161例胎儿心脏结构畸形的染色体核型分析

目的通过对不同类型的胎儿心脏结构畸形与染色体异常的关系性分析,指导遗传咨询和临床处理。方法收集2010年5月至2015年5月,因胎儿心脏畸形为产前诊断指征来我院行介入性产前诊断穿刺术及染色体核型分析并培养成功的病例共161例。并将病例分成单一心脏畸形、复合型心脏畸形和心脏畸形合并心外畸形3小组,分别统计染色体异常的检出率、检出类型。结果 161例胎儿心脏畸形病例的染色体异常发生率为23.6%。单一心脏畸形的染色体异常检出率为6.9%,复合型心脏畸形的染色体异常检出率为27.6%。心脏畸形合并心外畸形的染色体异常检出率为40%。结论由此可见,先天性心脏病与染色体异常关系密切。特别是心脏畸形合并心外畸形时,该染色体异常发生率更高。     

胎儿先天性心脏畸形产前遗传学研究

目的 评估胎儿先天性心脏病(congenital heart diseases,CHD)遗传学异常情况,为孕期管理和遗传咨询提供依据.方法 对产前超声检查发现为先天性心脏畸形的胎儿共81例,采用绒毛活检/羊膜腔穿刺/脐静脉穿刺获取胎儿细胞,进行细胞培养染色体分析;对显带分析无染色体异常胎儿,采用短串联重复标记结合多重荧光定量PCR技术,检测其22q11.2区域微缺失和微重复情况,异常胎儿再用荧光原位杂交技术证实.结果 81例先天性心脏畸形胎儿,发现染色体异常34例,22q11.2微重复1例,总异常发现率为43.2%;合并心外畸形胎儿染色体异常率高于单纯心脏畸形胎儿(64.5%vs.28.0%).染色体异常中,18三体有19例,占染色体异常病例的54.3%.结论 先天性心脏畸形的胎儿染色体异常率高,尤以18三体最为常见;如合并心外畸形,染色体异常概率明显增加;对显带分析染色体正常胎儿则需进行22q11.2区域微缺失和微重复检测.先天性心脏畸形胎儿的遗传学检测有助于孕期管理和遗传咨询.     

探讨胎儿心脏畸形类型与染色体异常的关系

目的探讨胎儿心脏畸形类型与染色体异常的关系,为遗传咨询提供依据,更好的评估胎儿预后,指导临床处理。方法收集2014年1月至2016年12月因胎儿心脏结构畸形在我院行介入性产前诊断病例共146例,将病例分成心脏单发畸形、心脏复合畸形和心脏畸形合并心外畸形3组,所有病例均进行绒毛、羊水或脐血细胞培养染色体核型分析,20例染色体核型正常的CHD同时行CMA检测CNV。结果 CHD染色体核型异常发生率为17.81%(26/146),其中心脏单发畸形组染色体核型异常占6.25%(5/80),心脏复合畸形组和心脏畸形合并心外畸形组分别占30.77%(8/26)和32.50%(13/40),与心脏单发畸形组比较,差异均有统计学意义(P0.001);CMA检测CNV检出率为10%(2/20),将染色体异常检出率提高近2%。结论胎儿心脏畸形与染色体异常关系密切,特别是心脏复合畸形或心脏合并心外畸形,染色体异常检出率高,而CNV检测可以提高染色体异常检出率;因此,当产前超声诊断胎儿心脏畸形时,特别是心脏复合畸形或心脏合并心外畸形时,应建议行胎儿染色体核型分析及CNV检测,以更好的评估胎儿预后,为遗传咨询提供依据,减少染色体异常的CHD患儿出生。     

产前超声诊断胎儿先天性心脏病中染色体核型异常的分析

目的调查分析产前超声筛查后确诊先天性心脏病胎儿中染色体异常的分布,探讨先天性心脏病的病因,提高产前诊断率。方法对2011年1月至2013年6月在本院产前诊断中心产科门诊B超诊断的先天性心脏病胎儿进行羊水或脐带血的染色体核型检查,并综合分析先天性心脏病畸形分类和染色体异常的关系。结果确诊的70例先天性心脏病病例中,伴染色体异常者18例,占25.71%（18/70）,其中21-三体7例,18-三体7例,13-三体2例,X单体2例。先天性心脏病合并心外畸形的胎儿22例,其中有14例（63.64%）染色体检查发现异常,仅有先天性心脏病的胎儿核型分析发现4例染色体异常,占单纯先天性心脏病的8.33%（4/48）。CHD胎儿中,100%的13-三体、85.71%的18-三体、71.43%的21-三体和50%的X单体均不同程度的伴有心外器官的畸形。结论染色体异常是产前B超诊断的先天性心脏病,尤其是复杂型先天性心脏病或有合并其他心外畸形的主要病因。对于B超筛查出的复杂型先天性心脏病或有合并其他心外畸形的胎儿,应重视其染色体的检查。     

