观察妊娠合并系统性红斑狼疮的临床分析及诊疗

目的对系统性红斑狼疮患者的妊娠时机及对妊娠结局影响进行分析探讨。方法选取我院2013年8月~2014年8月收治的56例妊娠合并系统性红斑狼疮患者临床资料进行回顾性分析,据妊娠时机分为非选择性妊娠组21例和选择性妊娠组35例,观察妊娠时机对母婴结局的影响。结果选择性妊娠组SLE活动整体上低于非选择性妊娠组,对比差异具有统计学意义(P0.05);选择性妊娠组活产率、早产率等指标均优于非选择性妊娠组活产率,对比差异具有统计学意义(P0.05)。结论孕前已确诊的SLE患者,应在产科、免疫风湿科等医师指导下选择恰当妊娠时机,以提高活产率,获得良好的妊娠结局。     

妊娠合并系统性红斑狼疮42例临床分析

目的:探讨妊娠合并系统性红斑狼疮(SLE)患者孕期病情活动与否对母婴结局的影响。方法:回顾性分析2007年1月至2013年12月北京大学第三医院收治的42例妊娠合并SLE患者的临床资料,SLE病情活动组23例,非活动组19例。结果:1除外流产,SLE病情活动组终止妊娠的孕周较非活动组小(36.2±2.8周vs 38.1±0.7周,P=0.021),早产率较非活动组高(46.7%vs 6.7%,P=0.035),活产儿平均体重低于非活动组(2456.2±754.6 g vs 2956.3±420.0 g,P=0.048)。2各类合并症中,妊娠合并狼疮肾炎发生率最高(19.0%),妊娠期高血压疾病在SLE病情活动组发生率明显高于非活动组(34.8%vs 5.3%,P=0.027),其他如妊娠期糖尿病、胎儿生长受限、羊水少、胎膜早破、前置胎盘等并发症两组间比较差异均无统计学意义(P0.05)。3孕前每天激素用量10 mg组流产及早产发生率明显高于每天激素用量≤10 mg组(55.6%vs 9.5%,75.0%vs 5.3%,P均0.05)。结论:SLE患者妊娠时发生妊娠期高血压疾病、早产、低出生体重儿的几率在SLE病情活动时明显增加,建议在病情稳定半年以上或疾病缓解期受孕,控制孕前激素用量。孕前激素用量10mg的患者流产及早产率高。     

妊娠合并系统性红斑狼疮77例临床分析

目的:探讨妊娠时机及孕期狼疮活动对妊娠合并系统性红斑狼疮(SLE)患者的妊娠并发症及妊娠结局的影响。方法:回顾分析77例妊娠合并SLE患者的临床资料,根据妊娠前SLE病情将患者分为妊娠前SLE病情稳定≥6月组(25例)、SLE病情稳定4~6月组(19例)、SLE病情稳定4月组(16例)和妊娠前SLE活动组(17例)。根据妊娠期SLE病情是否活动分为SLE稳定组(49例)和SLE活动组(28例)。比较各组的妊娠并发症和妊娠结局情况。结果:(1)妊娠前SLE病情稳定≥6个月组的子痫前期、胎儿宫内生长迟缓(IUGR)、胎儿宫内窘迫、胎儿丢失、早产及新生儿低出生体重的发生率显著低于妊娠前SLE病情活动组,其IUGR、胎儿宫内窘迫、胎儿丢失及新生儿低出生体重的发生率显著低于妊娠前SLE病情稳定4个月组。(2)妊娠期SLE稳定组的子痫前期、IUGR、PROM、胎儿丢失率、早产率和新生儿低出生体重率均显著低于SLE活动组。(3)妊娠前SLE病情稳定≥6月组的妊娠期SLE活动率低于妊娠前SLE病情稳定4个月组,差异有统计学意义(P0.05);妊娠前SLE病情稳定≥6月组和稳定4~6月组的妊娠期SLE活动率比较,差异无统计学意义(P0.05)。结论:妊娠前SLE病情应至少稳定4个月,同时孕期控制狼疮活动,以减少妊娠期并发症及改善妊娠结局。     

