Pitfalls in Screening for Neonatal Hypothyroidism

PEDIATRICS ◽  
1982 ◽  
Vol 70 (1) ◽  
pp. 16-20
Author(s):  
◽  
Keyword(s):  
New England ◽  
Human Error ◽  
Screening Program ◽  
Delayed Diagnosis ◽  
Thyroid Stimulating Hormone ◽  
Diagnosis And Treatment ◽  
Clinical Judgement ◽  
Neonatal Hypothyroidism ◽  
Screening Programs ◽  
Blood Specimens

This report reviews problems encountered during the first five years of operation of the New England Regional Screening Program. Human error was responsible for either overlooked or delayed diagnosis and treatment in 14/159 infants with hypothyroidism. This group consisted of three infants who were never tested, six infants whose diagnosis was missed because of errors during the processing of the blood specimens, and five additional children in whom the diagnosis of hypothyroidism could not be made at birth because the concentrations of thyroid-stimulating hormone were not elevated. Many of the problems, most of which occurred during the first two years of the study, have been eliminated by improved communication and monitoring. This study emphasizes the potential vulnerability of all screening programs and underscores the need for physicians to continue to exercise their best clinical judgement regardless of the circumstances.

Screening for Hypothyroidism

PEDIATRICS ◽  
1983 ◽  
Vol 72 (2) ◽  
pp. 263-264
Author(s):  
Howard W. Kilbride ◽  
Robert J. Lull ◽  
Heinz G. Lehman
Keyword(s):  
New England ◽  
Congenital Hypothyroidism ◽  
Human Error ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
The Past ◽  
Cause Of Failure ◽  
Stimulating Hormone

Although the New England Regional Screening Program report1 indicates that human error is the most likely cause of failure to detect congenital hypothyroidism in infants, our experience suggests that compensated hypothyroidism might be missed in some newborns unless screening includes a thyroid-stimulating hormone (TSH) assay and a thyroxine (T4) concentration. In the past 2 years, we have diagnosed congenital hypothyroidism in three infants. In at least one of these infants, the disease would not have been identified by T4 concentration screening alone.

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.

Transient Neonatal Hypothyroidism Detected by Newborn Screening Program

PEDIATRICS ◽  
1977 ◽  
Vol 60 (4) ◽  
pp. 538-541
Author(s):  
STEPHEN H. LAFRANCHI ◽  
NEIL R. M. BUIST ◽  
WILLIAM H. MURPHEY ◽  
P. REED LARSEN ◽  
THOMAS P. FOLEY
Keyword(s):  
Newborn Screening ◽  
Filter Paper ◽  
Metabolic Diseases ◽  
Screening Program ◽  
Newborn Infants ◽  
Thyroid Stimulating Hormone ◽  
Newborn Screening Program ◽  
Neonatal Hypothyroidism ◽  
Blood Samples ◽  
Stimulating Hormone

A screening program for the detection of neonatal hypothyroidism has been in effect in Oregon since May 1975. Blood samples are obtained from all newborn infants to test for phenylketonuria and other metabolic diseases. A second specimen is obtained from more than 90% of these infants who are retested at 4 to 6 weeks of age. These Guthrie filter paper blood samples are analyzed for thyroxine (T4), and all samples with a low T4 value are analyzed for thyroid stimulating hormone (TSH). At the outset of the program, it was speculated that the screening might detect infants who had reduced

scholarly journals Approach to the Diagnosis and Treatment of Neonatal Hypothyroidism

2011 ◽  
Vol 96 (10) ◽  
pp. 2959-2967 ◽  
Author(s):  
Stephen H. LaFranchi
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Neurodevelopmental Outcome ◽  
Diagnosis And Treatment ◽  
Thyroid Function Tests ◽  
Free T4 ◽  
Neonatal Hypothyroidism ◽  
Serum Free ◽  
Screening Programs ◽  
Diagnostic Studies

