46,XX,-15,+der(21)t(15;21)(q11.2;q22.3)mat一例

患儿女,30天。胎龄37⁺⁵周顺产,Apgar评分10分,出生头围31 cm,身长47 cm,体重2680 g,现体重2530 g。出生3天后因高胆红素血症入住新生儿监护室,经检查诊断为新生儿高胆红素血症、新生儿高促甲状腺激素血症、新生儿代谢性酸中毒,双耳听力筛查未通过。因特殊面容,双眼眼裂小、眼距宽、鼻梁低平,疑唐氏儿,现来我科要求行外周血染色体检查。     

妊娠合并甲状腺疾病对妊娠结局和新生儿的影响

目的分析妊娠合并甲状腺疾病对妊娠结局和新生儿的影响。方法选取本院2017年4月至2018年11月收治的96例孕妇作为研究对象,根据甲状腺功能筛查情况分为甲状腺功能正常组、甲状腺功能亢进组及甲状腺功能减退组。记录三组孕妇早产、引产、自然分娩等妊娠结局及Apgar评分;比较三组胎儿宫内生长受限、胎儿宫内窘迫、低出生体质量儿、孕妇妊娠期糖尿病及妊娠期高血压疾病等不良反应发生情况。结果甲减组孕妇血清促甲状腺素(TSH)水平明显高于正常组和甲亢组,血清游离甲状腺素(FT4)与血清游离三碘甲状腺原氨酸(FT3)水平明显低于正常组和甲亢组(P0.05);甲亢组孕妇FT_4与FT_3水平明显高于甲减组和正常组,TSH水平明显低于正常组,差异具有统计学意义(P0.05);正常组剖宫产率、自然分娩率、新生儿Apgar评分明显高于甲减组和甲亢组,早产率、自然流产率、引产率明显低于甲减组和甲亢组(P0.05);正常组发生胎儿宫内生长受限、胎儿宫内窘迫、低出生体质量儿、孕妇妊娠期糖尿病及妊娠期高血压疾病的发生率明显低于甲减组和甲亢组(P0.05),但甲减组与甲亢组不良反应发生率比较无差异(P0.05)。结论妊娠合并甲状腺疾病对妊娠结局和新生儿均会产生一定的不良影响,临床上需引起重视,早期诊断积极控制病情,有利于保障母婴安全以及改善预后。     

试管婴儿(IVF-ET)新生儿期情况分析

目的前瞻性对体外授精-胚胎移植(IVF-ET)技术受孕出生的新生儿进行评估,探讨实施IVF-ET技术出生新生儿的安全性.方法从自2000年10月～2004年12月在本院接受IVF-ET治疗后受孕181例孕妇进行前瞻性追踪观察,将其分娩的新生儿254个作为观察组,本院产科自然妊娠分娩的新生儿1205个作为对照组,对两组单胎和总体新生儿胎龄、出生体重、Apgar评分、高胆红素血症、新生儿窒息、新生儿死亡及新生儿畸形发病率的进行观察比较.结果单胎新生儿的出生体重、Apgar评分、新生儿死亡率及新生儿畸形率与对照组无差异性(P＞0.05);单胎新生儿窒息率观察组低于对照组,两组比较有显著差异性(P＜0.05).两组总体比较新生儿畸形、新生儿窒息率、新生儿死亡率无差异性(P＞0.05),而新生儿低体重出生率、高胆红素血症、住院治疗时间,观察组明显高于对照组,两组比较有极显著差异性(P＜0.01);而Apgar评分观察组低于对照组两者比较有差异性(P＜0.05).结论 IVF-ET技术不增加新生儿畸形和围产期死亡率;多胎是IVF-ET技术主要并发症,是早产和低体重出生儿、高胆红素血症、新生儿窒息等新生儿不良结局的主要原因.     

Wolf-Hirschhorn综合征一例

患儿男,7天,第1胎,因"胎儿宫内发育迟缓"经住院保胎治疗无改善,于妊娠37周行剖宫产娩出.出生体重1830 g,头围28 cm,胸围26 cm,身长44 cm.Apgar评分1 min 9分,5min后10分.     

