2616例孕中期孕妇的血清特异性标志物筛查结果分析

目的探讨孕中期产前筛查的临床应用价值,并探讨影响其风险值的主要因素。方法检测2616例孕中期（14～24周）孕妇血清中的甲胎蛋白（AFP）、人绒毛膜促性腺激素β亚单位（[3-HCG）和游离雌三醇（uE3）的浓度,其中AFP、β-HCG使用电化学发光法,uE3使用酶联免疫法检测;使用T21$SOFTw筛查软件评估风险。建议唐氏综合征或18-三体综合征高风险孕妇行胎儿羊水染色体核型分析,神经管缺陷高风险者接受高分辨超声检查。结果唐氏综合征、18-三体综合征、神经管缺陷高风险发生率分别为5．73％、0．34％、1．11％;高风险孕妇经产前诊断确诊唐氏综合征1例,神经管缺陷2例,其它染色体异常疾病3例。结论对孕中期孕妇进行产前筛查,是减少患染色体疾病和神经管缺陷患儿出生的有效方法;在筛查软件中应对诸多影响因素予以校正,而孕周的准确与否对筛查结果影响较大。     

孕妇产前筛查及产前诊断35 961例

目的:评价妊娠中期孕妇血清(AFP/β-hCG)二联法筛查在唐氏综合征、18三体综合征和神经管缺陷的临床应用价值,评价羊水细胞染色体分析对诊断胎儿染色体异常的临床应用价值.方法:对35 961例孕14～21周的孕妇采用时间分辨免疫荧光法(DELFLA)进行血清AFP和人绒毛膜促性腺激素游离β亚单位浓度的检测,结合孕周、体重、年龄等因素,通过风险评估软件进行风险评估.将筛查结果与B超、羊水染色体分析、新生儿检查结果对照.结果:35 961例孕妇中筛查出唐氏综合征高危妊娠1 856例,筛查阳性率为5.16%,经羊水染色体核型分析确诊10例唐氏综合征怠儿;18-三体高风险者170例,筛查阳性率为0.47%,经羊水染色体分析确诊5例;神经管缺陷高危者259例,筛查阳性率为0.72%,其中确诊为神经管缺陷胎儿61例.结论:产前筛查和产前诊断可减少缺陷儿的出生,具有明显的经济效益和社会效益,是落实优生优育政策非常有效的技术手段.     

超声诊断胎儿神经管缺陷的价值

目的：探讨超声诊断胎儿神经管缺陷的价值。方法：对16例经产后证实为胎儿神经管缺陷的超声诊断声像图回顾性分析．结果：产前诊断胎儿神经管缺陷16例，不同类型的神经管缺陷声像图各具特点．与其胚胎发育过程密切相关．神经管缺陷往往与神经系统多种畸形并存，多伴羊水过多。结论：胎儿神经管缺陷对妊娠结果至关重要，实时超声无创性诊断神经管缺陷准确可靠，应成为神经管缺陷胎儿产前筛查的首选方法。     

颅内透明层在产前筛查胎儿神经管畸形中的应用及研究进展CSCD

神经管畸形（neural tube defects,NTDs）是产前筛查中较常见的胎儿畸形,其中脊柱裂的发病率较高,其发病率与地域、种族等有关,我国北方地区发病率较高。脊柱裂分为开放性脊柱裂和闭合性脊柱裂,开放性脊柱裂发病率约占脊柱裂的85%。目前,脊柱裂的筛查方法主要是产前生化筛查和产前超声筛查,筛查时间主要集中于中孕期和晚孕期,对于早孕期胎儿畸形的筛查仍在探索中。     

