Short Report: False-negative primary neonatal thyroid screening: the need for clinical vigilance and secondary screening

2003 ◽  
Vol 10 (1) ◽  
pp. 2-4 ◽  
Author(s):  
K A Yunis ◽  
M R Nasr ◽  
G Lepejian ◽  
S Najjar ◽  
R Daher

The screening of newborn babies for congenital hypothyroidism has changed the natural history of this abnormality. We describe here a case of a female patient with congenital hypothyroidism that was missed by primary neonatal thyroid screening (using thyroid-stimulating hormone) at two days of age; it was detected only after the development and persistence of jaundice during the first three weeks of life. A normal neonatal screening result does not preclude the development of hypothyroidism later in infancy. Clinical vigilance must be maintained by practitioners. A second screening between two and six weeks of age may be useful in order to detect the few cases missed at first screening.

2014 ◽  
Vol 17 (1) ◽  
pp. 31-35 ◽  
Author(s):  
V. Anastasovska ◽  
Koviloska R. ◽  
Kocova M.

Abstract Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation in children. Diagnosis is difficult at birth without neonatal screening. Neonatal thyroid screening was established in Prilep, Republic of Macedonia as an integral part of the nationwide screening program. To estimate the prevalence of CH in this region, neonatal thyroid screening was performed on 9757 newborns, during the period 2002-2011. The DELFIA method was applied to measure the thyroid-stimulating hormone (TSH) concentration in dried blood spot samples on standard filter paper taken 48 hours after birth by heel-stick. The TSH cut-off level was 10 mU/L. The neonatal thyroid screening coverage was 93.4%. Eight newborns with CH were detected, with an incidence of 1:1220 live births, significantly higher compared to the nationwide results 1:2602. The TSH level was not significantly dependent on the gender of the newborn. There was a statistically significant difference between the TSH level and the timing of newborn screening sampling (p <0.05) and between the TSH level and the newborn birth weight (p = 0.01). One point ninety-two percent of newborns with TSH levels above 5 mU/L indicated an iodine sufficiency in Prilep. The incidence of CH in Prilep, which is higher when compared with that reported in surrounding countries, might be a consequence of the higher percentage of the Romany population in this region. Further analysis of this population in other regions is warranted.


PEDIATRICS ◽  
1996 ◽  
Vol 98 (1) ◽  
pp. 41-44
Author(s):  
Judy G. Saslow ◽  
Ernest M. Post ◽  
Carol A. Southard

Objective. As neonatal discharge before 24 hours of life becomes commonplace, the rejection of congenital hypothyroidism (CH) screening specimens obtained too early has created the need for numerous additional tests. We sought to determine whether the specimens obtained before 24 hours could be used safely. Methods. During a 31-day period we measured thyrotropin in all thyroid-screening specimens that had been obtained before 24 hours. We also examined the early specimens from every infant diagnosed in New Jersey with CH during 1993 or 1994. Results. Among the 663 specimens, those obtained at or before 12 hours and those from infants with birth weights less than 2500 g had too many low thyroxine results to be useful. Among the 515 specimens obtained at more than 12 to 24 hours from newborns weighing 2500 g or more, 37 (7%) had low thyroxine levels and 12 (2.3%) had thyrotropin levels of 20 µIU/mL (mU/L) or higher. Four hundred seventy-one of the 515 infants had subsequent specimens obtained at more than 24 hours, and none of the results were abnormal. There was no child weighing more than or equal to 2500 g who was diagnosed with CH in 1993 and 1994 whose specimen obtained at 24 hours or less was normal. Conclusions. Accepting specimens obtained at more than 12 to 24 hours from infants weighing 2500 g or more would have resulted in more than the usual number of false-positive results but no false-negative results. This would have decreased the requests for additional specimens by more than 90%.


1995 ◽  
Vol 53 (4) ◽  
pp. 360-361 ◽  
Author(s):  
Thomas G. Evans ◽  
Richard D. Pearson ◽  
Maria Jania Teixeira ◽  
Anastacio de Queiroz Sousa

2020 ◽  
Vol 11 (3) ◽  
pp. 3177-3182
Author(s):  
Suresh S Choudhary ◽  
Langade R A ◽  
Kshirsagar V Y

A hospital-based prospective study was conducted with 1200 neonates to evaluate the normal values of cord blood TSH and its variations among term babies and identify maternal factors affecting the cord blood TSH. ResultsMajority of the mothers (53.8%) were in the age group of 26-35 years.44.6% mothers were primigravida, None of the mothers had a history of anti-thyroid drug intake or a history of maternal goitre. Majority of the mothers (97.1%) were from a rural area, 70 (55.11%) and 22 (17.32%) mothers developed hypertension and hypothyroidism respectively while 20 (15.74%) and 15 (11.81%) patients developed Gestational diabetes mellitus and HTN+GDM respectively of 127 mothers with antenatal complications: 708 (59%) and 48 (4%) newborns delivered through Normal Vaginal Delivery. Maximum neonates (98.9%) were Appropriate for Gestational Age (AGA) while 0.8%. The incidence of male and female neonates was 640 (53.3%) and 560 (46.7%) respectively. 655 (54.6%) and 531 (44.3%) neonates weighed in the range of 2.501 – 3.000 kgs and 3.001– 3.500 kgs respectively. 1125 (93.7%) neonates had an APGAR score of 5-7. Eighty-two neonates had CBTSH level of >20mIU/L. Eighty-two neonates with CBTSH level of >20mIU/L were followed up on 7thday and 21stday of life. On 7th day, 12 neonates had raised TSH and low T4.On the 21st day out of these 12 neonates, only two neonates had significant raised TSH and low values of T4. Treatment was started for these two neonates. The CBTSH levels were found to increase with increasing maternal age. There was a significant association of CBTSH levels and maternal age, mode of delivery, antenatal complications. There is an urgent need for adopting universal screening of all neonates for congenital hypothyroidism. Babies with CBTSH levels of >20mIU/L should be evaluated on 7th and 21st day of life for TSH and T4 levels for earlier interpretation of congenital hypothyroidism.


