Maternal Awareness and Perception in Successful Implementation of Neonatal Screening Program

Objective Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program. Subjects and methods Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child’s age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations. Results The NSP-SES/SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone. Conclusions The incidence of CAH was 1 case to 14,967 live newborns. Collection of the first sample occurred outside the recommended time, resulting in delays in treatment onset.

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Clinical Effectiveness and Cost-Effectiveness of the Use of the Thyroxine/Thyroxine-Binding Globulin Ratio to Detect Congenital Hypothyroidism of Thyroidal and Central Origin in a Neonatal Screening Program

PEDIATRICS ◽

10.1542/peds.2004-2162 ◽

2005 ◽

Vol 116 (1) ◽

pp. 168-173 ◽

Cited By ~ 53

Author(s):

C. I. Lanting

Keyword(s):

Cost Effectiveness ◽

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Screening Program ◽

Clinical Effectiveness ◽

Thyroxine Binding Globulin ◽

Central Origin ◽

Neonatal Screening Program

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The Neonatal Screening Program in Brazil, Focus on Sickle Cell Disease (SCD)

International Journal of Neonatal Screening ◽

10.3390/ijns5010011 ◽

2019 ◽

Vol 5 (1) ◽

pp. 11 ◽

Cited By ~ 1

Author(s):

Ana Silva-Pinto ◽

Maria Alencar de Queiroz ◽

Paula Antoniazzo Zamaro ◽

Miranete Arruda ◽

Helena Pimentel dos Santos

Keyword(s):

Sickle Cell Disease ◽

Sickle Cell ◽

Health Care Professionals ◽

Neonatal Screening ◽

Screening Program ◽

Cell Disease ◽

Ministry Of Health ◽

Basic Care ◽

Main Challenge ◽

Neonatal Screening Program

Since 2001, the Brazilian Ministry of Health has been coordinating a National Neonatal Screening Program (NNSP) that now covers all the 26 states and the Federal District of the Brazilian Republic and targets six diseases including sickle cell disease (SCD) and other hemoglobinopathies. In 2005, the program coverage reached 80% of the total live births. Since then, it has oscillated between 80% and 84% globally with disparities from one state to another (>95% in São Paulo State). The Ministry of Health has also published several Guidelines for clinical follow-up and treatment for the diseases comprised by the neonatal screening program. The main challenge was, and still is, to organize the public health network (SUS), from diagnosis and basic care to reference centers in order to provide comprehensive care for patients diagnosed by neonatal screening, especially for SCD patients. Considerable gains have already been achieved, including the implementation of a network within SUS and the addition of scientific and technological progress to treatment protocols. The goals for the care of SCD patients are the intensification of information provided to health care professionals and patients, measures to prevent complications, and care and health promotion, considering these patients in a global and integrated way, to reduce mortality and enhance their quality of life.

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Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program

International Journal of Gynecology & Obstetrics ◽

10.1016/0020-7292(90)90674-a ◽

1990 ◽

Vol 33 (1) ◽

pp. 83-84

Author(s):

D.L. Waters ◽

S.F.A. Dorney ◽

K.J. Gaskin ◽

M.A. Gruca ◽

M O'Halloran ◽

...

Keyword(s):

Cystic Fibrosis ◽

Neonatal Screening ◽

Screening Program ◽

Pancreatic Function ◽

Neonatal Screening Program

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Neonatal Screening Program for Congenital Adrenal Hyperplasia: Adjustments to the Recall Protocol

Hormone Research in Paediatrics ◽

10.1159/000050012 ◽

2001 ◽

Vol 55 (6) ◽

pp. 271-277 ◽

Cited By ~ 19

Author(s):

Laura Gruñeiro-Papendieck ◽

Laura Prieto ◽

Ana Chiesa ◽

Sonia Bengolea ◽

Graciela Bossi ◽

...

Keyword(s):

Congenital Adrenal Hyperplasia ◽

Neonatal Screening ◽

Screening Program ◽

Adrenal Hyperplasia ◽

Recall Protocol ◽

Neonatal Screening Program

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Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study

Sao Paulo Medical Journal ◽

10.1590/1516-3180.2015.00042302 ◽

2015 ◽

Vol 133 (5) ◽

pp. 439-444 ◽

Cited By ~ 2

Author(s):

Aline Menezes Carlos ◽

Renata Andréia Volpe Souza ◽

Bruna Maria Bereta de Souza ◽

Gilberto de Araujo Pereira ◽

Sebastião Tostes Júnior ◽

...

