Tandem mass spectrometry screening of 565 182 newborns for inherited metabolic diseases in Hunan province
10.3760/cma.j.issn.2095-428X.2019.20.006
- VernacularTitle: 湖南省565 182例串联质谱新生儿疾病筛查分析
- Author:
Huiming YAN
1
;
Zhengjun JIA
1
;
Jing LIU
1
;
Yanghui ZHANG
1
;
Hua TANG
1
;
Hui XI
1
;
Jing CHEN
1
;
Junqun FANG
2
;
Donghua XIE
3
;
Hua WANG
1
Author Information
1. Department of Genetic Medicine, the Maternal and Child Health Hospital of Hunan Province, Changsha 410008, China
2. Department of Health Care, the Maternal and Child Health Hospital of Hunan Province, Changsha 410008, China
3. Department of Information, the Maternal and Child Health Hospital of Hunan Province, Changsha 410008, China
- Publication Type:Journal Article
- Keywords:
Tandem mass spectrometry;
Newborn screening;
Inherited metabolic disease;
Outcomes
- From:
Chinese Journal of Applied Clinical Pediatrics
2019;34(20):1541-1545
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the prevalence, mutation characteristics and clinical outcomes of inherited metabolic diseases(IMD) by using tandem mass spectrometry screening.
Methods:In Hunan province, 565 182 newborns who underwent tandem mass spectrometry (MS/MS) screening for IMDs were studied, including fatty acid oxidation disorders (FAODs), amino acid disorders (AAs), and organic acidemias (OAs) between March 2013 and September 2017.For the patients with positive results, a recall screening test was performed, and the results were further confirmed by specific biochemical and genetic analysis.For all the patients with IMD, guideline-directed medical treatment was administrated, and the follow-up outcomes was evaluated.
Results:A total of 107 newborns were diagnosed with IMDs, with an overall prevalence of 1∶5 282, including 65 newborns with FAODs (1∶ 8 695), 29 newborns with AAs (1∶19 489), and 13 newborns with OAs (1∶43 476). The primary carnitine deficiency(PCD)(44 cases), hyperphenylalaninemia (HPA)(17 cases), short-chain acyl-CoA dehydrogenase deficiency(SCADD)(12 cases), citrine deficiency(NICCD)(6 cases) were the 4 most common IMDs in Hunan province.The hotspot mutations in SLC22A5 gene of PCD were c. 51C>G(25.3%), c.1400C>G(23.0%), and c. 760C>T(13.8%); in PAH gene of HPA were c. 728G>A (22.2%) and c. 721C>T(14.8%); in ACADS gene of SCADD was c. 1031A>G(38.9%); and in SLC25A13 gene of NICCD was c. 851_854delGTAT (50.0%), respectively.The remaining IMDs were rare, and the hotspot mutations were unclear right now.During a mean follow-up of (26.1±5.6) months, 7 patients died, 4 patients suffered an intelligent disability, whereas the remaining 96 subjects had normal physical and intelligent development.
Conclusions:The overall prevalence of IMDs is not fairly low in Hunan province.Newborn screening and early appropriate management can significantly improve the outcomes of these patients.