2005 ◽  
Vol 12 (4) ◽  
pp. 166-169 ◽  
Author(s):  
Dorota Tylek-Lemańska ◽  
Małgorzata Kumorowicz-Kopiec ◽  
Jerzy Starzyk

Objectives: Thyroid-stimulating hormone (TSH), normally a reliable screening test for congenital hypothyroidism (CH), may fail to detect cases among infants who have low and very low birth weight. The purpose of this study was to identify neonates with false-negative screening results. Setting: A province in Poland in which 3854 neonates had body weight ≤2500 g, between 1999 and 2001. Methods: TSH levels in blood on filter paper were measured in all neonates between the third and sixth days after birth, but were repeated in low and very low birth weight infants after four weeks of age. Results: The repeat test showed TSH levels ≥ 10 mIU/L in 19 of the 3854 low birth weight neonates. The final diagnosis in these neonates was permanent CH in two, transient CH in five, possible compensated CH in six and transient high TSH in six. Of the 19, 16 (84%) required iodine and/or thyroxine replacement therapy. Conclusions: In neonates with low and very low birth weight, normal TSH levels measured between the third and sixth day of life do not exclude thyroid dysfunction, but a repeat TSH measurement after the fourth week of life identifies the false-negative results. In our data, the prevalence of primary and secondary hypothyroidism (both permanent and transient) was about 0.5%.


2005 ◽  
Vol 5 (4) ◽  
pp. 26-29 ◽  
Author(s):  
Husref Tahirović ◽  
Alma Toromanović

Primary congenital hypothyroidism is a common preventable cause of mental retardation. Neonatal thyroid screening is highly successful in early diagnosis and the improvement of developmental prognosis in the hypothyroid neonate. However, rarely cases could be missed, so doctors must be aware of the earl symptoms and signs of hypothyroidism. Therefore, the purpose of this study was to emphasize the presenting clinical features of primary congenital hypothyroidism at the age of diagnosis. The study population included 17 children with primary congenital hypothyroidism who attended the Department of Pediatrics, University Clinical Center Tuzla between 1986 and 1999. The diagnosis of all patients was confirmed by serum thyroid function tests (T4 and TSH). Of the 17 patients 10 (58.8%) were diagnosed in the first three months of life and 3 of them (17.6%) between fourth and sixth month of life. Four children (23.5%) were diagnosed after the age of six months. In the first three months of life hypothermia, constipation, jaundice, poor feeding, hoarse cry, macroglossia and hypoactivity were the moste common symptoms. Among the 17 patients with primary congenital hypothyroidism 5 of them (29.4 %) were diagnosed to have disgenetic thyroid tissue and 12 (70.6%) as having dyshormonogenesis. TSH and T4 levels were higher in patients in whom thyroid tissue was dysgenetic as comapared with those with dyshormonogenesis but the difference was not statistically significant (p > 0.05). Now it is expected that neonatal screening program in Bosnia and Herzegovina Federation will contribute to the detection of primary congenital hypothyroidism in early days of life. However, until an effective screening test is not yet routine in whole country, paediatricians should consider the diagnosis of hypothyroidism whenever it is clinically suggested.


2021 ◽  
Vol 8 (2) ◽  
pp. 280
Author(s):  
Vidhyadhara Naik T. L. ◽  
Bineet Panigrahi ◽  
Sanjukta Panda

Background: Congenital hypothyroidism is one of the most common preventable etiologies of mental retardation. The worldwide incidence of CH ranges from 1 in 3000 to 1 in 4000 live newborn. Objective of the study was to know the incidence of congenital hypothyroidism in this part of the country, which is necessary to understand the burden of congenital hypothyroidism to the society.Methods: Primary serum TSH measurement in screening neonates with backup thyroxine (T4) determination in infants with high TSH levels (>20 mIU/l). TSH and FT4 were estimated by chemi luminescence immunoassay (CLIA) method using reagent monobind, INC.Results: Serum TSH of screened neonates ranged between 0.16 mIU/l and 80.32 mIU/l, Mean±SD of sTSH being 5.80±3.96 mIU/l. Out of 2212 screened newborns, 9 newborns had sTSH value >20 mIU/l, who were recalled for confirmatory test, giving a recall rate of 0.4%. Out of 9 recalled newborns, 3 had persistently elevated sTSH >20 mIU/l making incidence of congenital hypothyroidism of 1:737 in our study.Conclusions: We found a higher incidence of 1:737 neonatal hypothyroidism in this region as compared to estimated national incidence. CH being preventable cause of mental retardation and other harmful effects on a growing newborn, neonatal screening programme for congenital hypothyroidism is highly recommended.


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