Congenital hypothyroidism screening in term neonates using umbilical cord blood TSH values

Abstract

Congenital hypothyroidism remains one of the most common preventable causes of mental retardation among children. Screening for congenital hypothyroidism remains one of the most cost-effective tools to prevent mental retardation in the population. Umbilical cord blood thyroid-stimulating hormone (TSH) levels remain an attractive and a practical step for screening for congenital hypothyroidism. The aims of this study were as follows: (1) to find normative values of cord blood TSH for the study group and (2) to use cord blood TSH levels as a marker for screening of congenital hypothyroidism. Cord blood of 1824 neonates who were of term gestation, weighed >2.5 kg at birth, whose mothers were off thyroid medication were a part of the study group. Umbilical cord blood was collected at the time of delivery and TSH was estimated. All babies who had a cord blood TSH value of >20 mIU/L were called bay on day 7 of life for a full thyroid profile. Cord blood samples of 1824 neonates were tested for TSH. Male–female ratio was 979:845 = 1.15:1. The birth weights ranged between 2.5 and 4.5 kg with an average birth weight of 2.811 kg. Mean (standard deviation) TSH value was 7.725 (8.99). TSH values ranged between 1.2 and 100 mIU/ml. TSH values corresponding to the 3rd, 10th, 25th, 50th, 90th, 95th, and 97th percentile were 2.32, 4.05, 5.67, 7.5, 12, 20.63, and 30.88, respectively. Out of the 88 babies recalled for repeat testing, 80 babies only turned up; eventually one turned out to be hypothyroid on repeat testing. The incidence of congenital hypothyroidism in our study was 1 in 1824. To conclude, we can safely use a cutoff of cord blood TSH value of >20 mIU/L for the purpose of screening for congenital hypothyroidism. For logistic angles, a higher cutoff of >30 mIU/L can be used. Large population-based studies are required to establish normative values for cord blood TSH in our country.

Establishing Umbilical Cord Thyroid-stimulating Hormone in Neonates at a Tertiary Care Teaching Hospital for Screening Congenital Hypothyroidism

“…Detailed antenatal history, medical history, thyroid status, and demographic details were recorded on a predesigned proforma. Some cases were excluded due to incomplete data (7), babies of a mother with a thyroid disorder (10) thus further analysis was carried out on 1,357 neonates.…”

“…Had we used a cutoff of 30 mIU/L our recall rate would have fallen to 2.5%, and on further increasing the cutoff values to 40 mIU/L the recall rate has fallen to 0.3% which was comparable to Ravi Bhatia study 3 and 2%, respectively. 10 Both the low CH incidence found, and the high proportion of severely hypothyroid babies identified led to the hypothesis that 20 mIU/L TSH could be a relatively high cutoff for the detection of babies with moderate hypothyroidism. Our figures have shown a comparable trend with the normative data for cord blood values as reported by various workers across the globe.…”

Hipotireoidismo Congênito: uma revisão sistemática sobre sua incidência nos últimos 5 anos

“…Provavelmente, isso é consequência da adesão populacional aos programas de triagem neonatal e a redução dos cortes do TSH para detecção dos casos mais leves e não um aumento real da incidência do distúrbio 47,48 . No estudo Bhatia et al 26 , após a repetição do exame em indivíduos com TSH entre 1,2 e 100 Mil/l, foi concluído que a avaliação do TSH no sangue do cordão > 20 mIU/L é seguro para triagem do HC.…”

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead

“…However, obtaining a result within four days seems feasible (Figure 3), which would mean it can be used within the timeframe of current NBS if sampling is performed within 124 h after birth. To make NBS even faster in the future, the use of umbilical cord blood collected directly after birth has been suggested [44,45], necessitating additional sampling in the Dutch NBS program. NGS, especially WES/WGS, will provide large amounts of data that will need to be analyzed and interpreted correctly.…”