唐氏综合征产前血清学筛查临界值的分析

目的 探讨妊娠中期孕妇血清二联法筛查唐氏综合征高危切割值1:380与1:270的筛查价值.方法 采用化学发光法对11 368例孕妇妊娠中期血清进行二联法检测,计算唐氏综合征高危风险值,比较高危切割值1:380及1:270对胎儿染色体异常或胎儿丢失的检出率差异.结果 高危切割值为1:380时,有941例为唐氏高危,筛查阳性率为8.28%(941/11 368),随访847例,其中确诊21三体4例,21三体阳性预测值为0.47%(4/847);胎儿有临床意义的其他染色体异常4例:1例18三体,1例13三体,1例45X,1例45X/46XX(5:95),占高危总数的0.47%(4/847).高危切割值为1:270时,有521例为唐氏高危,筛查阳性率为4.58%(521/11 368),随访458例,上述8例胎儿染色体异常的孕妇均在其中,21三体阳性预测值为0.87%(4/458);胎儿有临床意义的其他染色体异常4例,占高危总数的0.87%(4/458).高危切割值为1:380时,唐氏髙危孕妇中因其他原因(死胎、胎儿畸形、宫内发育迟缓)引/流产者共计15例,新生儿畸形3例;以1:270为临界值,唐氏髙危孕妇中因其他原因引/流产者共计13例,新生儿畸形2例,筛查值＞1:270与筛查值＞1:380的孕妇其胎儿丢失和新生儿畸形的发生率间差异无统计学意义(χ2=1.595,P=0.207).结论 将高危切割值定在1:270,筛查阳性率降低的同时,漏诊率未显著增加,更具临床筛查价值.     

阴道分泌物胎儿纤维连接蛋白与宫颈长度联合预测早产的多中心前瞻性研究

Objective To discuss the clinical value of fetal fibronectin (fFN) and cervical length in predicting preterm birth. Methods Totally, 511 pregnant women at 22-35 weeks of gestations were enrolled from Dec. 2006 to Dec. 2007 at 4 tertiary hospitals in Beijing, and all with either symptoms or high risk factors of preterm birth, but without preterm premature rupture of membrane or vaginal bleeding. Cervical fFN were determined and cervical length of each subjects were measured by ultrasound. The pregnancy outcomes were compared. Results The sensitivity, specificity and negative predictive value (NPV) of fFN in predicting preterm birth within 7 d were 77.4%, 69.4% and 97. 9%, respectively; and 70.5%, 70.0% and 96.2% for deliveries within 34 weeks. The above figures changed to 54.8%, 66.3%, 95.8% for deliveries within 7 d and 59.1%, 67.2%, 94.6% for those within 34 weeks, respectively, when cervical length ≤3 cm was applied to predict preterm birth. When fFN and cervical length were combined, the sensitivity, specificity and NPV were 51.6%, 87.1%, 96.5% for deliveries within 7 d, and 45.5%, 87.60/00, 94.5% for those within 34 weeks, respectively. Conclusions FFN has higher NPV and specificity than cervical length in predicting preterm birth within 7 d and 34 weeks, and the positive predictive value and specificity can be improved when combined with cervical length.     

胎儿医学的现状与展望

胎儿医学作为一种快速新兴学科,将产科学、儿科学、外科学、影像学、遗传学、生物学、生物化学、伦理学等众多不同领域的学科有机结合在一起。临床上以母体医学为基础,将胎儿视为完整个体,从而给予全面的监测与管理[1-3]。近年来,随着医学临床转化日臻迅速,胎儿遗传检测技术不断发展,胎儿医学在诸多方面取得了长足发展,包括出生缺陷的筛查、诊断进而开展预防或治疗,多胎妊娠的管理等工作[4-6]。以出生缺陷防治工作为例,自20世纪90年代末至今,作为我国围产保健领域的重点,从科学研究到临床实践,乃至国家各级行政管理等都给予高度重视,从卫生经济学角度出发,贯彻三级预防理念,特别是在计划妊娠女性中,增补小剂量叶酸预防开放性神经管畸形发生[4],胎儿常见染色体异常(21号染色体三体综合征等)常规产前筛查和产前诊断。此外,胎儿结构畸形在出生缺陷中占有一定比例,高水平产前超声筛查技术水平能够及时诊断出胎儿结构异常,并进行适当干预。随着细胞分子产前诊断技术以及包括MRI在内的影像学检查水平的提高,产前诊断水平飞速发展,为进一步有效合理的早期胎儿宫内干预提供可能,并进一步改善胎儿近、远期预后。     