Keyword(s):

Neonatal Screening ◽

Screening Program ◽

Cross Sectional Study ◽

Alkaline Ph ◽

Sectional Study ◽

Cross Sectional ◽

Hb E ◽

Hb S ◽

Neonatal Screening Program ◽

Hb C

ABSTRACT CONTEXT AND OBJECTIVE: Hemoglobinopathies are among the commonest and most widespread genetic disorders worldwide. Their prevalence varies according to ethnic composition and/or geographical region. The aim of this study was to investigate the presence of hemoglobinopathies and their association with ethnicity among 1,004 newborns, to confirm the guideline of the Brazilian National Neonatal Screening Program. DESIGN AND SETTING: Cross-sectional study conducted in a public referral hospital in the Triângulo Mineiro region, Minas Gerais, Brazil. METHODS: Qualitative assessment of hemoglobin was performed through electrophoresis on cellulose acetate: at alkaline pH to identify the hemoglobin (Hb) profile and at acid pH to differentiate Hb S from Hb D and Hb C from Hb E and others that migrate to similar positions at alkaline pH. Neutral pH was used to detect Hb Bart's identified in alpha thalassemia (α-thal). The elution method after electrophoresis was used to quantitatively assess hemoglobins. RESULTS: There was predominance of α-thal, with 105 cases (10.46%), followed by Hb S with 61 cases (6.08%, comprising 46 Hb AS, 2 Hb SS and 13 Hb S/α-thal), 9 cases (0.9%) of Hb AC and 6 cases (0.6%) suggestive of beta thalassemia (β-thal). The frequency of hemoglobinopathies was significantly higher among Afro-descendants. CONCLUSIONS: These findings corroborated of the National Neonatal Screening Program for diagnosing sickle cell disease and Hb C, Hb D, Hb E and β-thal hemoglobinopathies.

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Congenital Hypothyroidism in the Southern Bangladesh

TAJ Journal of Teachers Association ◽

10.3329/taj.v21i1.3212 ◽

1970 ◽

Vol 21 (1) ◽

pp. 18-22 ◽

Cited By ~ 1

Author(s):

C Habibur Rasul ◽

S Nahar Lucky ◽

S Rahman Miah ◽

F Moslem

Keyword(s):

Birth Weight ◽

Congenital Hypothyroidism ◽

Neonatal Screening ◽

Screening Program ◽

National Level ◽

Retarded Child ◽

Thyroid Function Test ◽

Cord Blood Sample ◽

College Hospital ◽

Neonatal Screening Program

Congenital hypothyroidism is the commonest preventable cause of mental retardation. It is more prevalent in endemic goiter regions like Bangladesh. But magnitude of the problem has not been studied at national level. This study was done to detect the frequency of congenital hypothyroidism in southem part of Bangladesh & to develop neonatal screening program. All the living newborns delivered between Oct 01 to June 05 Khulna Medical College Hospital were included in the study, After taking the relevant information from mother, cord blood sample were collected from the newborn within 120 hours of birth and kept in freezer. At the end of collection of each two months, the lot was sent to the laboratory of Institute of Nuclear Medicine, Dhaka for radioimmunoassay of TSH. Potential cases with TSH above 10 MIU were recalled for thyroid function test for confirmation of diagnosis. Fifteen hundred samples were collected in total during 45 months of study. One forty seven unsatisfactory samples were discarded; thereby 1353 samples were eventually assayed for TSH. Among the study population 88.2% hailed from Khulna district and the rest of the cases came from neighboring districts. Male to female baby ratio was 1.2:1. Regarding the birth weight 33.4% babies were low birth weight. TSH above 10 was found in 35 babies among whom one baby was hypothyroid and the other member of the twin was also hypothyroid although the TSH level was below 10. None of newborn had TSH level above 20. Thus frequency of congenital hypothyroidism was 1.5 per thousand living newborn. Congenital hypothyroidism in southern part of the country is quite high in relation to global incidence. Although this is not the national picture but the high figure is alarming. Therefore neonatal screening program should be implemented as soon as possible to reduce the number of mentally retarded child. doi: 10.3329/taj.v21i1.3212 TAJ 2008; 21(1): 18-22

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