百色地区孕妇地中海贫血的产前筛查及产前诊断

目的为预防和控制广西百色市地中海贫血重症患儿的出生,对产前检查的孕妇进行地中海贫血的筛查及基因突变分析,对高风险的胎儿进行产前诊断。方法采用红细胞平均体积、红细胞脆性试验及血红蛋白电泳三项联合测定对1840例孕妇进行地中海贫血的筛查。结果检出地中海贫血334例,发生率18.15%,其中α地中海贫血210例,发生率为11.41%,β地中海贫血124例,发生率6.74%。270例确定了基因型,对22对夫妇均为地贫携带者的胎儿进行产前诊断,6例为正常胎儿,4例为a杂合子,1例为HbH病、3例为Bart′s水肿;1例β地贫纯合子,3例为β地中海贫血双重杂合子,4例为β地中海贫血杂合子。结论通过产前筛查地中海贫血及基因诊断,确诊了重症患儿并及时终止妊娠,有效避免重症患儿的出生,提高人口素质具有重要意义。     

胎儿肠梗阻的产前诊断和临床预后

目的探讨胎儿肠梗阻产前诊断的临床意义.方法本文应用超声产前诊断89例胎儿肠梗阻患者,向其交代可能的预后,如患者选择引产放弃胎儿,则对患儿尸体进行解剖验证;如选择继续妊娠患者,定期随访,严密监测,必要时行新生儿腹部X线平片拍摄和钡灌肠造影,检查是否存在梗阻部位和梗阻类型,诊断明确后行手术或保守治疗.分娩后取胎儿脐带血进行胎儿染色体分析.结果 1.89例产前发现胎儿肠梗阻患者,产后证实为消化系统畸形66例(74.16%),伴羊水增多47例.具体表现为:十二指肠病变为17例,16例合并羊水增多(94.12%);小肠病变41例,30例合并羊水增多 (73.17%);大肠病变8例,1例并发羊水增多 (12.5%).2.23例 (25.84%) 新生儿未发现异常表现.3.6例为多发畸形(9.09%),5例合并染色体异常(9.26%).结论产前诊断胎儿肠梗阻,并给予严密监护和正确的临床管理,对优生优育及出生后早期、及时治疗具有重要临床指导意义.     

胎儿多囊性肾病变的产前诊断和临床分析

目的探讨胎儿肾脏多囊性病变的原因和临床意义。方法本文对59例产前超声发现胎儿肾脏多发囊性病变患者进行临床管理,向患者交代可能的预后,让其知情选择,如患者选择终止妊娠放弃胎儿,则对患儿尸体进行解剖验证,并引产后取脐血进行染色体分析;如选择继续妊娠患者,定期随访,严密监测。结果1.59例患者产前诊断为多囊性肾病变,其中多囊性肾发育不良40例（27例选择了终止妊娠放弃胎儿,其中1例合并染色体异常,2例伴其他部位畸形;13例患者选择了继续妊娠,分别于出生后3个月至2.5岁时因并发症出现而选择患侧肾脏切除）;婴儿型多囊肾6例（2例合并多囊肝,1例染色体为21三体。4例选择终止妊娠放弃胎儿,病理证实为婴儿型多囊肾。另2例患者选择继续妊娠,其中1例患儿于新生儿期死亡,另1例患儿于出生后13个月死亡）;成人型多囊肾10例（染色体均正常。3例选择终止妊娠放弃胎儿,1例于新生儿期死亡;1例于出生后7个月死亡,其余5例目前临床无不适症状,正严密观察中）。2.3例胎儿肾多发囊肿患者,均为单侧肾脏发病,其中1例选择终止妊娠放弃胎儿,另1例患儿出生后1岁时行患侧肾切除术,另1例现已经生后11个月,没有任何临床症状,复查肾脏囊肿与出生前没有明显改变。结论胎儿肾脏多囊性病变类型多样,病因不尽相同,临床结局也不相同,建议产前仔细鉴别胎儿肾脏囊肿类型,根据囊肿类型对胎儿可能的预后给予产前合理评价及咨询意见。     

Prenatal diagnosis of fetal seizure: a case report

A 35-yr-old woman carrying a 17-week-old fetus presented with right hydronephrosis and a single umbilical artery. Karyotyping was normal and targeted ultrasonography showed an otherwise normal fetus. After 28 weeks of gestation, the mother felt rapid, repetitive fetal movement and an ultrasound at 30 weeks of gestation revealed tonic clonic movements of the fetal trunk and extremities. At 36 weeks of gestation, an emergency repeat Cesarean section was performed because of a premature rupture of the membranes and a male infant weighing 4,295 gm was delivered. After birth, the infant continued to have movements suggestive of a generalized tonic clonic seizure. Brain computed tomography and magnetic resonance imaging revealed normal structures and an electroencephalography showed generalized suppression. Treatment with phenobarbital resulted in substantial improvement in the number of seizure episodes, however fine seizure-like movement continued in both of the hands, feet and in the tongue until the five-month follow-up. This is the first Korean report of a fetal seizure being diagnosed during the prenatal period.     

