经超声诊断胎儿神经系统畸形回顾

目的 探讨经超声诊断胎儿神经系统畸形的诊断价值.方法 胎龄为孕12周-36周孕妇做常规超声检查,对有胎儿神经系统畸形或高危因素的孕妇早期采用经阴道超声进行检查,并做临床追踪对照.结果 胎龄为孕36周以下孕妇检查出胎儿神经系统畸形55 例,畸形率为0.43%,其中无脑儿12例,无脑儿并脊柱裂7例,露脑畸形7例,脊膜膨出11例,脑积水18例.结论 经超声用于诊断胎儿神经系统畸形准确率较高,可作为首选的诊断方法.     

孕早期超声诊断胎儿神经管畸形的应用进展

神经管畸形(NTDs)包括无脑畸形、露脑畸形、脊柱裂、前脑无裂畸形等,总发病率在出生胎儿中占1‰~5‰。目前神经系统畸形的诊断主要在中孕期孕20周左右,孕早期超声检查使无脑畸形、前脑无裂畸形等可在孕早期及早孕中期发现,早期筛查出神经系统畸形不仅可减少孕妇身心伤害,还可减少畸形儿出生,减少婴幼儿及围产儿死亡,达到提高出生人口质量,优生优育的目的。     

胎儿神经系统畸形产前系统超声诊断分析

目的:探讨产前系统超声检查在诊断胎儿神经系统畸形中的诊断价值.方法:回顾性分析29例胎儿神经系统畸形的产前系统超声检查资料,并与病理结果对照分析.结果:29例二维超声检查提示有神经系统畸形的胎儿同时行三维超声检查,诊断脑膜膨出2例,脑积水8例,小脑蚓部缺失5例,露脑畸形3例,无脑儿4例,全前脑1例,蛛网膜下腔囊肿1例,水脑症1例,隐形脊柱裂1例,脉络丛囊肿3例,均通过核磁共振核对,22例引产,其中13例行病理检查,9例大体标本证实.二维超声诊断符合率86.2％,失误率13.8％,三维超声断符合率100.0％.结论:产前系统超声检查是诊断胎儿神经系统畸形的首选方法,具有重要的临床应用价值.     

孕早期标准化超声切面筛查胎儿结构畸形的临床分析

目的探讨在孕早期行标准化超声切面筛查胎儿结构畸形的临床意义。方法选取2013年3月-2015年7月在该院行产前超声检查且在该院分娩的孕妇1 129例,所有孕妇均行孕早期标准化超声切面筛查并追踪妊娠结局。结果孕早期(孕11~13+6周)标准化超声切面筛查孕妇1 129例共1 206胎;对所有孕妇妊娠结局进行追踪随访,其中正常单胎1 013例,单胎异常39例,双胎正常72例,双胎异常5例,共发现胎儿畸形44例,发生率为3.65%(44/1 206)。孕早期超声筛查诊断16例,胎儿结构畸形占36.36%,骨骼四肢和神经系统畸形检出率较高,分别占64.28%和60.00%,呼吸和消化系统畸形均占0.00%;孕早期超声筛查胎儿结构畸形具有较好的诊断价值,其灵敏度、特异度、阳性预测值和阴性预测值分别为36.36%、100.00%、100.00%和97.65%;孕中期超声筛查诊断胎儿结构畸形28例,超声诊断结果与引产后诊断相符合。结论孕早期标准化超声切面筛查可检出部分严重胎儿畸形,但不能替代孕中期超声筛查。     

彩超筛查法在产前胎儿神经系统畸形中的诊断价值探讨

目的：探讨彩超筛查法在产前胎儿神经系统畸形中的临床诊断价值。方法：对2011年6月~2013年6月我院进行产前检查的2607例孕妇进行彩超检查,与产后诊断结果进行对比。结果：产前彩超诊断共有胎儿神经系统畸形29例,29例均经引产或出生后证实,产前超声诊断与产后诊断的符合率为100.0%。所有神经系统畸形胎儿中全前脑3例,无脑儿2例,脑积水7例,脊柱裂6例,脑膜膨出4例,Dandy-Wallker畸形3例,蛛网膜囊肿1例;合并多发畸形3例,漏诊2例（1例为脊柱裂,1例为颈部水囊瘤,脊柱后凸）,并发症漏诊率为6.45%。结论：采用彩超检查法诊断胎儿神经系统畸形具有重要临床应用价值,它能通过严格、科学筛查有效降低低智儿及畸形儿的出生率,对优生起重大指导意义。     

