The Screening Of Birth Defects And The Study Of Inborn Errors Of Metabolism

Objective:when realizing the incidence, type, composition ration, and influencing fa ctors of birth defects in hospital's newborn, it was possible to analyze related factor s of birth defects, and then provide a reliable basis for early intervention of the ne onatal birth defects. To understand of IEM's incidence in the newborns of Beijing a rea, representing the proportion of birth defects, clinical manifestations, screening res ults, with a view to help the clinical pediatrician to find of inborn errors of metabo lism promptly and early, treated the children of crisis period promptly. Want to be able to provide data for enlarging neonatal screening for our country.Methods:The subjects were the newborns during January 2009 to December 2009 in our hospital, including premature children ICU, full-term children ICU, and peri-t erm ICU.According to《China's Birth Defects Monitoring Program》,using the defini tion and diagnostic criteria of 23 categories of birth defects in the《China's birth de fects Workbook》to monitor. According to the references and preset results, selecting the related factors of birth defects to designed the unified questionnaire. At the sa me time, carrying out health check-up and records for research object, and verifying their diagnosis, when all hospitalized patient cases were inconsistent with the inves tigation, it is necessary to re-verify and correct. I was responsible for above work. We selected birth defects infants diagnosed and treated in the Newborn Department of our hospital from January 2009 to December 2009, and selected 900 cases witho ut birth defects to compare with in the same period of hospitalization. The match c onditions were:the gender of the newborns and the season of birthing were identic al. We analyzed 17 factors with the method of single-factor analysis:gender, gestati onal age, birth weight, gravidity, multiple births, family history, test tube baby, the child-bearing age of mother, past medical history, mother abnormal childbearing hist ory, fever, cold, oral antibiotic, whether contact detriment, negative event in duratio n of pregnancy, smoking of father and so on. At last, we put the factors into a log istic regression model to go on multivariate analysis, and selected the effecting fact or with stepwise regression methods by the standard test set (α=0.05). We collected all hospitalized neonates blood to screening of IEM. The MS-MS analysis was carr ied on by liquid chromatography-tandem mass spectrometry 3200 instrument, and an alysis high-risk newborns urine using gas chromatograph mass spectrometer (GC-M S).Results:We had discovered 733 birth defects newborns in hospital newborns of 20 09. The study found that the common types of birth defects were congenital heart disease, digestive tract malformation and limbs malformation. The occurrence rate of birth defects in hospital newborns was 13%. After a single factor analysis of the 1 7 related factors, it showed that there were 12 factors having a significant differenc e, which were gestational age(χ2=6.259 P=0.012), birth weight(χ2=49.479 P<0.000 1), gravidity(χ2=5.162 P=0.023), the child-bearing age of mother(χ2=1.591 P<0.00 01), mother abnormal childbearing history(χ2=20.403 P<0.0001), pregnancy complica tions(χ2=5.061 P=0.024), fever(χ2=8.413 P=0.004), cold(χ2=7.052 P=0.008), oral an tibiotic(χ2=6.020 P=0.014), whether contact detriment(χ2=8.929 P=0.003), family his tory(χ2=3.958 P=0.047), smoking of father(χ2=37.722 P<0.0001). These 12 factors were analyzed with the method of multi-regression analysis. The result manifested t hat gestational age, low birth weight, the child-bearing age of mother, mother abnor mal childbearing history, fever, cold, whether contact detriment, smoking of father were high risk factors for birth defects.There were 5400 cases carried on genetic metabolic screening in our hospi tal of 2009, between which the positive results were 104 cases and the final diagno sed were 12 cases including 1 case of methylmalonic academia,1 case of citrulline mia II,3 cases of lacticemia,3 cases of tyrosinemia,3 cases of medium-chain acy 1-CoA dehydrogenase deficiency(MCAD deficiency),1 case of short-chain acyl-CoA dehydrogenase deficiency(SCAD deficiency). The positive rate of screening was 1:46 6. The results showed that:the concentration of acetyl-carnitine and propionyl-carniti ne increased obviously in child who with methylmalonic academia. the concentration of citrulline,tyrosine and methionine stepped up obviously in child who with tyr osinemia. the concentration of butyryl- novain,octanoyl- novain and decanoyl-novai n promoted in child who with MCAD deficiency, the concentration of acetyl-carnitin e,propionyl-carnitine,malonyl-carnitine and glutaryl-carnitine stepped up in child who with SCAD deficiency, the concentration of multi-amino acids stepped up in c hild who with lacticemia, the concentration of citrulin and tyrosine stepped up in ch ild who with citrullinemiaⅡ. Conclusion:Strengthen prenatal counseling and perinatal health; discover abnormal early, take measures to reduce the incidence of children with birth defects. Vigilanc e neonatal hereditary metabolic disease, strengthen the promotion of newborn screeni ng; pediatrician should be judged screening results synthetically. Make clinical diagn osis promptly and inchoately, for children with genetic metabolic disease crisis perio d to give symptomatic treatment and enable them to be further assessed and special treatment.