11003例唐氏综合征筛查分析

目的评价本院近3年对胎儿唐氏综合征（Down＇s syndrome）的产前筛查工作效果。方法以2006年1月至2008年11月在北京大学第一医院妇产科就诊,妊娠时间为14～20^＋6孕周,接受产前胎儿唐氏综合征筛查的11003例孕妇为研究对象。将其按年龄分为高龄组（预产期时年龄≥35岁,n=602）和低龄组（预产期时年龄〈35岁,n=10401）（本研究遵循的程序符合本院人体试验委员会所制定的伦理学标准,得到该委员会批准,征得接受筛查者的知情同意,并与之签署临床研究知情同意书）。采用回顾性分析法对其行血清甲胎蛋白（α-fetoprotein,AFP）和游离β-人绒毛膜促性腺激素（human chorionic gonadotrophin,HCG）二联指标检测,利用随机配载软件计算胎儿唐氏综合征风险,对高危者进行遗传咨询,建议行介入性产前诊断,由专人随访所有筛查者妊娠结局,并计算筛查胎儿唐氏综合征效率和安全性。结果①11003例孕妇中,共筛查出胎儿唐氏综合征高危孕妇831例（高危组）,共检出胎儿唐氏综合征6例,最终确诊为3例。其中,2例于孕晚期行超声检查提示胎儿结构异常。②11003例孕妇胎儿唐氏综合征筛查时,若以1／380为高危切割值,则筛查出胎儿唐氏综合征高危孕妇831例,妊娠中期血清学二联指标对胎儿唐氏综合征的检出率为66．7％（6／9）,假阳性率为7．5％（829／10998）,阳性预测值为0．72%（6／831）。若选择1／270为高危切割值,则筛查出胎儿唐氏综合征高危孕妇534例,检出率仍为66．7％（6／9）,假阳性率则降为4．8％（527／10998）,阳性预测值达1．12％（6／534）。高龄组中胎儿唐氏综合征筛查检出率和阳性预测值类似于低龄组,但假阳性率稍高（27．45％vs．6．39％）。③安全性评价：羊膜腔穿刺或脐血穿刺检查,无一例发生流产。结论对所有采用胎儿唐氏综合征的妊娠中期血清学二联指标产前筛查孕妇的筛查后遗传咨询和确诊不容忽视。对高龄产妇应采取个体化胎儿唐氏综合征筛查和诊断策略,可降低介入性产前诊断比例和风险。结合超声检查结果在避免唐氏综合征患儿出生中具有一定的作用。     

手术患者的心理护理程序探讨

1需要与期待 患者入院后,需要安静的环境,新鲜的空气,合适的温湿度,舒适的床铺,充分的休息和睡眠,营养丰富的饮食等.由于术前患者常把注意力集中在"开刀"二字上,因而殷切期待医护人员的关心、照顾和爱护,护士应主动提供患者所迫切需要知道的信息.患者会暗中注视着医护人员的一举一动.     

阴道分泌物胎儿纤维连接蛋白与宫颈长度联合预测早产的多中心前瞻性研究

Objective To discuss the clinical value of fetal fibronectin (fFN) and cervical length in predicting preterm birth. Methods Totally, 511 pregnant women at 22-35 weeks of gestations were enrolled from Dec. 2006 to Dec. 2007 at 4 tertiary hospitals in Beijing, and all with either symptoms or high risk factors of preterm birth, but without preterm premature rupture of membrane or vaginal bleeding. Cervical fFN were determined and cervical length of each subjects were measured by ultrasound. The pregnancy outcomes were compared. Results The sensitivity, specificity and negative predictive value (NPV) of fFN in predicting preterm birth within 7 d were 77.4%, 69.4% and 97. 9%, respectively; and 70.5%, 70.0% and 96.2% for deliveries within 34 weeks. The above figures changed to 54.8%, 66.3%, 95.8% for deliveries within 7 d and 59.1%, 67.2%, 94.6% for those within 34 weeks, respectively, when cervical length ≤3 cm was applied to predict preterm birth. When fFN and cervical length were combined, the sensitivity, specificity and NPV were 51.6%, 87.1%, 96.5% for deliveries within 7 d, and 45.5%, 87.60/00, 94.5% for those within 34 weeks, respectively. Conclusions FFN has higher NPV and specificity than cervical length in predicting preterm birth within 7 d and 34 weeks, and the positive predictive value and specificity can be improved when combined with cervical length.     

