scholarly journals Targeted Secondary Screening for Congenital Hypothyroidism in High-Risk Neonates: A 9 Year Review in a Large California Health Care System

2021 ◽  
Vol 7 (4) ◽  
pp. 81
Author(s):  
Alan B. Cortez ◽  
Bryan Lin ◽  
Joshua A. May
Keyword(s):  
High Risk ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Low Birthweight ◽  
Screening Program ◽  
Primary Screening ◽  
Screening Performance ◽  
Secondary Screening ◽  
Receive Treatment ◽  
To Receive

Secondary screening for missed congenital hypothyroidism (CH) has been introduced sporadically, but its necessity and optimal strategy have not been recognized. We hypothesized that a simple clinical protocol (performed by a medical group without a governmental mandate) targeting infants at high risk for missed CH can identify cases. We performed a 9-year retrospective review of 338,478 neonates within a California health plan following the introduction of thyrotropin (TSH) secondary screening for neonates at high risk for missed CH due to very-low-birthweight (VLBW), hospitalized congenital heart disease (CHD), and same-sex multiples (SSM). Screening performance by day 60 of life was 95% successful for VLBW and >50% for CHD and SSM, leading to an additional 35% CH treated cases despite re-testing only 1.7% of the cohort. Infants with VLBW or CHD were 33 times more likely (190 times more likely for CHD with Down Syndrome) to receive treatment for CH than random infants diagnosed by primary screening (p < 0.001), and 92% of these infants were not found by primary newborn screening. Currently, permanent disease has been documented in 84% of CH by primary screening compared to 27% by secondary screening (p < 0.001). This targeted secondary screening program identifies and treats additional CH cases after TSH-only newborn screening.

scholarly journals Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

2015 ◽  
Vol 2 ◽  
pp. 2333794X1456719 ◽  
Author(s):  
Xin Fan ◽  
Shaoke Chen ◽  
Jiale Qian ◽  
Suren Sooranna ◽  
Jingi Luo ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
Who Guidelines ◽  
Newborn Screening Program ◽  
Study Results ◽  
Stimulating Hormone

Background. A newborn screening program (NSP) for congenital hypothyroidism (CH) was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH) or transient CH (TCH) after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.

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 Universal Implementation of Newborn Screening in India

2020 ◽  
Vol 6 (2) ◽  
pp. 24 ◽  
Author(s):  
Thomas Mookken
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Universal Screening ◽  
Screening Program ◽  
Developed Countries ◽  
Screening Programs ◽  
Successful Program ◽  
Personal Experiences ◽  
High Incidence ◽  
Glucose 6 Phosphate Dehydrogenase

Newborn screening is a successful program in many developed countries. In India, the benefits of dried blood spot screening have been recognized and that screening is slowly gaining traction. There are significant issues standing in the way of universal implementation of a newborn screening program in India: awareness, cost, advocacy, public policy, and politics. Three regional screening programs, Chandigarh, Goa, and Kerala could serve as models for other programs in India. The data for this commentary were based on personal experiences from managing public newborn screening programs, searches on PubMed and Google, and personal interactions with experts in the field. The overwhelming recommendation is to universally screen for congenital hypothyroidism in India, because it is easy and inexpensive to treat, with excellent outcomes. It would also be beneficial to consider screening universally for glucose-6-phosphate dehydrogenase deficiency due to its high incidence and ease of treatment. Finally, sickle cell disease should be screened in those areas in India where it is prevalent due to the costs associated with universal screening. Achieving universal screening is a challenge, and it is very difficult to predict when every baby born in India will be screened for at least congenital hypothyroidism.

scholarly journals Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program

2012 ◽  
Vol 28 (9) ◽  
pp. 1623-1631 ◽  
Author(s):  
Judy Botler ◽  
Luiz Antonio Bastos Camacho ◽  
Marly Marques da Cruz
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Ethnic Composition ◽  
Health Issues ◽  
Newborn Screening Program ◽  
Cell Disease ◽  
Laboratory Methods ◽  
Detection Coverage

In this study, the frequency of detected congenital hypothyroidism, phenylketonuria and haemoglobinopathies in the State of Rio de Janeiro's (Brazil) Newborn Screening Program (NBSP) was analyzed between the years of 2005 and 2007. There were two Newborn Screening Reference Centers (named NSRC A and B) with programmatic differences. In 2007, overall detection coverage reached 80.7%. The increase in the incidence of congenital hypothyroidism (1:1,030 in 2007) was attributed to the reduction of neonatal TSH value limits over time. The incidence discrepancy of phenylketonuria between NSRC A (1:28,427) and B (1:16,522) might be partially explained by the small number of cases. The incidence of sickle cell disease and its traits were uniformly high (1:1,288 and 1:21, respectively). This was coherent with the ethnic composition of the population. The differences in laboratory methods and critical values, in addition to other programmatic issues, may explain the variances in the results and limited analysis of the role of biological and environmental determinants in the occurrence of these diseases.

scholarly journals Neonatal Thyroid-Stimulating Hormone Screening as an Indirect Method for the Assessment of Iodine Status in Central Siberia

2018 ◽  
Vol 3 (4) ◽  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Iodine Deficiency ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
The Arctic ◽  
Central Siberia ◽  
Iodine Status ◽  
The Republic ◽  
Stimulating Hormone

