目的 初步探讨无创产前基因检测（NIPT）筛查胎儿患猫叫综合征临床性能。方法 收集2018年4月—2019年3月行NIPT提示胎儿患猫叫综合征高风险的孕妇,并收集其羊水细胞培养染色体核型分析或微阵列芯片检测结果,分析NIPT与羊水产前诊断结果的符合率。结果 NIPT提示猫叫综合征病例11例,孕妇均接受了羊水穿刺,染色体核型分析或微阵列芯片检测出胎儿染色体异常6例,符合率为54.5%。结论 NIPT对胎儿猫叫综合征的筛查具有临床价值,当提示高风险时必须行有创性产前诊断。

Objective To investigate the value of non-invasive prenatal testing（NIPT）for the screening of fetal Cri du Chat Syndrome（CdCS）. Methods Pregnant women who accepted NIPT with the results with high risk of fetal CdCS were selected in the study from April 2018 to March 2019．They were also accepted prenatal genetic counseling and the chromosome karyotype analysis or CMA detection of amniotic fluid cell culture．The coincidence rate of NIPT with chromosome karyotype and microarray analysis results were conducted. Results There were 11 cases with high risk of fetal CdCS in NIPT．All of them had received amniocentesis chromosome karyotype or microarray analysis,6（54.5%）cases were confirmed. Conclusions NIPT has some clinical value in screening fetal CdCS from maternal blood．Therefore,it was suggested to perform the invasive chromosomal karyotyping and CMA for high risk of fetal CdCS．

目的 探讨产前超声联合磁共振诊断胎儿部分性胼胝体发育不全的价值。方法 收集产前超声联合磁共振诊断为部分性胼胝体发育不全的胎儿15例,对比出生或引产后的检查结果,分析产前超声特征。结果 产前超声直接征象:胼胝体正中矢状切面相应部位缺失12例(12/15,80.0%)。间接征象:透明隔腔形态异常(80.0%)、侧脑室扩张(73.3%)、大脑纵裂池分离(73.3%)、脑中线丘脑后方囊性包块(26.7%)、侧脑室“泪滴状改变”(26.7%)、胼周动脉走行异常(26.7%),合并颅内或其他系统畸形6例。对比出生或引产后随访结果,诊断准确率:产前超声80.0%,产前磁共振93.3%。结论 超声可以诊断胎儿部分性胼胝体发育不全,更精确的诊断建议结合产前胎儿头颅磁共振检查。

Objective To explore the value of prenatal ultrasound in diagnosis of fetal partial agenesis of corpus callosum. Methods 15 fetuses diagnosed as partial agenesis of corpus callosum by prenatal ultrasound combined with magnetic resonance imaging (MRI) were collected. Results of examination after birth or induction of labor were compared to analyze the characteristics of prenatal ultrasound. Results Direct signs were observed in the prenatal sonographic features: 12 cases (12/15, 80.0%) were missing corresponding parts in the midsagittal section of corpus callosum. Indirect signs: transparent partition morphological abnormalities (80.0%), lateral ventricle expansion (73.3%), separation of longitudinal crack on the brain pool(73.3%), posterior thalamic midline cystic mass (26.7%), “teardrop change” of the lateral ventricle (26.7%), abnormal course of pericallosal artery (26.7%), with intracranial and other system deformity in 6 cases, including multiple anomalies. Compared with the follow-up results after birth or induction of labor, the diagnostic accuracy was 80.0% of prenatal ultrasound and 93.3% of prenatal MRI. Conclusion Ultrasonography may diagnose fetal partial agenesis of corpus callosum properly, and more accurate diagnosis could be finished combining with prenatal fetal cranial MRI.

目的 分析无创产前基因检测(NIPT)在胎儿染色体非整倍体疾病诊断中的检出效率及临床应用价值。方法 选取2016年4月—2018年3月在我院接受无创产前基因检测的3 759例孕妇作为研究对象,利用二代测序AR550平台结合生物信息学进行无创产前基因检测,NIPT 的检测范围包括21、18、13 及性染色体非整倍体。对 NIPT 高风险的孕妇,建议行羊水或脐血穿刺染色体核型分析,比较两者结果的一致性,并随访妊娠结局。结果 3759例孕妇中NIPT提示高风险27例,阳性率为0.71%。其中24例孕妇行染色体核型分析,确诊为 21-三体14例、18-三体1例、13-三体1例和性染色体数目异常4例,阳性预测值分别为100%、50%、100%和66.7%。其中NT增厚中无创孕妇99例,检出高风险为5例,检出率为5.05%（5/99）,明显高于总体检出率。结论 NIPT 对 21-三体和 18-三体具有较高的敏感性和特异性,能提高产前筛查和诊断效率,具有较好的临床应用价值.

Objective To analyze the efficiency and clinical value of noninvasive prenatal gene test (NIPT) in the diagnosis of fetal chromosomal aneuploidy. Methods From April 2016 to March 2018, 3 759 pregnant women who underwent noninvasive prenatal gene testing in our hospital were selected as subjects. The second generation sequencing AR550 platform combined with bioinformatics was used for noninvasive prenatal gene testing. The NIPT detection ranged from 21, 18, 13 to sex chromosome aneuploidy. For pregnant women at high risk of NIPT, amniotic fluid or umbilical cord blood puncture karyotype analysis was recommended to compare the consistency of the two results, and follow-up pregnancy outcomes. Results Among 3 759 pregnant women, NIPT showed 27 cases of high risk, with a positive rate of 0.71%. Twenty-four pregnant women were diagnosed as 21-trisomy in 14 cases, 18-trisomy in 1 case, 13-trisomy in 1 case and abnormal sex chromosome number in 4 cases. The positive predictive values were 100%, 50%, 100% and 66.7% respectively. Among them, 99 cases were non-invasive pregnant women with NT thickening, and 5 cases were at high risk of detection. The detection rate was 5.05% (5/99), which was higher than the overall detection rate. Conclusion NIPT has high sensitivity and specificity to 21-trisomy and 18-trisomy, can improve the efficiency of prenatal screening and diagnosis, and has good clinical application value.

目的 探讨二孩政策后二次妊娠孕妇产前不良情绪及影响因素。方法 选取2016年2月—2017年1月我院收治二次妊娠待产孕妇93例作为研究组,选取同期收治初产妇50例作为对照组,采用汉密顿焦虑量表(HAMA)和抑郁状态采用抑郁自评量表(SDS)评估比较两组产期焦虑、抑郁情绪,同时按照HAMA、SDS评分结果将研究组患者分为A组(合并不良情绪)和B组(未合并不良情绪),采用单因素和多因素Logistic回归分析方法分析影响二次妊娠孕妇产前不良情绪危险因素。结果 研究组HAMA、SDS评分均高于对照组(P＜0.05)。妊娠合并症、不适应医院环境、未参加孕妇学校及胎儿异常均为影响二次妊娠孕妇产前不良情绪危险因素。结论 二孩政策后二次妊娠孕妇产前易合并不良情绪,影响产前不良情绪危险因素较多,产前应针对性进行预防和干预。

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.