产前超声诊断单脐动脉的临床价值

目的探讨单脐动脉的产前超声诊断及其临床价值。方法对产前超声检查中发现的40例单脐动脉胎儿进一步进行全面筛查,并行脐血染色体检查,对妊娠结局进行随访。结果 40例单脐动脉中,单纯性单脐动脉28例(70%),合并其他畸形12例(30%),其中心血管系统畸形3例,中枢神经系统畸形2例,泌尿系统畸形2例,多发性畸形2例,消化系统畸形、桡骨发育不良及膈疝各1例;接受脐血染色体检查7例,染色体核型异常3例;单纯性单脐动脉预后良好。结论产前超声可以明确诊断单脐动脉。单脐动脉合并其他畸形的发生率高于正常,合并畸形时染色体异常发生率增高。当超声检查发现单脐动脉时,应进一步作系统筛查及染色体检查,并对单脐动脉胎儿生长发育指标进行监测评估,均具有重要的临床意义。     

超声诊断胎儿单脐动脉的临床价值

目的探讨超声诊断胎儿单脐动脉的临床价值。方法回顾分析我院近6年来111例胎儿单脐动脉及合并其它畸形的声像特征,并与产后及尸检、病理解剖进行对照比较。结果超声诊断111例胎儿单脐动脉,其中20例伴发胎儿先天畸形,分别为单心腔11例,后颅窝积液1例,三尖瓣下移1例,膈疝伴法洛氏四联症1例,唇裂3例,其它多发畸形3例。结论超声能够准确诊断胎儿单脐动脉,并引起足够重视,进一步仔细检查排除其它合并畸形,特别是心脏畸形,为临床及孕妇妊娠与否提供确切依据,有利于优生优育。     

妊娠合并单脐动脉525例临床分析

目的对妊娠合并单脐动脉的患者围产期结局进行探讨,为今后临床对单脐动脉孕产期咨询和临床处理以及胎儿宫内监测提供可靠依据。方法回顾分析2010年10月～2013年10月,在我院诊断的525例妊娠合并单脐动脉的诊断方法、分娩方式和妊娠结局。结果 525例病例中,合并胎儿畸形89例,合并胎儿生长受限53例,宫内死胎6例,合并胎心监护异常31例,新生儿窒息10例,早产72例,足月分娩366例。结论单脐动脉合并胎儿结构畸形及生长受限的风险明显高于正常脐动脉的胎儿,发现单脐动脉的胎儿,应进行各个部位系统的产前检查,以降低胎儿出生缺陷的发生。单纯性单脐动脉胎儿妊娠结局良好,对于同时合并有其他超声异常,建议行胎儿染色体核型分析。     

超声诊断胎儿单脐动脉的临床意义

目的通过对单脐动脉胎儿的检查与随访,探讨单脐动脉的临床意义。方法进行产前超声检查的胎儿24018例,超声检查胎儿各系统结构及胎盘羊水情况,观察脐带的腹腔段、游离段及胎盘附着部。结果 24018例胎儿中检出单脐动脉胎儿47例,检出率为0.2%,其中单纯的单脐动脉23例,合并其它系统结构畸形者24例。5例单脐动脉胎儿进行了染色体核型分析,其中2例有染色体异常,3例未见异常。结论单脐动脉与胎儿先天性畸形有密切关系,单脐动脉可做为胎儿先天异常的一个软标记,超声医生应重视其重要性。     

