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中国产前诊断杂志（电子版）

中国产前诊断杂志（电子版）

Chinese Journal of Prenatal Diagnosis(Electronic Version)
《中国产前诊断杂志（电子版）》是国内第一本专注于产前诊断领域的学术类期刊，是一本在载体形式上与纸媒体相互补的多媒体光盘期刊。利用电子期刊特有的表现形式，综合运用文字、语音、视频等多方面的多媒体手段传递和报道国内外在该领域的新研究、新理念、新指南新技术，解决国内的临床医生和研究者由于受语言和获取途径的限制，很难及时准确地了解国外产前诊断发展动向的问题，帮助国内临床和研究人员吸收、借鉴和推广国际上产前诊断的先进科学技术和成功经验，从而建立适合我国国情的产前诊断的临床规范和指南。杂志与国际、国内学术组织合作，对一些影响力浣的学术会议进行深入报道。与国际知名产前诊断专业期刊进行版权合作，引入其精品文章，并请国内知名专家、学者对部分内容进行点评。对于最新发布的指南、共识、标准、意见等权威指导文件将第一时间邀请权威专家进行解读。每期推出1-2个专题进行深入研讨，将每年产前诊断专业的前沿性内容展示给相关医务人员。
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  • 发文量：836
  • 被引量：272
  • H指数：0
  • 开始收录时间：2008(1)
  • CNKI综合因子：0.383
  • 维普期刊影响因子： 0.53
  • 万方期刊影响因子：0.86
  • 创刊时间：2009
  • 国内刊号/CN：11-9300/R
    国际刊号/ISSN：1674-7399
  • 发行周期：季刊
    邮发代号：-
  • 主管单位：中华人民共和国卫生部
    主办单位：人民卫生出版社
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  • 摘要：遗传性疾病(简称遗传病)是指以遗传因素作为惟一或主要致病因素的一大类疾病,遗传因素以细胞水平的染色体数目或结构畸变和分子水平的基因改变为主。据统计,活产新生儿中患不同种类遗传病者占4%~5%,其中单基因病占1%,多基因病占2%~3%,染色体病占0.5%。约1%新生儿患严重畸形,0.5%有代谢异常[1]。随着临床遗传学的发展,分子遗传学等新技术的应用。
  • 摘要：先天性心脏病是先天性畸形中最常见的一类,约占各种先天畸形的28%,指在胚胎发育时期由于心脏及大血管的形成障碍或发育异常而引起的解剖结构异常,或出生后应自动关闭的通道未能闭合(在胎儿属正常)的情形。先天性心脏病发病率不容小视,占出生活婴的0.4%~1%,这意味着我国每年新增先天性心脏病患者15万~20万。产前超声筛查有利于尽早诊断先心病。
  • 摘要：胎儿缺氧常见,是引起围生期残障和死亡的主要原因[1,2]。更重要的是,近年来的研究证实了胎儿宫内慢性缺氧是日后成人慢性疾病包括肥胖、高血压、糖尿病、代谢综合征、动脉粥样硬化的主要易感因素之一[3-9]。因此,产前Doppler超声检测胎儿缺氧并加以干预具有重要的意义。本文主要介绍Doppler超声检测胎儿缺氧方法及其注意事项,如何分析并诊断,如何定量评价胎儿宫内缺氧及其严重程度。
  • 摘要：目的：探讨实时双多普勒成像技术测量 Tei 指数（TI）并评价妊娠高血压综合征（简称妊高征）胎儿左、右心室功能的价值。方法将研究对象按美国妇产科医师学会公布的妊高征诊断标准分为3组：A 组为对照组，正常妊娠孕妇（60例）；B 组为妊娠期高血压及轻度子痫前期组（22例）；C 组为重度子痫前期组（24例）。采用实时双多普勒成像技术分别测量胎儿在同一心动周期内的左心室 Tei 指数（LTI）和右心室 Tei 指数（RTI）。结果TI 与孕周（GA）及胎心率（FHR）无明显相关性（P＞0．05）。A、B、C 3组 LTI 和 RTI 逐渐升高（P＜0．001）；C 组与 A 组比较，差异有统计学意义（P＜0．001）；C 组与 B组比较，差异有统计学意义（P＜0．001）；B 组与 A 组比较，差异无统计学意义（P＞0．05）；同一医师测量同一胎儿的 LTI 和 RTI 组内相关系数（ICC）分别为：0．973及0．979，不同医师测量同一胎儿的 LTI 和RTI 的 ICC 分别为0．805及0．822。结论实时双多普勒成像技术测量胎儿 LTI 及 RTI 能简便、准确、有效地综合评价妊高征患者胎儿左、右心室的整体功能，且重复性好。%Objective To explore the clinical value of Tei index(TI)measured by realtime dual Doppler modality in evaluating the fetal left and right ventricular function in pregnancy-induced hypertension syn-drome.Method According to American College of Obstetricians and Gynecologists(ACOG)categories, objects of this study were divided into three groups.Sixty fetuses of healthy mothers were assigned as the control group (Group A),22 fetuses of pregnancy-induced hypertension and mildly pre-eclamptic mothers constituted as Group B and 24 fetuses of severely pre-eclamptic mothers constituted as Group C TI was generated from the same fetal cardiac cycle by dual Doppler modality.Results The LTI and RTI have no significant correlation with gestational age and fetal heart rate (P>0.05).The LTI and RTI of group A, B,C were incre ased (P<0.001).There was a