Perinatal autopsy—A seven-year study

A retrospective analysis of autopsies conducted on perinatal deaths during 7 years period (Oct 1983 to Sept 1990) was done. There were 650 neonatal deaths and 944 still births during the study period. Autopsy rates among neonates and still births were 33% and 4.9% respectively. There ware significant findings in 97.2% of neonatal deaths and in all still births. Pulmonary lesions followed by congenital malformations were the major pathological findings. Infection was observed among smaller number of babies compared to other Indian studies. Autopsy revealed many internal congenital malformations which were not diagnosed clinically. Autopsy changed or added to clinical diagnosis in 59.5% of cases. Perinatal autopsy is highly productive in our set up.     

Subependymal pseudocysts in the neonate

Serial ultrasound examinations were performed through the anterior fontanelle to detect and follow subependymal pseudocysts (SP) in 19 neonates without severe malformations. A high-resolution real-time sector scanner was employed. In 8 cases the SP involved both lateral ventricles, in 11 cases they were unilateral and in 7 neonates they were associated with other cerebral abnormalities. Follow up showed that in 13 cases the SP had disappeared by 9 months. No neurodevelopmental abnormalities have so far been observed in the 11 children with isolated SP at birth, while in 5 of the 7 cases with associated cerebral abnormalities neurodevelopmental sequelae developed.Abbreviation SP subependymal pseudocyst     

Hypospadias: pathophysiology and etiologic theories

Hypospadias is a congenital defect of the male urethra and phallus. Most boys with hypospadias have no other signs of under-masculinization or congenital malformations. The incidence appears to be increasing in the developed world. Evidence suggests that the etiology of hypospadias is multifactorial and that environmental conditions may have a role in the increasing incidence. The authors review normal male urethral development, epidemiology and the role of maternal-fetal hormone interactions, androgen synthesis, 5alpha-reductase, androgen receptor, environmental factors and assisted reproductive technology.     

先天性呼吸系统畸形234例临床分析

目的 探讨先天性呼吸系统畸形的类型和临床特点,提高对该类疾病的早期诊断率.方法 对温州医学院附属育英儿童医院呼吸科2003年7月至2008年6月收治的234例先天性呼吸系统畸形的类型、临床和影像学资料等进行总结分析.结果 234例先天性呼吸系统畸形患儿诊断时年龄1 d～14岁,平均1.12岁,主要症状为持续喉喘鸣、反复喘息、反复呼吸道感染、呼吸困难等.通过胸片、螺旋CT三维重建、纤维支气管镜和喉镜等检查,确诊复合畸形21例,单发畸形213例.单发畸形213例中,喉部畸形(97例)包括先天性喉软骨软化症90例,先天性喉蹼5例,先天性喉囊肿2例;气管支气管畸形(35例)包括先天性(支)气管狭窄17例,先天性支气管起源异常7例,气管支气管软化10例,气管食管瘘1例;肺部畸形(43例)包括肺隔离症5例,先天性肺囊肿22例,先天性大叶性肺气肿1例,肺不发育和发育不全8例,先天性肺囊性腺瘤样畸形7例;膈肌畸形(38例)包括先天性膈疝20例,先天性膈肌膨出症18例.经手术确诊的37例肺部畸形和36例膈肌畸形中,术前经临床和影像学做出初步诊断分别占83.78%和91.67%.28例先天性(支)气管狭窄(含复合畸形11例)经螺旋CT三维蕈建联合纤维支气管镜检查确诊;10例先天性支气管起源异常(含复合畸形3例)经螺旋CT三维重建诊断.喉软化和(支)气管软化的诊断依靠喉镜和纤维支气管镜检查.结论 对于持续喉喘鸣、反复喘息、反复呼吸道感染、呼吸困难的患儿应考虑到先天性呼吸系统畸形的诊断,其类型分为喉部畸形、气管支气管畸形、肺部畸形和膈肌畸形.影像学检查和呼吸内镜对先天性呼吸系统畸形的诊断有着十分重要的作用.     

Male hypospadias, 625 cases, associated malformations and possible etiological factors.