产前彩色多普勒超声诊断胎儿单脐动脉及持续性右脐静脉合并胎儿相关畸形的对比研究

目的比较彩色多普勒超声产前诊断胎儿两种血管畸形单脐动脉和持续性右脐静脉合并相关胎儿畸形的发病率、种类及漏诊原因分析。方法采用GEE8彩色多普勒超声诊断仪,腹部探头频率:3.5~5.0MHz,对2009年9月1日至2013年8月30日在我院接受常规产检的57 642例的胎儿进行系统的产前超声检查,发现SUA及PRUV进一步仔细检查并记录有无相关畸形,对所有SUA及PRUV胎儿进行产后追踪。结果 57 462例胎儿经产前超声系统筛查共检出持续性右脐静脉(PRUV)146例,其中4例合并3个系统7种胎儿畸形,单脐动脉280例,其中ISUA(单纯性单脐动脉)235例,另有35例合并35种各系统畸形。PRUV产前无畸形漏诊,而SUA中产前共漏诊畸形15种25例。结论 PRUV和SUA合并畸形的差异有统计学意义。(P0.001),SUA合并各系统畸形比PRUV明显偏高。PRUV中产前未发现漏诊畸形,而SUA漏诊的畸形种类多,原因复杂。     

单脐动脉合并其他异常情况的超声诊断意义

目的探讨超声在诊断胎儿单脐动脉以及伴发胎儿其他异常情况的意义。方法回顾性分析2010年1月至2011年1月在我院超声检查发现出的59例胎儿单脐动脉的超声资料,同时分析合并胎儿其他异常情况关系,并追踪其妊娠结局。结果 59例超声均诊断为胎儿单脐动脉,其中单纯性脐动脉28例(46.7%),合并胎儿其他异常情况31例(53.3%),且类型多样,达10种之多。而在这些异常情况中,羊水异常最多,共9例(15%),其次为心血管系统畸形为7例(11.6%)。结论通过彩色多普勒超声能仔细准确的诊断出单脐动脉及是否合并胎儿其他异常情况的存在,具有重大的临床意义。     

单脐动脉的产科临床意义分析(附37例临床分析)

目的通过对单脐动脉(SUA)的产科临床病例进行分析,进一步提高临床对单脐动脉的诊断和处理水平。方法回顾分析在我院分娩并诊断的37例单脐动脉病例,在同期无妊娠合并症及并发症的足月单胎非单脐动脉病例中随机选取37例做对照,分析SUA的妊娠结局、产前超声检查、S/D比值变化及胎心电子监护情况。结果在15793次分娩中发现单脐动脉37例,发生率为0.23%。其中单纯性单脐动脉24例,发生率为64.86%;合并其他超声异常的单脐动脉13例,发生率35.14%。产前超声检查32例,诊断符合率90.62%;出生缺陷8例,发生率21.62%。FGR8例,发生率21.62%;产前诊断28例,染色体异常发生率为3.57%;早产4例,发生率12.5%;死胎3例,围产儿死亡率8.10%;单脐动脉的出生缺陷、FGR、胎儿窘迫、S/D比值异常升高发生率及胎心电子监护异常发生率明显高于非单脐动脉,差异有统计学意义(P0.05),新生儿窒息及围产儿死亡发生率无明显统计学差异(P0.05)。结论单脐动脉有较高的新生儿出生缺陷、FGR、胎儿窘迫、早产及围产儿死亡发生率。大部分单脐动脉胎儿结局良好,产前超声检查发现单脐动脉应仔细检查胎儿的各个系统有无形态、结构异常,对继续妊娠的病例应动态监测胎儿宫内发育情况,加强产前、产时的监测。     

单脐动脉在产前超声诊断的意义

目的通过分析单脐动脉的临床特点及胎儿出生后情况,探讨单脐动脉在产前诊断超声的意义。方法自2006年3月至2009年9月,应用产前诊断超声检查孕妇胎儿脐带19264例,观察单脐动脉的形态结构、彩色多普勒特征、类型及伴发畸形的类型,分析胎儿染色体异常及出生后情况。结果超声检查诊断单脐动脉99例,61例合并其他系统异常,余38例为单纯单脐动脉。共行染色体检查27例,其中合并其他异常的单脐动脉中4例染色体异常中,2例21-三体,2例18-三体,单纯单脐动脉中1例为18-三体。引产65例,活产30例,死胎1例,3例妊娠尚未终止。结论超声可以有效检出单脐动脉,同时要排除其他系统异常及染色体异常。建议临床行染色体检查,重视宫内胎儿监护,必要时及时终止妊娠。     

