1999～2006年993例胎儿结构异常数据资料分析

目的研究产前超声诊断胎儿结构异常的价值并分析漏诊原因。方法回顾性分析了1999年1月～2006年10月在我院住院分娩和引产且最终诊断有畸形的993例新生儿和引产儿的资料,以产后最终诊断为金标准评估产前超声诊断的价值。结果本组胎儿畸形发生率为22.5‰。产前超声对993例患儿(共1344处畸形)的畸形总检出率为79.02%(1062/1344);其中严重畸形检出率为87.58%(860/982),明显高于轻微畸形检出率的55.80%(202/362)(P<0.005)。各系统中,骨骼肢体系统及颜面部畸形的漏诊较多,漏诊率分别为39.46%和31.91%,漏诊畸形主要为指/趾畸形、单纯腭裂及耳畸形等。结论产前超声诊断对胎儿严重畸形的检出率高,但对于一些微小畸形及单纯腭裂等检出率低。     

Ethnic differences in the distribution of congenital malformations.

Major lethal and non-lethal congenital malformations occurring in babies born in Dudley Road Hospital in 1979, 1980 and 1981 were related to the ethnic group of the mother. There was an increased incidence of gastrointestinal malformations in the Indian group and an increased incidence of abnormalities that could be associated with consanguinity and increased maternal age in the Pakistani group. A sample population (2000 mothers) was obtained in the first 7 months of 1982 to determine the maternal age distribution and consanguinity rates in the various ethnic groups.     

Lethal malformations and perinatal mortality: a 10 year review with comparison of ethnic differences

During 1976 to 1985 perinatal mortality in Leicestershire decreased from 21 to 9.5 per 1000 births. Throughout this period the incidence of lethal malformations, excluding neural tube defects, remained relatively constant at around 1.8 per 1000 births. Analysis of the malformations present in 201 lethally malformed babies showed that 147 (73%) had a disorder carrying a recurrence risk of 1% or greater. Only 7% of these malformations might have been predicted from the family history or advanced maternal age. The incidence of lethal malformations was significantly increased in the Asian population, largely because of an excess of autosomal recessive disorders. The contribution of lethal malformations to perinatal mortality has almost doubled over the past 10 years and is likely to increase despite prenatal diagnosis and improvements in obstetric and paediatric services.     

Spectrum of congenital surgical malformations in newborns

A prospective study to detect the frequency and distribution of congenital surgical malformations in a rural hospital setting in Maharashtra was carried out. A total of 3000 consecutive births over a 9-month period was included and the frequency of congenital malformations was 21.1 per 1000 births. Stillbirths were associated with a higher incidence of malformations (14.5%) as compared to live births (1.8%). The commonest systems affected were the gastro-intestinal tract and the genito-urinary tract (20.4% each) followed by the central nervous system (17.3%). Among the various possible risk factors studied, a higher incidence of congenital malformations was associated with increasing maternal age (> 35 years), higher gravida mothers (> G4), parental consanguineous marriages, previous history of abortions, maternal hypertension, etc.     

胎儿和围生儿先天性心脏病的临床病理分析(附243例报告)

目的 探讨胎儿及围生儿先天性心脏病的病理特点.方法 对243例先天性心脏病的胎儿及围生儿进行尸检分析.结果 胎儿及围生儿先心病检出率为19.6%,其中城区占24.4%,居各类畸形之首,常见的依次为婴儿型主动脉缩窄、心室发育不良、单干动脉及完全性大动易位等:乡镇占15.3%,居各类畸形的第2位.致死性畸形城区多于乡镇;复合畸形乡镇多于城区.结论 城区(北京市)先心病的检出率高于乡镇地区(吕梁地区),且检出率与孕周有关.     

122例尿道下裂男性患儿临床表现型与染色体核型关系分析

目的 分析尿道下裂男性患儿合并其他泌尿生殖系统畸形及染色体核型异常情况。方法 收集122例尿道下裂男性患儿的临床资料,根据阴茎矫直后尿道口的位置对尿道下裂进行分型和分度,观察不同类型和不同程度的尿道下裂患儿合并其他泌尿生殖系统畸形的情况。对73例患儿行染色体核型分析,观察染色体异常患儿尿道下裂分型及合并其他泌尿生殖系统畸形的情况。结果 122例尿道下裂患儿中,合并其他泌尿生殖系统畸形76例（62.3%）,包括阴茎阴囊转位、鞘膜积液、隐睾、腹股沟斜疝或合并多种畸形。轻度尿道下裂39例（32.0%）,中度38例（31.1%）,重度35例（28.7%）,极重度10例（8.2%）;中度、重度、极重度尿道下裂患儿合并其他畸形的发生率分别为73.7%、68.6%和70.0%,均明显高于轻度尿道下裂患儿合并其他畸形的发生率（43.6%）,差异有统计学意义（P＜0.05）。73例行染色体核型分析的患儿中,4例（5.5%）存在染色体异常。结论 尿道下裂男性患儿中,合并阴茎阴囊转位最常见,中度及以上程度患儿合并其他泌尿生殖系统畸形的比例较高。染色体核型异常并非是导致尿道下裂合并其他畸形的主要因素。     