significant difference between group C and group A (P<0.001),and also between group C and group B (P<0.001 ).There was no difference between group B and group A (P>0.05).The intraclass correlation coefficient of LTI and RTI for intra-and inter-observer measurements were 0.973,0.979 and 0.805 ,0.822,respectively.Conclusions Tei index measured by dual Doppler modality was easy and valuable for estimating fetal biventricular integral functions.
  • 摘要：双胎输血综合征(twin-twin transfusion syndrome,TTTS)是双胎妊娠中一种严重并发症,围产儿死亡率极高。患有TTTS的胎儿若未经治疗,死亡率可达80%~90%,幸存儿也会引起较高风险的脑损伤;经传统方法治疗之后,胎儿可于29周终止妊娠,存活率为50%~60%,会引起30%的神经损伤;若采用激光手术治疗后,胎儿终止妊娠的时间可延长至34周,术后存活率上升至75%,神经损伤率降至7%(3%~12%)。授向我们阐述了激光治疗TTTS后可能产生的并发症及结局。现如今。
  • 摘要：母胎间的营养物质和代谢产物的交换是维持正常妊娠必须的条件之一,这一过程的完成,需要滋养细胞在妊娠早期成功侵袭子宫螺旋动脉壁,破坏其肌性成分,将管腔狭细和高血管阻力的子宫螺旋动脉转化为管腔宽大、低血管阻力的子宫胎盘循环动脉(uteroplacental artery),同时逐渐深入胎盘向更低压力的胎盘绒毛间隙供血,在绒毛间隙完成母体与胎儿间氧和营养物质的交换。如果子宫螺旋动脉的这种妊娠生理性改变不足。
  • 摘要：Objective To discuss the diagnostic timing and clinical significance of nuchal cord by color Doppler ultrasonography.Method Cases of Nuchal Cord were diagnosed in 5171 pregnant women by ul-trasound detection,and their diagnosis was compared with the result after childbirth.Results In 5171 pregnant women,1016 cases of Nuchal Cord were found after childbirth,the incidence rate was 19.6%. The diagnostic accuracy increased with the increment of gestational weeks.The rate of cesarean section and fetal distress had no significant differences between the normal group and the fetuses with cord around neck group (P>0.05).Conclusions The diagnostic accuracy rate was high in third trimester of pregnan-cy.The diagnosis of Nuchal Cord in third trimester of pregnancy has no obvious influence of the choice of the delivery mode and adverse pregnancy.%目的：探讨彩色多普勒超声诊断脐带绕颈的时机及其临床意义。方法应用彩色多普勒超声对5171例孕妇进行检查并对脐带绕颈者做出诊断，追踪其妊娠结局，与分娩后结果进行对照。结果5171例孕妇分娩后有脐带绕颈者1016例，占分娩总数的19．6％。随着孕周增加超声诊断符合率逐渐增加。脐带绕颈组与未绕颈组比较，其剖宫产率及胎儿窘迫发生率差异比较无统计学意义（P＞0．05）。结论孕晚期脐带绕颈诊断符合率高，晚期诊断脐带绕颈对分娩方式的选择及不良妊娠结局无明显影响。
  • 摘要：脊髓性肌萎缩(spinal muscular atrophy,SMA)是一种基因突变导致脊髓前角细胞变性引起肌无力和肌萎缩等临床症状的一组疾病。遗传方式以常染色体隐性遗传为主,也有常染色体显性遗传和X连锁遗传[1,2]的报道。活产儿中发病率约为1/6000~1/10 000,是第二常见的致死性常染色体隐性遗传病,仅次于囊性纤维化。文献显示,中国南方SMA致病基因SMN1携带者率为1/35~1/80[3]。
  • 摘要：目的：调查从事产前超声筛查的医生对产前诊断相关知识的知晓情况。方法本研究以2013年9月17～18日江苏省产前诊断中心抽查的江苏省内有产前超声诊断资质的机构内从事产前诊断的超声医生为研究对象，进行知识问卷调查（包括基本信息、孕早期染色体异常筛查及孕中期超声结构筛查三部分），并将结果进行统计处理和分析。结果本研究共发放问卷130份，有效问卷127份（97％）。127名参与调研的产前超声筛查医生对孕早期染色体异常产前诊断相关问题总体判断正确率为90．45％，单位隶属科室、超声医生的技术职称及参与产前诊断课题的相关经验与结果判断的正确率有相关性；对孕中期超声结构筛查相关知识的总体判断正确率为86．09％，其中对机械指数（MI）值等安全参数的设定、孕中期胎儿结构筛查的合适孕周的选择正确率较低，且结果判断正确率与学历、医院的等级、参与相关培训的情况等有关。结论产前超声筛查医生对产前诊断相关知识有较基本的掌握，但有些方面如不同筛查类型的孕周要求、对胎儿超声安全性的认识等方面仍有欠缺，需加强产前诊断相关知识的培训。
