scholarly journals Congenital Hypothyroidism: An Audit and Study of Different Cord Blood Screening TSH Values in a Tertiary Medical Centre in Malaysia

2015 ◽  
Vol 2015 ◽  
pp. 1-6
Author(s):  
Sze Lyn Jeanne Wong ◽  
Muhammad Yazid Jalaludin ◽  
Azriyanti Anuar Zaini ◽  
Nurshadia Samingan ◽  
Fatimah Harun

Mothers are often discharged within 24 hours in most Asian countries. Therefore, our screening programs for congenital hypothyroidism (CH) must consider the value of cord blood TSH. Our objectives were to compare the incidence of CH, positive predictive values, and recall rates using different cord blood TSH values. We also reviewed the results of the second-screening program for premature babies. 99.7% (n=25,757) of all newborns were screened from 1st January 2009 to 31st December 2013. Babies with cord blood TSH > 25 mIU/L or 20–25 mIU/L and FT4<20 pmol/L were recalled for a repeat venous TSH and FT4 on days 3–5 of life to confirm CH. Twenty-two babies were confirmed to have CH, an incidence of 1:1170. Five were premature. Eleven term babies had cord blood TSH>30 mIU/L and six had values 25.1–30 mIU/L. Lowering the recall cut-off value to 20 mIU/L would double the recall rate from 0.63% (n=163) to 1.3% (n=340) with no additional cases detected, whereas using 30 mIU/L would have missed 35% of cases. The incidence of CH was similar, 1:1515, when using either cut-off 20 mIU/L or cut-off 25 mIU/L but lower, 1:2380, when using 30 mIU/L. We recommend the screening cord blood TSH cut-off should be 25 mIU/L and screening for premature babies should be continued.

2017 ◽  
Vol 88 (3-4) ◽  
pp. 274-280 ◽  
Author(s):  
Débora Braslavsky ◽  
Maria Virginia Méndez ◽  
Laura Prieto ◽  
Ana Keselman ◽  
Rosa Enacan ◽  
...  

Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary deficiencies, and is more prevalent than previously thought. We aimed at developing a pilot neonatal screening program for CCH detection. Patients and Methods: A prospective 2-year pilot neonatal screening study based on simultaneous dried blood specimen TSH and thyroxine (T4) measurements was implemented in term newborns aged 2–7 days. Those with T4 ≤4.5 µg/dL (–2.3 SDS) and TSH <10 mIU/L were recalled (suspicious of CCH) and underwent clinical and biochemical assessment performed by expert pediatric endocrinologists. Results: A total of 67,719 newborns were screened. Primary CH was confirmed in 24 (1: 2,821). Forty-four newborns with potential CCH were recalled (recall rate 0.07%) at a mean age of 12.6 ± 4.8 days. In this group, permanent CCH was confirmed in 3 (1: 22,573), starting L-T4 treatment at a mean age of 12.3 ± 6.6 days; 14 boys showed T4-binding globulin deficiency (1: 4,837); 24 had transient hypothyroxinemia (21 non-thyroidal illness and 3 healthy); and 3 died before the confirmation stage. According to initial free T4 measurements, CCH patients had moderate hypothyroidism. Conclusions: Adding T4 to TSH measurements enabled the identification of CCH as a prevalent condition and contributed to improving the care of newborns with congenital hypopituitarism and recognizing other thyroidal disorders.


Author(s):  
Majid Valizadeh ◽  
Farzaneh Moezzi ◽  
Zohreh Khavassi ◽  
Mohammad Movahedinia ◽  
Seideh Mazloomzadeh ◽  
...  

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.


2020 ◽  
pp. 26-27
Author(s):  
Rohan Modi ◽  
Harsh Mod ◽  
Aabha Phalak ◽  
Rutvik Parikh ◽  
Vilas Kavad ◽  
...  

BACKGROUND:- Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation. Screening for congenital hypothyroidism can be helpful in preventing mental retardation among general population. Umbilical cord blood TSH (CBTSH) estimation has been universally accepted and is one of the most cost effective screening programs in the field of preventive medicine and public health. AIMS AND OBJECTIVES:- This study was aimed to find the effectiveness of cord blood TSH as a screening tool for congenital hypothyroidism. MATERIALS AND METHODS:- This hospital based cross sectional study was conducted at GCS Medical College Hospital & Research Centre, Ahmedabad, over a period of one year in 1687 neonates. All newborns delivered at the institute were subjected to cord blood TSH level estimation and a repeat Serum TSH estimation was done at or after 72 hours of life. Diagnosis of congenital hypothyroidism is confirmed postnatally by standard Serum TSH value cut offs as per age. Data collected and statistically analysed. RESULTS:- Out of 1687 neonates born during the study period, 1548 formed the study group. 805 (52%) were males and 743(48%) were females. The birth weight of babies ranged from 850 gms to 4300 gms. The value of CBTSH varied from 1.3mIU/L to 101.4mIU/L with mean CBTSH of 7.21mIU/L. 28(1.8%) babies had CBTSH levels >20mIU/L. Out of which four were later diagnosed to have congenital hypothyroidism. All four had CBTSH levels >20mIU/L. All other neonates with CBTSH levels less than 20mIU/L were found to have normal screening later postnatally. CONCLUSION:- The current study concludes that cord blood TSH is a sensitive marker to screen for congenital hypothyroidism in neonates. A cut off value of cord blood TSH >20mIU/ml can be used for screening purpose.


