Tuli Gerdi, Munarin Jessica, Topalli Kristela, Pavanello Enza, de Sanctis Luisa
Department of Pediatric Endocrinology, Regina Margherita Children's Hospital, Turin, Italy.
Postgraduate Program in Biomedical Sciences and Oncology, Department of Health and Pediatric Sciences, University of Turin, Turin, Italy.
Thyroid. 2023 Apr;33(4):440-448. doi: 10.1089/thy.2022.0495. Epub 2023 Mar 17.
Premature infants are at higher risk of developing congenital hypothyroidism (CH) but the neonatal screening strategy for this population is still debatable. The purpose of this retrospective study is to describe the results of a screening program for CH in a preterm infant cohort. All preterm newborns who underwent neonatal screening in the Italian region of Piedmont in the period January 2019-December 2021, were included in this retrospective cohort study. The first thyrotropin (TSH) measurement was performed at 72 hours, whereas the second at 15 days of life. Infants with TSH >20 mUI/L at first detection and >6 mUI/L at second were recalled for a full evaluation of thyroid function. During the study period, 5930 preterm newborns were screened. Based on birthweight (BW), the mean TSH was 2.08 ± 0.15 for BW <1000 g, 2.01 ± 0.02 for BW 1001-1500 g, 2.28 ± 0.03 for BW 1501-2499 g, and 2.41 ± 0.03 mUI/L in normal-weight newborns ( < 0.005) at the first detection, with a significant difference observed at the second measurement ( < 0.005). Based on gestational age, the mean TSH at first detection was 1.71 ± 0.09 mUI/L for extremely preterm babies and 1.87 ± 0.06, 1.94 ± 0.05, and 2.42 ± 0.02 mUI/L for very preterm, moderately, and late preterm infants < 0.005), respectively. Significant between-group differences of TSH measurements were also at the second and third detections ( < 0.005 and = 0.01). The 99% reference range in this cohort overlapped with the recommended TSH cutoffs for screening recall (8 mUI/L for first detection and 6 mUI/L for second detection). CH incidence was 1:156. Of the 38 patients diagnosed with CH, a eutopic gland was present in 30 (87.9%), with CH transient in 29 (76.8%). We observed no significant difference in the recall rate between preterm and at term infants screened in this study. Our current screening strategy therefore appears effective in avoiding misdiagnosis. CH screening approaches vary among countries. Development and testing of a uniform multinational screening strategy is needed.
早产儿患先天性甲状腺功能减退症（CH）的风险更高，但针对这一人群的新生儿筛查策略仍存在争议。这项回顾性研究的目的是描述一个早产儿队列中CH筛查项目的结果。2019年1月至2021年12月期间在意大利皮埃蒙特地区接受新生儿筛查的所有早产新生儿都被纳入了这项回顾性队列研究。第一次促甲状腺激素（TSH）测量在出生72小时时进行，第二次在出生15天时进行。首次检测时TSH>20 mUI/L且第二次检测时>6 mUI/L的婴儿被召回进行甲状腺功能的全面评估。在研究期间，共筛查了5930名早产新生儿。根据出生体重（BW），出生体重<1000g的新生儿首次检测时TSH的平均值为2.08±0.15，出生体重1001 - 1500g的为2.01±0.02，出生体重1501 - 2499g的为2.28±0.03，正常体重新生儿（<0.005）为2.41±0.03 mUI/L，第二次测量时观察到显著差异（<0.005）。根据胎龄，极早产儿首次检测时TSH的平均值为1.71±0.09 mUI/L，极早早产儿、中度早产和晚期早产婴儿分别为1.87±0.06、1.94±0.05和2.42±0.02 mUI/L（<0.005）。TSH测量在第二次和第三次检测时组间也存在显著差异（<0.005和=0.01）。该队列中99%的参考范围与筛查召回推荐的TSH临界值（首次检测为8 mUI/L，第二次检测为6 mUI/L）重叠。CH发病率为1:156。在38例被诊断为CH的患者中，30例（87.9%）甲状腺腺体位置正常，其中29例（76.8%）为暂时性CH。在本研究中，我们观察到早产和足月婴儿的召回率没有显著差异。因此，我们目前的筛查策略似乎有效地避免了误诊。各国的CH筛查方法各不相同。需要制定和测试统一的跨国筛查策略。