妊娠合并系统性红斑狼疮患者孕期病情活动的影响因素及其与妊娠结局的关系

目的 探讨妊娠合并系统性红斑狼疮（SLE）患者孕期病情活动的影响因素及其与妊娠结局的关系.方法 对1991年至2005年收治的66例妊娠合并SLE患者的临床资料进行回顾性分析.结果 （1）孕前病情不稳定、孕期新发病及孕期泼尼松用药不规范者均出现SLE病情活动;孕期S比病情活动者32例（活动组）,非活动者34例（非活动组）.（2）活动组患者发生子痫前期9例、胎儿生长受限（FGR）13例、治疗性流产7例和早产15例,非活动组分别为1例、5例、1例和4例,两组分别比较,差异有统计学意义（P均＜0.05）.（3）活动组患者不同器官损伤中,以肾损害对妊娠的影响最大;用logistic回归前进法筛选变量结果显示,肾损害是子痫前期、FGR的独立危险因素.（4）孕期泼尼松用量每天≤15 mg者子痫前期及胎儿丢失发生率分别为4.7%（2/43）及9.3%（4/43）,用量每天≥20 mg者的子痫前期及胎儿丢失发生率分别为33.3%（6/18）及44.4%（8/18）,两者比较,差异有统计学意义（P＜0.01）.结论 孕前SLE比病情不稳定、孕期新发病及孕期泼尼松用药不规范为SLE病情活动的重要影响因素.孕期SLE病情活动特别是肾损害与不良妊娠结局有密切关系.孕期泼尼松用量每天≥20 mg者发生子痫前期及胎儿丢失的几率大于每天≤15 mg者.     

妊娠合并系统性红斑狼疮与不良妊娠结局

系统性红斑狼疮（SLE）是好发于育龄期女性的自身免疫性结缔组织病。系统性红斑狼疮患者发生不良妊娠结局的风险高达19.0%～70%。妊娠合并SLE常见的不良妊娠结局包括狼疮复燃、流产、早产、子痫前期、胎儿生长受限、新生儿狼疮等。当SLE同时伴有特异性抗体如抗磷脂抗体时,不良妊娠结局的发生风险上升28.4%;伴有Ro/La抗体时,胎儿、新生儿先天性心脏传导阻滞发生率为1%～2%。SLE缓解期在医生指导下计划妊娠、孕期严密监测、个体化及多学科管理是改善不良妊娠结局的关键。     

妊娠合并系统性红斑狼疮61例临床分析

目的:探讨系统性红斑狼疮(SLE)对妊娠并发症、妊娠结局、分娩方式的影响。方法:回顾性分析天津医科大学总医院2010年1月1日—2015年12月31日收治的61例妊娠合并SLE患者的临床资料,根据SLE妊娠时机及孕前临床表现、实验室检查等分为SLE稳定组(35例)和SLE活动组(26例),并对2组的妊娠并发症、妊娠结局、分娩方式进行比较。结果:(1)在妊娠并发症方面,SLE活动组子痫前期的发生率显著高于稳定组(58%vs.0,P=0.000),胎膜早破、胎儿窘迫、胎儿生长受限、产后出血、羊水过少的发生率差异均无统计学意义(P>0.05)。(2)在妊娠结局及分娩方式方面,SLE活动组早产(50%vs.20%,P=0.014)、低出生体质量儿(50%vs.20%,P=0.014)、中期引产(27%vs.3%,P=0.018)的发生率均高于SLE稳定组,但2组的早产低出生体质量儿、足月产低出生体质量儿发生率比较差异无统计学意义(P=0.270)。SLE活动组自然分娩率低于稳定组(0 vs.43%,P=0.000)。2组间死胎剖宫产的发生率比较差异均无统计学意义(P>0.05)。(3)孕期发现的4例SLE患者,其中2例是由于反复胎心率波动于115~125次/min之间,于我院风湿科门诊就诊,确诊为SLE。结论:SLE孕产妇属于高危妊娠患者,孕期应密切监测SLE患者的临床表现,血压,以及尿蛋白、肝肾功能、免疫学指标等实验室检查指标,及时发现SLE病情活动情况,及时处理,以减少妊娠并发症及不良结局。孕期发生子痫前期时应排除SLE,对于孕期反复胎心率低的孕产妇也应警惕合并SLE。     

