目的 探讨唐氏综合征血清学筛查风险值异常孕妇选择接受无创产前基因检测（NIPT）的影响因素,为临床制定对应策略提供参考依据。方法 选取2022年1月—2022年12月唐氏综合征血清学筛查风险值异常孕妇229例,根据是否接受NIPT分为接受组（195例）与不接受组（34例）。收集两组临床资料,采用Lasso-Logistic回归分析唐氏综合征血清学筛查风险值异常孕妇接受NIPT的影响因素。结果 单因素分析显示,年龄、文化水平、居住地、家庭平均月收入、孕前优生优育检查、孕前合并生殖相关疾病、受孕方式、不良孕产史、家族史、补充叶酸、配偶意愿、NIPT认知水平、血清学风险等级是血清学筛查异常孕妇接受NIPT的影响因素（P<0.05）;Lasso回归分析筛选出7个变量,分别为年龄、文化水平、家庭平均月收入、不良孕产史、家族史、NIPT认知水平、血清学风险等级;Logistic回归分析,年龄（OR=6.269,95%CI：2.413~16.285）、文化水平（OR=4.119,95%CI：1.627~10.430）、家庭平均月收入（OR=5.102,95%CI：2.067~12.594）、不良孕产史（OR=5.247,95%CI：1.833~15.021）、家族史（OR=7.416,95%CI：2.952~18.629）、NIPT认知水平（OR=5.751,95%CI：2.338~14.146）、血清学风险等级（OR=7.866,95%CI：3.057~20.238）是血清学筛查异常孕妇接受NIPT的影响因素（P<0.05）。结论 唐氏综合征血清学筛查风险值异常孕妇选择接受NIPT的影响因素较多,包括年龄、文化水平、家庭平均月收入、不良孕产史、家族史、NIPT认知水平、血清学风险等级,能为临床提高NIPT接受度提供指导信息。

Objective To explore the influencing factors of noninvasive prenatal testing（NIPT）for pregnant women with abnormal risk value of serological screening for Down syndrome,and to provide reference for clinical development of corresponding strategies．Methods A total of 229 pregnant women with abnormal serological screening risk values for Down syndrome from January 2022 to December 2022 were selected and divided into acceptance group（195 cases）and non-acceptance group（34 cases）according to whether they received NIPT．The clinical data of the two groups were collected and Lasso-Logistic regression was used to analyze the factors influencing the acceptance of NIPT in pregnant women with abnormal serological screening risk value for Down syndrome．Results In single factor analysis,age,education level,place of residence,average monthly family income,pre-pregnancy and childbearing examination,pre-pregnancy combined with reproductive diseases,conception method,adverse pregnancy history,family history,folic acid supplementation,spouse intention,NIPT cognition level and serological risk grade were the influencing factors for the acceptance of NIPT in pregnant women with abnormal serological screening（P<0.05）．Seven variables were selected by Lasso regression analysis,which were age,education level,average monthly family income,adverse pregnancy history,family history,NIPT cognition level and serological risk level．Logistic regression analysis showed that age（OR=6.269,95%CI：2.413-16.285）,education level（OR=4.119,95%CI：1.627-10.430）,average monthly family income（OR=5.102,95%CI：2.067-12.594）,adverse pregnancy history（OR=5.247,95%CI：1.833-15.021）,family history（OR=7.416,95%CI：2.952-18.629）,NIPT cognitive level（OR=5.751,95%CI：2.338-14.146）and serological risk level（OR=7.866,95%CI：3.057-20.238）were independent influencing factors for NIPT acceptance in pregnant women with abnormal serological screening（P<0.05）．Conclusions There are many influencing factors for pregnant women with abnormal serological screening risk value to accept NIPT,including age,education level,average monthly family income,adverse pregnancy history,family history,NIPT cognition level,serological risk grade,etc．,which can provide guidance information for clinical improvement of NIPT acceptance．

目的 探讨胎儿颈部软组织(NT)超声检查联合血清甲胎蛋白(AFP)水平检测对产前胎儿神经管畸形诊断中的应用价值。方法 选取684例我院2018年4月—2021年4月接受产前检查的孕妇,所有孕妇分别采用NT超声检查、血清AFP水平检查,以引产结果为“金标准”,比较NT超声、血清AFP水平及联合检查诊断结果、诊断效能及对不同类型神经管畸形诊断符合率的影响。结果 经引产结果显示共48例神经管畸形胎儿;经NT超声检查共36例神经管畸形胎儿;经血清AFP水平检查共34例神经管畸形胎儿;经联合检查共47例神经管畸形胎儿;与NT超声、血清AFP水平单独检查相比,联合检查灵敏度89.58%、准确率98.68%、阴性预测值99.22%较高,漏诊率10.42%较低(P＜0.05);与NT超声、血清AFP水平单独检查相比,联合检查对于脑膨出、隐形脊柱裂胎儿检出率较高(P＜0.05)。结论 NT超声检查、血清AFP联合诊断准确率显著高于单独检查,可有效提高诊断效能,为临床筛查胎儿神经管畸形提供有效手段。

