Current and future perspective of newborn screening: an Indian scenario

2016 ◽  
Vol 29 (1) ◽  
Author(s):  
Gurjit Kaur ◽  
Kiran Thakur ◽  
Sandeep Kataria ◽  
Teg Rabab Singh ◽  
Bir Singh Chavan ◽  
...  
Keyword(s):  
Health Care ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Health Care System ◽  
Congenital Hypothyroidism ◽  
G6pd Deficiency ◽  
Metabolic Disorders ◽  
Adrenal Hyperplasia ◽  
Screening Programs ◽  
Care System

AbstractNewborn screening comprises a paramount public health program seeking timely detection, diagnosis, and intervention for genetic disorders that may otherwise produce serious clinical consequences. Today newborn screening is part of the health care system of developed countries, whereas in India, newborn screening is still in the toddler stage.We searched PubMed with the keywords newborn screening for metabolic disorders, newborn screening in India, and congenital disorder in neonates, and selected publications that seem appropriate.In India, in spite of the high birth rate and high frequency of metabolic disorders, newborn screening programs are not part of the health care system. At Union Territory, Chandigarh in 2007, newborn screening was initiated and is currently ongoing for three disorders, that is, congenital hypothyroidism, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Prevalence of these disorders is found to be 1:1400 for congenital hypothyroidism, 1:6334 for congenital adrenal hyperplasia, and 1:80 for G6PD deficiency.Mandatory newborn screening for congenital hypothyroidism should be implemented in India, and other disorders can be added in the screening panel on the basis of region-wise prevalence. The objective of this review is to provide insight toward present scenario of newborn screening in India along with recommendations to combat the hurdles in the pathway of mandatory newborn screening.

scholarly journals Newborn Screening for Congenital Hypothyroidism, Congenital Adrenal Hyperplasia, and Glucose-6-Phosphate Dehydrogenase Deficiency for Improving Health Care in India

2019 ◽  
Vol 09 (01) ◽  
pp. 040-044 ◽  
Author(s):  
Jyotsna Verma ◽  
Papai Roy ◽  
Divya C. Thomas ◽  
Geetu Jhingan ◽  
Azad Singh ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
G6pd Deficiency ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
Adverse Outcomes ◽  
Adrenal Hyperplasia ◽  
Birth Prevalence ◽  
Glucose 6 Phosphate Dehydrogenase

AbstractNewborn screening (NBS) aims toward early detection of treatable congenital disorders. From January 2008 through December 2017, 13,376 newborns were screened for congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and glucose-6-phosphate dehydrogenase (G6PD) deficiency at Sir Ganga Ram Hospital, India, by measuring G6PD activity, thyroid-stimulating hormone, and 17-hydroxyprogesterone on dried blood specimens. The birth prevalence of 1:2,000 for CH, 1:2,500 for CAH, and 1:125 for G6PD deficiency indicates the latter as the most prevalent. Performance evaluation of testing reveals a robust screening program with 100% sensitivity and >99% specificity. Hence, we recommend NBS for early diagnosis and treatment to prevent adverse outcomes.

scholarly journals Newborn Screening for Five Conditions in a Tertiary Care Government Hospital in Bengaluru, South India—Three Years Experience

2019 ◽  
Vol 66 (3) ◽  
pp. 284-289 ◽  
Author(s):  
Anitha Kommalur ◽  
Sahana Devadas ◽  
Mallesh Kariyappa ◽  
Sarala Sabapathy ◽  
Asha Benakappa ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
G6pd Deficiency ◽  
Tertiary Care ◽  
Recall Rate ◽  
Large Sample Size ◽  
Adrenal Hyperplasia ◽  
Birth Cohorts ◽  
Government Hospitals

Abstract Purpose Newborn screening is the need of the hour in a developing country like India as there is paucity of data from studies conducted in government hospitals with large sample size. The purpose of the study is to estimate incidence rate and recall rates for five conditions screened in the neonatal period namely congenital hypothyroidism, congenital adrenal hyperplasia, glucose-6-phosphate dehydrogenase (G6PD) deficiency, galactosemia and phenyl ketonuria (PKU). Methods The study was conducted at VaniVilas Hospital attached to Bangalore Medical College and Research Institute. A retrospective analysis of the results of newborn screening programme during a 3-year period between January 2016 and December 2018 was done. There were 47 623 livebirths during this period out of which 41 027 babies were screened (coverage—86% of total livebirths). Heelprick samples after 48 h of life and prior to discharge were analysed by quantitative assessment. Neonates having positive screening results were recalled by telephonic call for repeat screening and confirmatory tests. Results G6PD deficiency was the most common disorder with an incidence of 1:414, followed by congenital hypothyroidism and Congenital Adrenal Hyperplasia with an incidence of 1:2735 and 1:4102, respectively. Galactosemia and PKU were found to be rare in our population. The overall average recall rate was 0.6% which meant that 24 normal newborns were recalled for testing for one confirmed case. The recall rate was relatively higher for galactosemia and G6PD deficiency which was at 0.25% each compared to the other conditions where it was below 0.05%. Conclusion The results of the study emphasize the need for universal newborn screening especially in all government hospitals with large birth cohorts.