  • 摘要：目的：探讨使用差速贴壁法富集和纯化经宫颈采集的脱落滋养细胞在早孕期产前诊断中的应用价值。方法采用细胞刷法收集100例孕妇人工流产前由宫颈处取得的脱落滋养细胞，随机分为两组，一组采用差速贴壁法富集细胞为实验组，另一组为对照组，采用直接培养，比较两组最终的细胞总量及滋养细胞所占比率，采用 FISH 方法对两组标本进行检测并分析结果。对人流后的绒毛采用染色体核型分析判断性别。结果实验组细胞总量、滋养细胞所占比率均优于对照组，FISH 检测结果中实验组45例检验成功并与绒毛检测结果相符，对照组29例检验成功并与绒毛检测结果相符。结论经宫颈获取胎儿滋养细胞为孕早期无创性产前诊断提供了一个可能途径，利用差速贴壁法可以富集并纯化滋养细胞，更利于用 FISH 行后续的产前诊断。
  • 摘要：目的：探讨胎儿超声心动图在先天性心脏病产前诊断中的临床价值。方法回顾性分析2009年1月至2011年12月于南京大学医学院附属鼓楼医院母胎医学中心行胎儿超声心动图检查的176例可疑心脏异常胎儿的病例资料，比较系统结构筛查诊断、胎儿超声心动图诊断与产后诊断的差异。结果①176例系统结构筛查提示可疑心脏异常胎儿进行超声心动图检查，发现胎儿先天性心脏病172例，占97．7％；②176例系统结构筛查提示可疑心脏异常胎儿中，4例提示室缺可能（室缺均＜2．0 mm）的胎儿行超声心动图检查提示正常，均经产后新生儿超声心动图证实；111例终止妊娠，其中7例于本院引产并尸解，尸解结果与产前超声心动图结果均一致；61例继续妊娠，55例胎儿系统结构筛查诊断、胎儿超声心动图诊断与产后诊断均一致，1例系统结构筛查提示右心增大胎儿行超声心动图检查提示室缺、主动脉骑跨，后经产后超声心动图证实，1例系统结构筛查提示右位主动脉弓胎儿行超声心动图检查提示双主动脉弓，后经产后超声心动图证实，2例产前超声提示室缺的胎儿产后超声心动图提示正常，另误诊主动脉缩窄 1例，漏诊肺静脉异位引流 1例。结论胎儿超声心动图对先天性心脏病有较高的产前诊断率，是产前筛查胎儿先天性心脏病的重要方法。%Objective To probe the clinical value of fetal echocardiography in prenatal diagnosis of con-genital heart disease.Method 176 suspicious fetal CHD cases detected by systematical structural screen-ing in maternal-fetal medical center of Nanjing Drum Tower Hospital from January 2009 to December 2011 were included and taken fetal echocardiography,comparing the differences between systematical structural screening,fetal echocardiography and postpartum.Results ①176 suspicious fetal CHD cases detected by systematical structural screening were taken fetal echocardiography and 172 cases of fetal congenital heart diseases were found,which owns 97.7% of the whole cases.②Within the same 176 cases,fetal echocar-diography indicated normal for the 4 cases of possibly ventricular septal defect indicated by systematical structural screening (ventricular septal defect<2.0 mm),and they were verified by the postnatal neonatal echocardiography.Termination of pregnancy was found in 111 cases,7 cases of which were also autopsied in our hospital,with the result of autopsy corresponding to that of prenatal echocardiography.61 cases continued the pregnancy,where 55 cases of systematical structural screening,fetal echocardiography and postpartum were identical to each other.1 case indicated that ventricular septal defect and aortic overriding by echocardiography for the fetal with enlarged right ventricle indicated by systematical structural screen-ing,then verified by the postnatal echocardiography.1 case indicated double aortic arch by echocardio-graphy for the fetal with right aortic arch indicated by systematical structural screening,followed by the verification of postnatal echocardiography.2 cases indicates normal by postnatal echocardiography for the fetal with ventricular septal defect indicated by prenatal ultrasound.1 case was misdiagnosed coarctation of the aorta and the last case was missed anomalous pulmonary venous connection.Conclusions Fetal echo-cardiography with high prenatal detection rate of congenital heart disease is one of the important methods of prenatal screening for fetal congenital heart disease.