Abstract Congenital hypothyroidism, occurring in 1:3000 newborns, is one of the most common preventable causes of mental retardation. Neurodevelopmental outcome is inversely related to the age of diagnosis and treatment. Infants detected through newborn screening programs and started on l-T4 in the first few weeks of life have a normal or near-normal neurodevelopmental outcome. The recommended starting dose of l-T4 (10–15 μg/kg · d) is higher on a weight basis than the dose for children and adults. Tailoring the starting l-T4 dose to the severity of the hypothyroidism will normalize serum T4 and TSH as rapidly as possible. It is important to obtain confirmatory serum thyroid function tests before treatment is started. Further diagnostic studies, such as radionuclide uptake and scan and ultrasonography, may be performed to determine the underlying cause of hypothyroidism. Because results from these tests generally do not alter the initial treatment decision, however, these diagnostic studies are rarely indicated. The developing brain has a critical dependence on thyroid hormone for the first 2–3 yr of life; thus, monitoring occurs at more frequent intervals than in older children and adults. Serum free T4 and TSH should be checked at intervals frequent enough to ensure timely adjustment of l-T4 dosing and to keep serum free T4 and TSH levels in target ranges. Given the success of early detection and treatment of neonates with congenital hypothyroidism, a public health mandate should be to develop similar programs for the 75% of babies worldwide who are born in areas without newborn screening programs.

Neonatal Hypothyroidism Detected by the Northwest Regional Screening Program

PEDIATRICS ◽  
1979 ◽  
Vol 63 (2) ◽  
pp. 180-191 ◽  
Author(s):  
Stephen H. LaFranchi ◽  
William H. Murphey ◽  
Thomas P. Foley ◽  
P. Reed Larsen ◽  
Neil R.M. Buist
Keyword(s):  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Clinical Signs ◽  
Thyroid Stimulating Hormone ◽  
Primary Hypothyroidism ◽  
Screening Tests ◽  
Serum Samples ◽  
Neonatal Hypothyroidism ◽  
Serum T4 ◽  
Common Etiology

The Northwest Regional Screening Program to detect congenital hypothyroidism in infants born in Oregon, Montana, Alaska, and Idaho (combined birthrate of 69,000/yr) was added to our ongoing screening program in 1975. The program utilizes dried blood filter paper specimens collected routinely in the first few days of life in all four states and again at about 6 weeks of age in Oregon only. The screening tests consist of an initial thyroxine (T4) measurement; a thyroid-stimulating hormone (TSH) determination is performed on those specimens with T4 concentrations in the lowest 3% group. Serum samples obtained by venipuncture are requested for confirmation of the diagnosis. In the first two years of the program, 25 infants with primary hypothyroidism were detected among 110,667 infants screened, a frequency of 1:4,430. Fourteen cases of thyroxine-binding globulin deficiency were also detected, a frequency of 1:7,900. Using the T4 followed by TSH testing approach, the frequency of requests for repeat specimens was 0.4% in Oregon and 0.05% in the other states. The cost per specimen was $1.96. The majority of infants lacked clinical signs or symptoms of hypothyroidism; only one infant was clinically suspected of having hypothyroidism prior to detection. The most common neonatal symptoms were constipation, lethargy, and prolonged jaundice, while the most common physical signs were hypotonia, umbilical hernia, and large fontanels. Thyroid scans showed the most common etiology to be thyroid aplasia, followed by an ectopic gland, hypoplasia, and goitèr. Serum T4 concentrations were lowest in those infants with aplasia, intermediate in infants with an ectopic gland or hypoplasia, and normal in the infant with the goiter. Neonatal hypothyroidism varies in degree and has several different causes; the capacity to secrete thyroid hormone, the duration before hypothyroidism becomes clinically manifest, and possibly the eventual prognosis for intellectual function depend on the nature of the underlying cause. While the mean age at treatment was 59 days, the goal of diagnosing congenital hypothyroidism and treating affected infants by 1 month of age seems realistic.

Influence of topical iodine-containing antiseptics used during delivery on recall rate of congenital hypothyroidism screening program

2017 ◽  
Vol 30 (9) ◽  
Author(s):  
Majid Valizadeh ◽  
Farzaneh Moezzi ◽  
Zohreh Khavassi ◽  
Mohammad Movahedinia ◽  
Seideh Mazloomzadeh ◽  
...  
Keyword(s):  
Phase I ◽  
Congenital Hypothyroidism ◽  
Phase Ii ◽  
Screening Program ◽  
Recall Rate ◽  
Local Hospital ◽  
Screening Programs ◽  
Blood Specimens ◽  
Heel Prick ◽  
Tsh Levels