46576例孕妇的产前筛查及产前诊断

目的评价妊娠中期孕妇血清(AFP、β-hCG和uE3)三联法筛查在唐氏综合征、18三体综合征和神经管缺陷的临床应用价值,评价羊水细胞染色体分析对诊断胎儿染色体异常的临床应用价值。方法对46 576例孕14-21周的孕妇采用时间分辨免疫荧光法(DELFLA)进行血清AFP、Free-βHCG和uE3浓度的检测,结合孕周、体重、年龄等因素,通过风险评估软件进行风险评估。将筛查结果与B超、羊水染色体分析、新生儿检查结果对照。结果 46 576例孕妇中筛查出唐氏综合征高危妊娠2356例,筛查阳性率为5.06%,经羊水染色体核型分析确诊12例唐氏综合征患儿;18-三体高风险者190例,筛查阳性率为0.41%,经羊水染色体分析确诊5例;神经管缺陷高危者259例,筛查阳性率为0.56%,其中确诊为神经管缺陷胎儿61例。结论产前筛查和产前诊断可减少缺陷儿的出生,具有明显的社会效益和经济效益,是落实优生优育政策非常有效的技术手段。     

孕中期孕妇2389例产前筛查结果及影响因素分析

目的探讨孕中期孕妇产前筛查的临床应用,分析检测中可能的影响因素,以提高检测结果的准确性。方法应用时间分辨免疫荧光分析法检测2009年6月—2011年12月我院就诊的2389例孕14～21周孕妇血清中甲胎蛋白（AFP）、游离人绒毛膜促性腺激素（Free-β-hCG）的浓度,经软件计算风险率。对筛查出的具有胎儿出生缺陷的高风险孕妇,在知情同意且自愿的原则下行羊水穿刺或B超检查进行产前诊断。结果本组2389例筛查出唐氏综合征高风险130例（5.44%）,爱德华综合征高风险33例（1.38%）,神经管缺陷高风险48例（2.01%）。190例高危标本中产前诊断出18三体综合征1例。结论对孕中期孕妇进行产前筛查,有利于高风险胎儿的及早诊断和治疗,从而降低缺陷儿的出生率。     

羊水乙酰胆硷酯酶及甲胎蛋白测定与胎儿神经管缺损的诊断

胎儿畸形的种类较多,其中最常见者为神经管缺损。1972年Brook首次报道,胎儿有严重神经管缺损时,羊水中的甲胎蛋白(AFP)含量升高。此后Beatson和Finlex等也相继证明,羊水中AFP增高是诊断无脑儿和开放性脊柱裂的可靠指标。虽然,羊水AFP的测定已成为诊断胎儿开放性神     

孕中期孕妇产前筛查结果分析

目的探讨孕中期产前筛查的临床应用价值。方法测定11 909例孕中期孕妇血清标志物甲胎蛋白（AFP）和人绒毛膜促性腺激素（β-HCG）值,采用Auto DELFIA 1235全自动免疫分析系统得出唐氏综合征、18-三体综合征、神经管缺陷（NTD）三种疾病的风险值,高风险者采用胎儿羊水染色体核型分析以及三维B超进行确诊。结果筛查的11 909例孕妇中,高风险孕妇1976例,阳性率为16.59%,经染色体检查或三维B超诊断,确诊唐氏综合征9例,18-三体综合征3例,NTD 0例,其他缺陷异常10例。结论对孕中期孕妇进行产前筛查是减少染色体疾病和神经管缺陷患儿出生的有效方法。     

早孕期诊断胎儿体蒂异常超声与病理对照研究

目的探讨早孕期胎儿体蒂异常超声诊断的临床价值。 方法对2009年1月至2014年7月早孕期在湖北省妇幼保健院超声筛查诊断体蒂异常的17例胎儿超声声像图特征及引产胎儿病理尸检（15例）结果进行对照研究。 结果早孕期诊断体蒂异常的17例胎儿超声表现与中晚孕期相同：腹壁大的缺损及肿块回声,严重脊柱侧弯,肢体异常,颅面缺损,神经管缺陷和脐带极短或缺失。其中多数胎儿（10例）合并心脏,泌尿系统等畸形。17例体蒂异常胎儿早孕期特有的超声表现：头臀径（CRL）测值评估孕周均小于临床孕周;颈项透明层（NT）增厚11例,胚外体腔持续存在13例。妊娠结局：17例体蒂异常胎儿超声检查后胎儿母亲均选择终止妊娠,15例引产胎儿标本尸检证实与产前超声诊断相符合;畸形分类：Ⅰ型3例,以颅面缺陷为主要特征;Ⅱ型12例,无颅面畸形,腹部-胎盘附着为主要特征,8例伴肢体畸形;2例未行病理尸检。17例体蒂异常胎儿产前超声漏误诊心脏及肢体异常9例。 结论早孕期系统超声筛查对检出胎儿体蒂异常有重要临床价值,胎儿体蒂异常合并心脏及肢体异常产前超声易漏诊或误诊。     