系统性红斑狼疮患者妊娠及终止妊娠时机的探讨

目的 探讨系统性红斑狼疮(SLE)患者适宜的妊娠时机及终止妊娠的时机。方法 回顾性分析我院1998～2003年共29例SLE患者妊娠和妊娠结局,选择出适宜的妊娠时机及终止妊娠的时机。结果29例SLE患者均在至少6个月内未服用细胞毒药物的情况下妊娠。其中23例患者在病情控制1年以上(缓解期)妊娠(为选择性妊娠组);2例患者在病情活动期未经医生同意自行妊娠,4例患者妊娠期首发SLE(为非选择性妊娠组)。两组患者在妊娠期均发生病情变化,根据个体情况选择不同剂量的糖皮质激素(泼尼松)予以适当治疗。其中选择性妊娠组妊娠评分4～9分(以中度高危为主),分娩孕周为34—38周;非选择性妊娠组妊娠评分9-15分(全部为重度高危),平均分娩孕周为32周。两组患者共分娩活婴29个,其中早产儿8个,胎儿生长受限(FGR)3个,严重先天性心脏病患儿1个,因早产并发症致早期新生儿死亡2个,未发现新生儿狼疮。结论 SLE患者妊娠期给予适当合理的糖皮质激素治疗,加强监护,在病情缓解期选择性妊娠,其安全性明显提高。在药物治疗无好转威胁母婴安全情况下,或胎儿已成熟时,应适时终止妊娠(孕34—38周终止妊娠较为适宜),可以减少并发症的发生,提高妊娠成功率及围产儿存活率。     

狼疮肾炎患者妊娠结局分析

目的 探讨系统性红斑狼疮(systemic lupus erythematosus,SLE)合并狼疮肾炎(lupus nephritis,LN)患者妊娠的母婴不良结局及危险因素.方法 对北京协和医院1 990年1月1日至2012年12月31日期间收治的93例LN患者共97例次妊娠进行回顾性分析.根据LN发病时间和病情程度分为3组:妊娠前疾病稳定组(52例次)、妊娠前疾病活动组(26例次)和妊娠期新确诊LN组(19例次).孕产妇不良结局包括妊娠期疾病加重、子痫前期、妊娠期或产后尿蛋白加重、妊娠期或产后肾功能损伤加重、孕产妇死亡、低血小板血症和低补体血症.胎儿或新生儿不良结局包括治疗性终止妊娠(因孕妇疾病加重需要终止妊娠)、胎儿丢失、新生儿死亡、早产、小于胎龄儿和新生儿窒息.组间率的比较采用x2检验和Fisher精确概率法,母婴不良结局的危险因素采用二项分类Logistic回归分析.结果 (1)孕产妇不良妊娠结局:妊娠前稳定组与活动组比较,在妊娠期疾病加重的比例差异无统计学意义[53.8％(28/52)与61.5％(16/26),x2=0.417,P＞0.05].除外妊娠20周前流产的病例(稳定组和活动组分别为5例次和4例次),2组子痫前期发生率差异也无统计学意义[36.2％(17/47)与59.1％(13/22),x2=3.204,P＞0.05].19例次妊娠期新确诊LN患者中,18例次妊娠≥20周,其中子痫前期发生率为6/18.(2)胎儿或新生儿不良结局:妊娠前疾病活动组治疗性终止妊娠的比例高于稳定组[42.3％ (10/26)与7.7％ (4/52),Fisher精确概率法,P＜0.01],差异有统计学意义.除外主动要求终止妊娠(稳定组3例次)和治疗性终止妊娠(稳定组4例次,活动组10例次)的病例,稳定组与活动组分别为45例次与16例次,活动组胎儿丢失和新生儿死亡的比例高于稳定组[5/16与6.7％(3/45),Fisher精确概率法,P＜0.05],差异有统计学意义.妊娠前活动组胎儿或新生儿不良结局发生率高于稳定组[92.3％ (24/26)与50.0％ (26/52),x2=13.483,P＜0.001],差异有统计学意义.19例次妊娠期新确诊LN组的患者中,治疗性终止妊娠5例次,胎儿丢失3例次,活产11例次,新生儿重度窒息并死亡2例次,早产9例次.(3)母婴不良结局危险因素Logistic回归分析:妊娠期疾病加重的独立危险因素为低补体血症(OR=0.300,95％CI:0.104～0.863)和低血小板血症(OR=0.054,95％CI:0.007～0.439);LN孕妇发生子痫前期的独立危险因素为低血小板血症(OR=0.151,95％ CI∶0.046～0.499)和妊娠期LN复发或新发(OR=0.135,95 ％CI∶0.027～0.679);胎儿或新生儿不良结局的独立危险因素为孕妇发生子痫前期(OR=0.134,95％CI:0.028～0.637)和妊娠期疾病活动(OR=0.026,95 ％CI:0.005～～0.138).结论 LN患者妊娠前疾病活动增加胎儿或新生儿不良结局的风险.建议LN患者疾病稳定至少6个月以上再计划妊娠,妊娠期间应密切监测血压、肾功能、尿蛋白、血小板和补体水平等指标,及早发现疾病活动并及时治疗.     