AbstractBackground:The proportion of newborns recalled during neonatal screening programs for congenital hypothyroidism (CH) varies substantially by country and may be higher in settings where povodine iodine (PVP-I) is used during delivery. We assessed this hypothesis by substituting PVP-I for chlorhexidine (CHL) and evaluated the reduction in the recall rate of the Irainian newborn screening program.Methods:This study investigated 2282 neonates of mothers admitted to a local hospital for delivery between December 2012 and October 2013. We measured thyorid stimulating hormone (TSH) levels in heel-prick blood specimens of infants, aged between 3 and 5 days, born to mothers who received PVP-I (phase I) and those who received CHL after withdrawal of PVP-I from obstetric procedures (phase II). Then we compared the median TSH levels and the recall rate based on a TSH level ≥5 mU/L.Results:Of 2282 cases, 1094 infants were born to mothers exposed to PVP-I during phase I (PVP-I group) and 1188 ones were born to mothers exposed to chlorhexidine in phase II (CHL group); 6.56% of the PVP-I group and 1.91% of the CHL group were recalled later during screening (p<0.001). The median TSH level was significantly higher in the PVP-I group compared to the CHL group (1.35 vs. 1.00, p<0.001).Conclusions:Replacement of iodine-containing antiseptics by iodine-free ones, during delivery resulted in a significant reduction in the recall rate of the Iranian screening program for CH.

Human Papillomavirus Selected Properties and Related Cervical Cancer Prevention Issues

2020 ◽  
Vol 26 (18) ◽  
pp. 2073-2086
Author(s):  
Saule Balmagambetova ◽  
Andrea Tinelli ◽  
Ospan A. Mynbaev ◽  
Arip Koyshybaev ◽  
Olzhas Urazayev ◽  
...  
Keyword(s):  
Cervical Cancer ◽  
Human Papillomavirus ◽  
Cancer Prevention ◽  
Screening Program ◽  
Hpv Infection ◽  
Cervical Cancer Prevention ◽  
Point Of View ◽  
Prevention Strategies ◽  
Middle Income ◽  
Screening Programs

High-risk human papillomavirus strains are widely known to be the causative agents responsible for cervical cancer development. Aggregated damage caused by papillomaviruses solely is estimated in at least 5% of all malignancies of the human body and 16% in cancers that affect the female genital area. Enhanced understanding of the complex issue on how the high extent of carcinogenicity is eventually formed due to the infection by the Papoviridae family would contribute to enhancing current prevention strategies not only towards cervical cancer, but also other HPV associated cancers. This review article is aimed at presenting the key points in two directions: the current cervical cancer prevention and related aspects of HPV behavior. Virtually all applied technologies related to HPV diagnostics and screening programs, such as HPV tests, colposcopy-based tests (VIA/VILI), conventional and liquid-based cytology, currently available are presented. Issues of availability, advantages, and drawbacks of the screening programs, as well as vaccination strategies, are also reviewed in the article based on the analyzed sources. The current point of view regarding HPV is discussed with emphasis on the most problematic aspect of the HPV family concerning the observed increasing number of highly carcinogenic types. Present trends in HPV infection diagnostics throughout the human fluids and tissues are also reported, including the latest novelties in this field, such as HPV assay/self-sample device combinations. Besides, a brief outline of the related prevention issues in Kazakhstan, the leading country of Central Asia, is presented. Kazakhstan, as one of the post-soviet middle-income countries, may serve as an example of the current situation in those terrains, concerning the implementation of globally accepted cervical cancer prevention strategies. Along with positive achievements, such as the development of a nationwide screening program, a range of drawbacks is also analyzed and discussed.

scholarly journals Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2021 ◽  
Vol 7 (2) ◽  
pp. 22
Author(s):  
Jamie Matteson ◽  
Stanley Sciortino ◽  
Lisa Feuchtbaum ◽  
Tracey Bishop ◽  
Richard S. Olney ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Program Implementation ◽  
Screening Program ◽  
Birth Prevalence ◽  
Variant Of Uncertain Significance ◽  
Implementation Challenges ◽  
Screening Programs ◽  
Uncertain Significance ◽  
Long Term Follow Up

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

scholarly journals Epidemiological Findings of Refractive Errors and Amblyopia among the Schoolchildren in Hatta Region of the United Arab Emirates

