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 本研究的目的在于通过非孕期与孕期妇女行胎儿纤维连接蛋白的检测对比,再次认识胎儿纤维连接蛋白在早产预测中的价值,是否能有效的预测早产。方法 通过对180例非孕妇女行fFN检测,同时进行白带感染方面的检测,从而判断两者是否具有相关性,同时通过对150例中晚孕妇女于20～34周行fFN检测,判断其在预测早产发生方面的临床应用价值。结果 在180例非孕妇女,发生生殖道感染的患者fFN阳性率增高,与fFN阴性者有差异;在150例中晚孕妇女当中,患者于7天内分娩的敏感度,特异度,阳性预测价值,阴性预测价值为85.7%,69.33%,13.33%,99%。14天内分娩的敏感度,特异度,阳性预测价值,阴性预测价值为80％,68.67%,17.78%,99%。结论 由于 fFN检测易受生殖道感染及其他多种因素干扰,故其在早产预测中的准确性有限。

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 对胎儿中枢神经系统发育异常的患者进行回顾性分析,探讨处理及预后。方法 收集2016—2018年在本院因胎儿畸形就诊的275例患者行病案追踪和电话随访。结果 275例产前彩超提示胎儿神经系统异常中,侧脑室增宽比列最高,112例(40.73%,112/275)。其他类型的异常包括后颅窝池增宽、脉络丛囊肿、胼胝体发育不全、Dandy-Walker综合征、脊柱裂、小脑病变、蛛网膜囊肿、室管膜囊肿、复杂性畸形等,共163 例(59.27%,163/275)。112例胎儿侧脑室增宽病例中,产前或产后消退 80例(71.43%,80/112),引产25例(22.32%,25/112),其引产病例中15例(60%,15/25)为重度侧脑室增宽。结论 胎儿侧脑室增宽是一动态发展过程,产前超声发现轻中度胎儿侧脑室增宽,不用盲目引产,可定期追踪观察。对严重侧脑室增宽,或存在其他明显脑结构异常的胎儿,致残率和致死率很高,一旦发现,应给予高度重视,综合评估以明确诊断、评估预后,告知患者及家属保留胎儿可能存在的风险及近远期并发症,充分沟通,减少严重畸形儿的出生。

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 研究超声脐血流与大脑中动脉血流定量检测用于胎儿宫内窘迫的临床应用价值。方法 纳入150例住院分娩孕妇作为研究对象,其中胎儿窘迫组72例,正常对照组78例。对所有孕妇行彩色多普勒超声检查,记录脐动脉(UA)和大脑中动脉(MCA)收缩期末期最大血流速度与舒张末期血流速度比值(S/D)、阻力指数(RI)及搏动指数(PI)。采用受试者工作曲线(ROC)分析超声UA和MCA血流检测在诊断胎儿宫内窘迫中的临床应用价值。结果 胎儿窘迫组UA的S/D、RI及PI均显著高于正常对照组(P＜0.05),MCA的S/D、RI及PI均低于正常对照组(P＜0.05)。UA对预测胎儿宫内窘迫的ROC曲线显示S/D、RI及PI的敏感度为0.986、0.958及0.944,特异度为0.614、0.625及0.534。MCA对预测胎儿宫内窘迫的ROC曲线显示S/D、RI及PI的敏感度为0.897、0.924及0.892,特异度为0.712、0.657及0.684。结论 产前超声联合检测UA和MCA血流参数有助于筛查胎儿宫内窘迫,提高诊断准确性,指导临床。

Objective To study the clinical value of ultrasonic quantitative detection in blood flow and middle cerebral artery blood flow in fetal distress. Methods 150 hospitalized pregnant women were included in the study, including fetal distress group (n=72) and normal control group (n=78). Color Doppler ultrasonography was performed on all pregnant women. The maximal systolic blood flow velocity and end diastolic blood flow velocity ratio(S/D), resistance index (RI) and pulsatility index (PI) of the umbilical artery (UA) and the middle cerebral artery (MCA) were recorded. The application value of ultrasonic UA and MCA blood flow detection were analyzed by the receiver operating curve (ROC). Results The S/D, RI and PI of UA in fetal distress group were significantly higher than those in normal control group(P＜0.05). The S/D, RI and PI of MCA in fetal distress were significantly lower than those in normal control group(P＜0.05). The ROC of UA and MCA showed that S/D, RI and PI of sensitivity were[0.986,0.958,0.944 vs 0.897,0.924,0.892],the specificity were[0.614, 0.625,0.534 vs 0.712,0.657,0.684]. Conclusion The prenatal ultrasound combined detection UA and MCA blood flow parameters are helpful for screening fetal distress, improving diagnostic accuracy and guiding the clinical.

目的 探讨优质护理模式干预对凶险性前置胎盘患者胎盘恢复及胎儿的影响。方法 选取2015年3月—2017年6月我院妇产科收治的凶险性前置胎盘患者80例,随机分为对照组和观察组,各40例,分别实施常规护理及优质护理模式干预,对比分析两组患者护理干预效果。结果 观察组患者术后大出血及感染总并发症发生率低于对照组(P<0.05)。观察组患者产前、产后总出血量低于对照组,同时新生儿Apgar评分高于对照组,其差异比较均有统计学意义(P<0.01)。结论 在凶险性前置胎盘患者中实施优质护理模式干预对胎盘恢复效果更显著于常规护理,同时改善新生儿健康情况。

目的 探讨二维超声联合三维超声检测不同孕期胎儿肢体畸形的临床价值。方法 回顾性分析我科2013年1月—2015年1月超声筛查的1352名孕15~34周的孕妇,运用二维及三维超声,采用连续顺序追踪超声法检测胎儿四肢,将产前诊断结果与引产或引产结果对照。结果 1352名孕妇胎儿畸形46例(3.40%,46/1352),总涉及肢体73处(近端肢体畸形65处,远端肢体畸形8处),其中四肢短小9例(骨发育不全2例,单纯四肢短小畸形5例,成骨发育不全2例),漏诊2例;足畸形16例34处,漏诊1例,残肢畸形15例;手畸形6例,漏诊1例。结论 孕中期二维连续顺序追踪超声法联合三维超声胎儿肢体畸形检出率高,对及早发现胎儿肢体畸形有一定的诊断价值。

目的 建立胎儿左、右肺面积及肺头比的正常参考值范围。方法 对501例正常单胎妊娠12～40周胎儿在标准四腔心切面应用手工描绘法分别描迹左肺、右肺面积,分别除以头围获得左、右肺头比。结果 获得正常妊娠胎儿左、右肺面积及肺头比各孕周参考值范围。胎儿左、右肺面积及肺头比均随孕周的增长而增大。结论 正常妊娠胎儿左、右肺面积及肺头比与孕周呈正相关。不同孕周LHR参考值的建立有利于临床评价膈疝及其他胸腔占位性疾病的预后。

Objective To establish reference intervals for fetal left and right lung areas and lung area to head circumference ratio (LHR). Methods In 501 cases of normal singleton pregnancy between 12 to 40 weeks, the left and right lung areas were measured respectively by ultrasound in the standard four chamber view, using manual tracing of the limits of the lungs. The left and right LHR were calculated when head circumferences were divided by the left and right lung area. Results Normal fetal reference intervals of left and right lung areas and LHR with gestational age were obtained. Fetal left and right lung areas and LHR increased with gestational age. Conclusion Fetal left and right lung areas and LHR values positively correlated with gestational age in normal pregnancy. Normal reference intervals of fetal LHR for every gestational age are valuable for evaluation of prognosis of fetal diaphragmatic hernia and other pulmonary peripheral space-occupying lesions.