目的 分析生长受限胎儿产前诊断结果,明确其染色体异常的检出率及类型.方法 134例生长受限胎儿,通过羊膜腔穿刺、脐静脉穿刺或分娩后留取胎儿组织的方法,应用羊水细胞核型分析及低深度全基因组测序的方法对胎儿染色体核型及基因拷贝数变异进行分析.结果 134例生长受限胎儿中,染色体异常13例,异常检出率9.7％,其中病理性基因拷贝数异常9例,高于核型异常检出;孤立性生长受限胎儿的染色体异常发病率(3/41,7.3％),与综合征性生长受限的染色体异常发病率(10/93,10.8％)相比,差异无统计学意义(P=0.762).结论 胎儿生长受限病因复杂,染色体异常是其常见病因之一.对于生长受限胎儿的产前诊断,除了常规的核型以外,还需要重视基因拷贝数变异的检测.

目的 探究羊膜腔灌注对足月孤立羊水过少产妇分娩结局的影响.方法 本研究为回顾性研究,选择2017-01至2019-01北京妇产医院产科93例足月孤立羊水过少经腹羊膜腔灌注后引产患者作为灌注组,取同期135例足月孤立羊水过少产妇未接受羊膜腔灌注而直接引产为对照组,比较两组分娩结局.结果 灌注组与对照组一般情况如年龄、孕次、产次、分娩孕周及羊水指数等方面比较,差异无统计学意义(均P>0.05).灌注组中14例中转剖宫产手术,剖宫产率15.0％;对照组中40例中转剖宫产,剖宫产率29.6％,灌注组剖宫产率低于对照组,差异有统计学意义(P<0.01).灌注组与对照组比较,产后出血量[(352.58±163.05)ml vs.(353.78±99.09)ml]、胎儿窘迫发生率(25.8％vs.34.1％)、羊水Ⅲ度粪染发生率(19.4％vs.24.4％)、新生儿窒息率(1.1％vs.4.4％)均无统计学差异.结论 羊膜腔灌注可降低足月羊水过少产妇剖宫产率,不增加并发症发生率,提高产科质量.

目的:探讨足月单胎初产妇阴道试产过程中因产时发热行中转剖宫产的危险因素.方法:采用回顾性病例对照研究,纳入2019年1月1日—2019年12月31日本院产程中转剖宫产的足月单胎头位初产妇1073例临床资料,主要剖宫产指征为产时发热或可疑宫内感染的172例作为观察组,主要剖宫产指征为非产时发热的901例作为对照组.比较两组临床资料,利用单因素分析及二元logistic回归分析数据.结果:观察组分娩镇痛使用率91.9％(158/172),显著高于对照组的81.8％(737/901),修正后OR=2.410(95％CI 1.339～4.337).观察组新生儿体重[M(P25,P75)]为[3647.50(3343.75,3850.00)]g 显著大于对照组的[3495.00(3250.00,3782.50)]g,修正后 OR=1.001(95％CI 1.000～1.001).观察组合并妊娠期高血压疾病比率为4.7％,显著低于对照组的10.0％,修正后OR=0.451(95％CI 0.212～0.959).结论:产时行分娩镇痛发生产时发热中转剖宫产风险是未行分娩镇痛产妇的2.4倍,胎儿偏大的产妇生产时发热中转剖宫产风险升高,妊娠期高血压疾病是产时发热中转剖宫产的保护因素.

目的 本研究旨在探讨妊娠期高血压患者血清脂联素(adiponectin,APN)水平与肾功能及妊娠结局的相关性,为妊娠期高血压肾损伤的诊断及预测妊娠结局寻找潜在的生物学标志.方法 选取2017年1月至2019年12月首都医科大学附属北京妇产医院接诊的30例妊娠期高血压患者作为研究组,另选取同期来院产检的30例正常孕妇作为对照组.比较分析两组孕妇血清APN、24h尿蛋白、血肌酐、血尿素氮、血尿酸水平以及不良妊娠结局发生率.结果 与对照组相比,研究组孕妇血清APN水平显著降低,24h尿蛋白、血肌酐、血尿素氮以及血尿酸的水平明显上升,差异有显著性(P<0.05).研究组孕妇的早产、新生儿窒息以及新生儿呼吸窘迫综合征的发生率高于对照组.不良妊娠结局的总体发生率明显高于对照组,差异有显著性(P<0.05).结论 妊娠期高血压患者血清APN水平降低与肾功能损伤及不良妊娠结局的发生率有关,孕妇血清APN水平、肾功能指标可以对妊娠结局起到很好的预测作用.

