新生儿出生缺陷监测与遗传性疾病的筛查研究

Monitoring of neonatal birth defects and screening of hereditary diseases

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1000例新生儿的遗传代谢性病（inheritedmetabolicdisease，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 retrospectively analyze monitoringof neonatal birth defects and screening of hereditary diseases. Methods A total of 130 neonates with birth defects were selected from three Affiliated Hospitals of Luohe Medical College from January 2012 to June 2014 as observation group, 130 healthy children during the same period were selected as control group. The types and proportions of birth defects in observation group were analyzed by data retrieval; the first child, maternal age, paternal smoking, birth weight, cold during pregnancy, pregnancy complications, fever during pregnancy, taking antibiotics during pregnancy, exposure to harmful substances during pregnancy, and family history in the two groups were compared and analyzed. The screening of inherited metabolic diseases （ IMD ） among 1 000 neonates from three hospitals were analyzed statistically. Results The common types of neonatal birth defects included congenital heart disease, cleft lip and palate, and polydactylism, accounting for 31.53%, 16. 92%, and 13. 08%, respectively; maternal age, paternal smoking, birth weight, cold during pregnancy, fever during pregnancy, and exposure to harmful substances during pregnancy were risk factors of birth defects. The screening results of neonates showed that blood test of 21 neonates was positive, then four neonates were diagnosed as IMD, including hyperlactacidemia （one neonate）, tyrosinemia （one neonate）, medium-chain aeyl-coenzyme A dehydrogenase deficiency （one neonate）, and methylmalonic acidemia （one neonate） ; the main symptoms were anorexia, poor response, breathing difficulties, and yellowish skin. Coneluslon Most neonatal birth defects are congenital heart disease, cleft lip and palate, and polydaetylism. Strengthening prenatal examination and counseling and health care during pregnancy can avoid certain factors of neonatal birth defects. The symptoms of IMD are not typical, neonatal screening should be strengthened.