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 探讨孕中后期中低等强度有氧运动对高龄孕妇产前生活质量和母婴结局的影响。方法 选2017年8月—2018年12月我院接收的560名高龄孕妇作为研究对象,随机分成数量相等的两组。对照组采取常规孕期保健服务和健康教育,观察组则在此基础上增加孕中后期中低等有氧运动的干预,问卷法调查两组孕妇的抑郁情况、睡眠质量、产前生活质量,并比较两组孕妇的母婴结局。结果 χ²检验结果显示,研究组对象平均每周运动次数≥3次及平均每次运动时间≥30 min的比例高于对照组(P=0.001)。研究组对象的EPDS抑郁分值和SRSS睡眠质量分值均低于对照(P=0.006)。研究组对象产前GQOLI-74生活质量问卷中生活质量总得分高于对照组(P=0.000 1)。研究组对象的妊娠糖尿病、妊娠高血压、难产率、巨大儿发生率均低于对照组(P=0.039),但自然分娩率高于对照组(P=0.004)。结论 以瑜伽、慢走或散步为主的中低强度的有氧运动可能有助于提供高龄孕妇的产前生活质量,预防妊娠疾病和不良母婴结局,在临床上具有一定的推广意义。

Objective To study the influences of medium or low strength aerobics during 2^nd and 3^rd trimester on life quality and pregnant outcome of elderly pregnant women. Methods To select 560 elderly pregnant women in our hospital during August 2017 to December 2018 as the objects of this study. Objects were divided into control group which was given routine pregnant health services and study group which was given medium or low strength aerobicsduring 2^nd and 3^rd trimester excluding in addition. Questionnaires were used for collecting messages of depression, sleeping, life quality of objects. Pregnant outcome were compared of two groups by Chi-square test in this study. Results The ratio of average aerobics more than 3 times per week and average time more than 30min each time of study group were higher than control group(P=0.001). The scores of EPDS and SRSS of study group were lower than control group(P=0.006). The scores of GQOLI-74 of study group were higher than control group(P=0.000 1). The ratio of pregnant diabetes mellitus, pregnant hypertension, dystocia, fetal macrosomia of study group were lower than control group(P=0.039) but the ratio of eutocia was higher than control group(P=0.004). Conclusion The medium or low strength aerobics such as Yoga, taking a walk may improve pregnant life quality of elderly pregnant women and prevent pregnancy disease and abnormal pregnant outcome that deserved to promote in clinic.

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.

目的 探讨孕母产前应用盐酸氨溴索对新生儿呼吸窘迫综合征(NRDS)发病影响。方法 选取我院自2012年10月—2014年10月间收治的有早产征象的孕妇248例作为研究对象,根据孕周情况将其分成两组,即A组孕妇的孕周≤35周,B组孕妇孕周＞35周,又将两组患者随机分成两组,即A-对照组患者,A-观察组;B-对照组和B-观察组,分别对其对照组孕妇行常规药物治疗,观察组患者采用盐酸氨溴索进行治疗,对比4组新生儿的呼吸窘迫发生情况。结果 A-对照组新生儿窘迫的发生率为 (18)29.03%,B-对照组该数据为(25)40.32%;A-观察组新生儿呼吸窘迫的发生率为(8)12.90%,B-观察组该数据为(14)22.58%,两组数据对比有统计学意义,P＜0.05。结论 孕周＜35周是产前应用盐酸氨溴索预防新生儿呼吸窘迫的最佳时机。

Objective To investigate maternal antenatal ambroxol hydrochloride incidence of neonatal respiratory distress syndrome affected. Methods Since our hospital between October 2012-2014 October has admitted 248 cases of pregnant women with preterm labor signs as research subjects, according to the gestational age of the case will be divided into two groups, Group A pregnant woman's gestational age ≤35 weeks Group B pregnant gestation> 35 weeks, patients were randomly divided into two groups in turn, that the patients in the control group A-, A-observation group; B-B-observation group and control group, respectively, to its line of conventional drugs for pregnant women in the control group treatment, observation group were treated with ambroxol hydrochloride for treatment, compared to four groups of neonatal respiratory distress happen. Results A-control group incidence of neonatal distress (18) 29.03%, B-group the data (25) 40.32%; A-observation group incidence of neonatal respiratory distress (8) 12.90%, B-The data for the observation group (14) 22.58%, comparing two sets of data were statistically significant difference, P<0.05. Conclusion gestational age <35 weeks is ambroxol hydrochloride prenatal prevention of neonatal respiratory distress best time.