胎儿神经管畸形超声诊断价值的探讨

目的探讨胎儿神经管畸形超声诊断的价值。方法回顾分析1999年1月至2008年12月我院经超声诊断的34例神经管畸形胎儿。结果34例神经管畸形胎儿中无脑;L16例、脑积水9例、单纯脊柱裂4例、脊柱裂合并脑脊膜膨出2例、无脑儿合并脊柱裂1例、脑积水合并脊柱裂1例、1例隐形脊柱裂超声漏诊,神经管畸形超声诊断正确率97．35％。结论超声检查是诊断神经管畸形的首选方法。     

产前超声在孕早期和孕中期胎儿中枢神经系统畸形筛查中的应用价值

目的探讨孕早期和孕中期实施产前超声筛查对胎儿中枢神经系统畸形的诊断价值。方法选取2017年1月—2020年12月在厦门市妇幼保健院接受产前检查的3564例单胎孕妇作为研究对象,所有的孕妇在孕早期阶段(孕11+0~13+6周)或孕中期阶段(孕22+0~23+6周)进行产前超声筛查,以产后或引产后结果作为参照,评价产前超声在胎儿中枢神经系统畸形筛查中的应用价值。结果产后与引产后结果证实胎儿中枢神经系统畸形120例,超声诊断时孕周为11+5~23+6周,具体如下:露脑畸形30例(25.00%)、脑积水19例(15.83%)、无脑畸形11例(9.16%)、全前脑13例(10.83%)、脊柱裂22例(18.33%)、脑膨出7例(5.83%)、胼胝体发育不良9例(7.50%)、小脑发育不良6例(5.00%)、脑沟脑回异常2例(1.66%)、Dandy-Walker综合征1例(0.80%)。根据孕妇有无胎儿中枢神经系统畸形分为两组,对比一般资料,结果显示:存在胎儿畸形的孕妇年龄更高,畸形家族史与妊娠期高血压疾病的比例更高,差异均有统计学意义(均P<0.05)。孕早期超声筛查出畸形102例,无畸形3462例;孕早期联合孕中期超声筛查出畸形154例,无畸形3410例。孕早期联合孕中期超声筛查胎儿中枢神经系统畸形的灵敏度(93.33%)明显高于孕早期超声筛查(78.33%),特异度(98.78%)低于孕早期超声筛查(99.77%),差异均有统计学意义(均P<0.05),准确度比较差异无统计学意义(P>0.05)。结论对胎儿中枢神经系统畸形的产前超声筛查,可以将筛查时间提前到孕早期阶段,并可在孕中期进行超声检查作为补充,提高胎儿中枢神经系统畸形检出率。     

清代皇家膳食五大特点

1 临床资料 本人长期从事超声影像临床工作，我科自1990～2001年间共对3865例孕妇进行产前B超检查。共发现胎儿畸形69例（均经临床证实），共发现胎儿畸形占受检人数的1．8％。69例中1例脊柱裂合并轻度脑脊膜膨出B超漏诊。其中68例均经一次B超确诊，诊断符合率为98．5％。69例胎儿畸形中无脑儿41例，脑积水20例，脊柱裂2例，无脑儿合并脊柱裂脑脊膜膨出2例，胸腹腔内脏外翻1例，骶尾部畸胎瘤1例，     

二维超声等对不同孕周产前超声筛查胎儿畸形的临床分析

目的:观察二维超声联合四维超声对不同孕周产前超声筛查胎儿畸形的临床价值价值。方法:选取我院妇科门诊进行产前检查的孕妇300例,300例孕妇均在孕早期、孕中期及孕晚期进行超声筛查,根据孕妇选择检查方式的不同将其分为对照组和观察组,对照组由120例孕妇为选择单纯二维超声检查,观察组有180例孕妇选择二维超声联合思维超声检查,比较二组孕妇的筛查结果。结果:孕中期筛查出胎儿的畸形率多于孕早期和孕晚期,观察组产前筛查出胎儿畸形的准确率高于对照组,P0.05;观察组孕中期筛查的畸形胎类别中以泌尿生殖系统最高,与其类别相比,P0.05。结论:在胎儿畸形诊断中选取二维超声联合四维超声对不同孕周产妇进行筛查,可提高胎儿畸形检查的准确率,降低缺陷胎儿的出生率,可在临床推广。     