26例胎儿先天性心脏畸形的产前诊断及临床分析

目的了解胎儿先天性心脏畸形的类型,分析胎儿先天性心脏畸形合并心外畸形及染色体异常的发生率。方法回顾性分析产前超声发现胎儿先天性心脏畸形,且经过产前染色体检查及产后病理解剖证实的26例病例。结果发现10种类型的胎儿先天性心脏畸形,其中室间隔缺损的发生率最高,达57.2%,有4例单纯一种心脏畸形（15.4%）,11例多发心脏畸形（42.3%）,15例合并心外畸形（52.7%）,12例合并染色体异常（46.2%）。结论胎儿期发现的先天性心脏畸形的类型一般较为严重,发生多种心脏畸形的机率较高,合并心外畸形和染色体异常的发生率也较高。     

Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism

In a family at risk for Langer mesomelic dwarfism, we document the onset of disproportionate growth in the second trimester by sonographic biometry. Midtrimester pathologic correlation of this condition demonstrates primary changes in the growthplate in the regions of proliferating cartilage and hypertrophic and degenerative chondrocytes.     

Prenatal diagnosis of fetal trisomy 21 from maternal peripheral blood

This study was undertaken to establish a noninvasive prenatal genetic diagnostic method for trisomy 21 using the fetal nRBCs that is rarely present in maternal circulation. Peripheral venous blood samples were collected from 30 women with an advanced maternal age, abnormal triple marker test results, or abnormal ultrasound findings such as an increased nuchal translucency. The blood samples were treated with heparin. The triple density gradient centrifugation, and MACS using CD45 and CD71 were used to isolate the fetal cells. FISH analysis using probe 21 was performed with GPA-immunostaining. The study population consisted of 30 patients from 13 to 25 weeks of gestation, and nRBCs were separated in all cases. In GPA-immuno FISH analysis using probe 21, 3 cases of trisomy 21 were diagnosed and these results were confirmed by the amniocentesis. In conclusion, a prenatal diagnosis of trisomy 21 through GPA- immuno fluorescence in situ hybridization (FISH) analysis using separated fetal nRBCs is a useful, innovative, accurate, rapid and non-invasive diagnostic method.     

应用Yagel式快速心脏检查法产前筛查先心病的价值研究

目的探讨Yagel式胎儿心脏快速扫描法在胎儿心脏产前诊断中的价值。方法病例选自2002年以来在中国医科大学附属盛京医院、沈阳市妇婴医院、大连妇产医院和锦州市妇婴医院就诊的孕妇7394例,均为单胎妊娠,其中先天性心脏畸形（CHD）高危患者1276例。应用Yagel5个心脏横面检查方法进行胎儿心脏快速检查,并对引产胎儿进行尸体解剖核对产前诊断的正确性;对产前诊断未发现明显异常胎儿进行临床随访,胎儿出生后进行新生儿或婴儿心脏超声检查,判定产前诊断的正确性。结果 1.7394例孕妇中,检查发现胎儿心脏结构异常为79例（1.07%）,其中31例（39.2%）患者来自于CHD高危人群。2.79例产前诊断为CHD患者中,72例选择了终止妊娠放弃胎儿,其中56例进行尸体解剖,其中1例患者病理诊断为永存动脉干畸形,产前诊断为法洛四联症;1例右心室双流出道,产前诊断为大动脉转位;1例为部分型肺静脉异位引流,产前诊断为左心发育不良;1例为主动脉缩窄,产前诊断为左心发育不良。3.79例产前诊断为CHD患者中,7例选择继续妊娠,其中室间隔缺损（VSD）3例,法洛四联症1例,永存动脉干1例,右心室占位病变（0.8cm×0.8cm）1例,轻度肺动脉狭窄伴三尖瓣返流1例。4.6118例产前诊断为正常胎儿心脏患者,新生儿或婴儿心脏超声检查发现室间隔缺损2例（0.03%）;动脉导管未闭2例;房间隔缺损1例;部分肺静脉异位引流1例,主动脉轻度狭窄1例,肺动脉轻度狭窄1例。5.应用Yagel胎儿心脏检查方法诊断胎儿心脏异常的敏感性为90.8%,特异性为100%。结论 1.Yagel式胎儿心脏快速扫描法是产前诊断胎儿心脏畸形的安全、简单和有效方法。2.对所有人群进行胎儿心脏结构产前检查,减少严重心脏病患儿的出生,具有重大的社会和经济意义。     

