渭源县2009—2012年出生缺陷监测结果与分析

目的：了解我县2009年3月至2012年3月出生缺陷发生情况及影响因素,并提出相应的干预措施。方法：监测12家分娩医院孕28周至产后7天内的13598例围产儿。结果：出生缺陷的发生率2．9％0,出生缺陷前5位是多指（趾）、外耳畸形,神经管畸形,唇腭裂（含唇裂、腭裂）、唇裂,结论：加强宣教,加强婚前、孕前保健,加强产前检查和产前诊断,可降低出生缺陷发生率。,     

神经营缺陷的产前筛查与诊断

神经营缺陷的产前筛查与诊断６１００４１华西医科大学附属第二医院曾敏６１００４１中国出生缺陷监测中心神经管缺陷指的是无脑畸形、开放性脊柱裂以及脑膨出。它们是人类常见而又严重的一组先天畸形。从国家“七五”重点科技攻关课题“中国围产儿出生缺陷监测及高危高发...     

70例尸检所见神经管畸形的病理学分析

目的通过病理解剖,了解山西吕梁农村地区神经管畸形的检出率及病理特点.方法对三个县（6个解剖单位）的孕20～28周中期引产胎儿及7 d内死亡围产儿（含死胎、死产及活产儿）,逐一在当地进行详细的尸体解剖,并带回制片做全面镜检.结果70例中发现神经管畸形25例,占尸检的35.7%.其中胎儿为41.5%（17/41）,围产儿为27.6%（8/29）,多为复合畸形.常见的神经管畸形为各种类型的脊柱裂、先天性脑积水、无脑儿及脑膜脑膨出等.结论该地区尸检的畸形检出率明显高于城市,吕梁地区为神经管畸形的高发区.     

细胞因子与神经管缺损

神经管缺损(NTDs)是一组最常见的多病因先天畸形,根据孕早期神经管发育受阻导致闭合不全的时期及部位的不同,主要类型有无脑畸形、脊柱裂和脑膨出,是脑和脊柱的严重出生缺损,其最常见的类型是脊柱裂和无脑畸形,是影响围生儿死亡和致残的主要因素之一.NTDs是遗传因素和环境因素共同作用的结果,神经生长因子、转化生长因子β和肿瘤坏死因子α等多种细胞因子在妊娠期表达异常是导致NTDs的重要因素之一.     

2009年统计年度阳曲县围产儿出生缺陷监测分析

目的:了解阳曲县2009年出生缺陷的发生情况,探讨出生缺陷的相关因素,为减少出生缺陷制定预防保健措施提供依据。方法:按照《山西省出生缺陷监测方案》对2009年统计年度15个监测医院孕28周至产后7天内分娩的围产儿出生缺陷监测资料进行分析。结果:1099例围产儿出生缺陷发生率为136.49/万(15/1099);出生缺陷发生居前5位的依次是:马蹄内翻足、脑积水、脑膜膨出、外耳畸形、脊椎裂;城镇出生缺陷发生率高于农村,男女婴出生缺陷发生比例是7:8,但其差异均无统计学意义。结论:阳曲县出生缺陷以神经管畸形为主。     

2009年长春市出生缺陷监测资料分析

目的:为更好的研究和分析长春地区国产儿出生缺陷发生的动态情况,为上级和有关部门制定预防措施提供真实数据。方法:按照中国出生缺陷监测中心制定的出生缺陷诊断及统计标准要求,采用全国统一出生缺陷儿登记卡及围产儿季报表,专人逐项填写,按季上报,并由省、市、区三级监测指导单位分级进行质控。结果:共监测国产儿55281例,出生缺陷儿538例,出生缺陷发生率97.32/万;围产儿死亡507例,围产儿死率91.71/万;出生缺陷前6位依次为总唇腭裂、先天性心脏病、多指、外耳畸形、神经管畸形、脑积水:产母年龄35岁以上为出生缺陷高发年龄。结论:应加强优生知识的宣传,定期孕检,提高产前诊断技术,降低出生缺陷儿的发生率,提高人口质量。     

彩色多普勒超声产前诊断对胎儿畸形的临床分析

目的：探讨彩色多普勒超声产前诊断对胎儿畸形的临床应用。方法：对146例胎儿进行彩色多普勒超声产前诊断,对结果提示异常进行分析。结果：唇裂（含腭裂）畸形9例,占6．16％,神经管畸形18例,占12．3％;先天性心脏畸形90例,占61．6％;肢体畸形20例,占13．7％;肾积水2例;肾多囊样改变1例;肝囊肿2例;腹裂畸形3例;多发畸形1例。结论：彩色多普勒超声对产前腹中的胎儿畸形的诊断比较准确,对临床的应用具有非常重要的价值。     