产前超声检查对胎儿畸形的诊断价值

目的探讨胎儿畸形的声像图特征和产前超声检查对胎儿畸形的诊断价值。方法对12600例孕妇行产前常规超声检查,发现胎儿畸形声像图予以测量并记录,最后通过临床分娩或引产证实。结果胎儿畸形56例,其中产前超声诊断胎儿畸形52例,超声诊断符合率92．86％;漏诊4例,漏诊率7．14％。胎儿畸形以神经系统畸形（24例,占42．86％）,消化系统畸形（10例,占17．86％）,泌尿系统畸形（8例,占14．28％）,颜面部畸形（6例,占8．92％）最为常见。结论产前超声检查安全方便,无创伤,重复性好,对产前超声的诊断具有重要的价值,是临床产前诊断胎儿畸形的首选方法。     

The incidence of spina bifida in Sweden 1973-2003: the effect of prenatal diagnosis

BACKGROUND: Many studies have been conducted on the accuracy of prenatal ultrasound diagnosis of foetal CNS-malformations. These studies were mostly hospital-based or, sometimes, multicentre studies. We present here a population-based study of the prenatal diagnosis of spina bifida in Sweden over a period of 31 years. METHODS: We compared the number of newborns with spina bifida and the elective terminations because of the prenatal diagnosis of spina bifida for different periods. RESULTS: The rate of spina bifida among newborns diminished gradually from 0.55 per 1000 to 0.29 per 1000 during the study period. In M county the rate of spina bifida at birth decreased very rapidly and from 1993 onwards was about half of that in the rest of the country. CONCLUSION: There has been a decline in the rate of spina bifida at birth. This decline can be seen earlier in the southern part of the country, M county. The decline is probably, to a great extent, a consequence of prenatal ultrasound screening.     

2011-2018年超声在广东省出生缺陷诊断中的应用分析

目的通过分析广东省2011-2018年超声在出生缺陷确诊中运用,探讨影响超声诊断出生缺陷的灵敏度的相关因素。方法根据国家出生缺陷监测方案的方法要求,以监测医院为基础收集出生缺陷监测资料,对广东省监测医院的数据进行统计和分析,探索缺陷诊断方法的变化趋势。结果广东省57家出生缺陷监测医院2011-2018年共监测孕产妇208.85万例,检出缺陷儿到缺陷儿71099例,其中诊断依据为超声或超声联合其他诊断方法的有43908例,占61.76%,超声作为诊断依据其年度率的差异有统计学意义(χ^2=159.23,P<0.05)。超声诊断出生缺陷灵敏度较高的出生缺陷为:先天性心脏病,先天性脑积水,脑膨出,无脑畸形,先天性膈疝,脊柱裂,腹裂,联体双胎,水肿综合征,脐膨出。超声诊断灵敏度较低的10种出生缺陷为:外耳其他畸形(小耳、无耳除外),多指(趾),尿道下裂,并指(趾),小耳(含无耳),直肠肛门闭锁(含狭窄或无肛),唐氏综合征,马蹄内翻足,腭裂,唇裂。2011-2018年超声或超声联合其他诊断方法产前确诊缺陷儿23964例,产前超声确诊灵敏度最高的为13~27孕周组,为74.35%。结论超声诊断能够发现大部分胎儿结构畸形,但部分缺陷的产前超声确诊率较低,应尽可能使胎儿畸形筛查确诊提前,有助于预防严重畸形的晚期妊娠,提高出生质量。     

Amniotic fluid concentrations of alpha-fetoprotein (AFP) in early normal pregnancy, and pregnancy complicated by neural tube defects. A review of 18 months experience