妊娠合并系统性红斑狼疮的临床研究

目的探讨妊娠合并系统性红斑狼疮对母婴结局的影响。 方法回顾性分析广州医学院第三附属医院2005年1月至2009年12月近5年收治的34例妊娠合并系统性红斑狼疮患者的临床资料。在医师指导下妊娠,为选择性妊娠组(14例);未在医师指导下妊娠,为非选择性妊娠组(20例),分析比较两组患者分娩孕周及母婴结局。连续变量补体C3、C4进行独立样本t检验。两组率的比较采用Fisher确切概率检验。 结果选择性妊娠组14例中11例病情平稳,足月分娩6例,早产6例,平均分娩孕周为(35.3±4.3)周,新生儿出生体质量(2076.9±192.4) g;非选择性妊娠组20例中12例出现系统性红斑狼疮活动,足月分娩4例,早产6例,平均分娩孕周为(33.6±4.2)周,新生儿出生体质量(1315.0±488.5) g;选择性妊娠的妊娠成功率86%,明显高于非选择性妊娠组的50% (P＝0.035)。 结论妊娠合并系统性红斑狼疮系高危妊娠,存在较高的母婴风险。非选择性妊娠有更多的胎儿丢失率,选择性妊娠和孕期多学科协作可显著改善妊娠结局。     

系统性红斑狼疮妊娠时机对妊娠结局影响的meta分析

目的:系统评价妊娠时机选择对妊娠合并系统性红斑狼疮(SLE)患者妊娠结局的影响。方法:计算机检索CNKI数据库、万方数据库、中国生物医学文献数据库、Pubmed、EMBAS、OVID等数据库,检索2000~2016年公开发表的妊娠时机的选择对妊娠合并SLE妊娠结局影响的相关研究报道,对妊娠时机的选择对妊娠合并SLE妊娠结局的影响进行合并分析。结果:纳入13篇研究共554例患者。Meta分析结果显示:在胎儿丢失率方面,选择性妊娠与非选择性妊娠比较差异有统计学意义(OR=0.09,95%CI为0.05~0.15,P0.001);在病情恶化方面,选择性妊娠与非选择性妊娠比较差异有统计学意义(OR=0.08,95%CI为0.04~0.14,P0.001);在胎儿发育迟缓方面,选择性妊娠与非选择性妊娠比较差异有统计学意义(OR=0.18,95%CI为0.09~0.39,P0.001);在子痫前期发生率方面,选择性妊娠与非选择性妊娠比较差异无统计学意义(OR=1.08,95%CI为0.37~3.17,P=0.89);在早产率方面,选择性妊娠与非选择性妊娠比较差异有统计学意义(OR=0.26,95%CI为0.17~0.39,P0.001)。结论:SLE病情稳定期选择妊娠,母婴可获得良好的妊娠结局。     