双胎妊娠辅助生殖技术出生新生儿临床分析

目的比较体外受精(IVF)或冷冻胚胎(IVF-ET)术后出生的双胎新生儿与自然受孕双胎新生儿的健康状况,以了解第一代辅助生殖技术的安全性。方法观察2001年11月至2005年11月间在中国福利会国际和平妇幼保健院出生的176例体外受精(IVF)或冷冻胚胎(IVF-ET)术后出生的双胎妊娠儿与同期出生的198例自然受孕双胎儿在新生儿期的健康状况,比较两组母亲产前孕期情况及其新生儿的胎龄、体重、身长、Apgar评分、畸形发生率和新生儿并发症。结果IVF组与自然妊娠组母亲孕期并发症差异无显著性。两组新生儿在胎龄、出生体重和身长方面差异均无显著性,在出生时窒息发生率、畸形发生率、新生儿并发症发生率方面差异均无显著性。结论体外受精(IVF)或冷冻胚胎(IVF-ET)术后出生的双胎新生儿与自然受孕双胎新生儿的健康状况无差异,第一代辅助生殖技术出生的新生儿是安全的。     

妊娠晚期羊水Ⅲ度对母婴妊娠结局的影响

目的研究妊娠晚期羊水Ⅲ度对母婴妊娠结局的影响,提高妊娠晚期监测质量,改善妊娠结局。方法共选择2015年06月至2017年06月入我院诊断妊娠晚期羊水Ⅲ度患者100例,根据分娩方式分为对照组40例和观察组60例,对照组采用阴道分娩,观察组采用剖宫产;比较两组产后孕妇并发症(包括感染、肝肾功能损伤、产后营养不良、焦虑和抑郁症状),新生儿体重、1min?Apgar评分和新生儿并发症(包括缺血缺氧性脑病、呼吸窘迫和窒息)。结果观察组孕妇并发症发生率明显低于对照组,差异有统计学意义(5.0%比20.0%,χ2=4.090,P=0.043)。两组新生儿体重比较无差异[(3.1±0.8)比(3.0±0.6)kg,t=0.098,P=0.865],但观察组1min?Apgar评分明显高于对照组,差异有统计学意义[(9.3±0.9)比(7.1±1.3),t=5.659,P=0.007]。观察组新生儿并发症发生率明显低于对照组,差异有统计学意义(3.3%比22.5%,χ2=4.418,P=0.036)。结论妊娠晚期羊水Ⅲ度适时行剖宫产可显著改善母婴妊娠结局,有较好的应用安全性和有效性。     

妊娠合并甲状腺功能减低29例临床分析

目的探讨妊娠期甲状腺功能减低的治疗时机及对围生结局的影响。方法回顾性分析2000年l0月至2010年10月于本院就诊的29例妊娠合并甲状腺功能减低患者的临床资料,根据其孕前是否开始治疗分为两组,比较两组妊娠结局及TSH、FT4在妊娠期的变化。结果妊娠合并甲状腺功能减低症占本院住院分娩数的1.05‰（29/27685）,尽管两组用药后甲状腺功能均得到改善,但妊娠前开始治疗的患者流产、早产及妊娠期糖尿病的发生率均较低,且新生儿Apgar评分较高,两组差异有统计学意义。结论甲状腺功能减低症应及时治疗,改善甲状腺功能减低后再妊娠对母儿均有利。     

一例2q31.1微缺失综合征患儿的临床表型及遗传学分析

患儿男,3.5岁.无遗传病家族史,父母非近亲婚配.其母亲分别在孕1+月、孕5+月、孕6+月有过感冒史,无明显发热反应,未服用抗生素类药物.孕38+0周超声示胎心变缓,胎儿宫内窘迫,行剖宫产出生,1分钟及5分钟的Apgar评分均为10分.出生时:体重2.3 kg(＜-2 SD),身长44 cm(＜-3SD),头围33 cm(＜-1 SD),右足脚趾2、3并趾畸形,左足底有一黄豆大小赘生物,左手尺侧外有一赘生指.出生1.5个月:体重2.7 kg(＜-3 SD),身长45 cm(＜-3 SD),头围33.5 cm(＜-3 SD),听力筛查正常,医学心理测试(DQ)评分为79分.     