Amniotic fluid concentrations of alpha-fetoprotein (AFP) in early normal pregnancy and pregnancy complicated by neural tube defects were investigated. The normal range of AFP values was determined from 163 samples obtained at 14-20 weeks of pregnancy. The relationship between AFP level and gestational age was represented by a linear regression (p less than .001). Regression lines for males and females differed significantly in position (p less than .01) but not in slope, the line for males 2.7 mcg/ml higher than that for females. No correlation was seen between maternal age and AFP level. 50 'at risk' cases, in whom there has been a history of previous anencephaly or spina bifida, were included in the noraml values. 6 of these patients had amniotic fluid AFP values outside the normal range and in 5 of the 6 cases, ultrasound examination of the fetus confirmed the diagnosis of an anencephalic type lesion and so termination was undertaken, All 5 fetuses had severe neural tube defects. The 6th fetus revealed an intact neural tube but clear-cut evidence of growth retardation and the placenta was small and infarcted.     

产前超声诊断胎儿畸形138例的临床分析

目的：探讨产前超声检查诊断胎儿畸形的临床效果。方法：选取某医院收治的孕期内诊断为先天性畸形胎儿的孕妇138例作为研究对象,对其进行超声检查,分析超声检查诊断胎儿畸形的临床效果。结果：经过超声检查后,138例先天性畸形胎儿中,主要是神经系统、心血管系统、颜面部畸形,所占比例分别为29.71%、21.74%、16.67%。结论：通过对产妇进行产前超声检查,可以有效区别畸形状况,及时采取必要措施提前干预,大大减少畸形胎儿的出生率。     

Prevalence of neural tube defects in 20 regions of Europe and the impact of prenatal diagnosis, 1980-1986. EUROCAT Working Group.

STUDY OBJECTIVE--The aims were (1) to determine whether in Europe, 1980-86, geographical differences in total prevalence of neural tube defects persist; (2) to examine the stability of total prevalence rates over time; (3) to evaluate the impact of prenatal diagnosis in terms of frequency and timing of termination of pregnancy. DESIGN--Prevalence rates of neural tube defects were determined from case registration data in 20 EUROCAT regional registers of congenital anomalies, 1980-86. The chi 2 test for homogeneity in proportions was used to test whether differences in total prevalence rates were significant between regions or over time. SETTING--Geographically defined populations were used in the Republic of Ireland, United Kingdom, Belgium, The Netherlands, Luxemburg, Denmark, France, Italy, Yugoslavia, and Malta. PATIENTS--The patients were 3113 cases of anencephaly, spina bifida, encephalocele, and iniencephaly. Total cases (livebirths, stillbirths and induced abortions following prenatal diagnosis) were registered in 14 regions. Induced abortions were excluded from registration in six regions. MEASUREMENTS AND MAIN RESULTS--Total prevalence rates (including livebirths, stillbirths and induced abortions) were 24 to 38 per 10,000 in six areas of Ireland and United Kingdom. Average total prevalence rate in eight continental European areas was 11.5 per 10,000. There was a secular decline in total prevalence in Dublin (Republic of Ireland) and Northern Ireland (United Kingdom) and a fluctuation in Glasgow, Liverpool, and South Glamorgan (United Kingdom). Total prevalence in continental Europe was stable over time. There was no significant geographical or secular variation in the spina bifida to anencephaly ratio (1.3). The ratio of encephalocele to other neural tube defects was lower in the British Isles (0.09) than in continental Europe (0.18). The impact of prenatal diagnosis and termination of pregnancy is increasing over time. Terminations were performed 1984-86 in at least 80% of total cases of anencephaly in 6/11 centres registering induced abortions, and in at least 40% of total cases of spina bifida in four centres. Serum alpha fetoprotein screening in British centres was associated with earlier prenatal diagnosis of spina bifida than ultrasound screening in other centres. CONCLUSIONS--Geographical and secular variation in total prevalence of neural tube defects persists in Europe 1980-86, independent of the practice of prenatal diagnosis. There is considerable regional variation in the impact of prenatal diagnosis in terms of frequency and timing of diagnosis and pregnancy termination linked to different policies and practices of prenatal screening.     

