vol 12 (2) ◽  
pp. 99
Author(s):  
Jubbin Jagan Jacob ◽  
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Resource Constraints ◽  
Screening Programme ◽  
Standard Of Care ◽  
Neurological Impairment ◽  
Current Understanding ◽  
Hormone Deficiency ◽  
Levothyroxine Replacement ◽  
Long Term Follow Up

Neonatal screening for congenital hypothyroidism, along with eradication of iodine deficiency in large parts of the world, has made it possible to prevent the development of permanent neurological impairment due to thyroid hormone deficiency in the developing brain. The first successful screening programme was demonstrated in Canada in 1973 and since then it has been standard of care in most developed societies. In India there is no national programme for neonatal screening, and screening is only done in selected larger hospitals on newborns whose parents fund it. This review summarises the current understanding of the various strategies for newborn screening that could potentially be employed in India with resource constraints. Once a case is detected, the further evaluation and determination of etiology is summarised. Treatment and long term follow-up with levothyroxine replacement is also described in detail as per current understanding.

Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis

2007 ◽  
Vol 91 (1) ◽  
pp. 82-87 ◽  
Author(s):  
R Padoan ◽  
S Genoni ◽  
E Moretti ◽  
M Seia ◽  
A Giunta ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Features ◽  
Neonatal Screening ◽  
Screening Programme ◽  
False Negative

Forty eight cases of primary congenital hypothyroidism diagnosed with the neonatal screening programme

1983 ◽  
Vol 104 (3_Supplc) ◽  
pp. S21-S22 ◽  
Author(s):  
S. Pantelakis ◽  
I. Lambadaridis ◽  
Ch. Mengreli
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Screening Programme

scholarly journals Prevalence of sickle cell disease among Grenadian newborns

2017 ◽  
Vol 25 (1) ◽  
pp. 49-50 ◽  
Author(s):  
Magdalene Antoine ◽  
Ketty Lee ◽  
Tyhiesia Donald ◽  
Yonni Belfon ◽  
Ali Drigo ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Neonatal Screening ◽  
Screening Programme ◽  
Population Based ◽  
University Hospital ◽  
Cell Disease ◽  
Diagnostic Laboratory ◽  
Birth Prevalence ◽  
The University

Objective To establish the birth prevalence of sickle cell disease in Grenada, with a view to assess the requirement for a population-based neonatal screening programme. Methods A two-year pilot neonatal screening programme, involving the Ministry of Health of Grenada, the Sickle Cell Association of Grenada, and the diagnostic laboratory of hemoglobinopathies of the University Hospital of Guadeloupe, was implemented in 2014–2015 under the auspices of the Caribbean Network of Researchers on Sickle Cell Disease and Thalassemia. Results Analysis of 1914 samples processed identified the following abnormal phenotypes: 10 FS, 2 FSC, 183 FAS, 63 FAC. These data indicate βs and βc allele frequencies of 0.054 and 0.018, respectively. Conclusion Neonatal screening conducted in the framework of this Caribbean cooperation can allow rapid detection and earlier management of affected children.

scholarly journals Neonatal screening for sickle cell disorders in Ouagadougou, Burkina Faso: a pilot study

2005 ◽  
Vol 12 (3) ◽  
pp. 112-114 ◽  
Author(s):  
Eléonore Kafando ◽  
Mamadou Sawadogo ◽  
Frédéric Cotton ◽  
Fanchon Vertongen ◽  
Béatrice Gulbis
Keyword(s):  
Sickle Cell ◽  
Neonatal Screening ◽  
Screening Programme ◽  
Public Health Problem ◽  
Major Public Health Problem ◽  
Blood Samples ◽  
Maternity Hospitals ◽  
Sickle Cell Disorders ◽  
Hb S ◽  
Compound Heterozygotes

Objectives: To determine the incidence of sickle cell disorders (SCDs) and the feasibility of a neonatal screening programme in Ouagadougou. Methods: During 2000, 2003 and 2004, 2341 cord blood samples obtained in five maternity hospitals in Ouagadougou were screened for SCDs using an isoelectric focusing technique. The feasibility of a neonatal screening programme was evaluated. Results: The incidence of SCD was 1:57; 14 neonates were homozygous for haemoglobin (Hb)S and 27 were compound heterozygotes for HbSC. Thirty-two neonates were homozygous for HbC. The incidence of the HbC trait was 1:6; incidence of the HbS trait was 1:14. A centralized laboratory for neonatal screening of SCDs was established. Conclusions: SCDs should be considered a major public health problem in Ouagadougou. A neonatal screening programme should be implemented, but to be effective it requires strategies adapted to the local situation.

EVALUATION OF A STATE‐WIDE NEONATAL SCREENING PROGRAMME

1979 ◽  
Vol 1 (9) ◽  
pp. 365-367 ◽  
Author(s):  
Evelyn F. Robertson ◽  
G. N. Hill ◽  
A. C. Pollard
Keyword(s):  
Neonatal Screening ◽  
Screening Programme
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