胎儿染色体异常与产前超声特征的相关性研究

目的探讨胎儿染色体异常与产前超声特征的关系。方法收集我院2005年1月至2009年12月经产前诊断出的53例染色体异常胎儿,与产前超声检查出的异常征象进行对比性分析,统计染色体异常胎儿的检出类型与超声畸形谱,并对染色体异常的胎儿进行术后或出生后随访。结果共有510例羊水和脐带血样本进行染色体检查,检出异常核型53例,阳性率为10.2%。其中,染色体数目异常32例,包括21-三体15例,18-三体11例,13-三体2例,45,XO单体2例,92,XXXX四倍体2例。染色体结构异常21例,包括易位4例,插入3例,倒位6例,缺失4例,衍生4例。染色体异常胎儿产前超声检查为明显结构畸形者占41.5%(22/53);结构畸形合并超声软标记者占34.0%(18/53);单独检出超声软标记者占15.1%(8/53)。结论胎儿产前超声检查异常与染色体异常关系密切。染色体异常胎儿产前超声常表现为各种明显结构畸形,畸形数越多,染色体异常的风险越大,出现超声软标记时胎儿染色体异常的风险也将增加。了解各种类型的染色体异常的超声畸形谱,对产前识别高风险胎儿,提高侵入性操作的阳性率,减少漏诊有重要意义     

产前胎儿颈后透明层和颈后皮褶厚度联合母体血清学检测筛查胎儿染色体异常的临床价值

目的探讨产前超声软指标（USM）颈后透明层（NT）与颈后皮褶厚度（NF）联合母体甲胎蛋白（AFP）与绒毛膜促性激素β亚单位（β-HCG）检测筛查胎儿染色体异常的临床价值。方法选取2013年4月-2015年3月在该院产检的2 402 例孕妇为研究对象,依据染色体异常情况,分析孕妇孕期超声软指标NT、NF及其血清学检测结果与胎儿染色体异常的关系。结果2 402 例孕妇中,单一血清学筛查为高风险者198 例,单一USM高风险者76 例,两者并存高风险43 例,共检出34 例染色体异常胎儿。其中若单依据血清学筛查,其敏感性80.0%、特异性91.0%;若单依据USM 筛查,其敏感性57.1%、特异性95.8%,若联合两者进行筛查,其敏感性97.1%、特异性99.6%。结论超声软指标NT、NF 与血清学筛查联用有助于提高染色体异常胎儿早期筛查的敏感性及特异性。     

孕早期胎儿颈项透明层增厚对染色体异常产前筛查价值的Meta分析

目的:探讨孕早期胎儿颈部透明层(NT)增厚在产前超声筛查染色体异常(特别是21-三体综合征)中的价值.方法:检索Cochrane图书馆、PubMed、OVID、Springer数据库、中国期刊网和中国生物医学文献数据库(1990年1月至2008年8月)中的中英文文献,按照诊断试验的纳入标准筛选文献,收集所有相关的诊断试验文献,应用Meta-DiSc 1.4软件对符合条件的研究结果进行Meta分析.结果:共纳入文献14篇,检查胎儿共计162 992人.11篇文献对孕早期胎儿NT≥第95百分位对染色体异常的诊断价值进行了分析,汇总灵敏度、特异性和曲线下面积(AUC)分别为78.8%、92.1%和0.891;12篇文献对孕早期胎儿NT≥第95百分位对21-三体综合征的诊断价值进行了分析,汇总灵敏度、特异性和AUC分别为81.3%、92.6%和0.883.结论:孕早期NT增厚对染色体异常(特别是21-三体综合征)产前诊断的敏感性、特异性和诊断的准确性均较高,可用于孕早期染色体异常的产前筛查.     