目的:分析非免疫性水肿胎儿的产前诊断结果,明确其染色体异常的类型.方法:选取146例非免疫性水肿胎儿,通过经腹绒毛取样、羊膜腔穿刺、脐静脉穿刺及流产后取胎儿组织送检的方法进行胎儿染色体核型及低覆盖度大规模平行测序技术(CNV-seq)的分析.结果:146例胎儿的染色体异常发生率为48.6％(71/146),其中性染色体异常29例,21-三体19例,18三体13例,13-三体3例,其他染色体异常1例,致病性拷贝数变异6例.染色体异常检出率随着孕周的增加而降低,<14孕周、14～27孕周、≥28孕周孕妇的染色体异常检出率分别为68.4％(39/57)、40.8％(31/76)和7.7％(1/13).水肿胎儿最常合并的超声结构异常依次为NT/NF增厚、颈部水囊瘤及心脏异常,其染色体异常检出率分别为59.5％、59.2％及51.9％.结论:染色体异常是胎儿水肿的常见病因,特别是早中孕期出现水肿的胎儿,检出率较高.对于水肿胎儿的产前诊断,除了常规的核型以外,需重视拷贝数变异的检测.

NLRP3 inflammasome-driven inflammation represents a key trigger for hepatic fibrogenesis during cholestatic liver injury. However, whether sphingosine 1-phosphate (S1P) plays a role in NLRP3 inflammasome priming and activation remains unknown. Here, we found that the expression of NLRP3 in macrophages and NLRP3 inflammasome activation were significantly elevated in the liver injured by bile duct ligation (BDL). In vitro, S1P promoted the NLRP3 inflammasome priming and activation via S1P receptor 2 (S1PR2) in bone marrow–derived monocyte/macrophages (BMMs). Focusing on BMMs, the gene silencing of Gα12 or Gα13 by specific siRNA suppressed NLRP3 inflammasome priming and pro-inflammatory cytokine (IL-1β and IL-18) secretion, whereas Gα(i/o) and Gαq were not involved in this process. The MAPK signaling pathways (P38, ERK, and JNK) mediated NLRP3 inflammasome priming and IL-1β and IL-18 secretion, whereas blockage of PI3K, ROCK, and Rho family had no such effect. Moreover, JTE-013 (S1PR2 inhibitor) treatment markedly reduced NLRP3 inflammasome priming and activation in BDL-injured liver. Collectively, S1P promotes NLRP3 inflammasome priming and pro-inflammatory cytokines (IL-1β and IL-18) secretion via the S1PR2/Gα(12/13)/MAPK pathway, which may represent an effective therapeutic strategy for liver disease. • Hepatic NLRP3 expression was significantly elevated in BMMs of BDL-injured mouse liver. • S1P promoted NLRP3 inflammasome priming and activation in BMMs, depending on the S1PR2/Gα(12/13)/MAPK pathway. • Blockade of S1PR2 by JTE-013 reduced NLRP3 inflammasome priming and activation inflammasome in vivo.

目的 通过对22q11.2微缺失综合征胎儿的染色体及胎儿超声特点分析,明确患病胎儿临床表型与基因型间的相关关系.方法 回顾性分析2013年1月1日至2020年10月31日首都医科大学附属北京妇产医院19例产前诊断22q11.2微缺失综合征孕妇的一般情况、产前诊断指征、染色体及超声表现.结果 19例22q11.2微缺失综合征胎儿中,4例是因孕妇血清学筛查异常或外周血胎儿游离DNA筛查异常后产前诊断确诊的,15例是因胎儿超声异常行产前诊断确诊的,其中最常见的胎儿超声表现为右位主动脉弓(8/16)、室间隔缺损(5/16)及法洛氏四联症(5/16).结论 胎儿超声异常,特别是心血管异常是产前22q11.2微缺失综合征的主要表现,有必要对超声异常胎儿进行以基因拷贝数变异检测为基础的产前诊断.