Single Umbilical Artery: A Prospective Study of 2000 Consecutive Deliveries

A prospective study of 2000 obstetrical deliveries was undertaken to establish the incidence of single umbilical artery in the newborn and the frequency of congenital malformations reported to be associated with this disorder. Twenty cases of single umbilical artery were discovered; two proved to have an associated congenital malformation. In neither of these cases was medical management affected by the discovery of a single artery. In addition, the vascular arrangement in the cords of 31 concurrently occurring congenitally malformed babies was examined, and in no instance was a single umbilical artery found.     

Low birth weight in relation to sex of baby, maternal age and parity: a hospital based study on Tangsa tribe from Arunachal Pradesh.

Records of 151 Tangsa singleton live births over a period of 4 years at the Nampong Primary Health Centre of Nampong Circle of the Changlang district of Arunachal Pradesh were analysed to examine the effect of sex of baby, mother's age and parity on the incidence of low birth weight. The occurrence of low birth weight was 28.48% and only 4.64% of newborns weighed 2000 g or less. The mean birth weight was found to be 2806.95 +/- 39.32 g. Female babies had a significantly higher incidence of low birth weight than male babies. Parity was found to be significant influence on the incidence of low birth weight. An increase of low birth weight babies was noticed after 4th parity and the best outcome was also observed at this parity. The higher incidence of low birth weight was found in the 5+ parity. Young mothers (< 20 years) had also higher incidence of low birth weight and mother's age had no significant effect on the incidence of low birth weight.     

Malformations in infants of very low birth weight

The incidence of lethal, serious and trivial malformations was determined in a consecutive series of 675 infants who weightd 1500 g or less (very low birth weight infants). All patients were born in one maternity hospital. Most of the 169 survivors were followed until at least five years of age. Of these children, 15 had a trivial malformation that either disappeared spontaneously or was corrected surgically. A further five children have a significant or serious residual defect. There were 506 perinatal and infant deaths and 51 of the babies who died had malformations confirmed at necropsy. In 30 of these, death was inevitable. There were 10 seriously malformed infants for whom survival was possible, but in six cases, the diagnosis was obvious at birth. The patients were treated between 1966 and 1970 when techniques of intensive care were evolving. Consequently, some of the infants who died would have survived with the treatment now available. Amongst the perinatal deaths in this report, only 2.0% had a serious malformation compatible with survival.     

孕妇妊高征发生情况及新生儿出生体重调查

目的调查孕妇孕前体质指数、孕期体重增加情况与妊高征及新生儿出生体重的关系,为降低高危妊娠、巨大儿、低体重儿的发生率提供依据。方法测量623例初产妇孕前体质指数和孕期体重增加情况,并分析妊高征、巨大儿、低出生体重儿的发生情况。结果孕妇孕前体质指数过高则妊高征和巨大儿的发生率明显升高;孕前体质指数过低则低出生体重儿的发生率明显升高;孕妇怀孕期间体重增加过多,则妊高征和巨大儿的发生率明显升高;体重增加过少则低出生体重儿的发生率明显增高,差异均有统计学意义（P〈0．05）。结论孕妇孕前体质指数和孕期增重情况与妊高征及新生儿出生体重有关。要重视母亲孕前体重及孕期体重变化,实现优生优育。     

A prospective study of congenital malformations among live born neonates at a University Hospital in Western Saudi Arabia

