CAJ | 학술논문

目的：探讨肢体先天畸形的发生与围产期管理的关系。方法采用方便取样法对2012年1月-2013年5月至北京积水潭医院手外科住院治疗的156例肢体先天畸形的患儿进行问卷调查。结果本组156例患儿中，152例患儿母亲通过B超进行排畸筛查，其中149例（95.51%）的B超检查结果为正常，即检出率约为4.49%，漏诊率95.51%；仅有83例（53.2%）患儿的先天畸形在出生时由医生发现，产时诊断率较低；在有家族史的26例患儿中，有23例（88.46%）患儿家长不知道何为遗传咨询或遗传检查，有17例（65.38%）患儿家长认为就医过程中没有医务人员推荐其进行遗传咨询或检查，遗传咨询或遗传检查的知晓率及实施率较低。结论目前肢体先天畸形的产前检出率、产时诊断率、遗传咨询或遗传检查的知晓率及实施率较低，但是随着医学的进一步发展，仪器质量的提高，医务人员特别是一线医务人员相关意识的增强，肢体先天畸形的产前检出率、产时诊断率、遗传咨询或遗传检查的知晓率及实施率会得到提高。
목적：탐토지체선천기형적발생여위산기관리적관계。방법채용방편취양법대2012년1월-2013년5월지북경적수담의원수외과주원치료적156례지체선천기형적환인진행문권조사。결과본조156례환인중，152례환인모친통과B초진행배기사사，기중149례（95.51%）적B초검사결과위정상，즉검출솔약위4.49%，루진솔95.51%；부유83례（53.2%）환인적선천기형재출생시유의생발현，산시진단솔교저；재유가족사적26례환인중，유23례（88.46%）환인가장불지도하위유전자순혹유전검사，유17례（65.38%）환인가장인위취의과정중몰유의무인원추천기진행유전자순혹검사，유전자순혹유전검사적지효솔급실시솔교저。결론목전지체선천기형적산전검출솔、산시진단솔、유전자순혹유전검사적지효솔급실시솔교저，단시수착의학적진일보발전，의기질량적제고，의무인원특별시일선의무인원상관의식적증강，지체선천기형적산전검출솔、산시진단솔、유전자순혹유전검사적지효솔급실시솔회득도제고。
Objective To investigate the relationship of congenital limb malformations and perinatal management. Methods Totally 156 patients with congenital limb malformations hospitalized in Beijing Jishuitan Hospital Hand Surgery from January 2012 to June 2013 were investigated. Results In the 156 patients, 149 (95.51%) patients' B-ultrasound results are normal, the detection rate is about 4.49%;83 ( 53.2%) children's congenital malformations were found by the doctor at birth, the rate of intrapartum diagnosis is low; there are 26 patients with family histories, the parents of 23 (88.46%) children do not know genetic counseling or genetic examination, the parents of 17 (65.38%) children think that there is no medical procedure recommended by the medical staff or checking their genetic counseling, the rates of awareness and implementation of genetic counseling and genetic examination are low. Conclusion Currently the detection rate, the intrapartum diagnosis rate and the rates of awareness and implementation of genetic counseling and genetic examination are low, but with the further development of medicine, the improvement of instrument quality, especially the improvement of medical awareness with front-line medical staff, the detection rate, the intrapartum diagnosis rate and the rates of awareness and implementation of genetic counseling and genetic examination will be improved.