Nod-like receptor (NLR) family pyrin domain containing 3 (NLRP3) has been regarded as an important initiator or promoter in multiple inflammatory diseases. However, the relationship between cannabinoid receptor 1 (CB1) and macrophage NLRP3 inflammasome and the corresponding molecular mechanism in liver inflammation remain unclear. Mouse liver injury models were induced by carbon tetrachloride (CCl4) or methionine-choline-deficient and high fat (MCDHF) diet. Human liver tissues were obtained from patients with different chronic liver diseases. CB1 expression was increased in liver tissue and macrophages of CCl4- and MCDHF-treated mice, positively correlated with NLRP3. CB1 agonist ACEA (Arachiodonyl-2'-Chloroethylamide) promoted NLRP3 expression and NLRP3 inflammasome activation in macrophages. CB1 blockade with its antagonist AM281 reduced NLRP3 expression, inflammasome activation, and liver inflammation in CCl4- and MCDHF-treated mice. MicroRNA-30b-5p (miR-30b-5p), screened by the intersection of bioinformatics databases and downregulated miRNAs in injured liver, negatively correlated with NLRP3 in mouse and human liver. miR-30b-5p was involved in CB1-mediated activation of NLRP3 inflammasome in macrophages by directly targeting NLRP3. Importantly, administration of miR-30b-5p agomir targeted NLRP3 and attenuated liver inflammation in the injured liver. Altogether, CB1/miR-30b-5p axis modulates NLRP3 expression and NLPR3 inflammasome activation in macrophages during liver inflammation, which provides a potential target for liver disease.

目的:探讨围产期自然死胎的死亡原因及可能风险因素.方法:对首都医科大学附属北京妇产医院2012年1月-2019年12月发生的357例围产期死胎病例进行回顾性分析.结果:①2012-2019年北京妇产医院分娩量为115 447例,死胎357例,总体死胎率为3.1‰,各年度差异无统计学意义(x2=3.49,P＞0.05).②围产期自然死胎共219例(61.3％).主要死因为脐带缠绕或扭转(32.9％).不同孕周死胎死因构成不同,孕32周前主要为妊娠合并症及并发症(44.6％);孕32周后则以脐带胎盘因素为主(54.4％).③高龄、多胎、妊娠期高血压疾病、脐带缠绕和附着异常、前置胎盘等15项均是围产期自然死胎的风险因素.结论:胎儿宫内死亡的原因及高危因素纷繁复杂,建立不同孕周的重点的围产保健计划,是进一步降低死胎率的关键措施.

目的 探讨颈后皮肤皱褶厚度(nuchal fold,NF)增厚胎儿染色体异常的类型及分布,明确NF增厚的临床意义.方法 以≥14周胎儿NF≥6 mm为NF增厚诊断标准,回顾性分析2013-01至2016-12医院67例NF增厚胎儿的产前诊断临床资料,其中18～23+6周胎儿行羊膜腔穿刺,≥24周胎儿行超声引导下脐静脉穿刺,死胎在流产后取胎儿组织送检,分析胎儿标本的染色体核型及基因拷贝数变异结果.结果 67例NF增厚胎儿染色体异常发生率为13.4％(9/67),其中21-三体4例,18-三体2例,性染色体异常1例,病理性致病性基因拷贝数变异2例;孤立性NF增厚胎儿的染色体异常发病率为3％(1/33),显著低于综合征性NF增厚胎儿(23.5％,8/34).结论 NF是胎儿染色体异常的重要指标,对于NF增厚的胎儿的产前诊断,除了常规检查核型以外,还需要重视检测基因拷贝数变异,特别是综合征性的NF增厚胎儿.

目的 分析脐膨出胎儿产前诊断结果,明确脐膨出胎儿染色体异常的类型及分布.方法 回顾性分析2013年1月1日至2016年12月31日于首都医科大学附属北京妇产医院产前诊断中心就诊,胎儿超声提示脐膨出的42例孕妇作为研究对象,通过经腹绒毛取样、羊膜腔穿刺或脐静脉穿刺的方法进行胎儿染色体核型及低覆盖度大规模平行测序技术分析.结果 42例脐膨出胎儿中总的染色体异常发生率为30.95％(13/42),其中18-三体10例,13-三体1例,性染色体异常2例;孤立性脐膨出胎儿的染色体异常发生率为7.1％(1/14),综合征性脐膨出的染色体异常发生率为42.86％(12/28).42例均未检测出致病性基因拷贝数变异.结论 脐膨出是提示染色体异常的重要指标,综合征性脐膨出染色体异常发病率高,需进行介入性产前诊断.

