Epidural labor analgesia aims to provide effective medical services to alleviate labor pain in parturients, while adhering to the principles of voluntary participation and clinical safety. In 2018, Peking Union Medical College Hospital(PUMCH)became one of the first pilot units for labor analgesia in China, and has achieved satisfactory results in high-quality development of labor analgesia. This article mainly introduces the achievements and experience of labor analgesia at PUMCH, including: (1) prioritizing maternal and infant safety, arranging personnel rationally, and developing standardized treatment processes through multidisciplinary collaboration to ensure safe and comfortable childbirth; (2) leveraging the hospital's comprehensive capabilities in emergency treatment, and improving collaborative rescue plans for critically ill parturients and newborns; (3) implementing advanced teaching methods to effectively train and conduct simulated drills for labor analgesia and rescue of critically ill parturients; (4) conducting patient education and informative lectures to help parturients acquire a scientific understanding of labor analgesia. We hope that this experience can provide reference and inspiration for other hospitals.

Objective:To analyze the association of pre-pregnancy body mass index (BMI) and gestational weight gain with macrosomia.Methods:In this retrospective cohort study, data of all puerperae and newborns in the Obstetrics Center of Peking Union Medical College Hospital from July 2020 to June 2021 were collected, including basic maternal information, pregnancy complications and neonatal conditions. A total of 2 422 pregnant women with full-term singleton live birth and their newborns were included in the analysis. The incidence of macrosomia (≥4 000 g) was calculated according to the birth weight of the newborns. Logistic regression and heat map were used to analyze the associations of pre-pregnancy BMI and gestational weight gain with macrosomia.Results:The incidence of macrosomia was 4.00% (97/2 422) in full-term singleton live birth newborns. Pre-pregnancy body weight, pre-pregnancy BMI, pre-pregnancy overweight/obesity rate, pre-delivery body weight, total weight gain during pregnancy, mean weekly weight gain during pregnancy, the proportion of excessive weight gain during pregnancy, duration of pregnancy, and the proportion of primiparity and education level of junior college or below were all significantly higher in the puerperae of the macrosomia group than those in the non-macrosomia group [(63.87±8.27) vs (58.14±7.86) kg, (23.33±2.97) vs (21.60±2.72) kg/m2, 35.1% vs 17.3%, (77.48±9.11) vs (70.02±8.79) kg, (13.61±4.56) vs (11.88±4.40) kg, (0.34±0.11) vs (0.30±0.11) kg, 58.8% vs 31.1%, (280.47±7.79) vs (276.14±7.83) d, 34.1% vs 23.7%, 18.6% vs 7.5%] (all P<0.05). Pre-pregnancy BMI ( OR=1.227, 95% CI: 1.145-1.314), mean weekly weight gain during the whole pregnancy ( OR=33.453, 95% CI: 5.172-217.947), duration of pregnancy ( OR=1.083, 95% CI: 1.055-1.112), primiparity ( OR=1.969, 95% CI: 1.232-3.101) and education level of junior college or below ( OR=2.525, 95% CI: 1.325-4.668) were all positively associated with occurrence of macrosomia (all P<0.05). The incidence of macrosomia increased with the pre-pregnancy body mass index and mean weekly weight gain during the whole pregnancy. Conclusions:High pre-pregnancy BMI and mean weekly weight gain during the whole pregnancy are associated with the increased risk of macrosomia. Appropriate weight management during pregnancy may help to reduce the incidence of adverse pregnancy outcomes.

OBJECTIVE:To explore the pathogenic variants and clinical classification of two fetuses with Short-rib thoracic dysplasia with or without polydactyly (SRTD).METHODS:With informed consent obtained, the phenotypic characteristics of the fetuses were comprehensively examined, and genomic DNA was extracted from fetal skin tissue and peripheral blood samples of the parents with conventional phenol-chloroform method. Whole exome sequencing (WES) was carried out on both fetuses, and the candidate variants were validated by Sanger sequencing. The pathogenicity of the candidate variants was analyzed using bioinformatic software VarCards, and the impact of the variants on the protein structure was predicted with Swiss-Pdb-viewer.RESULTS:Both fetuses were found to harbor compound heterozygous variants of the DYNC2H1 gene, including c.515C>A (p.Pro172Gln) and c.5983G>A (p.Ala1995Thr) in fetus 1, and c.5920G>T (pGly1974) and c.9908T>C (p.He3303Thr) in fetus 2. The parents of both fetuses were heterozygous carriers.CONCLUSION:The compound heterozygous variants of the DYNC2H1 gene probably underlay the SRTD3 in the two fetuses.