OBJECTIVE: To estimate the incidence of major and minor congenital malformations among liveborn infants at King Abdulaziz University Hospital, Jeddah, Saudi Arabia. Estimation of risk factors were also evaluated. METHODS: Between March 2004 and May 2005, a total of 5356 babies born at King Abdulaziz University Hospital, were enrolled in this study for malformations. Details of cases were recorded after parents' interviews, clinical, radiological, and laboratory evaluations. RESULTS: One hundred and forty-seven (27.06/1000 livebirth) and 13 (2.39/1000 birth) stillbirth had congenital anomalies. In all livebirth, incidences of major anomalies were 93.9% and minor were 6.1%. Mothers of 95.9% with congenital malformation were healthy, 3.4% were diabetic and 0.7% had cardiac malfomation. In 38.8% of cases parents were consanguineous. Among the liveborn births, the most common system involved was cardiovascular (7.1/1000), followed by musculoskeletal/limb (4.1/1000), external genitalia (2.8/1000), urinary (2.6/1000), multiple chromosomal (2.2/1000), orofacial (1.9/1000), central nervous system (1.9/1000), skin (1.7/1000), multiple single gene (1.3/1000), multiple sequence (0.75/1000), eyes (0.56/1000), unclassified (0.19/1000), musculoskeletal/abdominal (0.19/1000), endocrine (0.19/1000). CONCLUSION: High incidence of major malformation in Jeddah. Importance of Genetic Counseling is revealed in our study since more than three quarters of mothers were under 36 years, and may well plan future pregnancies.     

Cardiovascular malformations in Malaysian neonates with Down's syndrome

A prospective study was done to determine the incidence of cardiovascular malformations in neonates with Down's syndrome. 17/34 (50%) of the babies with Down's syndrome born at the Maternity Hospital, Kuala Lumpur, Malaysia had congenital heart defects. These included 7 cases of ventricular septal defect (VSD), 3 cases of patent ductus arteriosus (PDA), 2 cases of atrio-ventricular canal defect, 2 cases of ventricular septal defect with patent ductus arteriosus, 1 case of hypertrophic cardiomyopathy, 1 case of hypertrophic obstructive cardiomyopathy and 1 case of complex cyanotic heart. Only 8/17 (47%) of these babies had any clinical signs suggesting underlying cardiac defects. In view of the common occurrence of cardiac anomalies, it is recommended that echocardiographic screening should be carried out on all neonates with Down's syndrome.     

Surveillance of malformations in Sydney in 1976

The results of a pilot study of malformations in newborn infants in two regions of Sydney in 1976 showed that the incidence of major malformations was 11.31 per 1000 live births and stillbirths, and the incidence of minor malformations was 7.33 per 1000. There were 131 stillbirths among the 12816 births in the study. There were geographical and seasonal variation and "time place clustering" of cases. There was a higher incidence of congenital heart disease and chromosomal abnormalities than in the study carried out in 1966 by Stevenson. The need for accurate diagnosis and for the provision of support and genetic counseling for the parents soon after the birth of a baby with an abnormality is stressed; these should be an integral part of total patient care.     

胎膜早破对围生儿的影响

目的　探讨胎膜早破对围生儿的影响。方法　对 2 4 2例胎膜早破进行回顾性分析。比较胎膜早破与非胎膜早破对围产儿的影响 ,分析不同孕周胎膜早破及胎膜早破时间长短对围产儿的影响。结果　胎膜早破组围生儿发病率高于非胎膜早破组 (P <0 .0 1) 。胎膜早破时孕周大小与围产儿发病率有明显的负相关关系 ,而胎膜破裂时间长短与围产儿发病率呈正相关。结论　胎膜早破对围生儿有较明显的影响。     

RetCam 3 筛查早产儿视网膜病变的 临床资料分析

目的 应用眼科广域数字成像系统（RetCam 3）筛查早产儿眼底,分析筛查结果和发病特点。方法 回顾性分析该院2014 年2 月-2016 年2 月采用RetCam 3 筛查的早产儿152 例304 眼,对其中出现早产儿视 网膜病变（ROP）的43 眼进行综合分析。结果 在152 例（304 眼）早产儿以RetCam 3 检出各期ROP 43 眼（43/304）,诊断为ROP Ⅰ期者33 眼（33/304）,Ⅱ期者6 眼（6/304）,Ⅲ期者4 眼（4/304）。本组病例中 未检出ROP Ⅳ期和Ⅴ期。双眼发病者与单眼发病者比较,双胎发病率与单胎发病率比较,均差异有统计学意 义（P <0.05）, 双眼发病者高于单眼发病者,双胎发病率高于单胎。男女、珍贵儿和自然儿之间ROP 发病率 比较,差异无统计学意义（P >0.05）。ROP 自然转归率达90%（39/43）。结论 要重视对早产儿视网膜病的筛查, 尤其双胎儿的眼底筛查,如果出现单眼发病,一定要详细检查和追踪另眼发病情况。应用RetCam 3 筛查早产 儿视网膜病变,尽可能早发现早产儿眼部异常,尽可能早治疗,减少儿童低视力和盲。     

围生儿死因的临床与病理对照分析(附141例报告)