OBJECTIVE: The aim of this study was to explore the expression of intercellular adhesion molecule-1 (ICAM-1) in placental tissues of patients with preeclampsia, and to elucidate the association between its polymorphisms and pathogenesis of preeclampsia. PATIENTS AND METHODS: A total of 100 preeclampsia patients (Preeclampsia group) and 100 normal puerperae (Control group) were selected as research objects. The protein expression of ICAM-1 in placental tissues was detected via Western blotting and immunohistochemical staining. The single nucleotide polymorphisms (SNPs) rs134568, rs128343, and rs201931 in the promoter region of ICAM-1 were typed via conformation difference gel electrophoresis. Chi-square test was used to detect whether the distribution frequency of ICAM-1 genotype was in agreement with Hardy-Weinberg equilibrium. The associations of ICAM-1 alleles and polymorphic sites with pathogenesis of preeclampsia were analyzed as well. Finally, the correlation between GG genotype of ICAM-1 rs134568 and clinicopathological features of preeclampsia was analyzed. RESULTS: The protein expression of ICAM-1 in placental tissues was significantly higher in Preeclampsia group than that in Control group (p<0.05). ICAM-1 SNPs rs134568, rs128343 and rs201931 all met Hardy-Weinberg equilibrium (p>0.05). According to gene correlation analysis, ICAM-1 rs134568 polymorphism and alleles were associated with the pathogenesis of preeclampsia (p<0.05). However, ICAM-1 rs128343 and rs201931 polymorphisms and alleles had no associations with the pathogenesis of preeclampsia (p>0.05). Besides, systolic blood pressure, serum creatinine level and plasma albumin level showed no statistically significant differences between people with GG genotype of ICAM-1 rs134568 in Preeclampsia group and those in Control group (p>0.05). CONCLUSIONS: ICAM-1 expression increased significantly in placental tissues of patients with preeclampsia. In addition, rs134568 in the promoter region of ICAM-1 was associated with the pathogenesis of preeclampsia.

目的 探讨急性心肌梗死患者急诊经皮冠状动脉术后尿肝型脂肪酸结合蛋白(L-FABP)表达与急性肾损伤发生的相关性及其诊断价值.方法 选取2018年6月～2019年6月我院收治的行经皮冠状动脉术的262例患者为研究对象,根据术后是否发生急性肾损伤分为急性肾损伤组(n=86)和非急性肾损伤组(n=176).急性肾损伤组根据急性肾损伤(KDIGO)分期,分为:Ⅰ期29例、Ⅱ期39例及Ⅲ期18例.采用酶联免疫吸附法(ELISA)比较所有患者血清血肌酐(Scr)及尿L-FABP水平.绘制受试者工作曲线(ROC),并比较血清Scr、尿L-FABP对急性肾损伤的诊断价值.采用Logistic回归分析影响急性肾损伤发生的因素.结果 与非急性肾损伤组相比,急性肾损伤组患者血清Scr及尿L-FABP水平较高(P＜0.05).与Ⅰ期相比,Ⅱ期、Ⅲ期患者血清Scr及尿L-FABP水平较高(P＜0.05);与Ⅱ期相比,Ⅲ期患者血清Scr及尿L-FABP水平较高(P＜0.05).ROC诊断分析显示,尿L-FABP诊断急性肾损伤的AUC为0.917,灵敏度为80.20％,特异度为91.70％;血清Sor诊断急性肾损伤的AUC为0.807,灵敏度为77.90％,特异度为75.oo％.与血清Scr对急性肾损伤的诊断价值相比,尿L-FABP水平诊断价值显著提高.Logistic回归分析显示,高水平Scr与高水平L-FABP是急性肾损伤发生的危险因素.结论 尿L-FABP水平随急诊冠脉介入术后急性肾损伤分期增加呈显著上升趋势,且尿L-FABP对急诊冠脉介入术后急性肾损伤的发生具有较好的诊断价值.