Records from 625 patients with hypospadias have been reviewed, with reference to associated malformations. Cryptorchidism was found to be the most common associated malformation and was present in 6% of cases with hypospadias. The highest incidence of cryptorchidism was found in the more severe forms of hypospadias. Other concomitant genital malformations, such as bifid scrotum, hypoplasia of penis and remnants of the Müllerian system showed the same pattern. The recorded incidence of bifid scrotum and hypoplasia of the penis was 4% and 8% respectively. A high incidence of abnormalities in the lower urinary tract was found; 50% of 84 patients investigated. The hypothesis of hypospadias being a result of testicular hormone insufficiency is discussed.     

MALE HYPOSPADIAS, 625 CASES, ASSOCIATED MALFORMATIONS AND POSSIBLE ETIOLOGICAL FACTORS

Abstract. Records from 625 patients with hypospadias have been reviewed, with reference to associated malformations. Cryptorchidism was found to be the most common associated malformation and was present in 6% of cases with hypospadias. The highest incidence of cryptorchidism was found in the more severe forms of hypospadias. Other concomitant genital malformations, such as bifid scrotum, hypoplasia of penis and remnants of the Müllerian system showed the same pattern. The recorded incidence of bifid scrotum and hypoplasia of the penis was 4% and 8% respectively. A high incidence of abnormalities in the lower urinary tract was found; 50 % of 84 patients investigated. The hypothesis of hypospadias being a result of testicular hormone insufficiency is discussed.     

Congenital malformations in a series of 66,068 consecutive births

Registration of congenital malformations began in 1979 in the French department of Bas-Rhin. 99.97% of all births were screened. We studied 66,068 consecutive births between 1979 and 1983. Malformations were present in 1.6% of neonates. The incidence of major malformations was 2.01%. The most frequent malformations consisted of congenital heart defects 33.9%). The incidence of the various congenital malformations was studied. Improvement of registration of congenital malformations was the consequence of postnatal and prenatal use of ultrasonography. An increase in the incidence of malformed neonates and fetuses was registered (1.31% in 1980; 2.13% in 1983). The number of termination of pregnancy because of the prenatal discovery of a major malformation has been increasing.     

Socioeconomic inequalities in risk of congenital anomaly.

AIMS: To investigate socioeconomic inequalities in the risk of congenital anomalies, focusing on risk of specific anomaly subgroups. METHODS: A total of 858 cases of congenital anomaly and 1764 non-malformed control births were collected between 1986 and 1993 from four UK congenital malformation registers, for the purposes of a European multicentre case control study on congenital anomaly risk near hazardous waste landfill sites. As a measure of socioeconomic status, cases and controls were given a value for the area level Carstairs deprivation index, by linking the postcode of residence at birth to census enumeration districts (areas of approximately 150 households). RESULTS: Risk of non-chromosomal anomalies increased with increasing socioeconomic deprivation. The risk in the most deprived quintile of the deprivation index was 40% higher than in the most affluent quintile. Some malformation subgroups also showed increasing risk with increasing deprivation: all cardiac defects, malformations of the cardiac septa, malformations of the digestive system, and multiple malformations. No evidence for socioeconomic variation was found for other non-chromosomal malformation groups, including neural tube defects and oral clefts. A decreasing risk with increasing deprivation found for all chromosomal malformations and Down's syndrome in unadjusted analyses, occurred mainly as a result of differences in the maternal age distribution between social classes. CONCLUSION: Our data, although based on limited numbers of cases and geographical coverage, suggest that more deprived populations have a higher risk of congenital anomalies of non-chromosomal origin and some specific anomalies. Larger studies are needed to confirm these findings and to explore their aetiological implications.     

Coarctation of the aorta in the newborn: a clinical study

The clinical findings and presentation in nine consecutive neonates in whom coarctation of the aorta was diagnosed over a period of two years were reviewed. Coarctation of the aorta constituted 16% of all infants with congenital cardiovascular malformations admitted to the Neonatal Intensive Care Nursery. The mean age on admission was 8.3 days. The admission findings included absent femoral pulses, 5; feeble femoral pulses, 4; differential blood pressure between upper and lower extremities, 9; congestive heart failure, 8; hypertension, 2; and failure to thrive, 1. Five of the infants died owing to refractory congestive heart failure at the mean age of 10.2 days. It is emphasized that palpation of the femoral pulse should be a routine examination in the neonatal period in order to detect coarctation of the aorta and that surgical intervention may be considered in cases refractory to medical management.     