为了解围生儿死亡原因及其相关因素,对141例围生儿临床与尸检的病理资料进行对照分析。发现围生儿病理解剖前5位死因依次为致死性畸形、出血性疾病、肺透明膜病、感染性疾病、窒息;临床前5位死因依次为窒息、致死性畸形、感染性疾病、硬肿症、出血性疾病,临床与病理诊断顺位显著不一致(P<0.01)。孕龄<37周,体质量<2500 g的早产儿死因以窒息、肺透明膜病、颅内出血、肺出血为多;死胎死产的主要原因为致死性畸形和窒息。羊水过多胎儿畸形的发生率高,羊水过少窒息的发生率高。分析认为做好围生期管理,提高产前诊断,及时采取相应措施,对优生优育至关重要。     

7712例围产儿出生缺陷监测分析

监测围产儿7712例,发现先天畸形儿67例,占8.68‰。同期围产儿死亡148例,围产儿死亡率19.19‰。125例作尸检,尸检率84.46％。148例死亡围产儿中先天畸形29例,占195.94‰,在围产儿死因中占第2位。7564例活产儿中发现畸形38例,占5.02‰。畸形以神经系统畸形、心脏缺陷,呼吸器官发育畸形等为多见,平均每例含2.09畸形次。指出加强孕期自身防护、加强产前监护、染色体检查、B型超声波检查及血清α-FP测定,可降低出生缺陷发生率。     

Incidences and types of malformations in newborn infants

The incidence of fetal malformations in a teaching hospital was determined by prospective study of 10,454 consecutively born infants. One or more major malformation was detected in 424 (4-1%) and one or more minor malformation was detected in 680 (6-5%). Major malformations were more common in stillborn infants (14-1%), in those who died in the neonatal period (36-7%) and in those who were small for dates (8-6%). Small for dates infants were the only group with a significant increase in the incidence of minor malformations (9-7%). The most common major malformations involved the genital organs (17-8%), limbs (14-2%), heart (11-4%) and central nervous system (10-6%). The most common minor malformations involved the skin, hair and nails (67-3%), limbs (7-7%) and genital organs (5-5%). Small for dates infants should be carefully examined to exclude major and minor malformations.     

新生儿尸检1000例病理分析

本组新生儿尸检1000例,占同期间儿童尸检数46.3％。男女之比为1.7:1。过半为早产儿。病种共61种,以肺部疾病为最多(36.8％),其次为先天畸形(19.9％)和感染(12.9％)。初生一周内死亡者占68.3％,此期主要死因为肺透明膜病、羊水吸入、窒息缺氧、未成熟儿、颅内出血和严重畸形等,说明新生儿早期死亡者,多与早产、分娩不当和复杂畸形有关。出生一周后死亡者则以感染为主。     

胎儿侧脑室和（或）后颅窝池增宽影像学评价与致病性拷贝数变异的差异

目的：探讨胎儿侧脑室增大（VM）和（或）后颅窝池增宽（PCFCE）影像学评价与致病性拷贝数变异（CNVs）的差异。方法：收集2015 年1月至2020 年10月温州医科大学附属第二医院育英儿童医院及玉环市人民医院经产前超声诊断为胎儿VM和（或）PCFCE共1 114例,其中468例胎儿行MRI及染色体核型分析（16～24 周羊水检测317 例,24～38 周脐血检测151例）,染色体核型正常胎儿440 例行全基因组高分辨染色体微阵列分析（CMA）检测,分析胎儿VM和（或）PCFCE程度与各系统畸形及CNVs的差异,评估妊娠结局。结果：①468例胎儿中,染色体核型异常发生率为5.98%（28/468）,其中数目异常11例,结构异常10,数目+结构异常7例,28例均引产;440例染色体核型正常胎儿中,致病性CNVs发生率为8.41%（37/440）。②440例染色体核型正常胎儿中,重度VM和（或）PCFCE组致病性CNVs发生率高于轻中度组（13.71% vs. 6.33%,P =0.012）;三组间致病性CNVs发生率比较为VM+PCFCE＞单纯PCFCE＞单纯VM（12.14% vs. 11.69% vs. 4.93%,P =0.029）。③37例致病性CNVs胎儿中,并发中枢神经系统畸形5例,泌尿生殖系统4例,心脏大血管畸形5例,消化系统畸形2例。④重度VM和（或）PCFCE组胎儿畸形发生率高于轻中度组（7.26% vs. 2.22%,P =0.020）;37例致病性CNVs胎儿中,引产23例,分娩14例。结论：重度VM和（或）PCFCE组发生致病性CNVs及胎儿畸形率较高, VM+PCFCE组致病性CNVs高于单纯VM或PCFCE组;精准的影像学评估有助于VM和（或）PCFCE胎儿的宫内转归、临床评估和遗传咨询。