Monocyte chemotactic protein‐1 (MCP‐1) is one of the most representative inflammatory cytokines, and has been proved to be markedly increased in injured liver and sphingosine 1‐phosphate (S1P)‐treated macrophages. However, microRNAs (miRNAs) targeting MCP‐1 and the role of miRNA/MCP‐1 axis in S1P‐mediated liver inflammation remain largely unknown. Here, we demonstrate that MCP‐1 expression is increased in the liver and isolated liver macrophages of MCDHF mice. Moreover, there is a positive correlation between the hepatic levels of S1P and MCP‐1. We then predict miRNAs targeting MCP‐1 by bioinformatics analysis and select miRNA‐1249‐5p (miR‐1249‐5p) from the intersection of TargetScan database and downregulated miRNAs in the injured liver. S1P significantly upregulates the expression of MCP‐1 and decreases miR‐1249‐5p expression in macrophages. MiR‐1249‐5p directly targets 3’‐UTR of MCP‐1 and negatively regulates its expression in S1P‐treated macrophages. Administration of miR‐1249‐5p agomir decreases hepatic MCP‐1 levels and attenuates liver inflammation in MCDHF mice. Protein‐protein interaction network by STRING displays that S1P system is closely associated with MCP‐1/CCR2 axis in the network of inflammation. In conclusion, we characterize the vital role of miR‐1249‐5p in negatively regulating MCP‐1 expression in vitro and in vivo, which may open new perspectives for pharmacological treatment of liver disease.

孕妈们,你们是否遇到过这些状况:明明自己还没到足月就常常被邻居大妈大婶问“快生了吧”?或者总被别人关心“是双胞胎吧”?会遇到这样的“小尴尬”,可能是您身上的肉肉的确多了点! 在孕期放开肚皮大吃特吃,把自己吃得都变了形,孕晚期走路都费劲,这样的孕妈在胎盘功能好的情况下,宝宝也相应长得胖,会导致生产的时候很是费劲,顺产转剖宫产的概率也会增加不少;如果孕妈的胎盘功能不够好,宝宝倒是正常大小,但因孕妈囤积的脂肪太厚,分娩结束后的减肥工作也任务艰巨.因此,孕期“长胎不长肉”就显得尤其的重要.实际上,这就是专家们常说的“体重管理”,是孕期科学管理重要的一部分.

Objective: To analyze the pregnancy outcomes of fetal tetralogy of Fallot and to explore its prenatal diagnosis and treatment procedures. Methods: The clinical data of 63 cases of fetal tetralogy of Fallot (62 cases were singleton and 1 case was one of twin) were collected retrospectively from November, 2013 to November, 2017 in Beijing Obstetrics and Gynecology Hospital. Results: (1) Totally, 63 cases out of 46 352 pregnancies were diagnosed fetal tetralogy of Fallot by fetal ultrasonic cardiogram with about 0.136%(63/46 352) occurrence rate, and the mean gestational age was (23±3) weeks. And 50 cases (79%, 50/63) terminated pregnancy by induced labour. (2) Totally, 57 cases (90%,57/63) accepted genetic diagnosis.Eight cases (13%, 8/63) existed chromosome abnormality including 21-trimosy in 6 cases, 18-trisomy in 1 case and 22q11.2 microdeletion syndrome in 1 case; and these 8 cases were determined before 28 gestational weeks. (3) And 13 cases (21%, 13/63) of no fetal genetic abnormality selected to continue pregnancy. Twelve cases underwent full term delivery (5 cases were cesarean section delivery and 7 cases were vaginal delivery). Twelve newborns underwent surgical radical operation on heart malformation and got recovery. One case underwent preterm cesarean section at 35 gestational weeks for one of twin, and the newborn with tetralogy of Fallot was dead. The other the newborns survived and were followed up for tetralogy of Fallot surgery from 1 month to 3 years old after birth and recovered. Conclusions: Fetal tetralogy of Fallot mainly is diagnosed by ultrasonic cardiogram in the second trimester. The gestational age of diagnosis may be as early as 15 gestational weeks. Fetal tetralogy of Fallot with no genetic abnormality could underwent radical heart malformation operation after birth. It is necessary to undergo genetic testing on fetal tetralogy of Fallot and prenatal multidisciplinary counseling as well.

