对孕中期妇女行血清学二联指标筛查胎儿唐氏综合征的多中心前瞻性研究

目的 建立中国孕妇孕中期血清学二联指标筛查胎儿唐氏综合征的数据库,探讨适合中国大陆孕妇筛查胎儿唐氏综合征的策略.方法 应用有区域代表性的多中心前瞻性研究方法,收集2004年5月至2006年9月期间在北京协和医院等11家医疗单位就诊的、孕周为14～20周+6并同意接受产前筛查的66 132例妊娠单活胎孕妇(平均年龄27岁)行血清甲胎蛋白(AFP)和游离人绒毛膜促性腺激素B亚单位(freeβ-Hcg)二联指标检测,将二联指标测定值输入以高加索人群数据库为基础的唐氏综合征风险计算软件.根据本研究中孕妇的数据重新计算血清AFP和游离B-Hcg的中位数倍数值及胎儿罹患唐氏综合征的风险.设定1/270为高危切割值,≥1/270确定为唐氏综合征筛查高危.并与高加索人群数据库筛查结果进行比较.结果 经染色体核型分析,66 132例孕妇中共诊断唐氏综合征97例.(1)以高加索人群筛查参数计算的结果:66 132例中筛查出高危孕妇5470例,其中诊断唐氏综合征91例,高危孕妇的唐氏综合征检出率为94%(91/97),假阳性率为8.15%,阳性预测值为1.66%(91/5470);筛查低危的60 662例孕妇中有6例产后诊断为唐氏综合征.调整假阳性率为5%时,有70例患唐氏综合征的孕妇筛查为唐氏综合征高危,其检出率为72%(70/97);当校正检出率为60%时,筛查高危孕妇为2785例,其中唐氏综合征孕妇为58例,假阳性率为4.1%.假设所有筛查高危的孕妇都接受羊膜腔穿刺,每检出l例唐氏综合征患儿需要进行60例的羊膜腔穿刺术.(2)以中国孕妇人群筛查参数计算的结果:66 132例中筛查高危孕妇4332例,高危率为6.551%(4332/66 132),其中诊断唐氏综合征88例,唐氏综合征的检出率为90%(88/97),假阳性率为6.43%;在筛查低危的61800例孕妇中,有9例经产后诊断为唐氏综合征.调整假阳性率为5%时,有74例孕妇筛查为唐氏综合征高危,其检出率为76%(74/97);校正检出率为60%时,筛查高危孕妇为2541例,其中唐氏综合征孕妇58例,则假阳性率可降至3.8%.假设所有筛查高危孕妇均接受羊膜腔穿刺,每检出1例唐氏综合征患儿需要进行50例羊膜腔穿刺术,低于高加索人群筛查参数计算的结果.结论 中国大陆孕妇人群和高加索孕妇人群之间存在血清学指标的差异,以中国孕妇人群的数据库为基础,采用孕中期血清学二联指标筛查胎儿唐氏综合征,可以明显提高筛查的产前诊断效率,获得较令人满意的筛查结果.     

3657例孕中期唐氏筛查及产前诊断的临床价值分析

目的探讨孕中期唐氏筛查对检出胎儿染色体异常和妊娠不良结局的临床价值。方法应用时间分辨荧光免疫法对3657例孕中期(14～20+6周)妇女进行血清标记物AFP和free-β-hCG2项指标双标记检测。筛查结果应用LifeCycle和Elipse软件计算唐氏综合征风险。唐氏筛查风险切割值为1∶270,当切割值≥1∶270时为唐氏高危孕妇。对于高危孕妇,于孕18～22周左右进行羊膜腔穿刺,抽取羊水进行胎儿染色体核型分析。并继续追踪胎儿和孕妇情况。结果在有回访资料的3258例孕妇中,去筛查到高危212例,唐氏筛查阳性率为5.8%(212/3657)。其中68例接受羊水或脐血穿刺产前诊断,占筛查高危孕妇的32.1%(68/212);发现胎儿染色体异常8例,异常检出率11.8%(8/68),其中3例唐氏综合征、2例18-三体综合征、1例Turner’s综合征、1例9号染色体臂间倒位、1例平衡易位。唐氏筛查高风险和低风险组不良妊娠结局分别为6.6%和3.4%,呈显著性差异(p0.05)。结论孕中期产前筛查是预测异常胎儿和不良妊娠结局的有效指标。结合羊水培养或脐血培养等产前诊断技术和方法,对预防先天缺陷儿出生有重要临床应用价值。     