PEDIATRICS ◽  
1984 ◽  
Vol 73 (4) ◽  
pp. 507-508
Author(s):  
Juan N. Walterspiel ◽  
Joe C. Rutledge ◽  
Bryan L. Bartlett

A patient with homozygous sickle cell anemia is the youngest known to have died from acute splenic sequestration crisis. A cord blood screening program might have prevented this infant's death.


1974 ◽  
Vol 20 (6) ◽  
pp. 666-669 ◽  
Author(s):  
Beryl E Serjeant ◽  
Miriam Forbes ◽  
Leslie L Williams ◽  
Graham R Serjeant

Abstract A cord-blood screening program, designed primarily for detecting sickle cell disease, has been in operation for seven months (8000 samples) at a large maternity unit in Kingston, Jamaica. We describe techniques of cord-blood collection and electrophoretic investigation on both cellulose acetate and agar gel. These methods appear to give rapid, valid results at minimal expense and are well adapted to screening large populations.


2020 ◽  
Vol 6 (2) ◽  
pp. 24 ◽  
Author(s):  
Thomas Mookken

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.


Nutrients ◽  
2017 ◽  
Vol 9 (11) ◽  
pp. 1194 ◽  
Author(s):  
Ladan Mehran ◽  
Shahin Yarahmadi ◽  
Davood Khalili ◽  
Pantea Nazeri ◽  
Hossein Delshad ◽  
...  

1979 ◽  
Vol 25 (6) ◽  
pp. 933-938 ◽  
Author(s):  
W A Sadler ◽  
C P Lynskey

Abstract We describe a highly sensitive and precise radioimmunoassay for thyrotropin in dried blood spots on filter paper cards. In a screening program for congenital hypothyroidism, blood-spot thyrotropin concentrations are measured in infants whose blood-spot thyroxine concentrations are in the lower 10%, and this strategy has reduced the recall rate from 1.7% (thyroxine assay alone) to 0.17%. Thyrotropin assay samples consist of discs 4.5-mm in diameter, containing about 6 microL of blood, punched from blood spots. By appropriate attention to assay conditions, a mean least-detectable thyrotropin concentration equivalent to 2.5 milliunits/L plasma has been achieved. Concomitant measurement of thyrotropin by plasma and blood-spot assays in 91 subjects yielded a Spearman rank correlation coefficient of 0.9732. An analysis of variance of the distribution volume of thyrotropin in blood spots and a covariance analysis of factors affecting blood-spot thyroxine results are presented.


Author(s):  
A. Al-Madhani ◽  
Anil Pathare ◽  
Salam Alkindi

Background: Newborn cord blood screening identifies infants with underlying haemoglobinopathies before they develop the characteristic symptoms or sequelae. Aims: This study was performed to validate the interpretation high-performance chromatography (HPLC) along with complete blood count (CBC) results as a tool for universal neonatal screening of hemoglobin disorders in Oman. Methods: HPLC and CBC data on subjects who participated in the National Neonatal screening program at birth were obtained from archival records. The results recorded at birth were compared with a second study performed on the same subjects, after approval from the local medical research and ethics committee.Results: Only 290 subjects from amongst the original cohort of 3740 newborns could be recalled between April 2010 to March 2011, to repeat HPLC and CBC, as well as perform confirmatory DNA studies, wherever necessary. All these subjects had been documented to show an initial abnormal result. 31 cases who had no HbA at birth on HPLC were confirmed as either homozygous β-thalassaemia major (n=5 subjects) or homozygous sickle cell anemia (n=26 subjects) by appropriate DNA analysis. Additionally, amongst 151 subjects, 72 subjects were studied in the initial study by Hb Bart’s quantitation using aalpha thalassaemia short program at birth. In this cohort, 42 subjects with Hb Bart’s >1% at birth could be confirmed as having either deletional or non-deletional thalassaemia by GAP PCR studies. No case of HbH was detected in this cohort. Further, carrier status for structural hemoglobin variants (HbS, HbC, HbD, HbE) (n=67) and beta thalassaemia allele with low HbA at birth (n=29 out of 41) were confirmed by relevant molecular studies.Conclusions: The study validated the earlier observation by 100% concordance with results of CBC and HPLC. Presence of Hb Bart’s at birth does not always mean the presence of alpha thalassemia, as subjects with Hb Bart’s was below 1% by quantitation, were shown to be normal by molecular studies. Key Words: Neonatal, screening, HPLC validation, haemoglobinopathy, sickle cell disease, thalassaemia 


2009 ◽  
Vol 16 (3) ◽  
pp. 119-123 ◽  
Author(s):  
M Abduljabbar ◽  
A Al Shahri ◽  
A Afifi

Objective To assess the performance of the use of umbilical cord blood for screening of primary congenital hypothyroidism in the Saudi Aramco Medical Services Organization newborn thyroid screening programme. Methods Umbilical cord blood total thyroxin (CB-TT4) was measured. In samples with low T4 concentrations, an additional measurement of cord blood thyroid-stimulating hormone was made. Results A total of 96,015 newborn infants were screened in the period January 1990-December 2007. Twenty-six cases of primary congenital hypothyroidism, six cases of transient hypothyroidism and 13 cases of central hypothyroidism were detected. This method of screening resulted in 100% sensitivity and 98% specificity (95% CI 84–100, and 95% CI 98–98.2, respectively). However, there was a high mean recall rate of 1.9%. Conclusion The use of CB-TT4 is a valid screening strategy for primary congenital hypothyroidism. It meets the metabolic screening demands of early discharge policy and guarantees screening all newborns delivered in the hospital.


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