目的:探讨足内翻胎儿产前诊断结果,明确足内翻胎儿染色体异常的发生及基因拷贝数变异情况.方法:57例超声检查提示胎儿足内翻的孕妇,通过经腹绒毛取样、羊膜腔穿刺或脐静脉穿刺的方法进行胎儿染色体核型及基因拷贝数变异的分析.结果:57例足内翻胎儿总的染色体异常发生率为17.5％(10/57).57例足内翻胎儿中孤立性足内翻11例,无染色体异常发生;综合征性足内翻46例,染色体异常发生率为21.7％ (10/46),其中18-三体3例,其他染色体异常2例,致病性基因拷贝数变异5例.结论:孤立性足内翻染色体异常发生率低;综合征性足内翻染色体异常发生率较高,需行产前诊断.对于足内翻胎儿的产前诊断,除了常规的核型以外,还需要重视基因拷贝数变异的检测.

Objective To explore the value of invasive prenatal diagnosis for different indications. Method This was a retrospective study on 11 066 pregnancies which underwent prenatal diagnosis, including chorionic villi (CV), amniotic fluid or cordocentesis, the indication of the procedures and results were evaluated. Result During the four-year period, 142 cases of CVS were involved. The proportion of "abnormal ultrasound findings" was the most popular indication (90.8%, 129/142). The most popular indication of amniocentesis was "advanced maternal age" (58.4%,6007/10 280), the most popular indication of cordocentesis was abnormal ultrasound findings (75.6%, 360/476). 176 (58.9%, 176/299) cases of chromosome abnormities were diagnosed with indication of high risk of NIPT, 10 (20.4%, 10/49) cases of chromosome abnormities were diagnosed with indication of chromosomal abnormalities of one of the couple, 209 (17.0%, 209/1226) cases of chromosome abnormities were diagnosed with abnormal ultrasound findings. 85 cases of aneuploidy were diagnosed in 404 pregnant women with abnormal NT, with the overall positive diagnostic rate of 21.0%. The positive predictive value for the women with high risk for trisomy 21, trisomy 18, trisomy 13 and X chromosome aneuploidy were 75.9%, 64.4%, 13.0% and 43.5% respectively. Conclusion Advanced maternal age and abnormal ultrasound findings were the main indication for prenatal diagnosis, the positive diagnostic rate was higher in women with high risk of NIPT, chromosomal abnormalities of one of the couple and abnormal ultrasound findings than those of other groups. The positive predictive value of NIPT for trisomy 21 or trisomy 18 is relatively high, but is much lower for trisomy 13 or X chromosome aneuploidy.

Objective: The purpose of this study is to assess the incidence of oligohydramnios at term and evaluate whether the mode of delivery in patients with oligohydramnios influences perinatal outcomes in China.Methods: A cross-sectional survey of all deliveries in 39 hospitals in China from 1 January 2011-31 December 2011 was evaluated for the mode of delivery and perinatal outcomes in women with oligohydramnios compared to those without known oligohydramnios after excluding preterm births, polyhydramnios, and oligohydramnios secondary to premature rupture of membranes.Results: Oligohydramnios complicated 3954 (4.4%) of the 89,050 pregnancies, analyzed. Pregnancy cases with oligohydramnios compared those without known oligohydramnios had a significantly higher incidence of preexisting or gestational diabetes mellitus, fetal growth restriction, nonreassuring fetal heart tracings, obesity and malpresentation (p<.001). The cesarean delivery (CD) rate was significantly higher in pregnancies with identified oligohydramnios compared to those without (84.4 versus 54.7%; p<.001). Furthermore, in 2/3 of these CD in pregnancies with oligohydramnios, the identification of oligohydramnios was the only indication for the CD. In pregnancies with oligohydramnios, vaginal delivery did not significantly increase the risks of adverse outcomes compared to vaginal delivery without oligohydramnios, except postpartum complication.Conclusion: CD is not indicated in term pregnancies with isolated oligohydramnios. Vaginal delivery of oligohydramnios is not associated with increased perinatal mortality.