Should Screening Programs Be Perfect?

PEDIATRICS ◽  
1983 ◽  
Vol 71 (2) ◽  
pp. 301-301
Author(s):  
PHILIP R. WYATT
Keyword(s):  
United States ◽  
Health Care ◽  
Early Detection ◽  
New England ◽  
Health Care System ◽  
The United States ◽  
Neonatal Hypothyroidism ◽  
Screening Programs ◽  
Care System

To the Editor.— The report of the New England Regional Screening Program1 on neonatal hypothyroidism is a stunning illustration of the vulnerability of screening programs. It is unfortunate that this experience will probably be used as an argument to minimize the input of screening programs in the health care system in the United States. The report illustrates that, in addition to the 2% of the screened population that eluded the program, 14 infants with hypothyroidism escaped the full benefits of early detection and treatment.

scholarly journals Cultural Leverage

2007 ◽  
Vol 64 (5_suppl) ◽  
pp. 243S-282S ◽  
Author(s):  
Thomas L. Fisher ◽  
Deborah L. Burnet ◽  
Elbert S. Huang ◽  
Marshall H. Chin ◽  
Kathleen A. Cagney
Keyword(s):  
Health Care ◽  
Health Care System ◽  
Health Workers ◽  
Community Members ◽  
Individual Level ◽  
Screening Programs ◽  
Patient Navigators ◽  
Barriers To Access ◽  
Racial Disparities In Health ◽  
Care System

The authors reviewed interventions using cultural leverage to narrow racial disparities in health care. Thirty-eight interventions of three types were identified: interventions that modified the health behaviors of individual patients of color, that increased the access of communities of color to the existing health care system, and that modified the health care system to better serve patients of color and their communities. Individual-level interventions typically tapped community members' expertise to shape programs. Access interventions largely involved screening programs, incorporating patient navigators and lay educators. Health care interventions focused on the roles of nurses, counselors, and community health workers to deliver culturally tailored health information. These interventions increased patients' knowledge for self-care, decreased barriers to access, and improved providers' cultural competence. The delivery of processes of care or intermediate health outcomes was significantly improved in 23 interventions. Interventions using cultural leverage show tremendous promise in reducing health disparities, but more research is needed to understand their health effects in combination with other interventions.

scholarly journals Utilization, satisfaction and barriers of medical care among adults of Turkish descent in Germany

2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
C Dornquast ◽  
S Solak ◽  
M Durak ◽  
L Krist ◽  
K H Jöckel ◽  
...  
Keyword(s):  
Health Care ◽  
Cohort Study ◽  
Medical Care ◽  
Health Care System ◽  
Self Report ◽  
German Health Care System ◽  
Screening Programs ◽  
Preliminary Results ◽  
German Health ◽  
Care System

Abstract Background The growing proportion of people with a migration background poses major challenges for public health and the health care system in Germany. People of Turkish descent represent the largest group within this specific population. The aim of this study was therefore to examine the use and satisfaction of medical services and barriers to health care access among adults of Turkish descent in Germany. Methods A cohort study of a group of nearly 1200 Turkish adults in Berlin and Essen constitutes the basis of this analysis. The baseline examination was carried out as part of the pretests of the German National Cohort study. This follow-up survey assessed utilization, satisfaction and subjectively perceived barriers in the German health care system, as well as socio-demography, lifestyle, health status and quality of life via self-report (paper based or online) in Turkish or German. Descriptive preliminary results are presented in this abstract. Results The first 287 participants interviewed until December 31, 2018 were on average 49 years old, with 64% being female. 90% of the participants had a family doctor and in the last 12 months, 17% were in a hospital for in-patient treatment and 23% in an emergency room. The use of screening programs varied from 15% (skin cancer screening) to 87% (mammography). The most frequently visited physician was the general practitioner (86%). The participants were satisfied regarding many aspects, with the best values for the communication with their doctor. However, 22% reported problems or barriers in the context of medical care in the last five years. Conclusions These preliminary results provide a first insight into the utilization behaviour among adults of Turkish descent, their satisfaction as well as barriers with the German health care system. However, possible consequences of our study should only be discussed after all analyses have been completed. Key messages This is one of the few cohort studies in a migrant population in Germany. Knowledge of barriers could provide indications of problems of adults of Turkish descent in the German health care system.

