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目的:探讨导致患儿先天畸形的原因、预防措施及临床治疗疗效。方法:对2010年12月-2012年10月我院收治的103例患儿的临床资料进行回顾性分析,患儿进行细胞遗传学分析,并采用统一问卷对患儿父母进行调查。结果:患儿畸形种类包括骨骼系统、神经系统、呼吸系统、消化系统、生殖泌尿系统、心血管系统、唇腭裂及附耳;细胞遗传学分析发现28.16%患儿存在遗传缺陷;45.15%的孕妇在孕早期有射线、化学物质、重金属、药物等一种或多种接触史及吸烟、酗酒不良习惯,6例先天畸形家族史,21例为35岁以上孕妇。结论:先天畸形与遗传及环境因素以及孕妇孕期行为有关,加强孕期健康教育及产前检查,对预防先天畸形具有积极意义。
Objective: To explore the causes of congenital malformations in children, preventive measures and clinical curative effect. Methods: The clinical data of 103 children admitted to our hospital from December 2010 to October 2012 were analyzed retrospectively. The children were analyzed by cytogenetics and the parents were investigated by the unified questionnaire. Results: The deformities in children included skeletal system, nervous system, respiratory system, digestive system, genitourinary system, cardiovascular system, cleft lip and palate and appendage. Cytogenetic analysis showed that 28.16% of children had genetic defects and 45.15% In the first trimester of pregnancy, there is one or more exposure history of radiation, chemical substances, heavy metals and drugs, bad habits of smoking and drinking, 6 cases of family history of congenital malformation, and 21 cases of pregnant women over 35 years of age. Conclusion: Congenital malformations are related to genetic and environmental factors as well as pregnant women ’s behavior during pregnancy. Strengthening health education and antenatal examination during pregnancy has positive significance in preventing congenital malformations.