目的 了解新生儿先天性心脏病的患病情况,为制定和采取干预措施提供依据。方法 对2015年10月—2016年9月分娩的5 769名新生儿进行心脏彩超检查,根据筛查结果进行统计分析。结果 共筛查出182例新生儿先天性心脏病,患病率3.15%,先天性心脏病新生儿中女婴比例较高,差异边缘显著,早产儿比例较高,差异有统计学意义,产母年龄和正常组分布相近。先天性心脏病类型中室间隔缺损和房间隔缺损的构成比分别排第一位(48.90%)和第二位(38.46%),严重先天性心脏病仅占5.43%。结论 新生儿先心病的发病率较高,采用心脏彩超筛查可尽早发现先心病患儿,同时需做好先心病患儿的随访工作,及时进行干预。

Objective To investigate the prevalence of neonatal congenital heart diseases (CHD) and providing basis for integrating efficient interventions. Methods The color Doppler echocardiography screening were applied to 5 769 newborns from Oct 2015 to Sep 2016, and the data was collected and analyzed. Results 182 cases of neonatal CHD were detected, and the prevalence rate of neonatal CHD was 3.15%. The proportion of girls and premature infants in the newborns with CHD was significantly higher than normal newborns, but the age distribution of their mothers was similar. In the 182 CHD cases, ventricular septal defect(48.90%) and atrial septal defect(38.46%) accounted for the most, while the constituent ratio of severe CHD was only 5.43%. Conclusion The prevalence of neonatal CHD was relatively high, and the color Doppler echocardiography screening could find out neonatal CHD earlier. The follow-up examinations and interventions should be conducted in time.

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.