室间隔缺损胎儿的遗传学检测及预后分析

目的 分析71例VSD胎儿与染色体异常的关系及随访观察结果,为遗传咨询及胎儿预后提供依据。方法将2019年1月至2021年3月在新疆乌鲁木齐市妇幼保健院行超声提示VSD的71例孕妇,根据VSD是否合并心脏及心外畸形分为4个组,其中单纯VSD 37例、VSD合并心脏畸形17例,VSD合并心外畸形13例,VSD同时合并心脏及心外畸形4例,开展染色体核型及SNP-Array分析,比较四组胎儿染色体异常情况、引产率、室缺自然闭合及生长发育等。结果 71例VSD胎儿中13例染色体核型异常（18.31%）,16例芯片检测结果异常（22.53%）。VSD仅合并心外畸形组染色体核型异常率明显高于单纯室缺组（P<0.05）,VSD仅合并心外畸形组和VSD同时合并心脏及心外畸形组致病性CNV检出率明显高于单纯室缺组（P<0.05）。染色体核型正常胎儿中共检测出7例CNV(12.1%),其中致病性CNV为2例,意义不明CNV为5例。对71例患儿中有23例引产（32.4%）,单纯VSD引产率明显低于其他各三组（P<0.05）,单纯VSD组室间隔自然闭合率明显高于VSD仅合并心脏畸形组（P&l...     

永存左上腔静脉与胎儿畸形的关系探讨

目的探讨永存左上腔静脉与胎儿畸形的关系及永存左上腔静脉的产前诊断价值。方法在我院行产前系统超声检查的7721例孕妇,以永存左上腔静脉胎儿为研究对象,超声检查胎儿生长径线和脏器结构,并随访结果。结果产前超声共发现永存左上腔静脉胎儿47例。41例经产后证实,6例失访。产后证实心脏畸形27例(65.9%),其中18例(43.9%)合并内脏异位,为内脏异位综合征,7例(17.1%)单纯心脏畸形,2例(4.9%)合并染色体畸形;5例(12.2%)单纯心外畸形;9例(22.0%)单纯PLSVC。胎儿畸形总发生率78.0%(32/41)。结论永存左上腔静脉胎儿常合并内脏异位畸形以及其他心内、心外畸形,永存左上腔静脉与胎儿畸形有密切的关系,是产前超声筛查胎儿畸形的有效标志,产前诊断永存左上腔静脉有重要的价值。     

糖尿病孕妇胎儿心脏超声检查的临床意义探讨

目的探讨糖尿病孕妇引起胎儿心脏畸形发生率及胎儿心脏检查的意义。方法选自197例糖尿病孕妇（Ⅰ型糖尿病6例，Ⅱ型糖尿病19例，妊娠期糖尿病172例）。应用Yagel等描述的胎儿心脏检查方法进行胎儿心脏结构检查，并对产前诊断为先天性心脏畸形要求引产的胎儿进行尸体解剖核对产前诊断的正确性，并进行胎儿染色体分析；对未引产或产前诊断未发现明显异常胎儿进行临床随访，胎儿出生后进行新生儿或婴儿心脏超声检查，判定产前诊断的正确性。结果1．197例糖尿病孕妇中，5例（2．54％）被发现胎儿心脏畸形，其中1例来自于Ⅰ型糖尿病患者（1／6，16．7％），2例来自于Ⅱ型糖尿病患者（2／19，10．5％），2例来自于妊娠期糖尿病患者（2／172，1．16％）。2．5例胎儿心脏畸形具体类型及染色体核型如下：2例为法洛四联症（其中1例为21三体，1例染色体正常），1例为右室双出口（染色体正常），1例为室间隔缺损（21三体），1例为左心发育不良（染色体正常）。3．192例产前未发现胎儿心脏畸形胎儿，在分娩后的随访中，发现1例为室间隔缺损（直径为3mm，染色体正常）；1例为动脉导管未闭。4．在胎儿心脏异常中，染色体异常发生率为28．6％。结论1．糖尿病孕妇具有导致子代心脏的高风险，建议对糖尿病孕妇进行胎儿心脏检查，进一步排除胎儿心脏畸形。2．Ⅰ型糖尿病和Ⅱ型糖尿病引起后代出现胎儿先天性心脏畸形的几率明显高于妊娠期糖尿病孕妇，在围孕期和妊娠早期进行良好的血糖控制。3．对糖尿病同时合并胎儿心脏畸形患者，如果需要继续妊娠，建议行羊膜腔穿刺或脐静脉穿刺排除胎儿染色体病变。     