产前超声筛查胎儿唇裂和(或)腭裂及相关畸形

目的 评估产前超声对胎儿唇裂和(或)腭裂(简称唇腭裂)的检出率,以及合并的相关结构及染色体异常的发生情况. 方法 本研究为回顾性分析,纳入2006年1月至2010年12月在广州市妇女儿童医疗中心进行常规产前检查并分娩的单胎妊娠孕妇31 245例,于妊娠中期常规行胎儿超声筛查,发现唇腭裂的胎儿建议行染色体核型分析.所有活产新生儿及引产儿均进行口腔检查,以确诊唇腭裂,分析产前诊断的准确性. 结果 所有活产新生儿及引产儿共诊断唇腭裂48例,发生率为1.5‰(48/31 245),其中单纯唇裂占33.3％(16/48),唇裂合并腭裂占43.8％(21/48),单纯腭裂占22.9％(11/48).产前超声共发现18例单纯唇裂,其中14例与生后/引产后诊断完全相符,单纯唇裂产前超声诊断准确率为77.8％(14/18);3例分娩后发现新生儿同时合并腭裂,补充诊断为唇裂合并腭裂;1例产前超声诊断唇裂,因羊水过少引产,但引产儿无唇裂.产前超声检出18例唇裂合并腭裂,生后/引产后证实产前超声诊断均正确.2例胎儿产前超声检查正常,但新生儿检查发现单纯唇裂,均为Ⅰ度.产前超声未检出单纯腭裂,但新生儿生后诊断单纯腭裂11例.产前超声检出唇裂及唇裂合并腭裂的敏感性为86.5％(32/37),检出唇腭裂总的敏感性为66.7％(32/48),假阳性率为2.1％(1/48).产前超声诊断36例唇腭裂胎儿中10例(27.8％)合并其他结构畸形,与生后检查结果一致.产前检出18例唇裂合并腭裂胎儿中9例行染色体检查,其中 7例染色体异常.产前超声检出的36例唇腭裂胎儿中仅13例(12例单纯唇裂,1例唇裂合并腭裂)正常分娩,余23例孕妇均选择引产. 结论 产前超声筛查单纯唇裂及唇裂合并腭裂敏感性高,但难以检出单纯腭裂.单纯唇裂合并染色体异常概率低,而一旦合并腭裂,合并染色体异常及其他结构异常的风险增高.     

叶酸代谢相关基因与神经管畸形发生关系的研究进展

神经管畸形是在胚胎发育过程中,由于神经管闭合不全所引起的一组缺陷,包括无脑畸形、脑膨出、脊柱裂、脑脊膜膨出等.世界范围内神经管畸形发病率为0.05%～0.2%[1].我国是神经管畸形的高发国家,每年大约有8万～10万例神经管畸形患儿出生,其中山西省发生率最高可达1.02%[2].因此,神经管畸形是最常见的人类出生缺陷之一,其危害极大,严重影响患儿的生理发育和生活质量,也给家庭和社会带来沉重的精神压力和经济负担.     

拉萨市人民医院7014例围产儿出生缺陷的回顾性分析

目的初步了解拉萨地区围产儿出生缺陷发生情况,探索相关影响因素。方法对拉萨市人民医院2012年1月至2015年12月出生的7 014例围产儿出生缺陷资料进行回顾性分析。结果围产儿共7 014例,出生缺陷59例,发生率为8.41‰。出生缺陷的顺位排序前5位依次为:多指(趾)畸形、唇腭裂、神经管畸形、脑积水、马蹄足内(外)翻。Logistic多因素回归分析,产妇文化程度和产检次数对出生缺陷率的影响有统计学意义(P0.05)。结论拉萨地区应健全出生缺陷筛查体制;重视三级预防,推行规范产前筛查和产前诊断,减少缺陷儿出生,提高人口质量。     

Evaluation of a rapid optical immunoassay-based test for group B streptococcus colonization in intrapartum patients

Objective.?To investigate the association between cleft lip and/or palate and perinatal mortality.

Methods.?A retrospective review was performed of cases of cleft lip/palate born to West Midlands residents from 1995 to 1997. Perinatal mortality for identified cases was compared with all births from 1995 to 1997.