  • 摘要：随着超声技术的发展，多普勒技术在产前诊断中的应用也越来越广，可无创伤性地探测血流方向、血流速度、血流速度的变化及组织之间的运动，尤其是彩色多普勒超声大大地提高了先天性血管畸形的检出率。本文将对多普勒技术在产科的临床应用做一综述。
  • 摘要：对1例手术病理证实的胎儿胸腹裂孔疝合并肺隔离症的产前及产后影像学表现及变化进行分析。分析得出，此例在胎儿期实际上是肺囊腺瘤样畸形、肺隔离症和胸腹裂孔疝合并存在的复合病变。结合文献对胎儿胸肺常见病变及其复合病变的影像学表现进行探讨。
  • 摘要：该文章发表于2010年的《Early Human Devel—opment》上。胎盘功能不良时胎儿会优先供应脑部的血流（脑保护效应），因此会引起严重的胎儿宫内生长受限（IUGR）。用多普勒测量脑动脉和脐动脉的搏动指数（u／c比）也证实了这一点，此外，IUGR也与胎儿神经系统预后有关。该研究主要目的是评估早产儿11年后行为表现，从而检测脑保护效应的效果。
  • 摘要：Objective To investigate the safety of invasive prenatal diagnostic procedures of prenatal diagnosis for twins and its significance.Method This study retrospectively analyzed the 174 twin preg-nancies who took invasive prenatal diagnostic procedures guided by ultrasound in Guangdong Women and children’s hospital from 2011-01-01 to 2014-02-08.The indications,results and outcomes of invasive pre-natal diagnostic procedures were analyzed.Results ①Totally 283 fetus were examined,and there were 29 abnormal results.The abnormal detection rate was 10.2% (29/283 ).There were 15 severely abnormal results.The rate was 5 .3% (15/283).②The fetal loss rate within two weeks after the procedure were 0.0%(0/7)、1 .3% (2/149 )、0.0% (0/18 )respectively in the different group of chorionic villi sampling group/mniocentesis group /cordocentesis group.The total fetal loss rate were 14.3%(1/7 )、3.4%(5/149)、0.0%(0/18)respectively.Conclusions Invasive prenatal diagnostic procedures can find fetus with congenital abnormality effectively.Doctors should advice twin pregnancies who had indications to take in-vasive prenatal diagnostic procedure after warning relative risks.%目的：通过分析近年来本科室双胎妊娠产前诊断结果，以探讨双胎产前诊断的安全性及意义。方法回顾性分析2011年1月1日至2014年2月28日于广东省妇幼保健院医学遗传中心行介入性产前诊断的174例双胎妊娠孕妇资料，分析其产前诊断指征、结果及结局。结果①总共对283个胎儿取样，共检出29个异常，异常检出率10．2％（29／283）。其中胎儿预后不良异常15个，异常率5．3％（15／283）。②绒穿组／羊穿组／脐穿组术后2周内流产率分别为0．0％（0／7）、1．3％（2／149）、0．0％（0／18）；双胎总流产率分别为14．3％（1／7）、3．4％（5／149）、0．0％（0／18）。结论介入性产前诊断技术能有效发现胎儿异常，对于符合产前诊断指征双胎孕妇，告知相关手术风险后仍需建议孕妇行相关介入性产前诊断检查。
  • 摘要：目的：探讨胎儿阴茎阴囊转位的声像图特征及超声在诊断此畸形中的应用价值。方法分析10例产前超声系统检查诊断为阴茎阴囊转位胎儿的二维及三维超声声像图，并与引产后生殖器外观形态进行对比，找出胎儿阴茎阴囊转位的声像图特征及可能导致发育异常的因素。结果10例胎儿足月生产6例，家属选择引产4例。生后经小儿外科医师会诊检查均证实为阴茎阴囊转位，10例均为部分性阴茎阴囊转位，并同时合并尿道下裂，其中3例合并肛门闭锁，足月生产6例中2例合并隐睾。6例母体早孕期间行黄体酮或地屈孕酮保胎治疗。胎儿阴茎阴囊转位有典型的声像图特征：胎儿外生殖器形态失常，阴囊分离，阴茎短小并下弯，阴茎位于分离阴囊中间或下方。可通过实时超声观察胎儿喷尿尿流走向，确定尿道口的大体位置，估测尿道下裂类型。结论胎儿阴茎阴囊转位具有典型的声像图特征，产前超声对阴茎阴囊转位的诊断和鉴别诊断提供了可靠的诊断依据，该畸形与孕期应用保胎药物有一定联系。