scholarly journals Preliminary Study of Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia in Indonesia

2020 ◽  
Vol 8 (2) ◽  
Author(s):  
Aman B Pulungan ◽  
Frida Soesanti ◽  
Agustini Utari ◽  
Niken Pritayati ◽  
Madarina Julia ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Adrenal Hyperplasia ◽  
Preliminary Study

scholarly journals Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia

Medicina ◽  
2021 ◽  
Vol 57 (10) ◽  
pp. 1035
Author(s):  
Rūta Navardauskaitė ◽  
Kornelija Banevičiūtė ◽  
Jurgita Songailienė ◽  
Kristina Grigalionienė ◽  
Darius Čereškevičius ◽  
...  
Keyword(s):  
Positive Predictive Value ◽  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Sensitivity And Specificity ◽  
Serum Potassium ◽  
Predictive Value ◽  
Clinical Presentation ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Screening Programs

Background and Objectives: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programs are not always sensitive and effective enough to detect the disease. We aimed to evaluate impact of the national NBS on the clinical presentation of patients with CAH in Lithuania. Materials and Methods: A retrospective study was performed on data of 88 patients with CAH from 1989 to 2020. Patients with confirmed CAH were divided into two groups: (1) 75 patients diagnosed before NBS: 52 cases with salt-wasting (SW), 21 with simple virilising (SV) and two with non-classical (NC) form; (2) 13 patients diagnosed with NBS: 12 cases with SW and 1 case with SV form. For the evaluation of NBS effectiveness, data of only male infants with salt-wasting CAH were analysed (n = 36, 25 unscreened and nine screened). Data on gestational age, birth weight, weight, symptoms, and laboratory tests (serum potassium and sodium levels) on the day of diagnosis, were analysed. Results: A total of 158,486 neonates were screened for CAH from 2015 to 2020 in Lithuania and CAH was confirmed in 13 patients (12 SW, one–SV form), no false negative cases were found. The sensitivity and specificity of NBS program for classical CAH forms were 100%; however, positive predictive value was only 4%. There were no significant differences between unscreened and screened male infant groups in terms of age at diagnosis, serum potassium, and serum sodium levels. Significant differences were found in weight at diagnosis between the groups (−1.67 ± 1.12 SDS versus 0.046 ± 1.01 SDS of unscreened and screened patients respectively, p = 0.001). Conclusions: The sensitivity and specificity of NBS for CAH program were 100%, but positive predictive value—only 4%. Weight loss was significantly lower and the weight SDS at diagnosis was significantly higher in the group of screened patients.

scholarly journals Congenital Adrenal Hyperplasia: Time to Replace 17OHP with 21-Deoxycortisol

2019 ◽  
Vol 91 (6) ◽  
pp. 416-420 ◽  
Author(s):  
Walter L. Miller
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Premature Infants ◽  
Specific Marker ◽  
Fetal Life ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Androgen Excess ◽  
Screening Programs ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency (21OHD) has a worldwide incidence of 1 in 15–20,000. Affected individuals have adrenal insufficiency and androgen excess; the androgen excess begins during fetal life, typically resulting in 46,XX disordered sexual development. In 21OHD, 17-hydroxyprogesterone (17OHP), the steroid proximal to 21-hydroxylase, accumulates. Most industrialized countries have newborn screening programs that measure 17OHP; such screening has permitted rapid detection of newborns with 21OHD, saving lives previously lost to mineralocorticoid deficiency and salt wasting. However, newborn screening is plagued by false positives. 17OHP is above most “cutoff values” in the first 24 h of life, is high in otherwise normal premature infants, and in many term infants with physiologic stress from unrelated diseases. In addition, newborn 17OHP may be elevated in other forms of CAH, including 11-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, and P450 oxidoreductase deficiency. In 21OHD, some of the accumulated intra-adrenal 17OHP is converted to 21-deoxycortisol (21-deoxy) by 11β-hydroxylase (CYP11B1); 21-deoxy is not elevated in premature infants or in other forms of CAH, and hence is a more specific marker for 21OHD. However, 21-deoxy assays have not been generally available until recently, hence experience is limited. We urge clinical investigators, commercial reference laboratories, and newborn screening programs to investigate replacing 17OHP with 21-deoxy as the analyte of choice for studies of 21OHD.

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