Results.?347 cases of cleft lip and/or cleft palate were delivered from 1995 to 1997. Thirty-six pregnancies were terminated due to parental wishes - 2 were registerable births. There were 310 spontaneous registerable births (stillbirths/livebirths) with cleft lip and/or palate and 1 further late fetal loss. In 220 (70.5%), the lesion was isolated. Of these, there were 7 perinatal deaths, 5 had post mortems and no additional anomalies were identified. In 92 (29.5%) cases other abnormalities were identified. The overall perinatal mortality rate (PNMR) in the West Midlands, was 10.0/1000 total births. The overall PNMR for babies with facial clefts was 89.7/1000 total births. The PNMR for those with associated anomalies was 228.3/1000 live/still births. The PNMR for isolated facial clefts was 31.8/1000 live/still births, significantly higher than the background population (OR 3.3, 95% CI: 1.5–7.0).

Conclusion.?Consideration should be given to screening the fetus at 20–24 weeks for facial deformity. This has implications for detection both of fetal anomalies and of a population at risk for adverse outcome.     

Are isolated facial cleft lip and palate associated with increased perinatal mortality? A cohort study from the West Midlands Region, 1995-1997.

OBJECTIVE: To investigate the association between cleft lip and/or palate and perinatal mortality. METHODS: A retrospective review was performed of cases of cleft lip/palate born to West Midlands residents from 1995 to 1997. Perinatal mortality for identified cases was compared with all births from 1995 to 1997. RESULTS: 347 cases of cleft lip and/or cleft palate were delivered from 1995 to 1997. Thirty-six pregnancies were terminated due to parental wishes--2 were registerable births. There were 310 spontaneous registerable births (stillbirths/livebirths) with cleft lip and/or palate and 1 further late fetal loss. In 220 (70.5%), the lesion was isolated. Of these, there were 7 perinatal deaths, 5 had post mortems and no additional anomalies were identified. In 92 (29.5%) cases other abnormalities were identified. The overall perinatal mortality rate (PNMR) in the West Midlands, was 10.0/1000 total births. The overall PNMR for babies with facial clefts was 89.7/1000 total births. The PNMR for those with associated anomalies was 228.3/1000 live/still births. The PNMR for isolated facial clefts was 31.8/1000 live/still births, significantly higher than the background population (OR 3.3, 95% CI: 1.5-7.0). CONCLUSION: Consideration should be given to screening the fetus at 20-24 weeks for facial deformity. This has implications for detection both of fetal anomalies and of a population at risk for adverse outcome.     

上海市10年出生缺陷监测情况分析

目的 了解近10年来上海市出生缺陷的发生、消长趋势及存在的问题,为采取相应的干预措施提供依据。方法 采用回顾性调查方法,以无脑儿、脑积水、脊柱裂、脑膨出、腹裂和联体双胎6种致死率高、伤残性大且孕中期大多可通过B超发现的主要形态畸形及其他畸形,进行专题回顾性个案调查。结果 上海市近10年出生缺陷发生率为8.42‰,前3位依次为先心病、多指和唇腭裂。与全国相比除先心病、21-三体、尿道下裂、唇裂、腭裂和小耳的发生率高于全国水平外,其余都较低。在198例21-三体中,产妇35岁以上者占34.34％;主要形态畸形的产前确诊率为60.64％,平均确诊时间在孕30周以上。所有出生缺陷儿的围产期死亡率为23.27％。结论 上海市出生缺陷发生率低于全国水平,但产前诊断的覆盖率和质量还需提高。     

Prenatal detection of facial clefts

OBJECTIVES: To determine (1) the antenatal detection rate for isolated cleft lip and/or cleft palate during the routine anomaly scan; (2) the correlation between prenatal diagnosis and postnatal findings, and (3) the association of apparently isolated cleft lip and/or cleft palate with other anomalies, in particular chromosomal abnormalities. METHOD: A population-based retrospective analysis of all cases of isolated cleft lip and/or cleft during an 8-year period in an academic teaching hospital in the UK. RESULTS: Thirty-nine cases of isolated cleft lip and/or cleft palate were identified among deliveries at the hospital. Twenty-eight cases had a routine anomaly scan. Fourteen cases were detected prenatally (sensitivity 50%). None of the isolated cleft palates was detected, while 14 of 20 cases of cleft lip (70%) were detected. One of the isolated cases of cleft lip was associated with trisomy 21, while 3 of the isolated cleft palate cases were associated with the Pierre Robin syndrome. In all cases, an antenatal diagnosis of cleft was confirmed following delivery or post-mortem examination (specificity 100%). CONCLUSIONS: Ultrasound is a useful tool in screening for cleft lip with or without cleft palate, but not for cleft palate alone. Even with an isolated cleft lip, there is an increased risk of chromosomal abnormality. The role of prenatal education and support is extremely important in the preparation of prospective parents and can help alleviate the shock which occurs when there is an unexpected cleft at birth.     

