目的 通过监测供精人工授精技术(artificial insemination by donor,AID)助孕后妊娠患者,了解其子代出生缺陷和遗传代谢病情况,为建立规范的监测子代出生缺陷的机制提供理论依据。方法 随访供精人工授精技术助孕后妊娠分娩的患者,收集其子代临床资料,部分新生儿采集足跟血制成滤纸干血斑标本,进行串联质谱分析,筛查遗传代谢病,可疑对象进行重复检测和专科咨询检查。结果 收集分析2007年—2016年通过AID出生的4 261例子代临床资料,360例新生儿采集足跟血进行 50种遗传代谢病检测。子代出生缺陷率1.24%(不包括230例轻度地方病地中海贫血症、24例G6PD缺乏症和两病共患5例),360例中未发现重度地中海贫血症、先天性甲状腺低下症、苯丙酮尿症等其他遗传代谢病。本中心建立宣传教育新生儿遗传代谢病筛查和转诊制度。结论 供精人工授精技术助孕后妊娠出生的子代出生缺陷和遗传代谢病发病率低,冻存精子进行供精人工授精助孕,是一种较安全获得健康子代的辅助生殖技术。

目的 研究并探讨产前优生筛查对出生缺陷的干预作用。方法 于2013年1月—2015年12月,选取69 183例孕产妇的临床资料进行回顾性研究,胎儿总数为69 262例,所有孕产妇在妊娠期均进行产前优生筛查,对产前筛查结果进行分析,统计胎儿异常例数,采取相应的产前干预措施,并对未检出胎儿异常的孕产妇进行跟踪随访,观察其妊娠结局,统计出生缺陷儿娩出例数及产前筛查漏检率。结果 69 262例胎儿中,共有7 470例胎儿检出异常,其胎儿异常率为10.79%,其中2013年检出1 910例,2014年检出2 569例,2015年检出2 991例,其检出率分别为9.15%、10.70%、12.17%,最终经产前诊断检查确定为出生缺陷的胎儿共98例,均采用引产术以终止妊娠。对未检出异常的61 792例胎儿进行跟踪随访后发现,其中17例胎儿在孕期流产,有9例出生缺陷儿娩出,其出生缺陷发生率为0.1 457‰,其产前筛查漏检率为0.1 456‰。结论 在产前对孕产妇进行产前优生筛查,并根据产前筛查结果进行相应的干预,可有效检出异常胎儿,及时终止异常妊娠,有利于减少缺陷儿的出生,促进优生优育。

Objective To study and discuss intervention effects of prenatal eugenic screening in birth defects. Methods From January 2013 to December 2015, we did retrospective study on the clinical data of 69 183 cases of pregnant in which there were 69 262 fetal cases, made prenatal eugenic screening for all pregnant women. Prenatal screening results were analyzed, fetal abnormal cases were calculated. We took appropriate prenatal intervention measures, and followed up pregnant women who had no detection of fetal abnormal. We observed the pregnancy outcome, and calculated the defected childbirth cases and prenatal screening miss rates. Results 69 262 cases of fetus, a total of 7 470 cases of fetal abnormalities were detected. The fetal abnormality rate was 10.79%, of which 1 910 cases were in 2013, 2 569 cases in 2014, 2 991 cases in 2015. The detection rates respectively were 9.15%, 10.70%, 12.17%. 98 cases were determined as fetal birth defects by the final prenatal diagnosis examination, in which all adopted induction of labor to terminate pregnancy. 61 792 cases who were not detected anomalies were followed up in which 17 cases of fetus were found and had abortion during pregnancy, and 9 cases of fetal birth defects were delivered . The incidence of birth defects was 0.1 457 ‰, the prenatal screening miss rate was 0.1 456 ‰. Conclusion Pregnant women were made prenatal eugenic screening and according to the result of prenatal screening we took corresponding intervention, which is effective detect abnormal fetus. We may have timely termination of abnormal pregnancy,and reduce birth defects. It may promote human eugenics.

目的 对出生缺陷知信行健康教育模式效果进行策略分析与探讨,为进一步完善围产期保健服务及健康教育工作提供合理化建议。方法 采用《孕期妇女出生缺陷基本知识知晓率专题测评问卷》并结合实际情况设定有关信念、行为方面的7个问题,对2011年1月—2013年6月期间在中心孕妇学校参加健康教育活动课堂的孕妇进行调查,并应用决策树模型对中心现有的出生缺陷知信行健康教育模式效果进行探讨。结果 预防出生缺陷知识方面,对初高中及中专文化程度的孕期妇女加强出生缺陷预防知识健康教育的预期收益合计达到51.2%,可作为重点目标人群;预防出生缺陷信念方面,主要决定因素是户籍类型和年龄,加大对本地户籍及25岁以上流动妇女人群的健康教育,促进孕期妇女树立预防出生缺陷信念的预期收益累计达95.9%;预防出生缺陷行为方面,主要影响因素是产检医生的嘱咐,受到嘱咐的孕期妇女预期收益为62.3%。结论 为了达到出生缺陷防治目标与健康教育整体效果的提高,应将预防出生缺陷的健康教育工作重点放在初高中及中专文化程度人群,本地户籍孕期妇女和25岁以上流动性孕期妇女又是需要树立预防出生缺陷信念的重点人群,强化产检医生的嘱托义务是提高孕期妇女出生缺陷知信行健康教育模式效果的有力保证。

Objective To identify factors related to the knowledge, attitude and practice KAP of birth defects prevention among pregnant women, and provide reasonable suggestions to improve perinatal health services and health education. Methods Using cluster sampling method, 5500 participants from pregnant women school were enrolled. Information on “awareness of basic knowledge of birth defects” and 7 questions about attitudes and practice to participant actual situation was gathered through personal interviews using a structured questionnaire. The related factors were analyzed by classification tree model of SPSS 19.0. Results As to birth defects related knowledge, prospective return was more than 50% in the pregnant women with junior, senior high school and technical secondary school education level. As to birth defects prevention faith, the main determinant was census register types; prospective return of pregnant women who were local permanent residents and floating population aged ≥25 years was 95.9%. The main influencing factor of practice was prenatal doctor's education; prospected return was 62.3% after strengthening the health education of prenatal doctor. Conclusion In order to improve birth defects education effect, pregnant women who have junior, senior high school and technical secondary school education level and are local permanent residents or floating population aged ≥25 years should be key targeted population. Prenatal doctor's health education will be a powerful guarantee.