scholarly journals Challenges in Neonatal Screening in Health Care System

2018 ◽  
Vol 1 (1) ◽  
pp. 15-17
Author(s):  
Dr. AR Mullaicharam
Keyword(s):  
Health Care ◽  
Health Care System ◽  
Neonatal Screening ◽  
Newborn Infants ◽  
Inherited Disorders ◽  
Congenital Diseases ◽  
Screening Programs ◽  
New Born ◽  
Drug Interventions ◽  
Apparently Healthy

Neonatal screening is a vital process that identifies apparently healthy neonates with serious inherited disorders, which are generally metabolic in origin and correctable by dietary or drug interventions. Comprehensive screening programs for congenital diseases of newborn infants are lacking at an international level.This article will review the challenges involved in the implementation of a sustainable program of new born screening.

Case report: a child with cystic fibrosis and phenylketonuria

2020 ◽  
Vol 1 (2) ◽  
pp. 38-44
Author(s):  
Irina V. Vakhlova ◽  
Anastasia D. Kazachina ◽  
Olga A. Beglyanina
Keyword(s):  
Cystic Fibrosis ◽  
Case Report ◽  
Clinical Practice ◽  
Neonatal Screening ◽  
Genetic Disorders ◽  
Epileptiform Activity ◽  
Autism Spectrum ◽  
Speech Development ◽  
Inherited Disorders ◽  
Congenital Diseases

Background. In the international clinical practice there have been occasional reports of phenylketonuria (PKU) and cystic fibrosis (CF) found simultaneously in the same patient. Both PKU and CF are the inherited disorders characterized by autosomal recessive type of inheritance. Currently the combination of two or more inherited disorders in one patient is considered to be a clinical rarity.Case description. This is a clinical case of two genetic disorders, CF and PKU, combined in a 5-year old patient who had been followed up since birth. Owing to implementation of neonatal screening for inherited and congenital diseases into clinical practice, during the first month of life the infant was diagnosed with CF (diagnostically significant elevation of immunoreactive trypsin [IRT] at the initial [163.2 ng/mL] and repeat testing on day 21 of life [138.7 ng/mL]) and PKU (phenylalanine [PA] level 15.9 mg/dL). Both disorders have been confirmed by genetic tests, i.e., homozygous DelF508 mutation was found in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and P281L mutation in the phenylalanine hydroxylase (PAH) gene was also present in homozygous state. Child’s parents strictly adhered to dietary and treatment recommendations. By the age of 5 years the child developed symptoms of neurological disorder and disorder of the respiratory system, cognitive impairment and delay in speech development, subclinical epileptiform activity with high risk of epilepsy, and chronic inflammation of the respiratory tract.Conclusion. This case report demonstrates the important role of neonatal screening in early diagnosis and timely start of therapy, and underscores the importance of continuous medication in such genetic disorders as CF and PKU. On the whole, such approach brings about a relative preservation of functioning of the most affected organs and systems. By the age of 5 years the child does not form bronchiectases, shows no signs of chronic hypoxia, nutritional deficiency or pronounced neurologic deficit, and is at low risk for the development of autism spectrum disorder. At the same time, the larger scale and longer-term observations are required in order to make the unequivocal conclusions about the prognosis of these diseases under conditions of modern-day medical follow-up.

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.

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.

Should Screening Programs Be Perfect?

PEDIATRICS ◽  
1983 ◽  
Vol 71 (2) ◽  
pp. 301-301
Author(s):  
MARVIN L. MITCHELL
Keyword(s):  
Health Care ◽  
Newborn Screening ◽  
Neonatal Screening ◽  
Screening Programs ◽  
Overwhelming Evidence

In Reply.— Wyatt makes two points regarding the vulnerability of newborn screening programs but only one, in my opinion, has serious implications. With regard to the first, that the pitfalls might be used as an excuse to curtail screening programs seems unlikely. The overwhelming evidence accumulated from all programs involved in neonatal screening indicates that despite the occasional missed case, without such programs, the damage to children and their families would have been incalculable. Faced with this evidence few would have the temerity to attempt to discredit the value of screening programs or limit their involvement in health care.