产前诊断唇腭裂308例回顾性研究

目的:探讨胎儿唇腭裂与染色体异常的关系,为该疾病的临床咨询及预后评估提供依据。方法:回顾性分析我院2008年1月至2016年12月所有超声诊断为唇裂/腭裂/唇腭裂的308例孕妇的产前诊断情况,比较不同类型唇腭裂的超声表型特征及染色体异常的发生率。结果:(1)超声诊断结果显示,在308例唇腭裂胎儿中非综合征型唇腭裂258例(83.77%),综合征型唇腭裂50例(16.23%),其中单纯唇裂40例(12.99%),唇裂合并腭裂266例(86.36%),单纯腭裂2例(0.65%)。(2)同意进行产前诊断137例(44.48%),染色体异常共22例(16.06%),其中23例综合征型唇腭裂中发现染色体异常共12例(52.17%),分别为13-三体8例(66.67%),18-三体2例(16.67%),三倍体2例(16.67%);而在114例非综合征型唇腭裂中发现染色体异常10例(8.77%),分别为18-三体1例,21-三体1例,标记染色体1例,发现基因微缺失微重复等遗传综合征4例(B超检查均无任何软指标及除唇腭裂外的其他结构异常),臂间倒位等染色体多态性3例。染色体基因芯片分析(CMA)检测的染色体异常检出率为16.16%(16/99),染色体核型分析异常检出率为15.79%(6/38)。(3)随访到204例患者,186例患者选择引产,18例患者出生后进行手术干预治疗。结论:唇腭裂胎儿染色体异常发生率较高,建议对所有类型唇腭裂均进行产前诊断;CMA检测可以发现除非整倍体外的拷贝数变异,建议对唇腭裂胎儿优选基因芯片进行产前诊断。     

广东省1996年至2004年监测出生缺陷发生情况分析

目的 了解广东省出生缺陷的变化趋势及其相关因素，为制定出生缺陷干预措施或政策提供科学的依据。方法 对1996年至2004年广东省出生缺陷监测数据进行回顾性描述分析和趋势分析。结果 1996年至2003年广东省总的平均出生缺陷发生率为134．4／万（7301／543062），2004年为212．2／万（2111／99483），出生缺陷发生率呈逐年上升的趋势；不同母亲年龄（P〈0．01）和围产儿性别（P〈0．01）间的出生缺陷发生率差别有统计学意义；36．5％的出生缺陷患儿母亲孕早期接触过不良因素；广东省常见的出生缺陷分别是先天性心脏病、胎儿水肿综合征、总唇腭裂、多指（趾）、先天性脑积水、先天性马蹄内翻足等；诊断依据以临床诊断和B超诊断为主。结论 广东省出生缺陷的干预措施仍需加强；干预措施要针对高发出生缺陷和高危因素制定。     

142例胎儿唇腭裂的超声诊断与遗传因素分析

目的探讨胎儿唇腭裂的影像学特征与遗传基础。方法142例病例均接受产前超声系统检查,经过两级医生检查及会诊做出最终诊断。同时收集活产胎儿的胎儿脐带或引产胎儿的大腿肌肉组织,进行全基因组测序(whole genome sequening,WGS),以发现染色体数目异常和拷贝数异常(copy number variations,CNVs)。结果142例孕妇年龄分布为21~41岁,孕周为12~35周。142例胎儿中,男性94例,女性48例,男女比例为1∶0.51。根据唇腭裂的类型,单纯唇裂有84/142例(59.15%),唇裂合并其他系统畸形情况有31/142例(21.83%)。单纯唇腭裂有14/142例(9.86%),唇腭裂合并其他系统畸形情况有13/142例(9.15%)。9.2%(13/142)的胎儿有染色体数目异常,8.4%(12/142)的胎儿检出了致病性CNV。结论对CNVs的检测可以增加胎儿腭裂的遗传检测诊断率,在临床中应重视检测致病性CNVs。     

