| purpose:Genetic metabolic diseases,mostly childhood,are progressively worsening,with irreversible damage to the nervous system,and even death.If early detection and timely treatment,many diseases can be effectively controlled.Using tandem mass spectrometry to screen neonatal genetic metabolic diseases,it can perform dozens of metabolites analysis on a sample within two minutes,that is,simultaneously detect dozens of genetic metabolic diseases and achieve “one test to detect multiple diseases”.Requirements:Through the understanding of the incidence of genetic metabolic diseases in Ningbo,the diagnosis and treatment of children in this area can be promptly diagnosed and treated to reduce the suffering of children and families.It can also provide an important reference for the next step in the screening work for the local population.method:Selecting from July 2014 to September 2017,tandem mass spectrometry technology was used to collect blood filter papers for newborn blood in heel from Ningbo,and tandem mass spectrometry was applied to 29 types of neonatal amino acid metabolism,organic acid metabolism and fatty acid oxidation metabolism.Initial screening of genetic metabolic diseases,suspected positive person recalled collection of urine,plasma for organic acid,amino acid and gene mutation analysis,combined with its clinical manifestations for diagnosis,and follow-up treatment of diagnosed children.result:(1)There were 146,581 cases of 29 screenings in 3 years,29 screenings accounted for 41.26% of births,29 screenings accounted for 41.42% of total screenings,and 28 were confirmed.The incidence rate was 0.191‰(1:5235).The number of screenings increased from 2339 cases(2014)to 11,712 cases(2015),44708 cases(2016),and 87,822 cases(2017),increasing year by year.Twenty-nine screenings accounted for the proportion of newborns born year after year: 2.66%(2014)? 13.26%(2015)? 51.52%(2016)?95.17%(2017).The total screening rate of the 29 screenings also increased year by year: 2.68%(2014)?13.31%(2015)? 51.69%(2016)? 95.36%(2017).There was no significant difference between male and female screening.Screening area was born in Ningbo City Women and Children Hospital in 2014 only,and in 2015,it expanded to Haicang District and Jiangbei District.Up to 2016,there were 29 screenings in all counties and cities in the city,and the number of people in Haishu District was still the largest.Until 2017,the coverage of 29 screenings in other counties and cities was more than 97% except Cixi City(84.72%)and Yuyao City(85.54%).(2)1251 cases were positive for screening,and 0.85% were positive for screening;1223 cases were false positive cases,and the overall specificity was 99.17%.The abnormal metabolism of amino acids,fatty acids,and organic acids was 99.50%,99.87%,and 99.79%,respectively.The sensitivity was 2.24%,of which the metabolic abnormalities of amino acids,fatty acids,and organic acids were 1.22%,5.94%,and2.58%,respectively.The highest predictive value of phenylketonuria and primary carnitine deficiency were11.94% and 10.96%,respectively.There were no false-negative cases.(3)The male positive screening rate was 0.85% for suspicious suspects,0.85% for female serial screenings;the suspect positive rate for serial screens was 2.05% for low birth weight infants,and 0.72%for normal birth weight infants for serial screenings.Suspected positive rate of screening was 0.55%;the number of suspicious positives for serial screening in preterm infants was 1.28%,and the suspicious positive rate for serial screening in term infants was 0.75%.(4)In 28 children diagnosed with genetic metabolic diseases,the total positive rate of screening confirmed was 1:5235(0.191 ‰),including 9 cases of amino acid metabolic disease,2 cases of 3 fatty acid metabolic diseases,and 2 cases of organic acid metabolic disease.Citrullinemia type II(Citlin deficiency)1case,phenylketonuria 8 cases,8 cases of primary carnitine deficiency,2 cases of middle-chain acylation coenzyme A dehydrogenase deficiency,short There were 2 cases of chain acyl-CoA dehydrogenase deficiency,6 cases of 3-methylcrotonyl-CoA carboxylase,and 1 case of methylmalonic acidemia.There were 22 males and 6 females.There were 2 low birth weight infants,25 normal birth weight infants and 1macrosomia.There were 4 premature infants and 24 full term infants.Follow-up was performed in 21 patients.Two patients had clinical symptoms before diagnosis.Five patients had clinical symptoms after follow-up.Among them,3-methylcrotyl CoA carboxylase deficiency had the highest incidence of clinical symptoms.in conclusion:(1)The number of three-year tandem mass spectrometry screenings has increased year by year;29screenings have increased the proportion of births from year to year;29 screenings have increased the total screening ratio year by year.There was no significant difference between male and female screening.The screening area continues to expand,and the coverage of 29 screenings in most counties and cities in 2017 is above 97%.(2)1251 cases were positive for screening,and 0.85% were positive for screening;1223 cases were false positive cases,and the overall specificity was 99.17%.The sensitivity was 2.24%.The positive predictive value of phenylketonuria and primary carnitine deficiency were the highest,which were 11.94%and 10.96%,respectively.There were no false-negative cases.(3)There was no difference in the prevalence of suspicious males and females,and the number of suspicious positive recalls among low-birth-weight infants was significantly greater than that of normal birth weight infants and macrosomia.Premature infants were significantly more likely to recall suspicious positives than term infants.(4)Of the 28 confirmed cases,the overall positive rate of screening was 1:5235(0.191‰).The highest incidence was phenylketonuria and primary carnitine deficiency.More boys than girls;normal birth weight children more than low birth weight children,large children.More full-term children than premature infants.The highest incidence of clinical symptoms of 3-methylcrotonyl-CoA carboxylase deficiency. |
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