彩超引导胎儿心脏穿刺术取血用于产前诊断的意义评价

目的彩超引导下对脐静脉穿刺术困难经腹胎儿心脏穿刺术取胎血检测胎儿染色体核型等产前诊断。方法使用22G穿刺针对6例胎儿超声心动图检出心脏异常的胎儿脐血穿刺失败后在彩超引导下心脏穿刺术抽取胎血检测,平均孕周31.5w,孕妇平均年龄29.5岁,术前超声检查见心脏畸形或扩大外伴羊水过多或过少。结果6例均成功穿刺取血,术后1例出现心包积液,5例出现心动过缓,心率30~80/m in,持续时间4~8m in。胎血细胞培养成功5例,检出染色体异常核型13-三体1例。结论当脐静脉穿刺困难时可行胎儿心脏穿刺术,彩超引导可清晰显示胎儿心内血流变化并缩短穿刺时间。胎儿心脏穿刺术有一定的风险性应慎重选择病例。该技术可用于为未来的胎儿基因治疗。     

Prenatal diagnosis of fetal trisomy 6 mosaicism and phenotype of the affected newborn

The first case of a fetal trisomy 6 mosaicism proven at 25 weeks of gestation by analysis of fetal urine cells is described. Chromosomal analysis was indicated by an ultrasonographically diagnosed heart defect at 21 weeks of gestation. The chromosomal aberration was detected in amniotic fluid cells while fetal blood cells showed a normal chromosome set. At term a boy with normal growth parameter was born. In addition to the expected heart defect, malformations of hands and feet were present.     

产前诊断胎儿泌尿系统畸形与染色体1q21.1微缺失

目的 应用微阵列比较基因组杂交技术探讨胎儿先天性泌尿系统畸形的遗传学病因.方法 选取32例经产前超声检查提示发生不同程度泌尿系统畸形并且常规G显带核型分析方法未发现异常的胎儿病例及其父母的DNA,按照标准的Affymetrix cytogenetic 2.7M芯片的操作手册进行杂交、洗涤及全基因组扫描,应用配套的CHAS软件分析结果.结果 微阵列比较基因组杂交技术检测发现9例胎儿基因组发生了不平衡的拷贝数变异(copy number variations,CNVs),检出率为28％.其中4例CNVs遗传自亲代(12.5％);2例CNVs在相关数据库中提示在正常人基因组中存在(6％);3例是新发的致病性CNVs(9％),并且这3例胎儿样本均发生了染色体1q21.1微缺失和微重复,异常片段内包含与泌尿生殖系统功能密切相关的PDZK1基因.结论 先天性泌尿系统畸形胎儿基因组发生不平衡畸变的几率约为28％,其中致病性的基因组不平衡异常约占9％.染色体1q21.1区带DNA拷贝数改变是导致先天性泌尿系统畸形的病因之一,其致病机制可能与PDZK1基因的异常表达有关.     

Prenatal diagnosis of fetal double aortic arch: report of a case

Double aortic arch (DAA) is the most common congenital anomaly of the aortic arch system, in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches, often resulting in variable airway compression. We present a case of fetal DAA prenatally diagnosed by fetal echocardiography and clearly confirmed at autopsy. The autopsy visualization allowed for better understanding of this rare cardiac anomaly and facilitated improving the prenatal diagnostic rate.     

产前B超诊断48例胎儿畸形结果分析

目的探讨彩色多普勒超声在胎儿畸形中的诊断价值。方法利用彩色多普勒超声诊断仪对不同妊娠孕周孕妇进行产前检查,查出胎儿畸形与产后或引产胎儿结果对比,分析超声检查的诊断价值。结果超声确诊的胎儿畸形产后或引产胎儿结果相吻合。结论彩色多普勒超声检查可动态观察胎儿脏器结构,可重复性强,诊断率高,是筛查胎儿畸形较为可靠的影像学检查方法。     

妊娠中期胎儿染色体病的产前诊断

目的探讨羊水细胞染色体核型分析在妊娠中期产前诊断胎儿染色体病中的必要性和安全性。方法1982年1月至2007年9月天津医科大学总医院1531例符合产前诊断指征的孕妇,于妊娠19-26周在B超引导下进行羊膜腔穿刺取羊水15-20ml,羊水细胞培养G显带进行羊水细胞染色体核型分析。结果1531例羊水细胞培养成功1492例,成功率为97.45%（1492/1531）;1492例羊水染色体核型分析,异常核型45例,异常率为3.02%（45/1492）,其中染色体数目异常21例（46.67%,21/45）,主要是21-三体综合征（10例）和18-三体综合征（5例）;染色体结构异常24例（53.33%,24/45）,异常核型的人群分布以唐氏综合征筛查高风险为主（84.44%,38/45）;遗传多态性3例;胎儿丢失率为0.65‰（1/1531）,胎死宫内率为1.31‰。羊水染色体异常核型分析结果与随访结果一致。结论羊水细胞染色体核型分析是必要的、安全可靠的,在产前诊断染色体病中起着不可替代的作用。     

