目的:探讨胎儿先天性肾脏及泌尿道异常(CAKUT)与染色体非整倍体及拷贝数变异(CNVs)之间的相关性.方法:回顾分析2015 年1 月至2022 年12 月在南方医科大学南方医院妇产科产前诊断与遗传病诊断中心行介入性产前诊断的 546 例胎儿CAKUT病例资料,根据超声特征分为孤立性CAKUT组、CAKUT合并超声软指标异常组及CAKUT合并肾外系统畸形组,对遗传学检测结果与产前超声表型进行相关性分析.结果:(1)546 例中胎儿染色体非整倍体检出率为6.3%(34/539),CNVs检出率为5.6%(27/478).孤立性CAKUT组、CAKUT合并超声软指标异常组及CAKUT合并肾外系统畸形组组间非整倍体检出率比较,差异有统计学意义(P<0.001),孤立性CAKUT组与CAKUT合并肾外系统畸形组CNVs检出率差异有统计学意义(P=0.013).(2)34 例非整倍体胎儿包括13-三体(8/34)、18-三体(2/34)及 21-三体综合征(18/34)、Turner综合征(1/34)和嵌合体及易位型非整倍体(6/34).非整倍体胎儿超声表型前三位依次为肾积水(24/34)、肾脏回声增强(5/34)及多囊性肾发育不良(MCDK)(3/34).存在肾积水及肾脏回声增强胎儿的非整倍体检出率较高,分别为 7.6%(24/316)、10.9%(5/46).(3)CAKUT 胎儿中检出致病(P)CNVs 或可能致病性(LP)CNVs 共 27 例(5.6%,27/478),主要发生于 17q12(14.8%,4/27)、22q11.21(7.4%,2/27)、22q13.31(7.4%,2/43)、Xp22.31(7.4%,2/27)及 5p15.33(7.4%,2/27)区域.CNVs检出率位于前四位的胎儿CAKUT表型(被检测例数>20)为肾脏回声增强(15.9%,7/44)、肾脏体积偏小(15.2%,5/33)、输尿管扩张(11.8%,4/34)及 MCDK(8.9%,7/79).结论:孤立性CAKUT、CAKUT合并超声软指标异常及CAKUT合并肾外系统畸形的胎儿发生染色体非整倍体的风险依次升高.合并肾外系统畸形较孤立性CAKUT胎儿发生CNVs的风险增加.当产前超声提示胎儿肾脏回声增强、MCDK、肾积水、胎儿肾脏体积偏小等表型时,均应提供遗传咨询及介入性产前诊断行染色体核型分析及拷贝数变异检测明确病因.

Objective To investigate the prenatal diagnosis and prognosis of the fetus with lateral ventriculomegaly,and to provide basis for prenatal consultation and clinical treatment.Methods From January 2017 to December 2020,223 pregnant women who received prenatal ultrasound examination indicated fetal lateral ventricle dilation and further underwent interventional prenatal diagnosis in Department of Obstetrics and Gynecology,Nanfang Hospital,Southern Medical University were retrospectively analyzed.According to the lateral ventricular width of the first ultrasound examination,the patients were divided into mild group（10～11.9 mm）,moderate group（12～14.9 mm）,and severe group（≥ 15 mm）.According to the first ultrasound diagnosis of fetal lateral ventricular dilatation,the gestational age was divided into the first trimester(18～23 +6 weeks),the third trimester(24～27 +6 weeks),and the third trimester（≥ 28 weeks）.According to whether there were other abnormalities,they were divided into isolated ventriculomegaly（IVM） and non-isolated ventriculomegaly（NIVM）.According to the involved lateral ventricles,the patients were divided into unilateral lateral ventricle dilatation group and bilateral lateral ventricular dilatation group.Chromosomal karyotypes,gene chip results and pregnancy outcomes of fetal lateral ventricular dilatation cases were analyzed according to the above groups.Results Among 173 included cases,29 cases（29/173） had abnormal chromosomal results,and the rate of chromosomal abnormalities was 12.15% in mild group and 24.24% in moderate and severe group,the difference was statistically significant（P=0.039）.Of the 162 patients（162/173）followed up,122 delivered and 40 induced labor.Logistic regression analysis showed that gestational age at first diagnosis,lateral ventricle width and other structural abnormalities indicated by ultrasound examination had significant influence on delivery outcome（P＜0.05）.A total of 122 cases of infants were followed up,one case died due to severe hydrocephalus 1 week after birth,and the incidence of abnormal postnatal outcomes of isolated lateral ventricle dilation and non-isolated lateral ventricle dilation were compared [16.18%（11/68） vs 50.54%（47/93）],the difference was statistically significant（χ~2=20.123,P＜0.01）.Conclusions The prognosis of the fetus with lateral ventriculomegaly is affected by the width of lateral ventricle,whether accompanied by chromosomal abnormalities and whether accompanied by nervous system structural abnormalities.After excluding virus infection,fetal chromosomal or genetic abnormalities,ultrasound should be used to monitor the intrauterine outcome regularly.

Objective To study the epidemiological features and the related influencing factors of workplace psychological violence of midwives in Guangdong province.Methods A self-designed questionnaire survey was conducted among 1092 midwives selected by stratified cluster random sampling from 110 hospitals of 21 cities in Guangdong province.The investigation including the general information,the organizational environment,social factors,personal factors and psychological violence situation,and 1018 valid questionnaires were collected.Results The incidence of workplace psychological violence of 1018 investigated midwives was 83.8％ and 6.6％of victims had suffered psychological violence more than 11 times in the last 6 months preceding the survey.Combined with the multivariate regressive analysis and single factor analysis,it was revealed that the main risk factors contributing to workplace psychological violence would include:the level of the work unit,the nature of hospitals,timely dealing with occupational injuries and reported to the relevant departments,overloaded with work,midwifery professional is part of the nursing profession.Conclusions Magnitude of workplace psychological violence to midwives in Guangdong province asked for education intervention to improve the midwives's ability to violence prevention and control.