彩色多普勒诊断妊娠晚期胎儿脐带绕颈的临床价值

目的 探讨脐带绕颈对围产儿的影响及临床监测。方法 使用TOSHIBA140彩色超声诊断仪，对105例妊娠在36—41周的孕妇进行检查和检测，并对资料进行分析。结果 105例超声诊断为胎儿脐带绕颈，经临床娩出证实103例，诊断符合率为98%，其中胎儿脐带绕颈压迹深有21例并发胎儿宫内窘迫，其中脐带绕颈一圈者6例（6/68），两圈者6例（6/25），三圈者9例（9/12）胎儿宫内窘迫者脐动脉S/D比值、RI与胎儿宫内窘迫者相比差异有显著性意义。结论 产前B超诊断脐带绕颈诊断率高，脐带绕颈的松紧及绕颈周数与宫内窘迫的发生有直接关第，脐动脉血流参数RI和S/D比值对预测胎儿宫内窘迫有重要意义。     

孕中晚期羊水过多的相关因素探讨

【目的】探讨孕中晚期发生羊水过多的相关因素。【方法】以308例羊水过多孕妇为观察组,另选择同期300名羊水量正常的孕妇为对照组。记录所有孕妇孕期情况和妊娠结局,比较两组差异。[结果]308例羊水过多孕妇共分娩新生儿316名;胎儿先天畸形的16例,其中羊水过多发生在妊娠32周以前的胎儿畸形发生率为81．25％（13／16）,高于妊娠32周以后发生羊水过多的畸形发生率18．75％（3／16）（P〈0．05）;且大于30岁的孕妇胎儿畸形发生率68．75％（11／16）,巨大胎儿40例（12．66％）均发生在32周以后发生的羊水过多中。羊水过多的程度基本不影响妊娠结局;观察组的巨大儿、低出生体重儿、剖宫产率、胎儿宫内窘迫以及出生窒息率均比对照组高（P〈0．05）。【结论】孕32周前发生的羊水过多应注意排查胎儿先天发育异常,尤其是合并高龄等高危因素的孕妇,应根据情况进行介入性产前诊断,排除胎儿染色体异常。     

Androgen receptors influence the production of pulmonary surfactant in the testicular feminization mouse fetus.

A sexual dimorphism in fetal pulmonary maturation has been described in which the female fetal lung produces surfactant earlier in gestation than the male fetal lung. This is felt to be related to the increased incidence in male newborns of the Respiratory Distress Syndrome. Dihydrotestosterone will delay surfactant production in the female fetus, and a relationship between fetal sexual differentiation and fetal lung maturation has been proposed. We hypothesized that the dimorphism in fetal surfactant production is dependent on androgen receptor function. We measured phosphatidylcholine (PC), saturated phosphatidylcholine (SPC), and sphingomyelin (S) in the amniotic fluid of fetal mice of the mouse model of testicular feminization (Tfm mouse). In this model, male carriers of the X-linked Tfm gene have no functional androgen receptors. The mean amniotic fluid phosphatidylcholine to sphingomyelin ratio (PC/S ratio) was 28% higher in females than in normal males, and the amniotic fluid PC/S ratio of the Tfm male fetuses was the same as the females. The ratio of amniotic fluid saturated phosphatidylcholine to sphingomyelin (SPC/S ratio) was lowest in males, intermediate in females, and highest in Tfm males. A significant relationship between the fetal groups and the amniotic fluid SPC/S ratio was identified by analysis of variance. There were no differences in the whole lung phospholipid content between the three groups. To substantiate the effect of androgen receptors, dihydrotestosterone was injected into pregnant carriers of the Tfm mutation, 2.5 mg/d from day 10 of gestation through the day of sacrifice. The amniotic fluid PC/S ratio was decreased in the female fetuses (consisting of both homozygous normal and heterozygous carriers of the Tfm gene), but not in the Tfm male fetuses. The overall result was no significant difference between the male and female amniotic fluid PC/S ratio while the Tfm amniotic fluid PC/S ratio remained at the level of the untreated females. We conclude that androgens affect fetal lung development via a mechanism dependent on the presence of androgen receptors.     