Pregnancy in women with systemic lupus erythematosus: a retrospective study of 111 pregnancies in Chinese women

Abstract

Objective.?The impact of pregnancy on lupus activity has been controversial especially in Chinese women. Research looking at predictive factors in this population are sparse. The aim of this study was therefore twofold: to determine the frequencies of abnormal pregnancy outcomes in a Chinese cohort and to identify clinical and laboratory factors predicting adverse fetal and maternal outcomes in Chinese women with systemic lupus erythematosus. Study design.?Data of 111 pregnancies of 105 systemic lupus erythematosus (SLE) patients from January 1990 to December 2008 in Peking Union Medical College Hospital in Beijing were analyzed retrospectively. Univariate analysis using chi-square test and logistic regression was used to assess the predictive value of each variable on binary outcomes. Lupus activity was based on SLE Disease Activity Index (SLEDAI) criteria. Results.?There were 23 elective, 2 spontaneous abortions, and 5 stillbirths, with 81 pregnancies resulting in live births including two multiple gestations. Three neonatal deaths were reported. Fetal loss rate including neonatal death was 11.1%. Fetal loss in active SLE group (17.0%) was significantly higher than those in inactive group (2.0%) (P?=?0.047). The incidence of premature birth in active SLE group was 25/47 (53.2%), which is significantly higher than those in inactive group (3/34, 8.8%) (P?P?Conclusion.?In general, lupus in pregnancy in the Chinese population is generally similar to other cohorts. Pregnancies can be successful in most women with SLE. However, an increase in SLE activity can occur in a significant number of patients, even those who are well controlled. Adverse fetal outcome including fetal loss, preterm birth, and SGA increases significantly with SLE flares during pregnancy with preeclampsia/eclampsia, thrombocytopenia, and active SLE serving independent predictors of adverse fetal and maternal outcome. Fetal echo should not just for heart block but for structural abnromalities as the structural malformation rate was significantly higher than general population, especially congenital heart disease.     

Renal Histology and Pregnancy Performance in Systemic Lupus Erythematosus

Previous reports indicate that maternal and fetal outcome in pregnancies complicated by systemic lupus erythematosus (SLE) may be strongly influenced by the presence of renal disease. As the relationship between renal histology and clinical function in SLE is not consistent, prospective data on the outcones of such pregnancies would aid patient counselling. Fifteen women with SLE had 18 pregnancies subsequent to renal biopsies, performed from 3 months to 8 years prior to conception. Their renal function was evaluated before, during and after pregnancy. Fourteen of 15 patients had evidence of renal involvement, based on by light and electron microscopic sections: 7 had mesangial involvement (WHO Class II); 5 had active focal or diffues glomerulonephritis (Classes III and IV); two had membranous involvement (Class V); 1, no evident disease. Perinatal outcome was similar whether lesions were milder (8 continuing pregnancies, 4 term deliveries) or more severe (6 continuing pregnancies, 3 term deliveries). Clinical renal function was normal in all but 3 cases at the beginning of pregnancy; 2 additional patients experienced moderate deteriorations in renal function during pregnancy but recovered normal function in the puerperium. Fetal outcome was abnormal (3 premature deliveries, 1 neonatal death, 1 spontaneous abortion) in all cases where renal function was decreased, while 10 of 13 pregnancies in patients with normal renal function ended in term deliveries. The data suggest that currently preconceptual rena histology provides a less accurate basis for perinatal counselling than does the assessment of clinica renal function.     