Background: Iodine deficiency is associated with goiter and impaired brain function. Neonatal thyroid-stimulating hormone (TSH) screening for congenital hypothyroidism used as an indicator of the degree of iodine deficiency and of its control. An increased frequency of thyroid-stimulating hormone (TSH) measurements above 5 mIU/L in newborn screening corresponds to the impaired iodine status of the population. The aim: to estimate the iodine deficiency and the effectiveness of iodine prophylaxis in Krasnoyarsk territory, Republics of Tuva and Khakassia according the results of neonatal TSH_screening. Methods: An 18-year analysis was performed in 34,980 newborns participating in the national thyroid newborn screening program. The TSH concentration was measured in dry blood spots collected by heel stick on filter paper, 96 hours after birth, using DELFIA method. Results: According to the data of the congenital hypothyroidism screening the rate of TSH < 5 mU/1 was 11.8% in Krasnoyarsk territory (23.9% in 2000) and corresponded to mild iodine deficiency. In different regions of Krasnoyarsk territory the rate of TSH < 5 mU/1 in the newborn varied from 3.5% to 23.7%. The highest values were marked in the Arctic peninsula Taimyr, in cities Zheleznogorsk (nuclear facility) and Sosnovoborsk, in Irbeysky, Suchobuzimsky, Eniseysky, Tuchtetsky, Novoselovsky regions (20.9–23.7%). In the Republic of Khakasia the rate of TSH < 5 mU/1 was 12.5%. In the Republic of Tyva the rate of TSH < 5 mU/1 was – 6.6% (38.6% in 1997; 11.5% in 2000). These results indicate mild iodine deficiency. Conclusion: Our investigations show mild iodine deficiency in Central Siberia demanding continuous adequate iodine prevention. Additional assessment of the iodine intake in the regions with mild iodine deficiency is needed to prevent suboptimal cognitive and psychomotor outcomes.

scholarly journals MON-101 Costa Rican National Primary Congenital Hypothyroidism Screening Program Evaluation. Retrospective Cohort Trial Between 2015 and 2017

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Alejandro Cob ◽  
Fred Cavallo Aita ◽  
Agnes Rodríguez
Keyword(s):  
Newborn Screening ◽  
Sensitivity And Specificity ◽  
Congenital Hypothyroidism ◽  
Clinical Evaluation ◽  
Screening Test ◽  
Screening Program ◽  
Costa Rican ◽  
International Standards ◽  
Newborn Screening Program ◽  
The Third

Abstract Congenital hypothyroidism (CH) is one of the leading causes of intellectual impairment worldwide in infancy. The newborn screening has been able to prevent this mental disability, by a prompt initiation of therapy. Over the last years the incidence of HC has been increasing, mainly by lowering the screening cut-off level that leads to detection of milder cases. There is conflicting evidence if children with mild CH without treatment may develop neurological impairment in the future. Costa Rican newborn screening program in divided in three stages, measuring serum TSH concentrations from a heel prick aliquot of capillary blood dried onto a filter paper. Each test has different TSH cut-off values to determine if the newborn needs a clinical evaluation by an endocrinologist, needs another screening test or rules out hypothyroidism. We developed an observational, descriptive, retrospective study, based on medical records, to evaluate our newborn screening program performance. The study included the total national population of screened newborns from 2015 to 2017. Descriptive analysis and analytical analysis of variables were done, and test’s sensitivity and specificity were determined. The study analyzed 204.241 screened newborns, and 145 children referred to the Endocrinology Department of the National Children Hospital. This population represents 97% of births in these 3 years. The recall rate for a first positive test was 0.3%. Congenital hypothyroidism was confirmed in 73% of children referred to the Endocrinology Department because of a positive screening. Incidence was 1/1926 births. Detection rate was independent of birth weight nor gestational age. 45.3% of children diagnosed with CH were detected after the first screening test, 52.8% after the second screening test and 1.9% after the third screening test. Screening test analysis showed high sensitivity and specificity, with diagnostic accuracy above 90%, except for the third screening test. Free thyroxine measurements alone weren’t useful to predict CH diagnosis. The coverage of the national neonatal screening program extends almost to the entire population. Our test specificity is within international standards. Incidence of CH in Costa Rica is similar to that reported in medical literature. With current detection cut-off level, there is no need of performing a second mandatory evaluation to preterm and low weight newborns. The third screening test has a low performance rate, does not improve detection of children with CH significantly, and delays clinical evaluation by the endocrinologist. Prognosis of treated children with CH is excellent, with no evidence of severe cognitive deficit.

HIGH‐RISK HPV testing as the primary screening method in an organized regional screening program for cervical cancer: the value of HPV16 and HPV18 genotyping?

Apmis ◽  
2019 ◽  
Vol 127 (11) ◽  
pp. 710-716
Author(s):  
Saara Kares ◽  
Olga Veijalainen ◽  
Ivana Kholová ◽  
Mika Tirkkonen ◽  
Risto Vuento ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
High Risk ◽  
Screening Program ◽  
Screening Method ◽  
Hpv Testing ◽  
Primary Screening ◽  
High Risk Hpv

α-Fetoprotein and Hypothyroidism in Infants

PEDIATRICS ◽  
1992 ◽  
Vol 90 (6) ◽  
pp. 1008-1009
Author(s):  
G. J. MIZEJEWSKI ◽  
K. A. PASS
Keyword(s):  
New York ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
New York State ◽  
Elevated Serum ◽  
Thyroid Stimulating Hormone ◽  
Newborn Screening Program ◽  
Newborn Period ◽  
York State

To the Editor.— We recently have documented a relationship between serum α-fetoprotein (AFP) and congenital hypothyroidism (CH) in the newborn period. Previous studies in our laboratory and others had reported a relationship between elevated serum AFP and elevated thyroid-stimulating hormone (TSH)/low thyroxine T4 in newborns and infants in the first few months of life.1-4 The New York State Newborn Screening Program for CH routinely screens more than 300 000 specimens per year diagnosing 120 to 140 confirmed cases of CH annually.

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