Diagnosis of fetal lung maturity by ultrasound: a new method and first results.

The first results are presented of a method to determine the maturity of fetal lung by sonography. By comparing the frequency characteristics of lung echoes to those from the fetal liver as a reference organ, we avoid the known pitfalls which previously made it impossible to standardize fetal lung changes with gestation.We examined 222 patients between 27 and 39 completed weeks of gestation. In one ultrasound section we depicted fetal lung and liver simultaneously. Switching to A-mode we registered the frequencies contained in the video envelope in both organs.The registered frequencies were entered digitally in to a computer and checked for mean frequency, maximum frequency and minimum frequency. Afterwards, the ratio of the frequencies of the lung and liver were obtained. For all weeks of gestation, the mean value and standard deviation were calculated.We found the liver to be an adequate reference organ, since there is no change of the reflection pattern between the different weeks of gestation, while significant changes were registered in the fetal lungs. A quotient of Q(mean) lower than 1.1 suggests lung maturity, while values over 1.1 point to immaturity.This appeared to be confirmed in 13 patients who had agreement between amniotic fluid lecithin values and Q(mean). Further comparisons with amniotic fluid results will have to validate these findings.     

羊水样本卵磷脂和鞘磷脂检测超高效液相色谱串联质谱方法的建立及应用

目的建立检测羊水中卵磷脂和鞘磷脂(L/S)的超高效液相色谱串联质谱(UPLC-MS/MS)方法,以便准确、高效地预测胎儿肺成熟度。方法收集孕32~39周孕妇分娩时的羊水样本23份。依据新生儿Apgar评分标准,有3例胎儿胎肺未成熟、20例胎儿胎肺成熟。另收集孕18周孕妇羊水样本7份作为基线对照,建立检测羊水中卵磷脂和鞘磷脂水平的UPLC-MS/MS方法,计算卵磷脂/鞘磷脂(L/S)比值,同时采用板层小体计数(LBC)法检测板层小体(LB),评价2种方法在预测胎肺成熟度中的价值。结果建立的检测羊水中卵磷脂和鞘磷脂的UPLC-MS/MS方法精密度良好,离子峰强度和保留时间均在可检测范围内,主成分分析(PCA)显示6个质控样本聚类良好。以L/S比值=10作为判断胎肺成熟度与不成熟的临界值,UPLC-MS/MS的敏感性和特异性均为100%。以LB=50×10^9/L作为判断胎肺成熟度与不成熟的临界值,LBC法的敏感性和特异性分别为80%和95%。结论建立了检测羊水中卵磷脂和鞘磷脂水平的UPLC-MS/MS方法,其结果可靠,可以准确、高效地预测胎肺成熟度。     

Noradrenaline to adrenaline ratio in amniotic fluid as an index of fetal maturity

Amniotic fluid lecithin to sphingomyelin ratio (L/S) and adrenaline concentration, noradrenaline concentration, and noradrenaline to adrenaline ratio (NA/A) were measured in 50 normal women late in pregnancy. Between gestation weeks 37 and 43 the maturity-linked increase in L/S ratio was accompanied by similar increases in NA/A ratio and noradrenaline but by decreases in adrenaline concentration. Although the amniotic fluid NA/A ratio reflects fetal sympathetic nervous system development rather than pulmonary development as mirrored by the L/S ratio, a high correlation existed between log NA/A and L/S, indicating that the NA/A ratio could provide a further index of fetal maturity.     

