Evaluation of the results of the newborn metabolic and endocrine disease screening program in Sivas province for the years 2011-2021

Author:

AKOVA İrem1,KILIÇ Esma2,EKİCİ KOŞAROĞLU Nagehan2

Affiliation:

1. SİVAS CUMHURİYET ÜNİVERSİTESİ

2. İbn-i Sina Toplum Sağlığı Merkezi

Abstract

Objective: In this study, it was aimed to evaluate the results of the newborn metabolic and endocrine disease screening program, which was carried out in the province of Sivas between 2011-2021. Methods: In this cross-sectional study, gender, birth weight, date of birth and sampling date of 84044 newborns whose heel blood was taken between 2011-2021 within the scope of Neonatal Screening Program in Sivas were reached via Neonatal Screening Program Web Application. The number and rates of newborns diagnosed with phenylketonuria, congenital hypothyroidism, biotinidase deficiency, cystic fibrosis and congenital adrenal hyperplasia by years were determined, and disease incidences were calculated. Results: The lowest and highest incidences of the screened diseases were 1:1011- 1:233 for congenital hypothyroidism, 1:8375- 1:657 for phenylketonuria, 1:6815- 1:1861 for biotinidase deficiency, 1:7902-1:3614 for cystic fibrosis, and 1:6815- 1:3222 for congenital adrenal hyperplasia respectively. The incidence of congenital hypothyroidism was higher than the incidence of other diseases screened for. The second disease with the highest incidence was phenylketonuria. There was no significant difference by gender for the five diseases screened. Birth weights of those diagnosed with congenital hypothyroidism (p=0.002) and congenital adrenal hyperplasia (p=0.039) were lower. Conclusion: It was found that the incidences of congenital hypothyroidism and phenylketonuria among the diseases screened were higher. Those diagnosed with congenital hypothyroidism and congenital adrenal hyperplasia had lower birth weights. It may be recommended to explain to families the importance of screening in these diseases, which are preventable or treatable diseases with early diagnosis and intervention, and to include other similar diseases in the screening program.

Publisher

Turkish Journal of Public Health

Subject

General Medicine

Reference40 articles.

1. Zeybek Ç. Fenilketonüri tarama programı. Sağlam Çocuk İzlemi Sempozyum Dizisi. 2003;35:65–71.

2. T.C. Sağlık Bakanlığı Halk Sağlığı Genel Müdürlüğü. Yenidoğan Metabolik ve Endokrin Hastalık Tarama Programı (NTP). Published 2021 [online]. Available at: https://hsgm.saglik.gov.tr/tr/cocukergen-tp-liste/yenidogan_tarama_programi.html. Accessed Dec 30, 2021.

3. Nicholls SG, Wilson BJ, Etchegary H et al. Benefits and burdens of newborn screening: public understanding and decision-making. Per Med. 2014;11(6):593–607. doi: 10.2217/pme.14.46

4. Tluczek A, Orland KM, Nick SW, Brown RL. Newborn Screening. J Perinat Neonatal Nurs. 2009;23(4):326–34. doi: 10.1097/JPN.0b013e3181a1bc1f

5. de Monestrol I, Brucefors AB, Sjöberg B, Hjelte L. Parental support for newborn screening for cystic fibrosis. Acta Paediatr. 2011;100(2):209–15. doi: 10.1111/j.1651-2227.2010.02031.x

Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3