Prenatal evaluation of facial clefts by three-dimensional extended imaging

OBJECTIVES: To determine the prenatal diagnostic accuracy of two-dimensional ultrasound (2DUS) alone versus 2DUS in conjunction with three-dimensional ultrasonography (3DUS) including orthogonal display (OGD) and three-dimensional extended Imaging for cleft lip and primary palate. MATERIALS AND METHOD: Fetuses being suspected of having a facial cleft by previous ultrasound examination or family history were examined sequentially with 2DUS and then 3DUS. RESULTS: Of a total of 30 infants, 22 had cleft lip and nine also had cleft palate at birth. The use of 2DUS with or without 3DUS correctly identified all cases of cleft lips prenatally. However, the use of 2DUS in conjunction with 3DUS correctly identified more cleft primary palate than 2DUS alone (88.9% vs 22.2%, P < 0.01). Cleft primary palate was well demonstrated in both the multi-slice view (MSV) and OGD modes. In one case, a cleft palate was shown in the MSV mode but not in the Oblique view (OBV) mode. All the unaffected fetuses were reported as no cleft palate with the use of MSV mode. CONCLUSIONS: Combined approach of 2DUS and 3DUS with both OGD and MSV modes significantly improved the prenatal detection rate for a cleft palate compared with 2DUS alone (88.9% vs 22.2%) without decreasing the specificity.     

Neural tube defects in the sample of genetic counselling

OBJECTIVE: This study was conducted to evaluate the major demographic details, diagnostical and clinical features, as well as the risk of recurrence of cases with the major types of neural tube defects (NTD). We also examined the efficiency of ultrasonography based on autopsy examinations during 26 years. METHODS: The investigations were made into the sample of 743 NTD diagnosed between 1 January 1976 and 31 December 2002. A computerized database was used to sum up the available information about the individual cases; in addition to surveying the couples' major demographic details, we also had the opportunity to collect detailed information about the history, diagnostics (ultrasound) and outcome of the pregnancies as well as the results of the autopsies during the investigation. RESULTS: In the 743 cases of NTD, maternal and paternal median ages turned out to be 23.7 years (+/-5.22 years) and 28.7 years (+/-5.81 years), respectively. The male:female ratio was 0.78. Comparable samples of anencephaly and spina bifida allowed for the conclusion that a positive genetic history was equally often found while a positive obstetrical history was almost twice as common in anencephaly. The sensitivity of the maternal serum-alpha fetoprotein (AFP) screening test is the highest in anencephaly and lowest in encephalocele. While the majority of cases of anencephaly were diagnosed before the 24th gestational week, examples of diagnosing spina bifida and encephalocele at a later time could also be found. Among the associated malformations other than those of the central nervous system special mentioning should be made of fetal pyelectasia, cleft palate as well as diaphragmatic herniation. No pathological karyotypes were found in association with encephalocele or spina bifida, but anencephaly was accompanied with trisomy 21 and trisomy 18 in one case each. Anencephaly was found to have the highest risk of recurrence in both nervous system malformations and malformations other than those of the nervous system. Sonography proved to be the most reliable method in cases of enecephalocele. CONCLUSION: The respective median values of maternal and paternal age show that aetas has no role in the occurrence of NTDs. NTDs are more common among girls. Positive genetic, obstetrical and medical findings are of great importance in the incidence of NTDs. Although reliable to only a limited extent, maternal serum-AFP tests are considered to be useful and necessary in screening NTDs, while sonography is the gold standard method in recognizing these frequent malformations. The knowledge of the eventual associated malformations is mainly important in certain cases of spina bifida, which may also yield a good post-natal prognosis. Our data obtained from the sample of 26 years also confirm that the periconceptional administration of folic acid reduces the incidence and risk of recurrence of NTDs.     

Natural history of 70 fetuses with a prenatally diagnosed orofacial cleft

OBJECTIVE: This study is an analysis of neonatal outcome in 70 fetuses diagnosed over a 10-year period as having cleft lip with or without cleft palate (CL-P) by ultrasonographic examination. METHODS: We describe the natural history of these 70 fetuses with orofacial clefts and select those who may be candidates for fetal surgery. The sonograms of 70 fetuses with orofacial clefts were evaluated for the nature of the CL-P and for the nature of the associated anomalies. Additionally, karyotyping was performed in 63 of 70 patients (90%). RESULTS: The frequency of additional anomalies and the mortality rate varied with the type of cleft. Also, the frequency and type of chromosomal abnormalities varied with the type of cleft. The overall mortality rate was 63% (n = 44). 3 of the surviving 26 fetuses had severe associated anomalies. In 13 of the remaining 23 cases, the fetal age at diagnosis (> or =22 weeks) excluded the fetuses from the potential benefits of fetal intervention. CONCLUSION: Of 70 fetuses with prenatally diagnosed orofacial clefts, only 10 (14%) were candidates for fetal CL-P surgery.