羊水间充质干细胞体外培养方案的优化及生物学特性

背景：目前干细胞工程种子来源多样化,羊水中存在胎儿脱落细胞,可分离培养出间充质来源干细胞。目的：探索不同成分培养基对人羊水间充质干细胞（human amniotic fluid-derived mesenchymal stem cells,h-AFMSCs）体外培养的影响,并分析最适培养基体外培养的h-AFMSCs的生物学特性,建立优化的h-AFMSCs培养方案。方法：孕16～24周的孕妇产前检查中获得羊水进行原代及传代培养并采用6种不同的培养基成分对h-AFMSC进行培养。结果与结论：从孕中期羊水中可分离出h-AFMSCs,体外使用低糖DMEM培养基（L-DMEM）＋体积分数10%胎牛血清与合成培养基MESEN PRO体积比1：1配制的培养基对其扩增促进作用最强。h-AFMSCs高表达CD29、CD73、CD90、CD105、CD166,低表达CD14、CD34、CD45及HLA-DR;分离培养的h-AFMSCs高表达的干细胞基因为OCT-4和Nanog;h-AFMSCs体外具有向成骨、成脂细胞分化的潜能且具有抑制淋巴细胞增殖的作用。提示孕中期羊水是低免疫原性的h-AFMSCs的良好细胞来源。     

Ultrasonographic demonstration of floating particles in amniotic fluid

This prospective study of 131 pregnant women was designed to determine the incidence and significance of floating particles in amniotic fluid. Floating particles ranging in size from 1 to 5 mm were seen in the amniotic fluid of pregnant women at 15 to 40 weeks' gestation. Since vernix is rarely present before 35 weeks' gestation, a source other than flakes of vernix must be sought to explain the floating particles in amniotic fluid in early gestations. There was no significant difference in the sizes or numbers of particles at different gestational ages (from 15 to 40 weeks). Therefore, it is concluded that ultrasonographic demonstration of floating particles in amniotic fluid cannot be considered an indicator of fetal maturity.     

Exhaled nitric oxide concentration and amniotic fluid nitrite concentration during pregnancy

Abstract. We have assessed fetal and maternal nitric oxide (NO) production in pregnancy. Exhaled NO and amniotic fluid nitrite concentrations were measured by chemiluminescence between 10 and 42 weeks of pregnancy. Exhaled NO concentrations did not alter significantly during gestation. In contrast, there was a significant change in mean amniotic fluid nitrite concentration in late pregnancy ( P < 0.001). The finding of decreased amniotic nitrite concentrations after 37 weeks of gestation support the hypothesis that reduced NO production may contribute to increased uterine activity in late pregnancy.     

Sonographic measurement of amniotic fluid volume in the first trimester of pregnancy.

The sonographic estimate of amniotic fluid volume from 7 to 13 weeks of gestation in 95 pregnancies was calculated. Amniotic fluid volume increased from 1.5 ml at 7 weeks to 25 ml at 10 weeks and 100 ml at 13 weeks. The nomograms constructed may be used in the objective evaluation of the fetal condition in the first trimester.     

Non protein bound iron concentrations in amniotic fluid

OBJECTIVES: To investigate whether amniotic fluid concentrations of non protein bound iron (NPBI) vary with growth in healthy fetuses and also offer a reference curve in the second trimester of pregnancy. DESIGN AND METHODS: Amniotic fluid concentrations of NPBI were measured by HPLC in 118 women with physiological singleton pregnancies, who underwent amniocentesis for fetal karyotype between weeks 15 and 18 of gestation. RESULTS: NPBI increased progressively from weeks 14--15 to weeks 15--16, peaking at 17--18 weeks of gestation. NPBI values regressed positively with gestational age (GA). Multiple linear regression analysis between NPBI, as dependent variable, and various fetal parameters, as independent variables, showed a statistically significant regression coefficient with GA, bi-parietal diameter and transverse cerebellar diameter. CONCLUSIONS: The present data constitutes the first quantification of NPBI concentrations in amniotic fluid under physiological conditions. Correlations with GA and ultrasound fetal biometry suggest that NPBI may play a role in fetal growth.