库欣综合征(Cushing's syndrome,CS)是由于肾上腺皮质长期分泌过多的糖皮质激素引起的临床综合征.本病虽好发于育龄期女性,但由于皮质醇增多症往往会影响排卵进而导致不孕,因此,妊娠合并CS十分罕见,至今国际上仅有二百多例[1,2].未治疗的妊娠期活动性CS可显著增加母儿并发症的风险[1,3],其诊断和治疗面临的诸多挑战.本文对妊娠合并CS的临床特点、诊断、治疗及后续管理策略进行阐述.

目的:分析妊娠合并大动脉炎(TA)的妊娠结局,了解TA与妊娠之间的相互影响.方法:回顾性分析2012 年1 月至2022 年2 月在北京协和医院妇产科住院分娩的34 例妊娠合并TA患者的35 次妊娠的临床特征、实验室检查、影像学结果、治疗方案、妊娠并发症和母儿结局等.分析TA类型、TA活动性与不良妊娠结局及母儿结局的相关性,以及妊娠前后TA的活动性变化.结果:患者平均年龄为30.00±4.05 岁.活产率为94.3%,活产病例分娩孕周为36.63±2.50 周.不良母儿结局的发生率为37.1%(13/35),其中子痫前期占14.3%(5/35),流产或早产占37.1%(13/35),胎儿窘迫占17.1%(6/35),胎儿生长受限占20.0%(7/35).8.6%(3/35)的病例在妊娠期间发生心衰,2.9%(1/35)发生肺动脉高压.9 例次活动性TA患者的早产或流产、心衰和(或)肺动脉高压的发生率高于26 例次非活动性TA的孕妇,差异有统计学意义(P＜0.05).TA不同分型组间子痫前期的发生率比较,差异有统计学意义(P＜0.05).31 例次孕前确诊TA的患者在妊娠期间与妊娠前相比,TA的活动性无变化.结论:活动性TA增加了母儿不良妊娠结局的风险,子痫前期的发生与TA分型有关,进行及时恰当的治疗后,TA患者可获得良好的妊娠结局.妊娠对于TA的活动性似乎无明显影响.

目的 总结并分析妊娠期急性胰腺炎(APIP)的临床特点、诊疗方法和妊娠结局.方法 回顾性分析北京协和医院2000年10月至2022年3月收治的40例APIP患者的临床资料,根据疾病严重程度分为轻度急性胰腺炎(MAP)组(26例)和重度急性胰腺炎(SAP)组(14例),比较两组患者的发病诱因、临床特点、诊治方法及妊娠结局.结果 患者平均年龄(28.7±6.4)岁(22～45岁);APIP整个孕期均可发病.40例APIP患者无孕妇死亡,活产37例,24例(64.9％)经剖宫产终止妊娠,13例(35.1％)阴道分娩,其中早产20例(54.1％),足月产17例(45.9％);3例胎死宫内行利凡诺引产.MAP组26例患者,占65.0％;SAP组14例患者,占35.0％.两组患者的一般资料、发病原因无显著性差异(P＞0.05),而SAP组的平均住院日显著高于MAP组(P＜0.05);实验室检查结果中,SAP组的血淀粉酶、C反应蛋白(CRP)显著高于MAP组,血钙值显著低于MAP组(P均＜0.05);两组的妊娠结局比较,MAP组的分娩孕周及新生儿出生体重显著大于SAP组,新生儿窒息率显著低于SAP组(P均＜0.05).结论 APIP好发于晚孕期,早产、新生儿窒息等不良妊娠结局发生率高.妊娠结局与病情严重程度有关.确诊后根据病因不同采取对症治疗、多学科治疗对改善母婴预后非常关键.

慢性肾脏病(CKD)是指由于各种原因导致的肾脏结构或功能异常且病程≥3个月.CKD患者妊娠存在较大风险,可导致不良母胎结局,包括母体肾功能恶化、子痫前期、早产及胎儿生长受限等,且相关风险随CKD严重程度而增加.CKD患者的妊娠问题成为临床工作中面临的重要挑战.本文报告了北京协和医院收治的3例CKD合并妊娠病例的诊疗经过及母胎结局,并对相关文献进行回顾,以期为该类疾病的临床诊疗提供参考.

