江门市新生儿G6PD筛查结果回顾性分析

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Abstract Objective To investigate the incidence of G6PD deficiency in newborns in Jiangmen City,and to analyze the reliability of fluorescence quantitative method for screening G6PD deficiency.Methods Fluorescent quantitative screening of 73183 newborns born from January 2017 to September 2018 for G6PD deficiency was carried out.The patients who were positive for fluorescence quantitative screening were recalled and re-diagnosed by enzyme or gene detection,and the three diagnostic results were compared.Results A total of 73 183 newborns(38 240 males and 34 943 females)were screened,and 3027 cases(2632 males and 395 females)were positive.The overall screening positive rate was 4.14%(3027/73 183).The positive rates of male and female screening were 6.88%(2632/38 240)and 1.13%(395/34943),respectively.The coincidence rate between fluorescence screening and enzymatic diagnosis was 96.57%(367/380),in which the coincident rates of male and female were 98.56%(343/348)and 75.00%(24/32)respectively.The coincidence rate between fluorescence quantitative method and gene detection was 92.98% (212/228).The coincident rates of male and female were 96.23%(153/159)and 85.51%(59/69),respectively.The coincidence rate of gene detection and enzyme activity was 89.22%(149/167),and the coincidence rate of male and female was 100.00%(112/112)and 67.27%(37/55),respectively.Conclusion Our city is a high incidence area of G6PD deficiency.At present,the fluorescence quantitative screening method can screen most male patients and female homozygotes,but the sensitivity to female heterozygotes is not high.Enzyme activity and gene detection should be carried out at the same time for suspicious children with positive screening and highly suspected clinically.

Key words： Glucose-6-phosphate dehydrogenase deficiency Newborn screening Incidence Coincidence rate

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	Articles by authors
	YANG Ying-song
	YANG Mei
	ZHONG Zhi-lai
	LI Zhi-ming
	LIU Ying-yan
	LI Ya-zhen
	FENG Jian-jiang
	TANG Jia

Cite this article:

YANG Ying-song,YANG Mei,ZHONG Zhi-lai, et al. Retrospective analysis of G6PD screening results in newborns in Jiangmen City[J]. 中国当代医药, 2019, 26(16): 138-141.

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http://dangdaiyiyao.com/EN/ OR http://dangdaiyiyao.com/EN/Y2019/V26/I16/138

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