超声规范化切面对产前胎儿畸形筛查的价值探讨

目的:探讨超声规范化切面对产前胎儿畸形筛查的价值。方法:回顾性分析产检的3 420例孕妇的超声检查资料,观察超声规范化切面特征。结果:接受超声检查的3 420例孕妇中,共检出畸形胎儿23例,畸形发生率为0.67%,与产后诊断符合率为100%。超声检查漏诊1例,所有畸形胎儿的超声切面图均有改变。结论:超声规范化切面对胎儿畸形的筛查准确率较高,对产前筛查胎儿畸形,指导临床上进行宫内治疗或终止妊娠有着极其重要的意义和价值。     

胎儿静脉导管血流动力学检测在染色体异常筛查中的应用

目的：应用彩色多普勒超声检测胎儿静脉导管（DV）的血流频谱,探讨胎儿DV的血流动力学变化在染色体异常筛查中的应用。方法：采用彩色多普勒及脉冲多普勒超声检测产检指标正常组（320例,孕期11~40周）和产检指标异常组（48例,孕期11~35周）单胎胎儿的DV血流频谱,产检指标异常组需要进行胎儿染色体检查。观察胎儿的DV血流频谱波型（S波、D波和a波）,产检指标异常组结合染色体核型分析。结果：胎儿的正常DV血流频谱表现为同向三相波,异常DV血流频谱表现为a波反向或消失。对48例产检指标异常组的单胎胎儿进行染色体核型分析,其中染色体异常组12例（10例DV异常,2例DV正常）,染色体正常组36例（11例DV异常,25例DV正常）。染色体异常组中DV血流频谱异常检出率高于染色体正常组（χ²=9.723,P=0.002）。结论：胎儿DV血流频谱异常可增加胎儿染色体异常的检出率,超声检测可以作为早孕期染色体异常筛查的初步判断依据。     

产前胎儿超声筛查在胎儿畸形诊断中的应用价值

目的:探讨产前超声筛查对诊断胎儿畸形的应用价值。方法:按顺序分段法依次观察颅骨、颜面部、颈部、脊柱、胸腔、腹腔、四肢及心脏等。结果:37例胎儿畸形孕中期产前超声诊断30例,检出率81%,漏诊7例,漏诊率18.9%。结论:产前超声筛查对胎儿畸形有较高的诊断准确率,具有较高的临床意义,成为诊断胎儿畸形的有效方法之一。     

超声筛查胎儿潜在染色体异常指标的结果分析

目的胎儿潜在染色体异常指标与染色体异常相关性的探讨。方法对2009年11月至2011年4月来我院行胎儿超声产前筛查的2540例孕22～32周的胎儿进行回顾性分析,对潜在染色体异常指标的胎儿进行追踪观察至分娩前或出生后。结果胎儿心内强光斑210例,其中合并2例唇裂、1例右室双出口均引产及合并2例室间隔缺损出生后均无染色体异常面容,1例心内强光斑出生后诊断为21-三体儿;肠管强回声10例,合并1例心内膜垫缺损及1例右室双出口均于中孕期引产证实未合并染色体异常面容;肾盂扩张82例,均于出生后未见染色体异常面容;3例股骨短小,其中1例出生后证实为21-三体儿。1例后颅窝池增宽合并双侧唇裂、室间隔缺损,出生后为18-三体。结论胎儿潜在染色体异常指标的存在虽可增加胎儿染色体异常的风险,但需结合孕妇高危因素及生化指标,并追踪观察以降低假阳性率,避免假阴性。     