妊娠高血压晚期的血流频谱和围产期胎儿情况及血流阻力对孕妇妊娠结局的影响

目的探讨妊娠高血压(HDCP)晚期的血流频谱和围产期胎儿情况及血流阻力对孕妇妊娠结局的影响。方法选择2017年5至2019年6月在成都市双流区妇幼保健院收治的具有完整产检信息的50例妊娠晚期HDCP孕妇(观察组),年龄22～35岁,平均年龄29.2岁;体质量指数(BMI)29.3～36.5 kg/m~2,平均BMI 33.5 kg/m~2;舒张压13.1～14.7 kPa(98.5～110.4 mmHg),收缩压19.7～20.4 kPa(148.1～153.7 mmHg);孕周34～39周,平均孕周37.8周;20例妊娠期高血压,14例子痫前期,8例子痫,5例慢性高血压并发子痫前期,3例妊娠合并慢性高血压。以同期50例正常健康孕妇作为对照组,年龄23～36岁,平均年龄29.7岁;BMI 28.6～36.4 kg/m~2,平均BMI 33.1 kg/m~2。收集32周产检时两组孕妇彩色多普勒超声检测子宫动脉及脐动脉的阻力指数(RI)、血流搏动指数(PI)、收缩期峰值血流速度与舒张末期血流速度的比值(S/D)数据和出生后新生儿生长指标。比较两组孕妇子宫动脉及脐动脉血流阻力指标变化和出生后新生儿生长指标,观察两组新生儿1 min和5 min Apgar评分及妊娠结局。结果观察组子宫动脉及脐动脉多普勒血流频谱RI、PI、S/D指标均明显高于对照组(子宫动脉RI:0.60±0.21 vs 0.48±0.18;PI:1.22±0.31 vs 0.78±0.28;S/D:3.32±0.42 vs 2.78±0.38。脐动脉RI:0.71±0.18 vs 0.52±0.09;PI:1.30±0.28 vs 0.69±0.19;S/D:4.12±0.37 vs 2.80±0.27)。观察组胎儿生长发育受限,与对照组比较,差异均有统计学意义(P 0.05)。观察组新生儿1 min Apgar评分7分比例和5 min Apgar评分7分比例均高于对照组(46%vs 10%,24%vs 4%),差异有显著统计学意义(P 0.01)。观察组中子宫动脉和脐动脉高RI组孕周均明显短于低RI组;子宫动脉和脐动脉高RI组产后住院时间均明显长于低RI组[子宫动脉,(12±4) d vs (8±3) d。脐动脉,(11±5) d vs (7±4) d];子宫动脉和脐动脉高RI组行剖宫产的比例均明显多于低RI组(子宫动脉,51.4%vs 20.0%;脐动脉,54.1%vs 30.8%),差异有统计学意义(P 0.05)。结论子宫动脉多普勒血流频谱指标对预测HDCP孕妇妊娠结局具有一定的临床应用价值。     

抚触对婴儿生长发育影响的研究

为观察抚触对婴儿生长发育的影响,对50例新生儿生后24h进行抚触,每日2次,每次15m in;另选同期出生的新生儿50例作为对照组,42d时实验组新生儿头围、身长、体重较对照组增长较快,且两组有统计学意义。提示:抚触能促进新生儿生长发育。     

甲亢孕妇妊娠结局的临床分析

目的探讨妊娠合并甲亢规范化治疗对妊娠结局的影响。方法选取四年间于我院建档并分娩、资料完整的妊娠合并甲亢患者77例,对其妊娠结局进行临床分析。结果甲亢未治疗组甲状腺激素水平明显增高,妊娠并发症增多,与治疗组相比,差异有显著性（P〈0.01）;未治疗组新生儿体重明显低于治疗组,差异有显著性（P〈0.05）;但两组的剖宫产率及新生儿甲状腺功能差异无统计学意义（P〉0.05）。结论及时诊断并规范治疗妊娠甲亢,可降低妊娠并发症发生率,改善妊娠结局。     