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 Case report: a child with cystic fibrosis and phenylketonuria

2020 ◽  
Vol 1 (2) ◽  
pp. 38-44
Author(s):  
Irina V. Vakhlova ◽  
Anastasia D. Kazachina ◽  
Olga A. Beglyanina
Keyword(s):  
Cystic Fibrosis ◽  
Case Report ◽  
Clinical Practice ◽  
Neonatal Screening ◽  
Genetic Disorders ◽  
Epileptiform Activity ◽  
Autism Spectrum ◽  
Speech Development ◽  
Inherited Disorders ◽  
Congenital Diseases

Background. In the international clinical practice there have been occasional reports of phenylketonuria (PKU) and cystic fibrosis (CF) found simultaneously in the same patient. Both PKU and CF are the inherited disorders characterized by autosomal recessive type of inheritance. Currently the combination of two or more inherited disorders in one patient is considered to be a clinical rarity.Case description. This is a clinical case of two genetic disorders, CF and PKU, combined in a 5-year old patient who had been followed up since birth. Owing to implementation of neonatal screening for inherited and congenital diseases into clinical practice, during the first month of life the infant was diagnosed with CF (diagnostically significant elevation of immunoreactive trypsin [IRT] at the initial [163.2 ng/mL] and repeat testing on day 21 of life [138.7 ng/mL]) and PKU (phenylalanine [PA] level 15.9 mg/dL). Both disorders have been confirmed by genetic tests, i.e., homozygous DelF508 mutation was found in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and P281L mutation in the phenylalanine hydroxylase (PAH) gene was also present in homozygous state. Child’s parents strictly adhered to dietary and treatment recommendations. By the age of 5 years the child developed symptoms of neurological disorder and disorder of the respiratory system, cognitive impairment and delay in speech development, subclinical epileptiform activity with high risk of epilepsy, and chronic inflammation of the respiratory tract.Conclusion. This case report demonstrates the important role of neonatal screening in early diagnosis and timely start of therapy, and underscores the importance of continuous medication in such genetic disorders as CF and PKU. On the whole, such approach brings about a relative preservation of functioning of the most affected organs and systems. By the age of 5 years the child does not form bronchiectases, shows no signs of chronic hypoxia, nutritional deficiency or pronounced neurologic deficit, and is at low risk for the development of autism spectrum disorder. At the same time, the larger scale and longer-term observations are required in order to make the unequivocal conclusions about the prognosis of these diseases under conditions of modern-day medical follow-up.

In-Hospital Falls of Newborn Infants: Data From a Multihospital Health Care System

PEDIATRICS ◽  
2008 ◽  
Vol 122 (2) ◽  
pp. e277-e280 ◽  
Author(s):  
S. A. Monson ◽  
E. Henry ◽  
D. K. Lambert ◽  
N. Schmutz ◽  
R. D. Christensen
Keyword(s):  
Health Care ◽  
Health Care System ◽  
Newborn Infants ◽  
Care System

scholarly journals Case report: a child with cystic fibrosis and phenylketonuria

2020 ◽  
Vol 1 (2) ◽  
pp. 38-44
Author(s):  
Irina V. Vakhlova ◽  
Anastasia D. Kazachina ◽  
Olga A. Beglyanina
Keyword(s):  
Cystic Fibrosis ◽  
Case Report ◽  
Clinical Practice ◽  
Neonatal Screening ◽  
Genetic Disorders ◽  
Epileptiform Activity ◽  
Autism Spectrum ◽  
Speech Development ◽  
Inherited Disorders ◽  
Congenital Diseases

Background. In the international clinical practice there have been occasional reports of phenylketonuria (PKU) and cystic fibrosis (CF) found simultaneously in the same patient. Both PKU and CF are the inherited disorders characterized by autosomal recessive type of inheritance. Currently the combination of two or more inherited disorders in one patient is considered to be a clinical rarity.Case description. This is a clinical case of two genetic disorders, CF and PKU, combined in a 5-year old patient who had been followed up since birth. Owing to implementation of neonatal screening for inherited and congenital diseases into clinical practice, during the first month of life the infant was diagnosed with CF (diagnostically significant elevation of immunoreactive trypsin [IRT] at the initial [163.2 ng/mL] and repeat testing on day 21 of life [138.7 ng/mL]) and PKU (phenylalanine [PA] level 15.9 mg/dL). Both disorders have been confirmed by genetic tests, i.e., homozygous DelF508 mutation was found in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, and P281L mutation in the phenylalanine hydroxylase (PAH) gene was also present in homozygous state. Child’s parents strictly adhered to dietary and treatment recommendations. By the age of 5 years the child developed symptoms of neurological disorder and disorder of the respiratory system, cognitive impairment and delay in speech development, subclinical epileptiform activity with high risk of epilepsy, and chronic inflammation of the respiratory tract.Conclusion. This case report demonstrates the important role of neonatal screening in early diagnosis and timely start of therapy, and underscores the importance of continuous medication in such genetic disorders as CF and PKU. On the whole, such approach brings about a relative preservation of functioning of the most affected organs and systems. By the age of 5 years the child does not form bronchiectases, shows no signs of chronic hypoxia, nutritional deficiency or pronounced neurologic deficit, and is at low risk for the development of autism spectrum disorder. At the same time, the larger scale and longer-term observations are required in order to make the unequivocal conclusions about the prognosis of these diseases under conditions of modern-day medical follow-up.

Sign in / Sign up

Export Citation Format

Share Document