%Objective To observe the ultrasonic characteristics and their value of antenatal diagnosis of fetal penoscrotal transposition.Method Ultrasonograms of 10 fetuses diagnosed of penoscrotal transposi-tion with conventional and three-dimensional prenatal ultrasound were analyzed,and the characteristics were discussed.The prenatal characteristics were summarized by ultrasound and compared with those of antopsy.To analyze the ultrasonic characteristics and discuss the factors that may lead to developmental abnormalities.Results Of 10 tetuses,6cases of full-term were born,4 cases were induced labor.10 were proved to have penoscrotal transposition after physical examination,all of them were incomplete and ac-companied with hypospadias.3 were accompanied anal atresia.2 were accompanied cryptorchidism in which were born of full-term.6 matrixes once accepted tocolytic therapy with progesterone during early pregnan-cy.T he ultrasonographic features of fetal penoscrotal transposition can display abnormal anatomy of fetal genitalia,such as small penises with chordee,or penises that are localized between or below separated scrotum.Real-time ultrasound can be applied to observe the flow of fetal urination,and thus identify the probable site of urethral meatus and infer the type of hypospdias.Conclusions Fetal penoscrotal transpo-sition has some ultrasonic characteristics Therefore,prenatal ultrasound provides the reliable basis for di-agnosis and differential diagnosis of fetal penoscrotal transposition,that is,to some extent,associated with tocolytic drug use during pregnancy.
  • 摘要：Objective To explore the correlation of bone alkaline phosphatase (BALP)level and activi-ty,serum calcium,phosphorus in cord blood with fatal shortened long bone deformity.Method A total of 23 fetuses with shortened long bone deformity (observation group)and 23 normal fetuses (control group)were chosen.The level and activity of BALP,serum calcium and phosphorus in cord blood,and the level and activity of BALP,serum calcium in mother were examined and compared.Results BALP levels and serum phosphorus in observation group were markedly lower than that in control group (P <0.05),while serum calcium in control group was markedly higher than that in control group (P <0.05). There was no significant difference in BALP activity between two groups (P >0.05).The level and activi-ty of BALP in cord blood of observation group were markedly higher than that in his mother (P <0.05). There was no significant difference in the level and activity of BALP,serum calcium in mother between two groups (P >0.05).Conclusions The metabolism of calcium and phosphorus in the fetus with short-ened long bones were abnormality.The decrease of BALP level may be an important factor in the develop-ment of the fetal with shortened long bones.%目的：探讨脐血骨碱性磷酸酶（bone alkaline phosphatase，BALP）水平、活性、血清钙、血清磷与胎儿短长骨畸形的关系。方法选择短长骨畸形胎儿23例（观察组），正常胎儿23例（对照组），检测两组胎儿脐血 BALP 水平、活性、血清钙、磷及母体血 BALP 水平、活性、血清钙并进行比较。结果观察组 BALP 水平、血清磷显著低于对照组，血清钙显著高于对照组，其差异均有统计学意义（P ＜0．05）；但两组脐血 BALP 活性比较无显著性差异（P ＞0．05）；BALP 水平及活性高于母体血，其差异均有统计学意义（P ＜0．05）；两组母体血 BALP 水平与活性、血清钙比较无显著性差异（P ＞0．05）。结论短长骨畸形胎儿的钙磷代谢出现异常，BALP 水平降低可能是胎儿短长骨畸形发生的重要原因。