胎儿超声及染色体产前诊断对唐氏综合征产前筛查为临界风险的临床价值

目的 探讨中孕期唐氏综合征筛查为临界风险的胎儿超声及染色体检查的临床意义.方法 回顾性分析中孕期唐氏综合征产前筛查临界风险的2 281例胎儿超声检查结果,以低风险2 500例为对照,比较两组单发软指标、多发软指标、单发畸形、多发畸形等异常检出率.并分析其中1 332例知情选择羊膜腔穿刺术者胎儿染色体产前诊断结果.结果 ①临界风险组胎儿超声检查检出单发软指标异常696例(30.51％)、多发软指标异常118例(5.17％)、单发畸形18例(0.79％)、多发畸形7例(0.31％).低风险组检出单发软指标异常308例(12.32％)、多发软指标异常82例(3.28％)、单发畸形5例(0.20％)、多发畸形1例(0.04％).临界风险组各项异常检出率明显高于低风险组(P ＜0.05,P＜0.01).②选择羊膜腔穿刺术胎儿染色体产前诊断1 332例临界风险组中,合并单发软指标异常135例,多发软指标异常83例,单发畸形11例,多发畸形5例者胎儿染色体检查结果均正常.③1 332例临界风险组中检出常染色体结构异常10例,性染色体结构异常1例.异常检出率0.08％.其中,染色体平衡易位7例,臂间倒位3例,等臂染色体1例.9例系母系或父系来源,2例为新发突变.11例染色体结构异常的胎儿超声检查均无明显异常发现.结论 胎儿超声检查能为唐氏综合征临界风险孕妇的遗传咨询提供有价值的信息;唐氏综合征临界风险亦提示胎儿染色体结构异常风险增加.     

293例羊膜腔穿刺产前诊断孕中期胎儿染色体异常的研究

目的探讨羊膜腔穿刺产前诊断胎儿染色体异常的临床应用价值。方法在超声引导下,对293例有产前诊断指征的孕妇经腹抽取适量羊水,细胞培养,染色体核型分析,同时,对不同产前诊断指征组染色体异常的检出率进行比较。结果 293例均穿刺成功,培养成功287例(成功率97.95%),染色体异常检出15例(检出率5.1%);其中不良孕产史组染色体异常检出率(24.0%)明显高于唐氏高风险组(2.3%)及高龄组(3.80%)(P<0.05);超声显示胎儿结构异常组检出率(13.33%)亦明显高于唐氏高风险组(2.3%)(P<0.05)。结论羊膜腔穿刺产前诊断胎儿染色体异常是安全、有效的方法,能够减少出生缺陷;不良孕产史、超声示胎儿结构异常、孕妇血清学筛查及高龄均为有效的产前诊断指征,而不良孕产史及超声示胎儿结构异常更有预测价值。     

孕早期Down综合征(DS)的产前筛查

目的 :探讨孕早期Down综合征 (DS)的产前筛查。方法 :时间分辨荧光免疫法 (TRFIA)对孕 8～ 13周的 5 43 3例孕妇血清中 β hCG、PAPP A2两项血清标记物进行检测 ,比较分析 8例DS胎儿母血清与 184例对照病例血清中两种标记物水平。结果 :DS组母血中 β hCG、PAPP A平均值分别为 2 .3 1MoM和 0 .42MoM ,与对照组差别有显著性意义 (P <0 .0 5 ) ;β hCG、PAPP A两项指标联合筛查 ,DS的阳性检出率为 75 % ,假阳性率为8.3 5 %。结论 :孕早期 β hCG、PAPP A两联标记物筛查DS可以达到孕中期三联标记物筛查效果。     

City-wide screening for urinary abnormalities in schoolgirls

Screening for urinary tract infection was carried out in 23,427 schoolgirls, aged 5 to 14 years, using Uricult and, for hematuria, glycosuria and proteinuria using Hema-combistix. Cultures of 10⁵ colonies per ml. or more on two occasions were obtained in 2.3% and a positive culture was confirmed by the family physician using standard culture techniques in 82.7% of cases, giving an overall incidence of infection of 1.9%. Fifty-eight percent of these children had no previous history of any urinary tract symptoms. Of the infected group 9.5% had pyelonephritic scarring, 58.7% chronic cystitis and 58.7% urethral stenosis. Two additional cases had unilateral ureteropelvic junction obstruction with hydronephrosis. Reflux occurred in 26.6% of those investigated by voiding cystogram. In 58% of cases the urinary tract infection was not accompanied by significant proteinuria, hematuria or pyuria.

Proteinuria was detected on two occasions in 1.6% of the children and confirmed by the family physician in 33% of cases, giving an overall incidence of 0.5%. In this group 9.2% had evidence of pyelonephritic scarring without a positive urine culture.

Hematuria was detected on two occasions in 0.6% of the children and was confirmed by the family physician in 53%, giving an overall incidence of 0.3%. Only one case with pyelonephritic scarring was seen in this group.