超声在囊性肾癌的诊断及鉴别诊断中的应用价值

目的探讨超声对囊性肾癌的临床诊断中的应用价值。方法回顾性分析2000年1月-2008年1月间我院收治的囊性肾癌患者30例的超声诊断资料。结果术前超声诊断符合率93．33％。肿瘤直径2．90±10．20cm,平均（6．40±1．35）cm。单房囊肿型16例、多房囊肿型9例,囊实混合型5例。本组CDFI显示26个囊性肾癌有较丰富的彩色血流信号,均可引出动脉频谱。结论超声在诊断囊性肾癌中具有诸多优点,是临床检查中首选检查方法之一。     

三维超声成像技术在诊断胎儿脊柱裂的应用价值

目的：探讨三维超声成像技术在诊断胎儿脊柱裂的应用价值。方法：对2011年3月-2014年1月在本院做常规产前检查的1024例中晚期妊娠胎儿进行二维和三维超声检查,并进行临床随访。结果：本研究中1024例晚期妊娠胎儿超声检查中,经引产或生产后证实共有脊柱裂胎儿38例。二维超声检查漏诊2例,误诊1例,其特异性和敏感性分别为94.74%和99.9%;三维超声检查联合二维超声检查无漏诊和误诊现象,均对胎儿脊柱裂作出正确诊断,准确性为100%。结论：三维超声成像技术能清晰、直观、准确地显示胎儿脊柱形态,可有效提高胎儿脊柱裂的检出率,值得临床推广。     

超声在囊性肾癌的诊断及鉴别诊断中的应用价值

目的探讨超声对囊性肾癌的临床诊断中的应用价值。方法回顾性分析2000年1月～2008年1月间我院收治的囊性肾癌患者30例的超声诊断资料。结果术前超声诊断符合率93.33%。肿瘤直径2.90～10.20cm,平均(6.40±1.35)cm。单房囊肿型16例、多房囊肿型9例,囊实混合型5例。本组CDFI显示26个囊性肾癌有较丰富的彩色血流信号,均可引出动脉频谱。结论超声在诊断囊性肾癌中具有诸多优点,是临床检查中首选检查方法之一。     

四维超声和MRI在胎儿隐性脊柱裂筛查中的应用及影响诊断准确性的因素分析

目的:探讨四维超声在胎儿隐性脊柱裂筛查中的应用及影响诊断准确性的因素分析.方法:选择在医院进行产前筛查,经普通超声检查疑似存在胎儿脊柱发育异常且不能被明确诊断的80名孕妇,分别采用四维超声和磁共振成像(MRI)检查,比较四维超声和MRI诊断方法诊断胎儿隐性脊柱裂的效果,分析影响四维超声诊断准确性的影响因素.结果:四维超...     

Prenatal tea consumption and risks of anencephaly and spina bifida

PURPOSE: To evaluate the relationship between prenatal tea consumption and risk of anencephaly and spina bifida.METHODS: Data from the population-based Atlanta Birth Defects Case-Control Study were examined. Cases were infants with anencephaly (n = 122) or spina bifida (r = 154) and no other associated anomalies, and identified between 1968 and 1980. Controls were infants without birth defects (n = 3029) identified from birth certificates of the same birth cohort and frequency matched to cases by race, period of birth, and hospital of birth.RESULTS: Maternal tea consumption during the periconceptional period (3 months before through the first trimester of pregnancy) was reported at 82, 83.6, and 92.9% among controls, anencephaly, and spina bifida cases, respectively. With subjects whose mothers consumed no tea as a reference, odds ratios (OR) for tea consumption during the periconceptional period (adjusted for gender, race, period of birth, maternal age, education, alcohol consumption, smoking, and periconceptional multivitamins) were: anencephaly 0.9 (95% confidence limits (CI) 0.5-1.5); spina bifida 2.3 (CI 1.2-4.4). Odds ratios for spina bifida and number of cups of tea consumed/day were: 1-2 cups 2.1 (CI 1.1-4.0); 3+ cups 2.8 (CI 1.4-5.6). Consumption of other caffeinated beverages was not associated with risk for anencephaly or spina bifida.CONCLUSIONS: Further studies are warranted to corroborate and elucidate the observed association between tea consumption and spina bifida.