妊娠中期二联唐氏综合征筛查法在浙南地区32188例孕妇中的筛查效率

目的 采用二联法(母血清甲胎蛋白和β-人绒毛膜促性腺激素)对浙南地区妊娠中期孕妇进行唐氏综合征筛查,评估其筛查效率. 方法 对本地区孕妇根据知情同意原则在妊娠中期取羊水进行常规二联唐氏综合征筛查,筛查出的高风险(≥1∶270)孕妇采用羊膜腔穿刺、羊水细胞培养和染色体核型分析进行产前诊断.通过本地区的三级妇幼保健网对本地区行产前唐氏综合征筛查或未行筛查的孕母分娩的新生儿进行临床随访,对可疑唐氏综合征的新生儿行外周血染色体核型分析进行诊断.正态分布计量资料采用均数±标准差(x-±s)表示,组间差异比较采用两独立样本t检验；计数资料用率表示,组间差异比较采用x2检验.唐氏综合征的危险概率用随机筛查软件进行统计分析. 结果 2007年10月至2010年5月,本地区共32 188例单胎妊娠孕妇接受筛查,唐氏综合征高风险者为1130例,低风险31 058例.高风险者中90.79％(1026/1130)接受产前诊断,确诊7例唐氏综合征胎儿均引产终止妊娠；另外104例未接受产前诊断的孕妇分娩1例唐氏综合征患儿.31 058例低风险者中新生儿出生后确诊唐氏综合征6例,发生率0.19‰.接受产前筛查者中唐氏综合征患病率为0.43‰(14/32 188).妊娠中期二联唐氏综合征筛查检出率为57.14％(8/14),假阳性率为3.48％(1122/32 188),阳性预测值为7.08‰(8/1130).同期,由于各种原因未接受唐氏综合征产前筛查的孕妇达到23 813例,分娩唐氏综合征患儿15例,患病率0.63‰.与接受筛查者中的患病率(0.43‰)差异无统计学意义(x2=1.004,P＞0.05).本地区唐氏综合征总体患病率为0.52‰(29/56 001). 结论 产前筛查和诊断可以减少唐氏综合征患儿出生.但本研究中妊娠中期二联唐氏综合征筛查法的检出率、假阳性率和阳性预测值均较低,可能与本研究所采用的正常值范围并不适用于中国人群有关.     

孕中期联合血清学和NIPT进行唐氏综合征筛查的回顾性分析

目的:探讨联合孕中期血清学筛查(second trimester serum screening,STSS)和胎儿染色体非整倍体无创DNA产前检测(noninvasive prenatal testing,NIPT)进行唐氏综合征(Down syndrome,DS)筛查在天津地区的临床应用价值。方法:对10 429例15~20~(+6)周妊娠妇女进行二联STSS,设定1/270为DS高风险切割值,所有妊娠妇女均具有妊娠结局随访记录。对二联STSS结果为DS高风险的妊娠妇女建议羊膜腔穿刺,同时告知NIPT的范围及局限性,由妊娠妇女自愿选择;建议二联STSS风险值在1/1 000~1/270之间(含1/1 000)的低风险妊娠妇女,及风险值小于1/1 000的高龄(预产期年龄≥35岁)妊娠妇女行NIPT。联合筛查结果以NIPT结果为最终筛查结果,若妊娠妇女没有进行NIPT,以二联STSS结果为最终筛查结果。结果:二联STSS的DS检出率为73.33%(11/15),假阳性率5.75%(600/10 429),阳性预测值为1.80%(11/611);NIPT的DS检出率为100%(13/13),阳性预测值为100%(13/13);孕中期联合筛查的DS检出率为93.33%(14/15),假阳性率为1.62%(169/10 429),阳性预测值为7.65%(14/183),较单纯二联STSS方案DS阳性预测值有所提高(P=0.000)。结论:联合STSS和NIPT的DS筛查能够提高二联STSS的阳性预测值,减少因侵入性产前诊断造成的胎儿流产,为天津地区提供可参考的DS产前筛查方案。     

