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目的回顾对新生儿出生缺陷的监测与遗传性疾病的筛查。方法选择2012年1月~2014年6月我校3所附属医院有缺陷的新生儿130例为观察组,同期的130例健康儿为对照组。通过检索资料了解观察组的缺陷类型及构成比;对两组的第一胎、孕母年龄、父亲吸烟、出生体重、孕期感冒、妊娠期合并症、孕期发热、孕期服用抗生素、孕期接触有害物质以及家族史做对比分析。统计同期我校3所附属医院1 000例新生儿的遗传代谢性病(inherited metabolic disease,IMD)筛查情况。结果新生儿出生缺陷类型多见为先天性心脏病、腭(唇)裂和多指,分别占31.53%、16.92%以及13.08%;孕母年龄、父亲吸烟、出生体重、孕期感冒、孕期发热以及孕期接触有害物质是出生缺陷的危险因素。对新生儿的IMD筛查结果为血液检查阳性21例,确诊为IMD有4例,分别为高乳酸血症,酪氨酸血症,中链酰基辅酶A脱氧酶缺乏,甲基丙二酸血症各1例;患儿主要症状为纳差、反应差、呼吸困难、皮肤黄染。结论新生儿出生缺陷多为先天性心脏病、腭(唇)裂和多指。加强产前检查与咨询,做好怀孕期间的保健,可避免新生儿出生缺陷的某些因素。IMD的症状并不典型,应加强对新生儿的筛查。
Objective To review the monitoring of neonatal birth defects and the screening of genetic diseases. Methods From January 2012 to June 2014, 130 cases of defective neonates in 3 affiliated hospitals of our school were selected as observation group and 130 healthy children as control group. Observe the defect type and composition ratio of the observation group by searching the data; The first and second gestational age of the two groups, father smoking, birth weight, pregnancy flu, pregnancy complications, fever during pregnancy, antibiotics during pregnancy, exposure to harmful substances during pregnancy As well as family history do comparative analysis. Statistics of 1 000 newborns with inherited metabolic disease (IMD) screening in 3 affiliated hospitals of our school during the same period. Results The incidence of neonatal birth defects was more common in congenital heart disease, cleft lip and multiple fingers, accounting for 31.53%, 16.92% and 13.08%, respectively; maternal age, smoking in father, birth weight, flu during pregnancy, fever during gestation and Exposure to harmful substances during pregnancy is a risk factor for birth defects. IMD screening of newborns in 21 cases of positive blood tests, diagnosed as IMD in 4 cases, respectively, lactic acidosis, tyrosinemia, medium chain acyl-CoA dehydrogenase deficiency, methylmalonic acid blood 1 case of disease; children with the main symptoms of anorexia, poor response, difficulty breathing, skin yellow dye. Conclusions Most neonatal birth defects are congenital heart disease, cleft lip and multiple fingers. Strengthen prenatal care and counseling, good care during pregnancy, and avoidable birth defects of some newborns. The symptoms of IMD are not typical and newborn screening should be strengthened.