  • 摘要：参考文献按GB771487《文后参考文献著录规则》采用顺序编码制著录，依参考文献在正文中首次出现的先后顺序用阿拉伯数字加方括号以角码注明，并按引用先后顺序排列于文末，一般不超过15篇。各条项目之间的符号（“，”和“．”等）必须按要求使用（见下面的例子），三个以上作者保留3位再加“，等”（中文文献）或“，et al”（英文文献）；
  • 摘要：该文章发表于2013年1月的《Iran J Report Med））上。一直以来，彩色多普勒是评估宫内生长受限（IUGR）胎儿缺氧的方法，该研究则比较研究了胎儿和母体多普勒及血气分析两种方法诊断胎儿酸中毒的有效性。该研究比较了100位住院治疗的IU—GR患者的彩色多普勒结果和动脉血气分析结果，同时用彩色多普勒检测胎儿大脑中动脉、脐动脉、母体子宫动脉和新生儿脐动脉血气。
  • 摘要：Objective we analyzed the success rate,effectiveness,safety and complications of these in-vasive diagnostic techniques.Method Summarized all invasive prenatal diagnostic surgical cases of Ab-dominal CVS,amniocentesis and umbilical vein puncture of Guangxi MCH genetic clinics from January 2010 to December 2012.Results Three kinds of invasive prenatal diagnostic techniques can safely and ef-fectively prevent birth defects,amniocentesis with the highest success rate,There is no significant differ-ence in the miscarriage rate.Conclusions Invasive prenatal diagnosis can safely and effectively prevent birth defects,and could be widely applied.%目的：了解3种侵入性产前诊断技术的成功率、有效性、安全性及其手术并发症。方法总结2010年1月至2012年12月广西壮族自治区妇幼保健院优生遗传门诊所进行的经腹绒毛穿刺、羊水穿刺、脐静脉穿刺手术病例，对其进行回顾性分析。结果3种侵入性产前诊断技术均能安全、有效地预防出生缺陷，羊水穿刺一次成功率最高，但流产率无显著性差异。结论侵入性产前诊断技术能安全有效地预防出生缺陷，值得推广。
  • 摘要：目的：通过超声测量合并母体孕期高血压综合征的胎儿胸腺横径和前后径，评估胎儿胸腺发育和妊娠母体高血压综合征之间的相关性。方法选取2012年12月～2013年12月于本院临床诊断为妊娠高血压综合征孕妇30例归入观察组，同时随机选取100例 18-40周孕妇归入对照组，取两组胎儿三血管切面胸腺横径、前后径测值，对照组参数行线性回归分析，两组胎儿胸腺横径、前后径均值分别行t 检验，以 P ＜0．05为具有显著差异性。结果对照组胎儿胸腺横径和孕周回归方程为Y ＝0．139X －1．173，R 2＝0．796，P ＜0．05；对照组胎儿胸腺前后径和孕周回归方程为Y ＝0．49X －0．176，R 2＝0．813， P ＜0．05，两组参数胎儿胸腺横径、前后径均值分别行 t 检验，P ＜0．05。结论胎儿胸腺超声测值在母体合并妊娠期高血压综合征时小于相应孕周正常妊娠胎儿胸腺测值95％置信区间，胎儿胸腺发育和母体妊娠期高血压综合征具相关性。%Objective Measure the transverse diameter,the anteroposterior diameter of fetal thymus through ultrasound,to assess the correlation between fetal thymus development and hypertension syn-drome of pregnancy.Method 30 cases of patients diagnosed as hypertension syndrome of pregnancy in our hospital from December 2012 to December 2013 were put into the observation group,while 100 cases were selected into the control group randomly.The transverse diameter and the anteroposterior diameter were measured in the three vessel view,The control parameters were analyzed by linear regression analysis, mean of two groups parameters were tested by t test respectively,P <0.05 was considered significant. Results The regression equation of fetal thymus transverse diameter and GA is:Y =0.139X -1 .173,R2=0.796,P <0.05 ;the regression equation of fetal thymus anteroposterior diameter and GA is :Y =0.49X-0.176,R2 =0.813,P <0.05 ;Mean of two groups t test get P <0.05 .Conclusions Fetuses whose mother are accompanied with hypertension syndrome of pregnancy ,their thymus measurement are less than those of the same GA fetal thymus measurement,there are correlation between fetal thymus develop-ment and hypertension syndrome of pregnancy.