Pregnancy outcome in women with pre-existing lupus nephritis.

The aim of the present study was to assess the fetal and maternal outcome in a cohort of patients with lupus nephritis. Twenty-four pregnancies in 22 women with lupus nephritis occurring between 1991 and 2000 were analysed retrospectively. Lupus nephritis was biopsy proven before pregnancy in all cases. Women were followed from the beginning of pregnancy up to 6 months postpartum. Close fetal-maternal monitoring and frequent laboratory investigations were applied routinely to all patients. All women were prescribed steroid therapy from the beginning of the pregnancy. There were 18 live births, four spontaneous abortions and two stillbirths. Of the 18 live births, 14 were premature and four were term deliveries, representing a 25% fetal loss rate and 58% prematurity rate. There were two fetuses with congenital heart block. We recorded hypertension in 42%, proteinuria in 50% and pre-eclampsia in 25% of our patients. Proteinuria was irreversible in four cases. No maternal deaths or postpartum exacerbation of the disease were recorded in the study period. All renal flares were reversed postpartum. Patients positive for antiphospholipid antibodies had a worse perinatal outcome. Hypertension, proteinuria and antiphospholipid antibodies appear to be associated with adverse perinatal outcome and pregnancy complications. Pregnancy is not contraindicated in women with lupus nephritis, but is associated with significant fetal and maternal risks.     

Pregnancy outcome following first trimester exposure to chloroquine

Although the use of chloroquine (C) and hydroxychloroquine (HC) in the treatment of malaria prophylaxis during pregnancy is probably safe, the use of much higher doses for treatment of systemic lupus erythematosus (SLE) and rheumatoid arthritis during pregnancy has been controversial. We analyzed the cases of 24 pregnant women with a total of 27 pregnancies who had taken these drugs during their first trimester of pregnancy. C and HC were given in 11 patients with SLE, three with rheumatoid arthritis, and four for malaria prophylaxis. Most of these women had already been on antimalarial drugs for 1 to 172 months prior to pregnancy (mean, 32.2 months). Of the 27 pregnancies, 14 resulted in normal full-term deliveries, six were aborted due to severe disease activity or social conditions, three were stillbirths, and four pregnancies resulted in spontaneous abortions. No congenital abnormalities were detected in the 14 live births at ages between 9 months and 19 years (mean, 5.3 years). All these children are physically and developmentally normal with no clinical evidence of eye or hearing defects. The seven pregnancies that were associated with fetal loss occurred particularly in patients who had active SLE, although stillbirth and spontaneous abortion occurred also in patients with rheumatoid arthritis and in two of the three patients who had been treated prophylactically for malaria. Although of the 215 reported pregnancies with C and HC exposure, including our study, only seven (3.3%) had congenital abnormalities, the risk associated with antimalarials may be cumulative and further studies are needed to elucidate the safety of this drug later in pregnancy.     

Obstetrical outcome of pregnancy in patients with systemic Lupus erythematosus. A study of 60 cases.