对妊娠中晚期孕妇行超声检测胎儿鼻骨发育状况以筛查唐氏综合征

目的 探讨超声检测胎儿鼻骨发育状况对产前筛查唐氏综合征的临床应用价值.方法 2004年10月至2007年3月,应用二维超声对中山大学附属第一医院1863例中晚期孕妇(正常组)和25例妊娠唐氏综合征胎儿的孕妇(研究组)检测其胎儿鼻骨,观察两组中正常胎儿和唐氏综合征胎儿的鼻骨缺失、鼻骨短小的发生率.鼻骨缺失为胎儿面部矢状切面、横切面和冠状切面均未能显示鼻骨声像;鼻骨短小为鼻骨超声测值小于同孕周正常值的第2.5百分位数.计算鼻骨发育异常值筛查唐氏综合征的诊断试验结果.结果 (1)正常组孕妇中成功检测胎儿鼻骨1761例,102例受胎位等因素影响未能得到清晰图像,检测成功率为94.5%(1761/1863);(2)正常组中1761例胎儿鼻骨长度与孕周呈正相关关系(r=0.605,P＜0.05),其中鼻骨缺失3例(0.2%,3/1761),鼻骨短小44例(2.5%,44/1761);(3)研究组唐氏综合征胎儿中,鼻骨缺失7例(28.0%,7/25),鼻骨短小15例(60.0%,15/25);(4)以鼻骨缺失为截断值筛查唐氏综合征的敏感度为28.O%,特异度为99.8%,阳性似然比164.45(95%可信区间为45.11～599.60),阴性似然比0.72(95%可信区间为0.57～0.92);以鼻骨短小为截断值筛查唐氏综合征的敏感度为60.0%,特异度为97.5%,阳性似然比24.03(95%可信区间为7.15～80.71),阴性似然比0.41(95%可信区间为0.29～0.59).结论 胎儿鼻骨发育异常尤其是鼻骨缺失,与唐氏综合征关系密切,可作为产前超声筛查唐氏综合征的指标应用于临床.     

高龄孕妇唐氏综合征血清学筛查的价值

目的研究高龄孕妇(≥35岁)血清学筛查唐氏综合征的价值,以期减少羊膜腔穿刺的几率,避免医源性流产。方法对在复旦大学附属妇产科医院产检的10601名中期妊娠孕妇进行唐氏综合征的血清学筛查,采用血清学三联指标,即绒毛膜促性腺激素、非结合雌三醇、甲胎蛋白。通过Beckman公司的放射免疫仪测定计算上述三项指标的MoM值和唐氏综合征的患病风险。以1/380为切割值,并随访所有孕妇的妊娠结局。结果从2007年6月～2009年12月,共有10601名在复旦大学附属妇产科医院产检的适龄孕妇进行唐氏综合征的血清学筛查,高风险孕妇有899例,总的阳性率为8.48%。其中高龄孕妇有777例,其高风险例数有268例,阳性率为34.49%,明显高于年龄低于35岁的阳性风险率,后者为6.42%。在随访结果中,共有9例唐氏儿,其中4例为高龄孕妇所生。这4例唐氏综合征的血清学检查结果均为高风险,高龄孕妇的血清学筛查阴性结果中,没有出现唐氏儿。结论对于高龄孕妇,血清学筛查可作为第一线筛查手段,应与孕妇及家属探讨产前筛查的方法及各自利弊,由孕妇及家属决定是否直接接受羊膜腔穿刺。     

血清学筛查唐氏综合征高风险孕妇不良妊娠结局分析

目的:探讨血清学筛查唐氏综合征高风险与不良妊娠结局发生的关系。方法:以血清学筛查且唐氏综合征风险值≥1/270的孕妇列为高危组,唐氏综合征风险值1/270的孕妇列为低危组,对高危组、低危组的胎儿染色体病、系统超声检查结果、妊娠并发症、新生儿情况等进行分析。结果:807例高危组患者21-三体、超声结构畸形、自然流产、死胎、胎盘早剥、新生儿窒息发生率分别为1.36%(11/807)、4.96%(40/807)、4.09%(33/807)、2.11%(17/807)、1.12%(9/807)、1.36%(11/807),均高于低危组(n=1 614)的0.06%(1/1 614)、1.80%(29/1 614)、0.12%(2/1 614)、0.31%(5/1 614)、0.31%(5/1 614)、0.25%(4/1 614),差异均有统计学意义(P0.05)。结论:血清学筛查唐氏综合征高风险病例,不良妊娠结局发生率高。     