  • 摘要：目的：探讨脊髓性肌萎缩症（SMA）、苯丙酮尿症（PKU）和先天性软骨发育不全（ACH）产前基因诊断的高效的临床检测方法。方法根据不同单基因病的基因突变类型，本研究应用 DHPLC 技术对1例 SMA 阳性家族史的胎儿绒毛样本进行 SMN1基因7号外显子缺失检测，选择正常人及 SMA 患者作对照。通过直接测序法分别对 PKU 家系和 ACH 家系的患者、表型正常的个体及其胎儿进行 PAH致病基因和 FGFR3基因第10外显子进行检测。结果SMA 阳性家系中，胎儿未检测到 SMN1基因7号外显子的纯合缺失，建议继续妊娠，结果顺利产出1名正常儿。PKU 阳性家系通过检测发现患者在PAH 基因上确实存在无义突变，c．781C＞T（p．Arg261Ter）和错义突变 c．842C＞T（p．Pro281Leu），均为杂合子。但是胎儿与患者母亲的突变类型一致，为携带者，不发病，建议继续妊娠。软骨发育不全患者送检标本 FGFR3基 因 外 显 子10发现1处序列异常，为 c．1138G ＞ A，导致编码氨基酸改变Gly380Arg，但其胎儿羊水标本检测 FGFR3基因外显子10未发现序列异常。结论根据单基因病不同的基因突变类型，选择合适的方法可快速、准确地实现单基因病产前基因的诊断，尽早避免单基因病患儿的出生。%Objective To investigate methods for prenatal diagnosis of spinal muscular atrophy (SMA), PKU and achondroplasia (ACH).Method Different test methods are applied based on different muta-tional pattern.The chorionic villus of 1 fetus with SMA positive family history was collected.The exon 7 of telomeric survial motor neuron (SMN1)gene was detected by DHPLC.Normal member and SMA pa-tient were selected as controls.The hot mutation in exon 10 of FGFR3 gene and PAH gene were detected by DNA sequencing in patients,normal phenotype individuals and pregnancy fetus.Results ‘Homozy-gous deletion of the SMN1 exon7 wasn′t detected in pregnancy fetus.The pedigree diagnosed as negative continued to pregnancy,and gave birth to a normal baby.c.781C>T (p.Arg261Ter)and c.842C>T (p. Pro281Leu)mutations of PAH gene were detected in patient with PKU positive family history.Fortunate-ly,Sequencing analysis revealed the fetus shows the mutation of PAH gene as same as his mother c.842C>T (p.Pro281Leu).The pedigree diagnosed as carrier continued to pregnancy.The mother of the fetus diagnosed as achondroplasia had G1138A mutation,but the fetus had normal nucleotide at nucleotide 1138 in exton 10 of FGFR3,therefore were excluded from achondroplasia.Conclusions The application of dif-ferent test methods is efficient and practical ways in different monogenic disease.