Congenital cardiovascular malformations in twins and triplets from a population-based study

Data from the Baltimore-Washington Infant Study of congenital cardiovascular malformations permitted detailed analysis of congenital cardiovascular malformations in 62 twins and 3 triplets and 2303 singleton cases. A probability sample of controls (n = 2793) included 43 twins. The case prevalence of multiple births was 28 of 1000, compared with a 15 of 1000 prevalence among controls (chi 2 = 5.7). There were more girls among case twins than among case singletons and controls (chi 2 = 9.0). Monozygosity was no more frequent in case twins than in controls. Looping defects occurred in 4 monozygotic twin pairs compared with only 1 dizygotic twin pair. The twinning process itself may be implicated in the development of congenital cardiovascular malformations in some of these infants, especially those with looping defects, but concordance of types of defects in 4 of 65 pairs implicates genetic factors in the determination of some forms of congenital cardiovascular malformations.     

Echocardiographic screening in neonates undergoing surgery for selected gastrointestinal malformations.

To compare echocardiography with clinical examination, radiography, and electrocardiography for the detection of congenital heart defects (CHD) a four year prospective study was carried out in 166 neonates with selected congenital gastrointestinal malformations (anorectal anomaly, tracheo-oesophageal fistula, duodenal atresia, exomphalos, and gastroschisis). Routine examination and investigation detected CHD in 16 neonates. Using echocardiography CHD was diagnosed in 38 (23%) neonates of whom five had two gastrointestinal malformations: in 22/57 (39%) with a tracheo-oesophageal fistula, 10/67 (15%) with an anorectal anomaly, 4/20 (20%) with exomphalos, 6/20 (30%) with duodenal atresia, and 1/7 with gastroschisis. A significantly higher incidence of CHD in neonates with gastrointestinal malformations was diagnosed using echocardiography (23%) compared with routine examination and investigation (9%). Early diagnosis of CHD allowed a unified approach to be presented to the family.     

��ͯ�������Զ���20���ڶ�������� CT������Ӧ�÷���

目的探讨儿童感音神经性耳聋(SNHL)内耳多层螺旋CT(MSCT)特点及其对诊断的价值。方法选取2008年1月至2010年12月中国医科大学附属盛京医院经脑干听觉诱发电位(BAER)诊断儿童SNHL患儿65例,均行内耳MSCT扫描,然后行冠状面多平面重建(MPR)。结果 20例(33只耳,45例次)存在内耳畸形,其中12只耳多种畸形并存,包括耳蜗畸形伴内耳道畸形5只耳;耳蜗畸形伴前庭导水管扩大3只耳;前庭畸形伴内耳道畸形2只耳;半规管畸形伴前庭导水管扩大1只耳;内耳道畸形伴前庭导水管扩大1只耳。45例次畸形中耳蜗畸形10例次[包括Michel型1例次、共同腔畸形2例次、耳蜗未发育1例次、耳蜗发育不全1例次、不完全分隔Ⅰ型2例次、不完全分隔Ⅱ型(Mondini畸形)3例次]、前庭畸形7例次、半规管畸形5例次、内耳道畸形8例次、前庭导水管扩大15例次。结论根据MSCT检查结果显示多数SNHL患儿存在内耳畸形。内耳横断面MSCT扫描和冠状面MPR可对儿童先天性SNHL内耳畸形进行全面评估,从而为进一步指导治疗及预后提供有力依据。     

