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| Analysis of screening results of neonatal genetic metabolic diseases by tandem mass-spectrometric technique in Guiyang area |
| Guiyang Maternal and Child Health Care Hospital, Guizhou Province, 550003 |
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Abstract To explore the preliminary screening situation of neonatal genetic metabolic diseases by tandem mass-spectrometric technique. Methods: The dry blood filter paper samples of 105,742 newborns in Guiyang area from November 16, 2015 to December 31, 2019 were collected, and tandem mass-spectrometric technique of amino acid and acylcarnitine profiles (11 kinds of amino acids, 30 kinds of acylcarnitine, free Carnitine, and succinylacetone) were performed to screen a variety of genetic metabolic diseases of these newborns. The positive rates of initial screening of the newborns during different periods and from different regions were statistically analyzed, and the characteristics of the newborns with positive results in initial screening were analyzed. Results: There were 1413 neonates with multiple positive genetic metabolic diseases screened by tandem mass-spectrometric technique, and the positive rate was 1.34%. A total of 14 neonates were diagnosed with genetic metabolic diseases, and the population prevalence was 1/7553. The screening positive rate of the neonates in early 2018 was 2.40%, which was relatively high in different years. In the neonates from different prefectures and municipia, the positive rate in western and northern of Guiyang were higher, while which in the eastern and southern of Guiyang were lower. Regression analysis showed that the preterm birth and the low birth weight of the neonates were the characteristic factors of the positive neonates in preliminary screening. Conclusion: There are certain prevalence of the neonatal multiple genetic metabolic diseases in neonates in Guiyang area. The positive rate of neonatal genetic metabolic diseases during the initial screening of these neonates born in different year and from different regions is different, and which of the premature infants or the low weight neonates are higher. Therefore, tandem mass-spectrometric technique should be strengthened to screen multiple genetic metabolic diseases of the neonates, so as to detect, diagnose, and treat these diseases as soon as possible.
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