妊娠合并妊娠期高血压疾病晚期妊娠258例临床分析

目的探讨妊娠期高血压疾病对晚期妊娠的影响。方法选取我院3年来孕28w以上住院分娩病例,以妊娠合并妊娠期高血压疾病258例作观察组,随机抽取正常妊娠孕妇480例作对照组,对比分析胎盘早剥、早产、胎儿窘迫、胎儿宫内发育迟缓、死产、产后出血发生率、新生儿窒息率、剖宫产率和对孕妇的影响。结果观察组的胎盘早剥、早产、胎儿窘迫、胎儿宫内发育迟缓、死胎、新生儿窒息率、产后出血发生率、剖宫产率等母婴并发症均明显高于对照组（P〈0．05）。结论妊娠期高血压疾病对晚期妊娠的母婴结局有许多不良影响。     

The Risk Factors and Pregnancy Outcomes of 48 Cases of Heterotopic Pregnancy from a Single Center

The purpose of this study was to investigate risk factors that are associated with heterotopic pregnancy (HP) following in vitro fertilization (IVF)-embryo transfer (ET) and to demonstrate the outcomes of HP after the surgical treatment of ectopic pregnancies. Forty-eight patients from a single center, who were diagnosed with HP between 1998 and 2012 were included. All of the patients had received infertility treatments, such as Clomid with timed coitus (n = 1, 2.1%), superovulation with intrauterine insemination (n = 7, 14.6%), fresh non-donor IVF-ET (n = 33, 68.8%), and frozen-thawed cycles (n = 7, 14.6%). Eighty-four additional patients were randomly selected as controls from the IVF registry database. HP was diagnosed at 7.5 ± 1.2 weeks (range 5.4-10.3) gestational age. In six cases (12.5%), the diagnosis was made three weeks after the patients underwent treatment for abortion. There were significant differences in the history of ectopic pregnancy (22.5% vs. 3.6%, P = 0.002). There were no significant differences in either group between the rates of first trimester intrauterine fetal loss (15.0% vs. 13.1%) or live birth (80.0% vs. 84.1%) after the surgical treatment for ectopic pregnancy. The risk factors for HP include a history of ectopic pregnancy (OR 7.191 [1.591-32.513], P = 0.010), abortion (OR 3.948 [1.574-9.902], P = 0.003), and ovarian hyperstimulation syndrome (OHSS) (OR 10.773 [2.415-48.060], P = 0.002). In patients undergoing IVF-ET, history of ectopic pregnancy, abortion, and OHSS may be risk factors for HP as compared to the control group of other IVF patients. The surgical treatment of HP does not appear to affect the rates of first trimester fetal loss or live birth.     

22例妊娠合并甲状腺功能亢进的临床研究

目的对妊娠合并甲状腺功能亢进病例进行临床分析，为加强围产期治疗与防护措施提供依据。方法对22例妊娠合并甲状腺功能亢进病例的临床资料作回顾性研究。结果22例妊娠合并甲状腺功能亢进患者易并发妊高征、心衰、胎膜早破、死胎等妊娠合并症与并发症，尤其是重度病例早产与新生儿窒息的发生率明显高于轻、中度患者（P〈0．05），有一例重度患者发生甲亢危象。结论应重视妊娠期甲亢患者的及时诊断与合理治疗，重度甲亢患者应加强围产期监护以减少不良妊娠结局的发生，改善母儿预后。     