Congenital Malformations in Newborns from Diabetic Mothers*

It has been well known that there is a high incidence of congenital malformations in newborns from diabetic mothers when the mothers' diabetes control before and during pregnancy is poor. We treated 438 pregnant diabetics who bore 443 children between February 1964 and June 1992. Among these children, there were 51 cases (11.5%) with congenital malformations, 21 cases with major anomalies (4.7%) and 30 cases with minor anomalies (6.8%). The type of malformations are not related to special organs; heart malformations and cleft lips are relatively frequent compared to other types of malformations. The mechanism of the congenital malformations in newborns from diabetic mothers remains unclear. However, clinically and experimentally it has been found to be due to fuel-mediated teratogenesis. Since October 1978, HbAi has been used as an index of diabetic control and the relationship between congenital malformations and the mother's diabetes control has been observed. 1) There is no difference in the incidence of malformations in children from IDDM and NIDDM mothers. However, there are more severe malformations in the children from IDDM mothers compared to those from NIDDM mothers. 2) Mothers who bore children with major malformations had all made their first visit to our hospital after pregnancy. HbAi in the IDDM mothers who had children with malformations at the first visit was 11%. 3) In the NIDDM mothers, even if HbAi levels are near normal, children with major malformations were born and there was little relationship between congenital malformations and the mothers' diabetes control. These data suggest that there are two kinds of congenital malformations in children from diabetic mothers, fuel-mediated teratogenesis, and malformations as seen in children from non-diabetic mothers.     

先天性无肛畸形Gli2基因表达的研究

目的：探讨先天性肛门直肠畸形直肠末端SHH转录反应因子Gli2基因表达水平与畸形的关系。方法：采用RT－PCR方法检测16例不同类型先天性肛门直肠畸形直肠后壁末端及8例正常直肠后壁末端Gli2的表达水平,应用t检验比较正常组与畸形组、不同畸形类型之间Gli2表达水平的差异。结果:肛门直肠畸形直肠后壁末端Gli2的表达水平明显低于正常直肠（P＝0．01）,各不同类型畸形之间Gli2表达水平无明显差异（P＞0．05）。结论：Gli2表达水平减低与肛门直肠畸形的发生有关,还有其他机制参与该畸形的发生。     

新生儿心导管术26例分析

目的：新生儿心导管术在我国开展很少,该文总结了26例新生儿心导管术,探讨了其特点及在先天性心脏病诊断和治疗中的重要性。方法：新生儿患者26例,年龄5～28d,体重2300～4500g。行右室造影24例,左心系统造影20例;肺静脉楔入造影6例;其中10例行房间隔球囊造口术。结果：诊断紫绀型复杂心血管畸形20例,无紫绀型心血管畸形4例。2例行先天性心脏病术后心内临时起搏器安装。心导管术中非致死性有意义并发症占15.3%,无死亡者。结论：心导管术依然是诊断新生儿复杂心血管畸形最为准确的方法;介入性心导管在新生儿心导管术中将保持重要地位。     

11q24-q25缺失2例临床表型及文献复习

目的 应用全基因组微阵列芯片平台,对临床发现的多发性畸形患儿进行全基因组拷贝数变异（CNVs）的检测,并寻找基因型与临床表型的关系。方法 采用cytogenetic whole genome芯片筛查全基因组CNVs,针对发现的CNVs进行分析,参照国际基因组CNVs多态性数据库除外正常人群多态性CNVs。结合本研究2例与已报道的Jacobsen综合征(JBS)患儿的临床表型进行比较。结果 2例患儿SNP芯片分析为11q24-q25缺失（7.5和5.6 Mb）,均为末端的非单纯性缺失,例1存在12号染色体短臂的较大片段重复（11.5 Mb）,例2存在 11号染色体短臂的大片段重复（32.5 Mb）。2例共同缺失的部分均为JBS的关键区段,但临床表型与已报道的JBS患儿有所区别。2例均表现为头面部畸形、心血管系统异常和头颅影像学异常,均未发现血液系统异常。例1还表现为隐睾,例2表现为脾肿大。结论 对临床上难以诊断的多发性畸形可采用全基因组CNVs检测,以帮助明确诊断,对于丰富这一区段临床表型信息具有重要意义,尤其针对罕见疾病,更多的相似报道的后续出现,才能使建立表型-基因型关联性成为可能。     

尿道下裂的MAMLD1基因研究

目的分析尿道下裂患儿MAMLD1基因突变的比例，探讨该基因在尿道下裂发病中的作用。方法收集100例单纯尿道下裂患者进行MAMLD1基因检测，为实验组，随机选取健康人群来源的200条x染色体为对照组。直接测序检测MAMLD1基因编码区外显子的序列。结果发现2个位点碱基改变（c．1699C〉T，c．1985A〉G），其中C．1985A〉G为已报道的SNP；c．1699C〉T未报道过，通过Fisher精确概率法比较正常和尿道下裂患者中出现的频率，结果无统计学意义（P=0．625）。结论MAMLD1基因不是我国单纯尿道下裂发生的热点基因。c．1699C〉T是MAMLDl基因新发现的SNP。     