美国1974～1997年胎儿唐氏综合征筛查的实际效果

为提高唐氏综合征的检出率,用三联试验(即孕母血清AFP、E_3和hCG)对不同年龄孕妇进行唐氏综合征筛查。 用美国1974～1997年期间13～49岁各年龄女性所分娩活产儿的出生率统计结果,用敏感度,假阳性率,阳性预测值,似然比(敏感度/假阳性率)为指标评价了各种中孕期唐氏综合征筛查策略的实际效果。方案1,所有分娩时在35～49岁妇女为高危。方案2,假定所有妇女接受三联筛查并以1:270为截断值(cutoff)以检出高危者。方案3,认为所有35     

妊娠中期母血清生化标志物筛查唐氏综合征的临床价值

目的评价妊娠中期母血清生化标志物筛查唐氏综合征(21-三体综合征)的临床价值。方法1996年7月至2003年6月,南京市妇幼保健院用时间分辨荧光分析法对13175例妊娠14~20周的孕妇进行血清甲胎蛋白(AFP)、游离绒毛膜促性腺激素(free-β-HCG)检测,切割值1∶300,对高风险者行羊水检查。结果21-三体综合征及18-三体综合征的检出率为5.3/万,假阳性率为10.69%。唐氏综合征高风险组胎儿异常的发生率高于唐氏综合征低风险组(P<0.01)。≥35岁孕妇组胎儿异常的发生率高于<35岁孕妇组(P<0.05)。结论AFP、free-β-HCG可用于筛查唐氏综合征及胎儿异常。     

3405例产前诊断的指证及其结果评价

目的:分析产前诊断指证与胎儿染色体检测结果的关系。方法:3405例有产前诊断指证的孕妇,进行羊膜腔穿刺或脐静脉穿刺术,取羊水细胞或脐血细胞培养,作胎儿染色体核型分析。结果:3405例孕妇共检出胎儿染色体异常88例,染色体异常率为2.6%,显著高于一般人群的异常率(P<0.01)。其中夫妇一方为染色体平衡易位携带者组的胎儿染色体异常率达25.9%(7/27),产前胎儿超声异常标记组、孕母血清唐氏筛查阳性组和高龄孕妇组的异常率分别为6.2%(49/778)、1.7%(22/1283)和1.1%(7/664)。18-或21-三体儿妊娠史组、体外受精组、本次妊娠有先兆流产史组和孕期不良因素接触组,均未检出胎儿染色体异常。结论:出现胎儿染色体异常率最高的指证,依次为夫妇一方染色体平衡易位携带者、产前超声发现胎儿异常标记、孕母血清唐氏筛查阳性和高龄孕妇。有针对性地进行产前诊断,可有效地控制和减少出生缺陷的发生。     

唐氏综合征高危孕妇血液中游离胎儿DNA与人绒毛膜促性腺激素β亚单位水平变化的关系

目的 探讨唐氏综合征(DS)高危孕妇血液中游离胎儿DNA(fDNA)与人绒毛膜促性腺激素β亚单位(β-hCG)水平变化的关系及意义.方法 选择2005年6月至2008年2月在山东大学附属省立医院和济南市妇幼保健院行孕中期DS筛查的单胎妊娠男胎孕妇,其中DS筛查高危且确诊为妊娠DS胎儿孕妇5例(DS组),DS筛查高危孕妇21例(DS高危组),DS筛查低危孕妇22例(对照组).提取孕妇血浆中游离fDNA,以男性DYS14基因为fDNA的标志物;采用实时定量PCR技术定量检测孕妇血浆游离fDNA含量;采用化学发光免疫分析法测定孕妇血清中β-hCG水平.比较3组孕妇血液中游离fDNA的含量与β-hCG水平,并对两者行Pearson相关性分析.结果 (1)游离fDNA含量:DS组孕妇血浆中游离fDNA含量为(127±58)GE/ml,高于DS高危组的(78±28)GE/ml和对照组的(48±21)GE/ml,分别比较,差异均有统计学意义(P<0.01);DS高危组孕妇血浆中游离fDNA含量也高于对照组,差异也有统计学意义(P<0.01).(2)β-hCG水平:DS组孕妇血清β-hCG水平为(97±43)kU/L,高于DS高危组的(58±25)kU/L和对照组的(38±19)kU/L,分别比较,差异均有统计学意义(P<0.01);DS高危组孕妇血清β-hCG水平也高于对照组,差异也有统计学意义(P<0.01).(3)游离fDNA含量与β-hCG水平的相关性:3组孕妇血浆游离fDNA含量与血清β-hCG水平均呈正相关关系(r=0.83,P<0.05;r=0.76,P<0.01;r=0.86,P<0.01).结论 孕妇血浆中游离fDNA可作为产前筛查DS的候选指标,但由于游离fDNA与β-hCG水平变化密切相关,因此其价值有待商榷.     