胎盘植入性疾病(PAS)已经成为产后出血和围产期子宫切除的主要原因.胎盘植入手术风险大,做好高危患者PAS的排查和诊断,对重度PAS患者及时转诊,选择合适的手术时机,组建多学科团队,做好可靠的术前评估和充分的术前准备,制定合理的手术方案和抢救预案,并由有经验的医生实施手术,从而将风险降至最低.对患者临床诊治的规范化管理,将有助于改善妊娠结局,降低子宫切除率,减少孕产妇严重并发症率和死亡率.

目的:鉴定先天性无痛无汗症（CIPA）家系的致病突变，为先证者家庭提供遗传咨询和产前基因诊断。方法:收集2017年12月至2021年7月中国医学科学院募集的CIPA先证者19例及其母亲再次妊娠时的胎儿20例。通过靶基因Panel测序和Sanger测序的方法鉴定先证者的致病突变，针对先证者致病突变，通过聚合酶链反应（PCR）和Sanger测序的方法对先证者父母及家系中的高风险胎儿进行基因型鉴定；基因型与先证者相同的胎儿为患儿。结果:19例CIPA先证者的基因型中，NTRK1双等位基因突变的复合杂合子14例，NTRK1基因突变的纯合子3例，母源单亲二体（UPD）2例。19例CIPA先证者中共检测出22种NTRK1基因变异，其中9种错义突变，1种无义突变，4种微缺失或微重复介导的移码突变，7种内含子变异导致的剪接异常，以及1种NTRK1基因的大片段缺失变异。19个CIPA家系的20例CIPA高风险胎儿中，检出正常基因型胎儿4例，致病突变携带者11例，NTRK1双等位基因突变复合杂合子患儿5例。2例先证者为母源NTRK1突变等位基因UPD的家系中，患儿的父母再次生育时，胎儿均为NTRK1基因突变携带者，未见母源UPD再次发生。结论:本研究为CIPA家系提供了精准的遗传咨询和产前基因诊断，为CIPA家系的健康生育提供了重要保障。

合并基础疾病的孕妇,包括慢性高血压、糖尿病、系统性红斑狼疮、抗磷脂综合征、慢性肾病等,其子痫前期和不良妊娠结局的风险明显增高.除了考虑对部分高风险人群采用小剂量阿司匹林进行预防性治疗外,应多学科管理,重视基础疾病的评估和治疗,才能获得最佳的妊娠结局.

2018年国家卫生健康委员会医政医管局发布了《关于开展分娩镇痛试点工作的通知》,各省市自治区均有多家医院成为国家分娩镇痛试点医院.妇产专科医院和妇幼保健院的椎管内分娩镇痛率普遍较高,部分医疗机构高达80％以上.北京及上海等某些综合医院椎管内分娩镇痛率已超过40％ [1],但仍有其他城市大量综合医院提升有限,甚至无法突破40％的及格线.本文对中国医学科学院北京协和医院开展椎管内分娩镇痛的相关工作流程及经验进行总结,希望能有可借鉴之处,促进综合医院椎管内分娩镇痛工作的开展.

目的 分析妊娠合并肺动脉高压(PAH)死亡患者临床特征及高危因素. 方法 收集2000年1月至2019年6月北京协和医院妇产科收治的妊娠合并PAH死亡患者资料,对其临床特征以及妊娠结局进行分析. 结果 (1)9例妊娠合并PAH死亡患者,其中1例为特发性PAH(IPAH),4例继发于先天性心脏病室间隔缺损,4例继发于风湿免疫病.所有患者均未进行孕前咨询,均未规律产检.(2)9例患者中3例孕前已诊断PAH,6例为孕期首次发现.入院时,8例为心功能Ⅲ～Ⅳ级,1例为心功能Ⅱ级.超声心动图检查估测的肺动脉收缩压(sPAP)平均值为(104±15.4) mmHg(1 mmHg=0.133 kPa),中位数是102 mmHg.9例患者中8例就诊时有胸闷憋气症状,1例因下肢肿胀、口唇紫绀而就诊.(3)9例患者均以剖宫产术终止妊娠.其中8例采用全身麻醉,1例采用连续硬膜外麻醉.(4)9例患者中,4例为分娩后48 h内死亡,另5例患者死亡时间为分娩后4～26 d,中位死亡时间为14 d.(5)9例患者中,终止妊娠孕周为20+1～35+2周,中位孕周为28+4周.其中3例为20～28周之间终止妊娠,流产儿分娩时即死亡;3例因社会经济原因放弃抢救新生儿,另外3例新生儿存活.结论 (1)妊娠合并PAH风险极高,母儿结局预后不良.孕期出现自觉症状,心功能明显下降以及对药物治疗无改善者应尽早终止妊娠.(2)与妊娠合并继发于先天性心脏病的PAH患者比较,合并继发于风湿免疫病的PAH患者更早出现胸闷憋气症状,预后更差.(3)在剖宫产围手术期极易发生PAH危象及全心功能衰竭或多器官功能衰竭,死亡率高.