2021 ◽  
pp. 1-7
Author(s):  
Salam Chettian Kandi ◽  
Hayat Ahmad Khan
Keyword(s):  
Visual Acuity ◽  
Visual Field ◽  
United Arab Emirates ◽  
Refractive Error ◽  
Screening Program ◽  
Low Vision ◽  
Refractive Errors ◽  
Vision Screening ◽  
Screening Programs ◽  
School Based

<b><i>Introduction:</i></b> Uncorrected refractive errors and amblyopia pose a major problem affecting schoolchildren. We had previously observed that many schoolchildren in the Hatta region presented to the ophthalmology clinic with uncorrected refractive errors and amblyopia, which led us to undertake this research. As per the WHO, the term “visual impairment” can be “low vision” or “blindness.” Based on the presenting vision, “low vision” is defined for children who have vision of &#x3c;6/18 to 3/60 or having visual field loss to &#x3c;20° in the better-seeing eye. Children defined to have “blindness” have presenting vision of &#x3c;3/60 or corresponding visual field of &#x3c;10°. <b><i>Purpose:</i></b> To estimate the magnitude of uncorrected refractive errors and amblyopia among the schoolchildren aged 6–19 years and to assess the efficacy of school-based refractive error screening programs in the Hatta region of the United Arab Emirates. <b><i>Methods:</i></b> An epidemiological, cross-sectional, descriptive study was conducted on the entire student population studying in the government schools of the region. Those who failed the Snellen visual acuity chart test and those who were wearing spectacles were evaluated comprehensively by the researcher in the Department of Ophthalmology of the Hatta Hospital. Data were entered in the Refractive Error Study in School Children (RESC) eye examination form recommended by the WHO, and were later transferred to Excel sheets and analyzed by SPSS. <b><i>Results:</i></b> 1,591 students were screened and evaluated from the end of 2016 to mid-2017. About 21.37% (<i>n</i> = 340) had impaired vision with 20.9% (<i>n</i> = 333) refractive errors, of which 58% were uncorrected. Among the refractive error group, 19% (64 subjects) had amblyopia (4% of total students). The incidence of low vision was 9.5% and blindness was 0.38%. Low vision was found to be 9.5% and blindness 0.38%, taking in to account presenting visual acuity rather than best-corrected visual acuity for defining low vision and blindness. <b><i>Conclusion:</i></b> A significant number of students were detected to have uncorrected refractive errors among the vision impaired group (59%, <i>n</i> = 197) despite a school-based vision screening program in place. Seventy-eight percent of the amblyopia cases (<i>n</i> = 50) were found to be in the 11–19 years age group. Noncompliance with optical corrections was the reason for the high number of cases. A rigorous vision screening program and refractive services, complimented with awareness among parents and teachers, are recommended.

scholarly journals Newborn Screening for Congenital Hypothyroidism in Japan

2021 ◽  
Vol 7 (3) ◽  
pp. 34
Author(s):  
Kanshi Minamitani
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Failure To Thrive ◽  
Thyroid Stimulating Hormone ◽  
Low Birth Weight Infants ◽  
Term Infants ◽  
Screening Programs ◽  
Screening Strategies

Congenital hypothyroidism (CH) is the most common preventable cause of intellectual impairment or failure to thrive by early identification and treatment. In Japan, newborn screening programs for CH were introduced in 1979, and the clinical guidelines for newborn screening of CH were developed in 1998, revised in 2014, and are currently undergoing further revision. Newborn screening strategies are designed to detect the elevated levels of thyroid stimulating hormone (TSH) in most areas of Japan, although TSH and free thyroxine (FT4) are often measured simultaneously in some areas. Since 1987, in order not to observe the delayed rise in TSH, additional rescreening of premature neonates and low birth weight infants (<2000 g) at four weeks of life or when their body weight reaches 2500 g has been recommended, despite a normal initial newborn screening. Recently, the actual incidence of CH has doubled to approximately 1:2500 in Japan as in other countries. This increasing incidence is speculated to be mainly due to an increase in the number of mildly affected patients detected by the generalized lowering of TSH screening cutoffs and an increase in the number of preterm or low birth weight neonates at a higher risk of having CH than term infants.

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