Outcomes of multiple gestations with advanced maternal age

Objective.?To investigate outcomes of twin gestations with advanced maternal age (AMA).

Study design.?Historical cohort of twin gestations cared for by a maternal–fetal medicine faculty practice. Outcomes of patients with AMA (70) and non-AMA (75) were compared. AMA was defined as age ≥35. Analysis including mode of delivery, gestational age at delivery and overall complications was performed. Significance was determined using the chi-square test or the Student's t-test.

Results.?The Cesarean rate for AMA was significantly greater compared to non-AMA (80.0% vs. 54.7%; p = 0.001). The main reason for the increased rate was uterine dysfunction. The mean gestational age at delivery for AMA was significantly greater than for non-AMA (36.7 weeks vs. 35.4 weeks; p = 0.02). There were no differences in rates of other adverse outcomes including gestational hypertension, pre-eclampsia, gestational diabetes, suspected fetal growth restriction, preterm birth, low birth weight or low birth weight percentiles. This remained true when we compared the 32 women ages ≥40 years to 118 women ages <40 years.

Conclusion.?Among twin pregnancies, AMA women are not at an increased risk of adverse pregnancy outcomes, aside from an increased rate of cesarean delivery.     

Second trimester maternal serum markers and a predictive model for predicting fetal hemoglobin Bart’s disease

Objective: To compare the levels of maternal serum α-fetoprotein (AFP), unconjugated estriol (uE3) and free β-human chorionic gonadotropin (free β-hCG) between pregnancies with fetal Hb Bart’s disease and unaffected pregnancies. Methods: 148 pregnancies at risk of fetal Hb Bart’s disease scheduled for cordocentesis at 18 to 22 weeks were prospectively recruited into the study. AFP, uE3 and free β-hCG concentrations were measured before cordocentesis and the final fetal diagnosis of Hb Bart’s disease was based on fetal Hb typing using high-performance liquid chromatography. Results: AFP and free β-hCG were significantly higher whereas uE3 was lower in women with fetal Hb Bart’s disease than those with unaffected fetuses (1.94 MoM, 1.38 MoM and 0.81 MoM respectively). Hb Bart’s predictive model; probability = 1/1+e^{?[2.876 + 1.333(AFP) ? 6.310(uE3)]}, effectively predicted fetal Hb Bart’s disease (AUC ROC 0.91, 95% CI 0.84–0.97) with 61.5% sensitivity and 98.1% specificity using a cut-off probability at greater than 0.5. Conclusions: In triple test, serum AFP and hCG levels are significantly higher while serum uE3 is significantly lower in pregnancies with fetal Hb Bart’s disease. Hb Bart’s predictive model included AFP and uE3 is relatively effective and may be helpful in Hb Bart’s prenatal screening.     

Evaluation of maternal and perinatal outcomes among overweight women who experienced stillbirth

Objective: To investigate associations between overweight and adverse clinical outcomes among women who experienced stillbirth.

Methods: 234 pregnant women (stillbirth group, n?=?115; live birth group, n?=?119) were included in this retrospective case-control study. Recorded risk factors were age, gravidity, parity, gestational weeks, fetal birth weight, gestational diabetes mellitus (GDM), preeclampsia (PE), intrauterine growth restriction (IUGR), levels of prenatal test markers (alpha-fetoprotein (AFP), pregnancy-associated plasma protein, human chorionic gonadotropin (β-hCG) and E3) and body mass index (BMI).

Results: Statistically significant differences were observed between the groups in terms of birth weight, IUGR, GDM, PE, AFP level, β-hCG level, maternal E3 level and BMI (p?p?Conclusions: Women who experience stillbirth tend to be more overweight than those who experience live birth. Additionally, IUGR, GDM and PE are more common among overweight women. Therefore, overweight women should be encouraged to lose weight before pregnancy. If they become pregnant without losing weight, they should be followed up closely to avoid adverse perinatal outcomes.     