抗SSA/Ro-SSB/La抗体阳性的孕妇胎儿发生先天性心脏传导阻滞的风险较高.从正常窦性心律到严重传导阻滞的病情进展可能非常迅速.妊娠期间应采用胎儿超声心动图密切监测,对于明显延长或呈现延长趋势的房窒传导间期应予以重视.及时使用糖皮质激素宫内治疗有助于阻断病情向不可逆的Ⅲ度房室传导阻滞发展.

对孕妇外周血游离DNA（cf-DNA）产前筛查提示2三体、7三体、21三体高风险的1例胎儿进行产前诊断，采用羊膜腔穿刺术，通过细胞培养及荧光原位杂交（FISH）方法对胎儿细胞进行染色体数目分析；采用单核苷酸多态性微阵列（SNP array）技术，对胎儿细胞染色体的微缺失或微重复进行检测。结果提示，羊水细胞FISH检测的结果为7三体、21三体极低比例嵌合。羊水细胞染色体核型及SNP array结果均正常。胎盘组织FISH检测结果为100% 2三体，100% 7三体及73% 21三体的嵌合。因此认为，cf-DNA检测结果存在假阳性，应对cf-DNA检测假阳性结果孕妇进行产前诊断以明确诊断。

巨细胞病毒(CMV)是导致人类先天性畸形的主要传染病,但人们对它的认识却相对不足.血清学检测CMV特异性的IgM、IgG、IgG亲和力可以在很大程度上帮助区分原发性感染和继发性感染.在已经确诊孕妇原发性感染CMV后,应该在妊娠21～22周后行羊水穿刺,进行CMV-PCR检测,进一步分析胎儿有无先天性感染.B超及核磁共振对诊断胎儿先天性畸形具有极大的优势.在出生3周内的及时诊断对新生儿的预后有重要影响.及时采取干预措施,可以预防迟发性听力损失和神经发育迟缓.本文报道了1例胎儿宫内感染CMV病例的诊疗经过及结局,提示孕妇及医务人员应加大对CMV感染的重视程度,扩大预防和治疗感染的范围.

目的 在中国人群中验证已报道的子痫前期的几种临床危险因素,以及判断中国人群中的特异性危险因素.同时,积累针对中国人群子痫前期临床危险因素的相关数据. 方法 针对2016年10月1日至2017年9月30日中国人群开展回顾性研究,共包括全国10个省份的14家代表性医院.通过分娩并发症注册平台,将分娩数据基于网络的数据采集系统进行收集和分析.本研究的主要观察结果是子痫前期,包括子痫前期、慢性高血压合并子痫前期.次要观察结果包括:子痫前期34周前分娩及其他母儿不良结局.针对各临床因素进行多因素分析,以控制混杂因素的影响. 结果 中国人群子痫前期发病比例为4.2％(4 216/99 535),最终纳入分析的分娩病例为98 020例.多因素Logistic分析结果显示,中国人群子痫前期的主要独立危险因素包括:慢性高血压疾病[OR=45.99,95％CI(36.82,57.44)]、既往子痫前期病史[OR=29.21,95％CI(21.23,40.18)]、BMI≥28 kg/m2[OR=4.51,95％ CI(3.89,5.23)]、肾脏疾病[OR=3.03,95％CI(1.95,4.71)]、多胎妊娠[OR=2.63,95％ CI (2.23,3.10)]、心脏病[OR=2.32,95％CI(1.69,3.18)]、BMI 24～28 kg/m2[OR=2.01,95％CI(1.83,2.22)].BMI的剂量-反应效应在主要观察结果(子痫前期)和两个次要观察结果(子痫前期34周前分娩、其他母儿不良结局)中均存在[超重分别为:OR=2.01,95％CI(1.83,2.22);OR=2.71,95％CI(2.24,3.28);OR=1.95,95％CI(1.54,2.47);肥胖分别为:OR=4.51,95％CI(3.89,5.23);OR=3.90,95％CI(2.93,5.17);OR=2.57,95％CI(1.77,3.74)]. 结论 本研究揭示了中国人群中子痫前期发生的危险因素,提示中国人群中越来越普遍的超重或肥胖因素是子痫前期的重要危险因素.计划妊娠前保持健康的BMI标准有利于降低部分女性患子痫前期的风险.这一数据结论对指导预防中国人群子痫前期公共卫生工作提供了科学依据.