Socioeconomic inequalities in risk of congenital anomaly

AIMS—To investigate socioeconomic inequalities in the risk of congenital anomalies, focusing on risk of specific anomaly subgroups.METHODS—A total of 858 cases of congenital anomaly and 1764 non-malformed control births were collected between 1986 and 1993 from four UK congenital malformation registers, for the purposes of a European multicentre case control study on congenital anomaly risk near hazardous waste landfill sites. As a measure of socioeconomic status, cases and controls were given a value for the area level Carstairs deprivation index, by linking the postcode of residence at birth to census enumeration districts (areas of approximately 150households).RESULTS—Risk of non-chromosomal anomalies increased with increasing socioeconomic deprivation. The risk in the most deprived quintile of the deprivation index was 40% higher than in the most affluent quintile. Some malformation subgroups also showed increasing risk with increasing deprivation: all cardiac defects, malformations of the cardiac septa, malformations of the digestive system, and multiple malformations. No evidence for socioeconomic variation was found for other non-chromosomal malformation groups, including neural tube defects and oral clefts. A decreasing risk with increasing deprivation found for all chromosomal malformations and Down''s syndrome in unadjusted analyses, occurred mainly as a result of differences in the maternal age distribution between social classes.CONCLUSION—Our data, although based on limited numbers of cases and geographical coverage, suggest that more deprived populations have a higher risk of congenital anomalies of non-chromosomal origin and some specific anomalies. Larger studies are needed to confirm these findings and to explore their aetiological implications.     

Congenital cardiac malformations in neonates with apparently isolated gastrointestinal malformations

Background:  The association of congenital cardiac malformations (CCM) with malformations of the gastrointestinal tract/abdominal wall is known. Nevertheless, the data presently available are derived from patient populations that include some special conditions known to be associated with a high rate of CCM. The aim of the present study was therefore to determine the incidence of cardiac malformations among neonates with apparently isolated malformations of the gastrointestinal tract/abdominal wall.
Methods:  A total of 201 neonates with apparently isolated gastrointestinal malformations were screened on echocardiography.
Result:  Thirty-six (17.9%) of the neonates were diagnosed as having a CCM. When the four most frequent gastrointestinal malformations were evaluated, a CCM was diagnosed in 11/69 (15.9%) with anal atresia, in 9/38 (23.7%) with tracheoesophageal fistula/esophageal atresia, in 2/25 (8%) with diaphragmatic hernia and in 5/17 (29.4%) with intestinal atresia. In 11 of 36 patients (30.6%) with CCM, the cardiac problems were hemodynamically significant, requiring anti-congestive and/or surgical treatment.
Conclusion:  A significant number of neonates with apparently isolated gastrointestinal malformations had CCM. Because almost all patients with malformations of the gastrointestinal tract/abdominal wall require early surgical intervention, they should be evaluated on echocardiography to investigate CCM at the earliest opportunity.     

Neuropathology and immunohistochemistry of the brain-stem in neonates with congenital hydrocephalus: Comparative studies between aqueductal stenosis and Arnold-Chiari malformation

Neuropathological and immunohistochemical studies were done on the brain-stem of neonates who had congenital hydrocephalus with aqueductal stenosis or Arnold-Chiari malformation (ACM). The infants with aqueductal stenosis showed heterogeneity in their clinicopathological findings while the infants with ACM were relatively similar in neuropathological findings. There were prominent astrogliosis, decreased immunoreactivity with antisera to tyrosine hydroxylase and myelin basic protein in the periaqueductal area, and an increased reactivity with antiserum to substance P in the tegmentum of most patients with aqueductal stenosis and other malformations. In ACM, there was little gliosis in the tegmentum and periaqueductal area and minimal immunoreactivity of tyrosine hydroxylase, myelin basic protein and substance P. In both groups of cases, the cells in the periaqueductal region differ in neurotransmitter/neuromodulator immunoreactivity and degree of myelination reflecting a difference possibly in their maldevelopment.