Prenatal diagnosis of chromosome abnormalities in the presence of fetal structural defects

A chromosomal abnormality was found in 42 (10.9%) out of 386 fetuses with a structural defect. Thirty-five of these were diagnosed prenatally, following ultrasonic detection of one or more structural anomalies and associated pathology such as marked intrauterine growth retardation and polyhydramnios. Termination of pregnancy was carried out in 16 fetuses aged less than 26 weeks, intrauterine and neonatal death occurred in 20 cases, the remaining 6 infants were alive at 3 months. The poor outcome in these pregnancies emphasizes the need for prenatal chromosome analysis in the presence of a fetal structural defect.     

Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia

Prenatal diagnosis (PD) is available to families affected with propionic acidemia (PA), however, it entails a risk of miscarriage. Fetal DNA circulating in maternal blood could allow performing a safe prenatal diagnosis of fetal mutations. Exclusion of the paternal mutation in maternal plasma may avoid conventional PD in cases of recessive disorders such us PA. In this work, we have correctly diagnosed in maternal plasma the status of a fetus at risk of PA for the paternal mutation.     

产前超声诊断胎儿肢体畸形的技术探讨

目的　探讨通过产前超声提高胎儿肢体畸形诊断率的操作技巧。 方法　采用连续顺序追踪法对2014年1月至2015年1月142,17例孕16～37周孕妇常规行胎儿肢体超声成像。 结果　全部胎儿中发现肢体畸形41例,检出率为0.28%,其中包括肢体大部分缺失1例,肢体部分缺失4例,桡骨缺失6例,马蹄内翻足9 例,裂手畸形2例,腓骨缺失2例,多指（趾）2例,羊膜束带综合征2例,手姿势异常4例,先天性多发性关节挛缩2例,并腿畸形3例,严重短肢畸形4例。漏诊16例,占所有畸形的28%,包括7例并指畸形,5例多指（趾）畸形,4例重叠指,误诊2例马蹄内翻足,均经引产或出生后证实。 结论　产前超声能直观显示胎儿肢体结构,是诊断胎儿肢体畸形的首选方法,熟练的操作技术及操作技巧是产前超声诊断胎儿肢体畸形的关键。     

产前系统超声检查与三维/四维在胎儿畸形诊断中的意义

目的探讨二维产前系统筛查联合四维超声对产前诊断胎儿畸形的临床价值。方法我院2010年1月～2011年2月采用二维超声对11 230例孕妇,在孕22-26周进行产前系统筛查,其中汉族6170人,维吾尔族5060人,对疑似有胎儿畸形的孕妇联合应用四维超声进行诊断,并根据引产或胎儿出生后的随访结果评价其诊断率。结果 11 230例孕妇共娩出11 280(其中双胎50例)胎儿,经单纯二维超声发现畸形365例,二维与四维联合诊断的畸形391例,该组经临床证实共有的畸形407例,联合诊断的符合率为96.1%,显著高于单纯二维89.6%,P<0.05。结论二维超声是诊断胎儿畸形的首选检查方法,四维超声可动态观察胎儿体表畸形的部位,两者联合应用可以大大提高产前胎儿畸形的诊断率,有效降低出生缺陷,值得临床推广。     

彩超引导胎儿心脏穿刺术取血用于产前诊断的意义评价

目的彩超引导下对脐静脉穿刺术困难经腹胎儿心脏穿刺术取胎血检测胎儿染色体核型等产前诊断。方法使用22G穿刺针对6例胎儿超声心动图检出心脏异常的胎儿脐血穿刺失败后在彩超引导下心脏穿刺术抽取胎血检测，平均孕周31．5w，孕妇平均年龄29．5岁，术前超声检查见心脏畸形或扩大外伴羊水过多或过少。结果6例均成功穿刺取血，术后1例出现心包积液，5例出现心动过缓，心率30—80／min，持续时间4—8min。胎血细胞培养成功5例，检出染色体异常核型13-三体1例。结论当脐静脉穿刺困难时可行胎儿心脏穿刺术，彩超引导可清晰显示胎儿心内血流变化并缩短穿刺时间。胎儿心脏穿刺术有一定的风险性应慎重选择病例。该技术可用于为未来的胎儿基因治疗。