  • 摘要：目的：探讨胎儿先天性白内障的产前遗传咨询，产前诊断方法，评估胎儿预后。方法临床中及文献报道的胎儿先天性白内障病例分析。结果已知的先天性白内障相关基因不一定对应致病表型，先天性白内障具有高度的遗传异质性，基因型和表型的关系还有待于探讨。结论目前产前超声是诊断胎儿先天性白内障的唯一影像学检查手段，可对胎儿期白内障进行筛查。先天性白内障的治疗提倡早诊断、早治疗。
  • 摘要：该文章发表于2014年的《European Journal of Obstetrics＆Gynecology and Reproductive Biolo—gy》上。众所周知，在慢性或急性应激（如缺氧或子宫一胎盘功能不良）时，胎儿脑保护效应会维持胎儿脑部血管血流，而该研究则探讨了孕妇姿势改变是否会引起胎儿脑保护效应出现。该研究采集了23位孕妇在36~40周之间的仰卧位和左侧卧位的胎儿大脑中动脉和脐动脉的血流波形图，并记录其搏动指数、收缩压／舒张压指数以及收缩期峰值血流速度。
  • 摘要：Objective Exploring the position,clinical characteristics and prognosis of digestive tract atresia.Method The clinic data of 161 cases with congenital digestive tract atresia was retrospectively an-alyzed,the data obtained from Neonatology of Boai hospital of Zhongshan during May 2005 to January 2014.Results All the 161 cases including 35 cases of esophageal atresia,53 cases of intestinal atresia and 77 cases of anal atresia.For three kinds of digestive tract atresia,surgery survival rates were 72.7%,85 . 7% and 88.7%,the Ultrasound detection rates were 16.7%,28.2% and 10%,and the rates of newborn with other congenital malformations were 45 .7%,35 .8% and 28.6%.Conclusions Congenital digestive tract atresia is a common gastrointestinal malformations,early diagnosis and surgery is critical for progno-sis.The prenatal ultrasound detection rates of congenital digestive tract atresia is still low.Gastrointesti-nal aresia,sepecially esophagus atresia,merging high proportion of other congenital malformations.%目的：探讨新生儿先天性消化道闭锁的部位、临床特点及预后。方法回顾分析中山市博爱医院新生儿科2005年5月至2014年1月期间新生儿科161例消化道闭锁病例的临床资料及其随访结果。结果161例病例中，食管闭锁35例、肠闭锁53例、肛门闭锁77例。食管闭锁、肠闭锁和肛门闭锁的手术存活率分别为72．7％、85．7％和88．7％，超声检出率分别为16．7％、28．2％和10％。45．7％食管闭锁、35．8％肠闭锁和28．6％肛门闭锁患儿合并其他先天畸形。结论先天性消化道闭锁是新生儿时期常见的消化道畸形，早诊断、早手术是预后关键。消化道闭锁的产前超声检出率不高。消化道闭锁，特别是食管闭锁，合并其他先天畸形的比例较高。
  • 摘要：1．摘要论著性文章需附中、英文摘要，均为500字（词）以上。摘要必须包括目的、方法、结果（列出主要数据）、结论4部分，各部分冠以相应的标题。英文摘要应包括文题、文中所有作者姓名（汉语拼音）、单位名称、所在城市及邮政编码，其后加列国名。2．关键词论著需分别在中、英文摘要后标引2～5个中、英文关键词。请尽量使用美国国立医学图书馆编辑的最新版《Index MediCUS》中医学主题词表（MESH）内所列的词。
  • 摘要：照（图）片每3张图单独占1页，集中附于文后，分别按其在正文中出现的先后次序连续编码。每张照（图）片均应有必要的图题及说明性文字置于图的下方，并在注释中标明图中使用的全部非公知公用的缩写；图中箭头标注应有文字说明。大体标本照片在图内应有尺度标记，病理照片要求注明特殊染色方法和高、中、低倍数。照片要求有良好的清晰度和对比度，并在背面标明图号、作者姓名及图的上下方向。说明文字应简短，不应超过50字，所有的图在文中相应部分应提及。
  • 摘要：现在常用的侵入性产前诊断方法能就胎儿是否有问题给予孕妇一个肯定的答案，但因其具有有创性，会有0．5％～1％的可能性至胎儿流产，所以我们不可能要求每个孕妇进行这些检查。非侵人性产前诊断主要就是利用孕妇血清中游离胎儿DNA片段，早在1997年的《Lancet》杂志就发表了一篇文章，文章中提到怀有男胎的孕妇的血清和血浆里其实可以找到Y染色体的信号，第一次证明了其实孕妇血清里面含有很多胎儿的DNA片段，依此我们就可以进行很多产前诊断，譬如说胎儿性别的鉴定等。该视频就从多个角度介绍了NIPT在产前诊断中的应用。
  • 摘要：该文章发表于2012年2月的《Ultrasound Ob—stet Gynecol》上。该研究是一项回顾性队列研究，主要目的是证明尽早分娩能改善彩色多普勒有异常结果的宫内生长受限胎儿的预后。该研究回顾了1999年1月到2009年7月在奥地利维也纳医科大学出生的110位IUGR胎儿，产前超声提示胎盘功能不良，出生体重〈1500g。根据产前的多普勒超声将其分为3组，组一是脐动脉（uA）搏动指数（PI）大于正常值的两个标准差或出现舒张期脐动脉血流缺失，同时合并胎儿大脑中动脉（MCA）的搏动指数位于正常值范围内（平均值±2个标准差）；

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