中孕期唐氏综合征筛查的结果分析及策略探讨

目的 探讨中孕期二联法产前筛查唐氏综合征(Down's syndrome,DS)的有效性.方法 回顾性分析1997年11月至2008年5月期间,在南京市妇幼保健院自愿接受采用时间分辨荧光免疫法检测血清甲胎蛋白(alpha-fetoprotein,AFP)+游离β-绒毛膜促性腺激素(beta subunit of human chorionic gonadotropin,β-hCG)二联法产前筛查60 931例孕妇中,妊娠结局为DS的50例孕中期(15～20+6周)筛查结果.结果 50例DS妊娠中,以游离β-hCG≥2.5 MoM为标准,DS共检出25例,检出率为50.0%,筛查阳性率为6.6%;以AFP≤0.5 MoM为标准,共检出DS 9例,检出率为18.0%,筛查阳性率为4.6%;当DS风险率高危切割值定为1/270时,检出率为52.0%,筛查阳性率为4.7%;如定为1/300时,DS检出率为62.0%,筛查阳性率为5.5%.风险值位于1/1000～1/300的DS妊娠共有13例,其中有2例单项指标异常.50例DS妊娠中经中孕期胎儿结构系统B超检查发现有一种或多种异常指标的共有13例,占26.0%,其中12例血清二联筛查结果 为高风险,1例为低风险.结论 AFP+游离β-hCG二联产前筛查可以有效检出DS妊娠,但特异性和敏感性均有待提高,结合单项指标异常可以增加DS妊娠检出率.中孕期胎儿结构系统B超检查对DS妊娠检出率较低,但可以提高血清学产前筛查的特异性和敏感性.

Abstract：

Objective To approach the efficiency of second-trimester prenatal screening using two serum markers for Down's syndrome (DS).Methods Retrospective analysis was conducted on the results of prenatal screening using two serum markers,alpha fetoprotein (AFP) and free beta subunit of human chorionic gonadotropin(free-β-hCG),in 50 cases of DS pregnancy identified among 60 931 pregnant women received prenatal screening from November 1997 to April 2008 in Nanjing Maternal and Child Health Hospital.Results Among the 50 DS cases,the detection rate of DS was 50% (25/50) when taking free-β-hCG≥2.5 MoM as the cut-off,with the positive rate of screening was 6.6%.And the detection rate of DS would be 18.0%(9/25) when taking AFP≤0.5 MoM as the cut-off,with the positive rate of screening was 4.6%.When the risk cut-off value of DS was set at 1/270,the detection rate changed to 52.0%,and the positive rate of screening was 4.7%;and the two figures changed to 62.0% and 5.5%,respectively,when the risk cut-off was set to 1/300.Thirteen DS cases showed the risk value between 1/1000 and 1/300,among which two were monomarker abnormality.Thirteen (26.0%) of the 50 DS fetus were found to have one or two abnormality markers by ultrasound scan,among which one was DS low risk,and the other 12 were DS high risk in serum screening.Conclusions The second-trimester prenatal screening using AFP or free β-hCG for Down's syndrome is effective in identifying DS pregnancy with limited specificity and sensitivity.But the detection rate can be elevated by the combination of these two markers.The second trimester systemic ultrasound scan is not ideal for DS identification,but it can increase the specificity and sensitivity of serum prenatal screening.     

Antenatal screening of maternal alpha-fetoprotein with dried-blood spot samples on filter paper]

Abnormal levels of maternal serum alphafetoprotein (AFP) have been used as a good biochemical marker for the screening of neural tube defects (NTD) and Down syndrome. From January 1988 to June 1989, we conducted a community-based maternal AFP screening program in Nan-Tou County, which is located in the middle of Taiwan. A total of 3,776 pregnant women, which accounted for about 42% of the total number of women pregnant during that period of time in Nan-Tou county, were screened using the filter paper blood collecting technique. Of those screened, 5.1% of them were found to be borderline positive for NTD (2.0 less than MoM less than 2.5). The screening positive rates for NTD (MoM greater than 2.5) and Down syndrome (Down's risk greater than 1/100) were 3.7% and 1.7%, respectively. Except for those lost to follow-up, 3 (2.1%) of the borderline cases were confirmed to have serious pregnancy complications (porencephaly, fetal demise, and imminent miscarriage). Eleven (10.8%) of the abnormal pregnancies, which included 1 case of possible hydrocephalus, 2 cases of anencephalus, and 1 case of triploid, were found in the NTD positive group. Six (18.7%) anomalies (1 Down syndrome, 1 hydatidiform mole, and 4 miscarriages) were detected in the increased Down's risk group. Totally, 20 adverse pregnancies, i.e. 0.5% (20/3,776) of the screened women, were confirmed in this screening program. No false-positive cases were reported, or were found among the 1,777 post-delivery questionnaires completed.(ABSTRACT TRUNCATED AT 250 WORDS)     

The effectiveness of antepartum surveillance in reducing the risk of stillbirth in patients with advanced maternal age

Objective

To estimate the effectiveness of antepartum surveillance and delivery at 41 weeks in reducing the risk of stillbirth in advanced maternal age (AMA) patients.