产前超声诊断先天性心脏病合并心外畸形的应用及对优生优育的指导价值

目的探讨产前超声诊断应用于先天心脏病合并心外畸形的临床价值及对优生优育的指导价值。方法选取2017年5月~2018年5月于我院接受产前超声诊断结果异常的132例孕妇作为主要研究对象,所有孕妇均接受产前超声诊断,并产后随访6个月,分析其CHD及合并心外畸形的类型,以及产前超声诊断的临床价值。结果132例参与研究的孕妇中,随访成功108例,随访率为81.82%。随访成功的108例孕妇中,共检出24例CHD胎儿,产前超声诊断检出21例,诊断准确率为87.50%,漏诊率为12.50%。19例仅引产后尸体解剖检查证实为CHD,5例经出生后超声复查证实为CHD。24例CHD胎儿中,单纯先天性心脏病13例,其中4例完全性大动脉移位、3例左心发育不良、1例法洛四联症、5例完全性心内膜垫缺损,合并心外畸形11例,其中1例三尖瓣下移畸形合并肾积水,肺囊腺癌、7例室间隔缺损合并肾积水,内腔反位,脐膨出、1例法洛四联症合并羊水少,脊柱侧弯、1例永存左上腔静脉合并肾积水、1例右室双出口合并马蹄内翻足。对11例CHD合并心外畸形的胎儿进行随访,其中10例选择引产,1例室间隔缺损合并肾积水,内腔反位,脐膨出的孕妇选择继续妊娠,产后随访妊娠结果与产前超声诊断结果基本相同。结论产前超声诊断应用于先天性心脏病合并心外畸形胎儿的临床价值较高,且对优生优育具有一定的指导作用。     

胎儿持续性右脐静脉的超声诊断及临床意义

目的探讨持续性右脐静脉胎儿的产前超声表现以及临床结果之间的关系。方法于产前超声检查发现胎儿持续性右脐静脉，对胎儿及出生后的婴儿进行随访观察，并对结果进行总结分析。结果发现并随访持续性右脐静脉胎儿18例，其中合并完全性房室隔缺损1例（21-三体儿），合并尿道后瓣膜并单脐动脉1例，另一例合并单脐动脉，余未发现合并其他胎儿畸形，产后超声检查新生儿发现门静脉变异17例，随访3—6月生长发育正常。结论本组资料显示，单纯持续性右脐静脉的胎儿，无合并其他部位的畸形，被视为良性的解剖学变异，预后良好；如合并其他畸形，则需进行相关的遗传学检查及相应的诊疗措施。     

Does single umbilical artery (SUA) predict any type of congenital defect? Clinical-epidemiological analysis of a large consecutive series of malformed infants

Most studies associating different types of malformations with the presence of a single umbilical artery (SUA) are based on small and selected series. Here, we present the results of a study aimed at identifying the most frequent, and the most specific anomalies related to SUA. We analyzed 19,909 consecutive newborn infants with congenital malformations, from the Spanish Collaborative Study of Congenital Malformations (ECEMC). To estimate the specificity of the relationship of different congenital defects with SUA, we calculated their relative frequencies (RF) by dividing their frequency in infants with SUA by the corresponding frequency in newborn infants without SUA. Using the different levels of the ECEMC coding system, we calculated the RFs in three steps: (a) a group of individual congenital defects, (b) different groups of malformed infants, and (c) each individual malformation by its clinical presentation in some of the studied groups of malformed infants. The defects most specifically associated with SUA were bilateral renal agenesis and imperforate anus, followed by unilateral renal agenesis, and vertebral defects, the RF of which indicated that they were between 7.99 and 9.93 times more frequent among malformed infants with SUA than among malformed infants without SUA. However, these defects were not as frequent in the group of infants with SUA, as cardiovascular anomalies. Regarding the association of SUA in the groups of malformed infants, the most specific groups were body stalk defects and sirenomelia. Finally, we analyzed the association of the individual defects by different groups of malformed infants in order to identify if the individual defects are associated with SUA in any type of clinical presentation, and in relation to some groups of infants with genetic disorders. The results, together with the embryonic development of the umbilical cord, strongly suggest that not all cases of SUA have the same cause, and that all previously suggested mechanisms may be possible but with different frequencies.     