胎儿体蒂异常是一组非常罕见的先天性畸形,主要表现为胎儿腹壁缺损、腹内脏器膨出、脊柱侧凸及肢体异常,致死率极高,生存率极低.胎儿体蒂异常的发生多数与胎膜早破、心血管异常以及生发层异常有关,绝大多数与染色体异常无关.因该病的致死率较高,胎儿出生后生存率较低,故产前诊断以及尽早终止妊娠为最佳处理准则.本文分析我院一例胎儿体蒂异常的病例,包括产前诊断、引产方法及产后情况.

子痫前期是妊娠期的常见病和特发病,对孕(产)妇及胎儿的生命健康危害严重,仅靠测量血压值和检测尿蛋白量无法对其进行准确的诊断和预测母婴的不良预后.本文就近年来被广泛关注的血清学标志物可溶性FMS样酪氨酸激酶-1和胎盘生长因子的水平比值在子痫前期辅助诊断及疾病管理中的临床价值和研究进展作一概要介绍.

Objective:To analyze the etiolgies and risk factors of perinatal death,thus to prevent and reduce perinatal morbidity.Methods:The clinical data of 151 perinatal deaths which were the stillbirths in full 28 gestation weeks or the death of newborns within 7 days of birth in Peking Union Medical College Hospital from Jan.1,2010 to Dec.31 2016 were retrospectively analyzed.After their clinical data were reviewed,their etiologies were classified and analyzed.Results:The perinatal morbidity was 11.0‰ during the 7 years period,with 6.5‰ stillbirth rate(n=89)and 4.5‰ early neonatal death rate(n=62).The annual perinatal mortality,the stillbirth rate and the early neonatal mortality were fluctuated at a low level.The first three causes of stillbirth were maternal complication (38.0 ％),umbilical cord factor(19.7 ％) and placenta factor(18.3 ％).As to the early neonatal death,maternal complication(62.7％),fetal factors(11.9％)and placenta factors(11.9％)were the leading three causes.Conclusions:The perinatal morbidity of our hospital was stabilized at relatively low levels.The leading causes of death were maternal complication,especially hypertensive disorder complicating pregnancy.Placental examination,autopsy,cytogenetic analysis,and fetal maternal hemorrhage tests are suggested as basic examination for fetal death workup.

例1 孕妇32岁,孕2产1,2009年孕37周自然分娩1男婴,于2015年外院诊断为"自闭症".本次妊娠于中国医学科学院北京协和医院常规进行产前检查,2016年5月对患儿抽取外周血,以荧光PCR技术、毛细管电泳PCR技术检测脆性X智力低下基因(fragile X mental retardation 1, X-FMR1)的CGG重复的基因型>200次,为X-FMR1完全突变型,诊断为脆性X综合征(fragile-X syndrome,FXS,OMIN 300624)患儿(先证者).即对孕妇及其母亲进行X-FMR1基因检测显示,X-FMR1基因的CGG重复基因型分别为91/29、62/31次,均符合X-FMR1前突变型.因此,行羊膜腔穿刺术检测,结果胎儿X-FMR1基因的CGG重复基因型>200次,为X-FMR1完全突变型.进一步对孕妇和先证者的外周血及本次妊娠羊水标本进行X-FMR1基因的短串联重复序列(short tandem repeat,STR)分析,结果显示,孕妇、先证者及羊水中胎儿细胞的STR(Q28-2)分别为367/369、367和367.考虑本次妊娠胎儿为X-FMR1完全突变型胎儿,孕妇及家属要求引产,胎儿大体观无明显畸形.引产后,孕妇于门诊随诊至月经正常复潮均无异常.