Of the 25 cases with pyelonephritic changes only six had been previously diagnosed radiologically.

Four previously unrecognized diabetics were also detected.

     

City-wide screening for urinary abnormalities in schoolboys

Screening for urinary tract infection was carried out in 27,722 schoolboys aged 5 to 14 using Uricult to perform urine cultures and Hema-combistix to detect hematuria, proteinuria and glycosuria. Cultures of 10⁵ colonies per ml or more on two occasions were found in 40 cases (0.14%), but no case was confirmed by the family physician using standard culture techniques.     

Rapid prenatal diagnosis of chromosome abnormalities

The aim of the present work was to examine the efficacy of using FISH for the rapid prenatal diagnosis of common chromosome aneuploidies. A total of 100 analyses over a six month period were included in the study. Diagnosis was possible in all cases. A mosaic for trisomy 21 proved, by comparison with an extensive analysis of long term cultures, to be an apparent false positive. Otherwise the technique was reliable, accurate and relatively straightforward to perform. Results could be available within 24 hrs. In most cases an additional long term full analysis was also done, so as to exclude rarer aneuploidies and structural rearrangements. This methodology is seen as a useful addition to the prenatal diagnostic repertoire.     

Routine prenatal screening for HIV in a low-prevalence setting

BACKGROUND: The objectives of this study were to assess the effect of British Columbia's June 1994 guidelines for prenatal HIV screening on the rate of maternal-fetal HIV transmission and to estimate the cost-effectiveness of such screening. METHODS: The authors conducted a retrospective review of pregnancy and delivery statistics, HIV screening practices, laboratory testing volume, prenatal and labour management decisions of HIV-positive women, maternal-fetal transmission rates and associated costs. RESULTS: Over 1995 and 1996, 135,681 women were pregnant and 92,645 carried to term. The rate of HIV testing increased from 55% to 76% of pregnancies on chart review at one hospital between November 1995 and November 1996. On the basis of seroprevalence studies, an estimated 50.2 pregnancies and 34.3 (95% confidence interval 17.6 to 51.0) live births to HIV-positive women were expected. Of 42 identified mother-infant pairs with an estimated date of delivery during 1995 or 1996, 25 were known only through screening. Of these 25 cases, there were 10 terminations, 1 spontaneous abortion and 14 cases in which the woman elected to carry the pregnancy to term with antiretroviral therapy. There was one stillbirth. One instance of maternal-fetal HIV transmission occurred among the 13 live births. The net savings attributable to prevented infections among babies carried to term were $165,586, with a saving per prevented case of $75,266. INTERPRETATION: A routine offer of pregnancy screening for HIV in a low-prevalence setting reduces the rate of maternal-fetal HIV transmission and may rival other widely accepted health care expenditures in terms of cost-effectiveness.     

产前超声在胎儿畸形筛查中的应用

目的探讨产前超声检查在胎儿畸形筛查中的应用。方法 2010年1月—2011年12月期间,对来院行产前超声检查的1 023例孕20周~34周孕妇采用常规超声检查,对胎儿畸形进行筛查及诊断。结果经引产或出生后证实的各种畸形34例,彩色多普勒超声筛查诊断胎儿畸形32例,漏诊2例。结论妊娠中晚期进行系统超声检查,在合适的孕周,可以对胎儿形态结构方面的明显畸形作出产前诊断,可以大大减少胎儿畸形的漏诊率,对于降低畸形胎儿出生率,提高我国优生优育水平具有重要意义。     

足月小样儿对围生期异常的影响

目的:通过分析足月小样儿对围生期异常的影响,改善出生人口素质。方法:以1999年和2010年分娩的新生儿为调查对象,调查65例足月小样儿后新生儿疾病的发生情况。结果:在1999年足月小样儿发生率为6.7%,2010年足月小样儿发生率为6.5%,不同年度间比较差异没有统计学意义(P>0.05);且不同年度足月小样儿吸入性肺炎的发生率均高于对照组。结论:足月小样儿增加围生期异常结局的发生,强调临床早期筛查、积极采取干预措施,降低围生期异常的发生。