Prenatal detection of rare chromosomal autosomal abnormalities in Europe

The aim of the present study was to evaluate the prenatal detection of rare chromosomal autosomal abnormalities by ultrasound (US) examination. Data were obtained from 19 congenital malformation registries from 11 European countries, between 01/07/96 and 31/12/98. A total of 664,340 births were covered and 7,758 cases with congenital malformations were recorded. Rare autosomal abnormalities were diagnosed in 114 cases (6.6%) from a total of 1,738 chromosome abnormalities. There were a wide variety of autosomal abnormalities: the most common were deletions (33 cases), duplications (32 cases), trisomies of chromosomes 8, 9, 10, 14, 15, and 16 (23 cases), and unbalanced rearrangements (19 cases). Out of these cases, 45.6% were detected prenatally by US examination due to the presence of congenital anomaly. As for the types of chromosomal anomaly, unbalanced rearrangements and deletions were the most frequently detected by US. A high percentage of cases with balanced rearrangements were associated with severe congenital anomalies. The most frequent congenital anomalies detected by US were cystic hygroma (20.6%), central nervous system defects (17.6%), cardiac defects (13.2%), and diaphragm defects (10.3%). This large series offers useful information about prenatal diagnosis by US of congenital defects associated with rare autosomal abnormalities and it provides a valuable knowledge about outcome. Fetal anomalies detected by US that were associated with rare autosomal abnormalities were significantly more frequent than those associated with common chromosomal abnormalities (45.6 vs. 34.7%). This study indicates the need to increase the detection of congenital anomalies by US.     

超声在出生缺陷产前诊断中的临床应用

目的 探讨超声在产前诊断胎儿缺陷的临床价值。方法 对4927例孕16～40周的妇女采用实时彩色多普勒超声仪进行系统检查，对胎儿畸形进行筛查和诊断。结果 在4927例孕妇中，共发现先天性缺陷58例，产前共诊断出48例胎儿畸形，漏诊10例。漏诊病例主要表现为较小畸形和缺陷。结论 妊娠中晚期进行系统超声检查可以对胎儿形态结构方面的明显畸形进行产前诊断，对于降低出生缺陷发生率，提高人口素质具有重要意义。     

Congenital clubfoot in Europe: A population‐based study

We aimed to assess prevalence, birth outcome, associated anomalies and prenatal diagnosis of congenital clubfoot in Europe using data from the EUROCAT network, and to validate the recording of congenital clubfoot as a major congenital anomaly by EUROCAT registries. Cases of congenital clubfoot were included from 18 EUROCAT registries covering more than 4.8 million births in 1995–2011. Cases without chromosomal anomalies born during 2005–2009, were randomly selected for validation using a questionnaire on diagnostic details and treatment. There was 5,458 congenital clubfoot cases of which 5,056 (93%) were liveborn infants. Total prevalence of congenital clubfoot was 1.13 per 1,000 births (95% CI 1.10–1.16). Prevalence of congenital clubfoot without chromosomal anomaly was 1.08 per 1,000 births (95% CI 1.05–1.11) and prevalence of isolated congenital clubfoot was 0.92 per 1,000 births (95% CI 0.90–0.95), both with decreasing trends over time and large variations in prevalence by registry. The majority of cases were isolated congenital clubfoot (82%) and 11% had associated major congenital anomalies. Prenatal detection rate of isolated congenital clubfoot was 22% and increased over time. Among 301 validated congenital clubfoot cases, diagnosis was confirmed for 286 (95%). In conclusion, this large population‐based study found a decreasing trend of congenital clubfoot in Europe after 1999–2002, an increasing prenatal detection rate, and a high standard of coding of congenital clubfoot in EUROCAT.     