产前超声在胎儿鼻骨缺失与鼻骨短小中的诊断效果及与预后的相关性研究

目的研究产前超声在胎儿鼻骨缺失与鼻骨短小中的诊断效果及与预后的相关性。方法随机选取2016年8月至2018年8月我院中孕期孕妇的鼻骨发育异常胎儿138例,采用彩色多普勒超声诊断仪对其进行产前超声检查,然后统计分析鼻骨缺失和鼻骨短小胎儿合并畸形情况、单纯和合并畸形鼻骨发育异常胎儿的染色体异常发生情况、单纯鼻骨缺失和鼻骨短小胎儿的染色体异常发生情况。结果 138例鼻骨发育异常胎儿中,48例鼻骨缺失,14例合并畸形,合并畸形率为29.2%;90例鼻骨短小,26例合并畸形,合并畸形率为28.9%。鼻骨缺失和鼻骨短小胎儿合并畸形率之间的差异不显著(P>0.05)。接受染色体检查82例,其中64例为单纯鼻骨发育异常,8例染色体异常,染色体异常发生率为12.5%;18例为鼻骨发育异常合并畸形,14例染色体异常,染色体异常发生率为77.8%。鼻骨发育异常合并畸形胎儿的染色体异常发生率显著高于单纯鼻骨发育异常胎儿(P<0.05)。单纯鼻骨发育异常胎儿64例中,18例单纯鼻骨缺失,其中1例染色体异常,染色体异常发生率为5.6%;46例单纯鼻骨短小,其中6例染色体异常,染色体异常发生率为13.0%。单纯鼻骨缺失和鼻骨短小胎儿的染色体异常发生率之间的差异不显著(P>0.05)。结论产前超声在胎儿鼻骨缺失与鼻骨短小中的诊断效果好,能够将有效依据提供给临床治疗,从而有效改善患者预后,值得推广。     

三维超声诊断胎儿全前脑畸形的临床价值

目的探讨应用三维超声诊断胎儿全前脑畸形的临床价值。方法回顾分析总结了8例产前超声诊断中发现的全前脑畸形及伴发的畸形,以及与染色体核型异常的相关性。结果 8例全前脑畸形均有典型的特征,其中无叶全前脑5例,半叶全前脑3例,合并胎儿多发畸形3例(心脏畸形分别伴2例喙鼻,1例唇腭裂),染色体核型异常6例。结论应用产前三维超声检测胎儿可准确有效检出胎儿全前脑畸形。     

二维超声产前筛查胎儿先天性心脏病的临床意义

目的探讨二维超声在产前筛查胎儿先天性心脏病的作用。方法以胎儿四腔心切面为基础,左心长轴切面。左右室流出道及心底短轴切面为主要切面。对30910例18～24w胎儿心脏进行筛查,发现严重心脏畸形者予以引产,其它异常者追踪至分娩,进行新生儿超声心动图检查,明确先天性心脏病类型。结果发现胎儿各种先天性心脏畸形25例（伴胎儿多发畸形5例）。其中心内膜垫缺损8例,单腔心2例,左右心发育不良各1例,右室双出口2例,三尖瓣下移1例,永存动脉干1例,心脏肿瘤3例,右位心2例,室间隔缺损4例。结论二维超声是产前筛查胎儿先天性心脏病的有效方法。     

胎儿畸形198例临床分析和预防措施

目的了解胎儿畸形的发生率、发生系统及缺陷分布情况,探讨引起胎儿畸形的相关因素,为临床预防和治疗提供依据。方法我院2006年1月至2009年12月产前检查确诊胎儿畸形并引产的198例病例进行回顾性分析。结果 198例胎儿畸形引产的原因位于前6位的分别为：先天性心脏病（32例,占16.6%）、脑积水（21例,占10.60%）、唇腭裂（20例,占10.10%）、四肢畸形包括四肢短小、并指、并趾（19例,占9.60%）、神经管畸形（18例,占9.09%）、消化道畸形（15例,占7.58%）。结论胎儿畸形的发生与孕妇的年龄、文化程度素质、环境、孕期服药、孕期合并症、并发症及营养等有关。为了减少出生缺陷的发生,应以预防为主,加强孕前及产前咨询,避免孕早期不良因素影响,尽早发现异常,及时行治疗性引产,以免给家庭和社会带来负担。     

Atrioventricular canal defect without Down syndrome: a heterogeneous malformation.