OBJECTIVE: To analyze the course of maternal diseases and the outcome of pregnancy in patients with systemic Lupus Erythematosus (SLE). STUDY DESIGN: During a period of 11 years we prospectively followed 60 pregnancies in 46 SLE patients in a tertiary care center in Barcelona (Spain). The management protocol included: (1) planning of conception when disease was inactive; (2) frequent follow-up visits by an internist-obstetrician team; (3) use of sequential ultrasonographic, Doppler and fetal echocardiographic examinations; (4) serial evaluations of maternal immunological condition; and (5) low dose aspirin from 1 month before attempting conception and throughout pregnancy was added in women with antiphospholipid antibodies. From 1985 until 1994 prednisone prophylaxis was used in all lupus patients during the last month of pregnancy and during the first month of the puerperium; from 1995 onwards this regime was abandoned. RESULTS: The mean (S.D.) age of patients was 28.6 (4.8) years (range 20 to 42) and the mean (S.D.) previous duration of SLE was 6.25 (4.8) years (range 0 to 17). SLE was diagnosed during the pregnancy in two cases (3.3%) and the disease was active at conception in four cases (6.7%); at that time nine patients (15%) were taking prednisone. Antiphospholipid antibodies were positive in 16 patients (30.4%) and there were 10 (16.7%) pregnancies in patients having lupus nephropathy. There were three first-trimester miscarriages (5%) and four (6.7%) voluntary abortions. Obstetric complications in the remaining 53 pregnancies included: preterm delivery, 11 cases (20.8%); intrauterine growth retardation, five cases (9.4%); hypertension, 10 patients (18.9%), five of them fulfilling the criteria of preeclampsia; premature rupture of membranes, four patients (7.5%); finally, 13 neonates had a birthweight lower than 2500 g. There were 15 lupus flares (28.3%), giving a flare rate of 0.044 per patient/month. There were five neonatal deaths (perinatal mortality rate, 94 per thousand): one because of complete heart block, three due to severe hyaline membrane disease resulting from extreme prematurity and one intrauterine death in a patient having the Leiden mutation. CONCLUSION: Pregnancy in patients with SLE should not be regarded as an unacceptable high-risk condition for the mother or her baby provided that conception is accurately planned and patients are managed according to a careful multidisciplinary treatment schedule.     

The risk of fetal loss associated with Warfarin anticoagulation.

OBJECTIVES: To examine if fetal risks associated with Warfarin anticoagulation during pregnancy may have been over-estimated at the time the drug was contraindicated during pregnancy. METHODS: Seven case series with the same therapeutic objective for Warfarin anticoagulation published after 1980 were identified. The frequencies of fetal complications were calculated and compared with those of the 1980 compilation. RESULTS: The frequencies of embryopathy, stillbirths, and neonatal deaths were similar to the 1980 database, but higher with respect to spontaneous abortions (24.1 vs. 8.6%) and premature deliveries (13.9 vs. 4.6%), and lower regarding live births (73.3 vs. 83.7%). CONCLUSIONS: Fetal risks associated with Warfarin anticoagulation during pregnancy have not been overestimated. Warfarin should not be given in cases where other anticoagulants do not increase the risk for the expecting mother.     

非免疫性胎儿水肿综合征的遗传学因素及妊娠结局分析

目的探讨非免疫性胎儿水肿综合征(nonimmune hydrops fetalis,NIHF)非重型α地中海贫血胎儿的遗传学原因及妊娠结局。 方法回顾性分析2014年1月至2020年7月在广州医科大学附属第三医院超声诊断为非免疫性胎儿水肿综合征病例116例,通过染色体核型分析/染色体微阵列分析(chromosome microarray analysis,CMA)/全外显子组测序(whole exome sequencing,WES)进行产前诊断,并分析其妊娠结局。 结果103例单胎NIHF中45例(43.69%,45/103)有临床显著的产前诊断结果异常,其中30例染色体数目异常,9例有致病性/可能致病性拷贝数变异,6例有致病性/可疑致病/临床意义未明的变异。13例双胎及多胎之一NIHF中5例为非整倍体。81例单胎选择人工终止妊娠。19例单胎继续妊娠,除8例胎死宫内外,11例活产(6例早产,5例足月产);其中4例(3例早产、1例足月产)接受了出生后手术(1例行室间隔修补术,1例行腹腔穿刺引流术,1例行回肠双腔造口术,1例行肠梗阻手术),3例成功,1例术后夭折;6例未行手术者除1例生长发育迟缓,余生长发育正常。 结论NIHF主要的遗传学病因是非整倍体异常、CNV异常及点突变,CMA对胎儿遗传学病因的检出率高于染色体核型分析,应被用于一线检查手段;WES是诊断NIHF的一个非常有价值的工具,可以发现罕见单基因遗传病。