The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016

The term prenatal diagnosis comprises a variety of techniques aimed to determine the health and condition of the embryo or foetus. Its main goal is to identify at an early stage of the pregnancy, if possible, malformations or other conditions that could increase the risk of a negative outcome in the pregnancy. The aim of this study was to assess the impact of prenatal diagnosis in Portugal in pregnancies with congenital anomalies. A cross sectional study was implemented using data for the years 1997 to 2016 from the Portuguese registry of congenital anomalies (RENAC), a population-based registry that follows EUROCAT guidelines. Analysis was restricted to malformations that are potentially detectable by prenatal diagnosis. The effect of prenatal diagnosis on outcome (death vs live birth) was estimated using a regression model. Main results indicate that prenatal diagnosis was performed in 56.1% (n?=?7605) of all registered cases. At least one malformation was detected for the first time through ultrasound (47.4%), invasive tests (5.6%) and other tests (2.2%). When analysed severe CA, 54.2% was detectible by prenatal ultrasound distributed as follows: 17.4% were diagnosed before 14 weeks of gestation, 47.6% between 14 and 23 weeks and 35.0% with 24 or more weeks of gestation. TOPFA was the option for 21.3% of these CA.Over the 20 years of analysis, there was a statistically significant increase trend in the detection rate of congenital anomalies through prenatal diagnosis compared to detection at birth or after birth (p?<?0.001).After adjusting for confounding (year, maternal age, presence of more than one malformation), prenatal diagnosis was associated with more severe outcomes (TOPFA, 40.3%; Death 3.5%) and increased the risk of the pregnancy ending in foetal death (OR?=?2.56; 95%CI?=?2.06–3.18). These results are in accordance that more severe anomalies are more easily detected prenatally.Considering the results, it is important to raise awareness about the importance of pregnancy planning and preventing the risk factors more associated with CA. More information about prognosis for children with congenital malformations is important for parents and health professionals after prenatal detection.     

Brief report: parental burden and grief one year after the birth of a child with a congenital anomaly

OBJECTIVE: To assess parental burden and grief one year after having a child with a congenital anomaly. METHOD: Twenty-five couples completed the Impact on Family Scale (IFS) and 22 couples answered the Perinatal Grief Scale (PGS). In addition, 27 mothers completed the Functional Health Status Scale (FSII-R). RESULTS: Mothers and fathers showed no significant differences in overall burden (IFS) and grief (PGS). Regarding the subscales, mothers reported significantly more personal strain. Foreknowledge from prenatal diagnosis about the anomaly, a low perceived functional health status of the child, and multiple congenital anomalies increased the burden and grief. CONCLUSIONS: A perinatal counseling team that provides clear and consistent information about the anomalies, the treatment, and the prognosis would help to reduce unnecessary stress and uncertainty, particularly for parents who received prenatal information and whose infant has multiple congenital anomalies.     

Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1

We report an infant with multiple congenital anomalies, including craniosynostosis, tetralogy of Fallot variant, and limb anomalies associated with a maternal deletion of 15q15-22.1. Only two other patients have been reported with a similar deletion, but the deletion was paternal in both cases. We review our patient's findings and compare them to previously reported individuals with similar 15q abnormalities. Our patient allows an expansion of phenotype associated with mid-15q deletions to include severe craniosynostosis, congenital heart disease, and limb anomalies. This will assist in prenatal counseling and predicting postnatal outcome for other affected individuals. The specific breakpoints in our patient and the other patients with similar deletions may also assist in determining a critical region for suture formation.     

Epidemiological association between isolated skin marks in newborn infants and single umbilical artery (SUA). Does it have biological plausibility?