Study design

Retrospective cohort study of all patients managed in one maternal–fetal medicine practice from June 2005 to May 2012. We included all singleton pregnancies delivered at ≥20 weeks of gestation. All AMA patients (age ≥35 years at their estimated delivery date) underwent weekly biophysical profile testing beginning at 36 weeks, as well as planned delivery at 41 weeks, or sooner if indicated. We compared the rate of fetal death at ≥20 weeks and fetal death at ≥36 weeks in AMA vs. non-AMA patients. Fetal deaths due to lethal and chromosomal abnormalities were excluded.

Results

4469 patients met the inclusion criteria: 1541 (34.5%) were AMA and 2928 (65.5%) were non-AMA. Using our AMA protocol for surveillance and timing of delivery, the incidence of stillbirth was similar to the non-AMA population (stillbirth ≥20 weeks: 3.9 per 1000 vs. 3.4 per 1000, p = 0.799; stillbirth ≥36 weeks: 1.4 per 1000 vs. 1.1 per 1000, p = 0.773). When looking at women age <35, age 35–39, and age ≥40, the incidence of stillbirth ≥20 weeks and ≥36 weeks did not increase across the three groups. Our findings were similar when we excluded all patients with other indications for antepartum surveillance.

Conclusions

In AMA patients, antepartum surveillance and delivery at 41 weeks appears to reduce the risk of stillbirth to that of the non-AMA population. Routine antepartum surveillance should be considered in all AMA patients.     

Association between uterine leiomyomas and the biochemical screening test results in the first and second trimester of pregnancy: a pilot study

Objectives.?The presence of the uterine leiomyomas may change the concentrations of the screening serum markers and so after the risk calculation of the fetal chromosomal abnormalities.

Purpose.?To estimate the influence of the uterine leiomyomas on the first and second trimester serum markers concentrations.

Material and methods.?The studied group consisted of 127 women between 11 and 20 weeks of normal singleton pregnancy. In each patient, the uterine leiomyomas were diagnosed – over 20?mm in the diameter and located in the uterine wall. Seventy-seven patients had undergone the first trimester screening, 50 patients the second trimester screening. The control group consisted of 1020 women between 11 and 20 weeks of normal singleton pregnancy without uterine leiomyomas.

Results.?In the first trimester group, the pregnancy-associated plasma protein A serum concentrations were not different from the controls. The median concentrations of free beta-human chorionic gonadotrophin (β-hCG) were significantly higher (1.43 MoM). In the second trimester group, no significant differences in AFP and estriol median concentrations were observed, while the median value for free β-hCG was significantly higher (2.01 MoM) than in control group.

Conclusions.?The presence of the uterine leiomyomas may increase maternal serum concentration of the β-hCG and so after the rate of the false positive results of the prenatal screening tests.     

孕中期母血清三联标记物预测Hb Bart's水肿胎初探

目的:探讨孕中期母血清三联标记物对Hb Bart's水肿胎的预测价值。方法:采用全自动时间荧光分辨法检测孕中期母血清甲胎蛋白(AFP)、游离β-人绒毛膜促性腺激素(freeβ-HCG)和非结合雌三醇(μE3)水平,母血清三联标记物水平以中位数倍数(MoM)表示。比较23例Hb Bart's水肿胎和230例正常孕妇的孕中期母血清三联标记物水平,并采用ROC曲线分析其对Hb Bart's水肿胎的预测价值。结果:Hb Bart's水肿胎组母血清freeβ-HCG明显高于对照组(2.51 MoM vs 1.02 MoM,P<0.05),两组AFP和μE3无统计学差异(P>0.05)。freeβ-HCG预测Hb Bart's水肿胎的曲线下面积为95.0%,以1.32 MoM为切割值,敏感度和特异度分别为95.7%和89.6%。结论:孕中期母血清freeβ-HCG对Hb Bart's水肿胎具有较高的预测价值。