妊娠期妇女生殖道假丝酵母菌病与妊娠不良结局分析

目的探讨妊娠期妇女生殖道假丝酵母菌病对妊娠不良结局的影响。方法回顾性分析2011年1月-2014年2月在我院住院孕产妇共2500例,进行阴道分泌物细菌培养,对白色念珠菌培养阳性组与正常对照组的妊娠结局进行分析,以探讨妊娠合并生殖道假丝酵母菌病与围产期并发症的关系。结果在2500例围产期妇女中,无致病菌组（对照组）为1300例,假丝酵母菌培养阳性组（感染组）为350例,总患病率为14%,其中有症状组200例（57.14%）,无症状组为150例（42.86%）。有症状感染组、无症状感染组、对照组的胎膜早破的发生率分别为22.5%、9.33%、8.15%,早产率分别为9.5%、4%、3%,绒毛膜羊膜炎率分别为23%、8.67%、7.38%,产褥感染率分别为7.5%、4%、3.54%,新生儿黄疸的发生率分别为21%、10.67%、11.54%,新生儿窒息率分别为2%、2.67%、2.31%,低体重儿的发生率分别为1.5%、1.33%、1.92%。有症状的妊娠期妇女生殖道假丝酵母菌病与无症状组及对照组相比较,胎膜早破、早产、绒毛膜羊膜炎、产褥感染、新生儿黄疸的发生率均有显著升高,新生儿窒息率及低体重儿的发生率无显著性差异。结论孕期对有症状的生殖道假丝酵母菌病的治疗是有重要意义的。     

孕妇唐氏筛查结果中人绒毛膜促性腺激素增高与妊娠结局的关系分析

目的 研究并分析孕妇唐氏筛查结果中人绒毛膜促性腺激素(HCG)增高与妊娠结局的关系,为优生提供参考.方法 选取2014年2月至2016年2月在我院就诊的产妇268例.其中HCG水平增高产妇134例设为观察组,HCG水平正常产妇134例设为对照组.对比两组妊娠结局异常发生率.此外,将观察组产妇根据HCG水平不同分为2.5MoM＜ HCG＜3MoM组(70例),HCG＞3MoM组(64例),对比两组妊娠结局的异常发生率.结果 观察组胎儿畸形、胎盘异常、巨大儿发生率均显著高于对照组;HCG ＞3MoM组产妇胎儿畸形、胎盘异常、巨大儿发生率均显著高于2.5MoM＜ HCG ＜3MoM产妇,上述差异均有统计学意义(均P＜0.05).HCG升高与胎儿畸形、胎盘异常、巨大儿均呈显著正相关(r=0.813,P=0.000:r =0.685,P=0.000;r =0.734,P=0.000).结论 随着孕妇唐氏筛查结果中HCG逐渐增高,妊娠异常发生率也随之上升,应引起重视.     

孕妇尿中降钙素的测定及其分子的不均一性

本文观察了妊娠妇女尿中的免疫活性降钙素（ｉＣＴ）水平及其分子形式的不均一性。用亲和层析取尿中ｉＣＴ，并用放射免疫分析进行测定，２０名妊娠妇女和非妊娠妇女尿中ｉＣＴ水平分别为３９３．７±８１．６ｐｇ／ｍｇＣｒ和１４５．８±４５．９ｐｇ／ｍｇＣｒ（Ｐ＜０．００１）．提取的尿中ＣＴ稀释曲线和ＣＴ标准曲线相平行。用ｓｅｐｈａｄｅｘ凝胶色谱分析中ｉＣＴ分子的不均一性，显示正常妇女尿中主要为ＣＴ单体峰，而妊娠妇女则呈现四个免疫活性峰，分子量均大于ＣＴ单体，其意义有待阐明。     

Getting pregnant in HIV clinical trials: women’s choice and safety needs. The experience from the ANRS12169-2LADY and ANRS12286-MOBIDIP trials

Introduction: Pregnancy is an exclusion criteria in most clinical trials involving antiretroviral therapy (ART) and modern contraception methods are systematically proposed to women of childbearing age. Nevertheless pregnancies are often observed. Reproductive choices during clinical trials should be understood to adapt interventions to the level of risk for mother and baby safety. Our goal was to describe the reproductive behavior and pregnancy outcomes among HIV-infected women on second-line antiretroviral treatment enrolled in two clinical trials and to compare them with those of HIV-positive women in non-research settings.

Methods: The number and outcomes of pregnancies were recorded among 281 non menopausal women enrolled in the ANRS 12169-2LADY and ANRS 12286-MOBIDIP clinical trials in Cameroon, Senegal and Burkina Faso. All participants had agreed to use a least one contraceptive method (barrier or non-barrier) which was provided for free during the study. Data were collected through revision of pregnancy notification forms and by data extraction from the study database, regularly updated and checked during the study.