In a previous study on single umbilical artery (SUA) and its association with congenital defects, we observed a serendipitous association between isolated skin anomalies and the presence of SUA. Although this could be a spurious association, we considered that it deserved to be studied in detail. The aim of this study was to investigate, in an epidemiological setting, whether this association has any biological meaning or if it occurs just by chance. Using data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), we analyzed "angiomas" (including all type of capillary skin marks, since it is not possible to distinguish it during the first 3 days of life), and nevi because they are the only defects detected in newborn infants as isolated skin defects. In the ECEMC methodology, infants with nevi or angiomas as the only congenital defect are considered as cases when they present with only one of these skin marks measuring at least 1 cm in diameter and within the first 3 days of life, or when they have three or more such marks of any size. A total sample of 1,832 consecutive newborn infants with isolated congenital skin marks was identified: 871 with nevi, 958 with angiomas, and 3 with both. Newborn infants with SUA and isolated angiomas displayed higher birth measurements, and older maternal and paternal ages than newborn infants with angiomas and three umbilical vessels. Similar results were observed when infants with angiomas and SUA were compared with control infants either with or without SUA. These associations were not observed in newborn infants with nevi with or without SUA or for control infants with or without SUA. The distribution of the angiomas by body areas, and sex preferences were also analyzed. After evaluating the limitations and advantages of the present study, the results suggest that newborn infants with angiomas (irrespective of their type), SUA, and higher centile measurements may have one of the syndromes that exhibit this type of skin mark. Although this observation requires confirmation, we do suggest close attention to newborns with these three signs.     

Epidemiology of orofacial clefts in a Danish county over 35 years – Before and after implementation of a prenatal screening programme for congenital anomalies

In 2004 the Danish National Board of Health changed its screening recommendations. Since 2005 a first trimester screening for Down syndrome and a prenatal ultrasound screening for congenital anomalies in the second trimester of pregnancy has been offered to all pregnant women.The aim of this study was to describe the prevalence of cleft lip with or without cleft palate and cleft palate in a Danish area and to describe associated anomalies and the development in prenatal diagnosis over time. The study was based on data from the EUROCAT Registry for Funen County. The registry is based on multiple data sources and includes information about live births, fetal deaths with a gestational age >20 weeks and terminations of pregnancy after prenatal diagnosis of severe fetal anomaly. The study included all fetuses/infants out of a population of 182,907 births diagnosed with orofacial clefts born between 1980 and 2014. There were 271 cases diagnosed with cleft lip with or without cleft palate and 127 cases diagnosed with cleft palate, giving a prevalence of 14.8 per 10,000 births for cleft lip with or without cleft palate and 6.9 per 10,000 births for cleft palate. There were no significant changes in prevalence over time for the two anomalies, calculated with and without inclusion of genetic and chromosomal cases. Overall 66 cases were diagnosed prenatally (17% of total). For isolated cleft lip with or without cleft palate none of the 157 cases born before 2005 were diagnosed prenatally compared to 34 of 58 cases (59%) born in 2005–2014 (p?<?0.01). The proportion of liveborn infants with multiple congenital anomalies also changed after 2005 with 15% (39/266) of all liveborn infants with orofacial clefts born 1980–2004 having multiple anomalies compared to 7% (7/96) in 2005–2014 (p?<?0.05).The implementation of the new screening programme in 2005 has given a major change in prenatal detection rate and reduced the proportion of liveborn infants with orofacial clefts classified as multiple congenital anomaly cases. The prevalence of cleft lip with or without cleft palate was higher than reported from many other countries.     

Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia

We present a retrospective study of the frequency and type of associated malformations and chromosomal anomalies in 42 consecutive cases of congenital diaphragmatic hernia (CDH) diagnosed in utero during the period from 1985 to 1999. In 26% (11/42) of the cases, associated malformations were detected. Chromosomal anomalies were present in 9.5% (4/42). In this group of 15 cases (15/42 = 36%) with associated malformations or chromosomal anomalies, all cases, except one, had prenatal sonographic evidence of additional problems. The survival rate of fetuses with CDH and associated malformations or chromosomal anomalies was poor (1/15). Therefore, the overall survival rate of in utero‐diagnosed CDH was only 31% (13/42), while isolated left CDH had a survival rate of 52% (12/23). The in utero diagnosis of CDH implies a detailed echographic examination to exclude additional anomalies. The risk for a syndromal or chromosomal malformation becomes small when no additional anomalies are seen on ultrasound.