阴道分泌物胎儿纤维连接蛋白与宫颈长度联合预测早产的多中心前瞻性研究

Objective To discuss the clinical value of fetal fibronectin (fFN) and cervical length in predicting preterm birth. Methods Totally, 511 pregnant women at 22-35 weeks of gestations were enrolled from Dec. 2006 to Dec. 2007 at 4 tertiary hospitals in Beijing, and all with either symptoms or high risk factors of preterm birth, but without preterm premature rupture of membrane or vaginal bleeding. Cervical fFN were determined and cervical length of each subjects were measured by ultrasound. The pregnancy outcomes were compared. Results The sensitivity, specificity and negative predictive value (NPV) of fFN in predicting preterm birth within 7 d were 77.4%, 69.4% and 97. 9%, respectively; and 70.5%, 70.0% and 96.2% for deliveries within 34 weeks. The above figures changed to 54.8%, 66.3%, 95.8% for deliveries within 7 d and 59.1%, 67.2%, 94.6% for those within 34 weeks, respectively, when cervical length ≤3 cm was applied to predict preterm birth. When fFN and cervical length were combined, the sensitivity, specificity and NPV were 51.6%, 87.1%, 96.5% for deliveries within 7 d, and 45.5%, 87.60/00, 94.5% for those within 34 weeks, respectively. Conclusions FFN has higher NPV and specificity than cervical length in predicting preterm birth within 7 d and 34 weeks, and the positive predictive value and specificity can be improved when combined with cervical length.     

经阴道与经腹超声检测宫颈长度预测早产的价值

目的 研究超声检测宫颈长度对早产高危孕妇和先兆早产孕妇发生早产的预测价值,并对经阴道和经腹两种方法进行比较.方法 2006年9月至2007年12月在北京四家医院对515例早产高危孕妇和先兆早产孕妇分别经腹和经阴道超声检测宫颈长度,以宫颈长度(cervical length,CL)<3cm为宫颈缩短,追踪妊娠结局,比较两种方法对早产的预测意义.结果 研究对象总的早产率为22.1%(114/515),其中295例经阴道超声检测宫颈长度,220例经腹检测宫颈长度.经阴道测量组早产率为21.4%(63/295),经腹测量组早产率为23.2%(51/220),两组无统计学意义(P=0.622).经阴道测量组CL<3cm者96例,其早产率为36.5%(35/96),CL≥3.0cm者199例,早产率为14.1%(28/199),CL<3cm组早产率显著高于CL≥3.0cm组的早产率(P<0.01).经腹测量组CL<3cm者35例,其早产率为48.6%(17/35)显著高于CL≥3.0cm组孕妇的早产率,其早产率为18.4%(34/185)(P<0.01).经阴道超声测量的CL<3cm预测早产的敏感性为55.6%(35/63),经腹测量预测早产的敏感性为33.3%(17/51).前者显著高于后者(P=0.022).结论 超声检测宫颈长度对早产高危孕妇和先兆早产孕妇发生早产有一定的预测意义,在不能经阴道检测时,经腹测量宫颈长度对早产预测也有一定帮助.     

“第七届国际都哈会议”会议纪要

第七届国际都哈(健康与疾病的发育起源,developmental origin of health and disease,DOHaD)会议于2011年9月18～21日在美国俄勒冈州波特兰市召开.都哈即健康与疾病发育起源学说,主要是指诸如心血管疾病、糖尿病、慢性呼吸系统疾病、癌症等成年慢性非传染性疾病( noncommunicable diseases,NCD),其病因并不限于多基因遗传和成年生活方式的选择.     

435例先天缺陷患儿细胞遗传学分析

染色体病是由染色体数目或结构异常所导致的疾病,是遗传性疾病中很重要的一大类[1].染色体病临床上常常表现为智力低下、生长发育落后、多发畸形、惊厥发作、性发育障碍等先天异常.识别染色体病对疾病的病因诊断有重要意义.现将2008年1月至2011年6月在北京大学第一医院就诊的疑似或需排除染色体病患儿的细胞遗传学检测结果进行分析和总结,探讨近几年开展产前诊断工作的成效和今后产前诊断工作需要努力的方向.