Results: Sixty-six women had 84 pregnancies between January 2010 and July 2015 resulting in a pregnancy rate of 8.0 per 100 women-years (WY) (95% CI 6.5–9.9) which is similar to the ones observed in cohort studies in Sub-Saharan Africa (varying from 2.5 to 9.4 pregnancies per 100 WY). Among 60 live births, 10 (16.6%) were born prematurely and 9 (15%) had a low birth weight. Sixteen miscarriages/stillbirths occurred (19.5%). This percentage is comparable to the one expected in the seronegative population which is reassuring for HIV-positive women considering pregnancy on ART. Only one minor birth defect was diagnosed. In univariate and multivariate analysis, miscarriages/stillbirths were not associated either with age, nadir of CD4 count, duration of ART, CD4 count, or viral load at the beginning of pregnancy.

Conclusion: HIV-positive women participating in clinical trials conducted in Sub-Saharan Africa tend to get pregnant as often as seropositive women who received medical care in non-research settings. It is therefore essential to adopt a pragmatic approach by re-evaluating the relevance of the criteria for exclusion of pregnant women according to the risk associated with exposure and to seek more effective and innovating contraceptive strategies when using potentially teratogenic molecules.     

妊娠合并膈疝一例及文献复习

目的 报道1例临床少见的妊娠合并膈疝病例的临床诊治过程,结合文献复习,总结该病的临床表现、诊断特点及治疗时机,为妊娠合并膈疝的诊治提供依据。方法 回顾分析空军军医大学附属唐都医院1例26岁经产妇妊娠合并膈疝患者的临床资料。在PubMed、中国知网及万方数据库中,以“妊娠”“膈疝”和“diaphragmatic hernia & pregnancy”为关键词,检索到1968年1月—2018年12月期间报道的妊娠合并膈疝患者计60例。结合本例诊治过程,分析患者发病年龄、发病时孕周、主要临床症状、膈疝发生部位、疝出器官、修补时机及母婴预后等临床特征。结果 61例妊娠合并膈疝患者发病年龄20~38岁,平均27.5岁;发病时孕周为20~39周,平均32.4周。61例患者中,表现为腹部剧烈疼痛42例(68.9%)、呕吐38例(62.3%)、呼吸困难35例(57.4%)、胸痛19例(31.1%)。72.1%(44/61)的患者膈疝发生部位位于左侧,疝出器官以结肠(68.9%,42/61)和胃(63.9%,39/61)居多。结合患者临床表现与孕周,41.0%(25/61)选择在产前及产时修补,37.7%(23/61)选择于产后修补。母婴病死率分别为13.1%(8/61)和16.4%(10/61)。结论 妊娠合并膈疝的发病时间集中于孕中晚期,其临床表现无明显特异性,应结合患者临床症状及孕周决定修补和分娩时机。若不能及时诊断与处理,母婴预后较差。     

The risks of statin use in pregnancy: A systematic review

Statins are contraindicated in pregnancy; however, as women delay pregnancy and statin use increases the risk of statin exposure in pregnancy is likely to rise. In contrast to some early reports that statins are teratogenic, more recent observational studies have called into question the teratogenic risk of statins. Therefore, whether statins are associated with congenital anomalies or other pregnancy complications remains an important clinical question. This article provides an up-to-date systematic review on the risks of statins in pregnancy. We conducted a literature search to identify relevant English language studies related to statin exposure and pregnancy. Single case reports, animal studies, studies only published in abstract form, and non-English language studies were excluded. A total of 16 clinical studies were included in this systematic review. Although early uncontrolled case series reported congenital anomalies associated with statin use, more recent observational studies did not report an increased risk of congenital anomalies with statin exposure in pregnancy when compared to control groups or the prevalence of congenital anomalies in the general population. Our findings show no clear relationship of congenital anomalies with statin use in pregnancy, and our study supports the findings that statins are probably not teratogenic. However, until more information is available, statins should still be avoided in pregnancy.