The atrioventricular canal defect (AVCD) is one of the congenital heart defects most frequently associated with extracardiac anomalies. The association of AVCD with Down syndrome and heterotaxy has been studied extensively. However, little information is available about the prevalence of genetic syndromes and additional cardiac malformations in patients with AVCD and visceroatrial situs solitus without Down syndrome. This paper reviews the genetic and cardiologic characteristics of patients with non-Down AVCD and situs solitus in the literature and our series of 203 consecutive patients. In our experience, 132 (65%) of the patients have nonsyndromic AVCD, while 71 (35%) have non-Down syndromic AVCD. Chromosomal imbalances were detected in 7 cases (3%), Mendelian syndromes or associations in 44 (22%), and extracardiac anomalies without an identifiable syndrome in 20 (10%). Deletion 8p is prevalent among those with chromosomal imbalances. Noonan, Ellis-van Creveld, oro-faciodigital, Smith-Lemli-Opitz syndromes and VACTERL cases are frequent among patients with recognizable or identifiable nonchromosomal conditions. Based on this analysis of the type of AVCD and prevalence of associated cardiac anomalies in the different groups of patients, we found that: 1) the complete form is prevalent in patients with chromosomal imbalances; 2) the complete form is more frequently associated with additional cardiac defects, mainly left side obstructive lesions; and 3) additional cardiac anomalies are prevalent in syndromic patients. In conclusion, AVCD is a congenital heart defect with great variability in the anatomic patterns and heterogeneity of causes also in the subset without Down syndrome and without heterotaxy. The peculiar anatomic subtypes of this cardiac defect are associated with specific genetic conditions.     

Association of neural tube defects with omphalocele in chromosomally normal fetuses

Omphalocele is frequently associated with other congenital malformations or a chromosome abnormality. Previously published series of omphalocele have emphasized the association of congenital heart defects or chromosomal abnormalities. We present five cases of omphalocele with concurrent neural tube defect from among the 15 cases of omphalocele evaluated between 1981 and 1985. Fourteen of 15 were detected prenatally. A sixth case is presented in which both a neural tube defect and an omphalocele were suspected on a prenatal ultrasound, but only the latter was found on autopsy. We recommend that a systematic evaluation be performed on every fetus with an omphalocele to include amniotic fluid alpha fetoprotein, acetylcholinesterase levels, chromosome study, and careful ultrasonography looking for evidence of other abnormalities, especially neural tube defects, before counseling the parents.     

Atrioventricular canal defect without Down syndrome: A heterogeneous malformation

The atrioventricular canal defect (AVCD) is one of the congenital heart defects most frequently associated with extracardiac anomalies. The association of AVCD with Down syndrome and heterotaxy has been studied extensively. However, little information is available about the prevalence of genetic syndromes and additional cardiac malformations in patients with AVCD and visceroatrial situs solitus without Down syndrome. This paper reviews the genetic and cardiologic characteristics of patients with non-Down AVCD and situs solitus in the literature and our series of 203 consecutive patients. In our experience, 132 (65%) of the patients have nonsyndromic AVCD, while 71 (35%) have non-Down syndromic AVCD. Chromosomal imbalances were detected in 7 cases (3%), Mendelian syndromes or associations in 44 (22%), and extracardiac anomalies without an identifiable syndrome in 20 (10%). Deletion 8p is prevalent among those with chromosomal imbalances. Noonan, Ellis–van Creveld, oro-facio-digital, Smith-Lemli-Opitz syndromes and VACTERL cases are frequent among patients with recognizable or identifiable nonchromosomal conditions. Based on this analysis of the type of AVCD and prevalence of associated cardiac anomalies in the different groups of patients, we found that: 1) the complete form is prevalent in patients with chromosomal imbalances; 2) the complete form is more frequently associated with additional cardiac defects, mainly left side obstructive lesions; and 3) additional cardiac anomalies are prevalent in syndromic patients. In conclusion, AVCD is a congenital heart defect with great variability in the anatomic patterns and heterogeneity of causes also in the subset without Down syndrome and without heterotaxy. The peculiar anatomic subtypes of this cardiac defect are associated with specific genetic conditions. Am. J. Med. Genet. 85:140–146, 1999. © 1999 Wiley-Liss, Inc.     

Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome

22q deletion syndrome (22q11.2DS) is most often correlated prenatally with congenital heart disease and or cleft palate. The extracardiac fetal phenotype associated with 22q11.2DS is not well described. We sought to review both the fetal cardiac and extracardiac findings associated with a cohort of cases ascertained prenatally, confirmed or suspected to have 22q11.2DS, born and cared for in one center. A retrospective chart review was performed on a total of 42 cases with confirmed 22q11.2DS to obtain prenatal findings, perinatal outcomes and diagnostic confirmation. The diagnosis was confirmed prenatally in 67% (28/42) and postnatally in 33% (14/42). The majority (81%) were associated with the standard LCR22A‐LCR22D deletion. 95% (40/42) of fetuses were prenatally diagnosed with congenital heart disease. Extracardiac findings were noted in 90% (38/42) of cases. Additional findings involved the central nervous system (38%), gastrointestinal (14%), genitourinary (16.6%), pulmonary (7%), skeletal (19%), facial dysmorphism (21%), small/hypoplastic thymus (26%), and polyhydramnios (30%). One patient was diagnosed prenatally with a bilateral cleft lip and cleft palate. No fetus was diagnosed with intrauterine growth restriction. The average gestational age at delivery was 38 weeks and average birth weight was 3,105 grams. Sixty‐two percentage were delivered vaginally and there were no fetal demises. A diagnosis of 22q11.2 deletion syndrome should be considered in all cases of prenatally diagnosed congenital heart disease, particularly when it is not isolated. Microarray is warranted in all cases of structural abnormalities diagnosed prenatally. Prenatal diagnosis of 22q11.2 syndrome can be used to counsel expectant parents regarding pregnancy outcome and guide neonatal management.     

Congenital heart defects. Frequency at autopsy

Autopsies were performed on 3,071 stillborns and decreased children up to the age of 16 years at the Institute of Pathology of the Charité from 1969 to 1983. Congenital heart disease (CHD) was found in 814, i.e. 26.5% of the autopsies. Results of re-examination of 642 hearts with CHD are discussed. The most common malformations are ventricular septal defects, d-transpositions of the great vessels, tetralogy of Fallot and aortic coarctations. CHD was more frequently found in boys than in girls (1.5 : 1). The majority of the deaths occurred during the first year of life (78.8%). 20.1% of these took place during the perinatal period and 47.2% within the first 6 months of life. Additional cardiac anomalies were associated with the main defect in 81.8% of cases. The most common such associated defects were atrial and ventricular septal defects, aortic coarctations and other aortic arch anomalies. The frequency of extracardiac malformations in CHD was 7.2%. The most common anomalies were of the central nervous system, the gastrointestinal tract and the urinary system. Malformation syndromes were identified in 5.6% of the CHD cases, including Down's syndrome in 1.4%.     

马鞍山地区3591例新生儿出生缺陷临床分析

目的探讨新生儿出生缺陷的发生情况、种类及相关因素，为出生缺陷的预防工作提供一定的依据。方法回顾分析马鞍山市妇幼保健院2007～2013年新生儿出生缺陷发生情况、变化趋势、顺位特点及转归。结果2007～2013年我院产科共出生22889例新生儿，其中有出生缺陷359例，出生缺陷发生率为15．68‰，近年有增高趋势。出生缺陷顺位依次为肢体畸形22.6％、先天性心脏病16.7％、神经管畸形13.4％、消化系统畸形10％、唇腭裂9.2％。孕妇年龄大于35岁的出生缺陷发生率较高，农村出生缺陷发生率明显高于城市。出生缺陷患儿中活产150例（41.8％），治疗性引产及死胎共209例（58.2％），其中最多的是先天性心脏病47例（22.5％），其次神经系统畸形45例（21.5％）。结论出生缺陷的发生有增高趋势，积极采用三级预防措施，降低新生儿期出生缺陷发生率，尤其是预防先天性心脏病，神经管畸形的发生，进一步提高出生人口素质。