Abdominal wall defects: Prenatal diagnosis,newborn management,and long-term outcomes

Omphalocele and gastroschisis represent the most frequent congenital abdominal wall defects a pediatric surgeon is called to treat. There has been an increased reported incidence in the past 10 years mainly due to the diffuse use of prenatal ultrasound. The early detection of these malformations, and related associated anomalies, allows a multidisciplinary counseling and planning of delivery in a center equipped with high-risk pregnancy assistance, pediatric surgery, and neonatology. At present times, closure of defects, even in multiple stages, is always possible as well as management of most of cardiac-, urinary-, and gastrointestinal-associated malformations. The progress, herein discussed, in the care of newborns with abdominal wall defects assures most of them survive and reach adulthood. Some aspects of transition of medical care will also be considered, including fertility and cosmesis.     

出生缺陷产前诊断的临床模式研究

目的本文对产前筛查和诊断的流程进行修改，提出新的产前诊断的模式。方法采用多科会诊的形式简化了流程，从以下几方面分析应用效果：①是否有利于提高医疗质量和诊断的准确性；②患者的依从性、满意度及可接受的程度；③是否有利于提高专业人员的知识和技术水平。结果109例高危孕妇，本院建卡38例（34．9％），外院发现问题到本院就诊71例（65．1％）。其中92例（84．5％）为妊娠早中期超声筛查发现异常，头颈部13例，胸部13例，腹部15例，泌尿系统16例。胎盘异常4例，遗传疾病及多发畸形15例，各种高危因素16例。对于致死性胎儿疾病，经三位以上专家确认后终止妊娠；围产儿出生后可能存活的，产后儿科随访，并告知新生儿期就诊流程；在妊娠期或出生后需要及时干预的，制定治疗方案。其中6例在妊娠期制定围产儿处理方案，在新生儿期及时干预，4例预后良好。结论出生缺陷的产前筛查和诊断的新模式不仅优化就诊流程，而且提高了产前诊断的准确性和效率。     

Treatment of congenital abdominal wall defects —a 25-year review of 132 patients

The outcome data of 132 patients treated at the Department of Pediatric Surgery in Mainz during the last 25 years were reviewed. Prenatal diagnosis of abdominal wall defects (AWDs) and associated malformations led to increasing selection of the patient population. The aim of primary closure of the abdominal wall can be achieved more frequently in gastroschisis (GS) than omphalocele (OC), while the postoperative course is more complicated and of longer duration in GS. Delayed or secondary closure extended the hospitalization period but had no negative effects on the outcome. Reoperations or planned secondary operations were performed in 23 patients with GS and 14 with OC. Early mortality was 15/55 for OC and 21/77 for GS over the period of 25 years. In recent years, a drastic reduction in mortality has occurred, and mortality is now mainly due to additional malformations. Further development and quality of life are not significantly reduced after survival of an isolated AWD. Malpositioning of parenchymatous organs after closure of AWDs has to be considered during pregnancy and abdominal operations.     

Muscular flaps for closure of giant abdominal wall defects

In this article we describe the use of muscle flaps in closing giant abdominal wall defects. The technique used to take the flaps from the anterior rectum, internal and external oblique muscles are shown. We emphasize the advantages of using this technique, which avoids the use of synthetic materials, such as Teflon and Marlex mesh. Correspondence to: Antonio F. Gallardo Meza     

A comparison of prosthetic materials used to repair abdominal wall defects

Large abdominal wall defects may require a prosthesis for closure. The aim of our study was to identify the best material for abdominoplasty in pediatric patients. One hundred twenty-eight Wistar KY strain male rats (3 weeks old) were used. All animals underwent celiotomy via a midline skin incision. They were divided into seven groups as follows: the animals in groups 1 through 6 underwent full-thickness abdominal wall excision 3 cm in diameter. The animals in group 1 underwent primary closure. In groups 2 through 6 the defect was closed with prosthetic material. In Group 7, a sham operation was performed. Daily weights were measured. The animals were killed after 3 and 9 weeks. Adhesion scores were assigned for each group. Vicryl mesh resulted in the fewest adhesions and had no effect on weight gain in the developing rats. Accepted: 11 June 1997     

Fetal thoracic measurements in prenatal diagnosis of jeune syndrome

We describe prenatal sonographic findings in a 34-week fetus with Jeune syndrome or asphyxiating thoracic dystrophy (ATD). The long bones measured were less than third percentile; the thoracic circumference (TC) measured 216 mm (< 2.5th percentile); the abdominal circumference (AC) measured 303.5 mm (50th – 75th percentiles) and the rib cage perimeter (RCP) measured was 98 mm. The TC/AC was 0.70 (normal, 0.85) and the RCP/TC was 0.45 (normal, 0.68). Following birth diagnosis of Jeune syndrome was made based on radiographic analysis, which was subsequently confirmed by clinical and postmortem examination. This case highlights the utility of both TC/AC and RCP/TC in diagnosis of ATD and other skeletal dysplasias associated with a small thorax.     

Prenatal diagnosis of congenital heart defects - a population based study

Aim: The aim of this study was to describe the efficiency of routine prenatal ultrasound screening for the detection of cardiac defects in a Swedish region and to study the effect of prenatal diagnosis on the survival and outcome of the child.
Methods: We identified all fetuses and infants with a diagnosed major cardiac defect born in 1999–2003 in a region of Sweden using a register of the regional paediatric cardiac clinic, various health-care registers and registers of prenatally detected malformations. The outcome of newborns with and without a prenatal diagnosis of a cardiac defect was compared.
Results: During the study period, 77 241 infants were born in the area. Among 145 major cardiac defects, 21% were detected prenatally. For the two university departments the detection rate was 38%. Of the major cardiac defects diagnosed <23 gestational weeks, 30% were terminated. No significant difference in the outcome was found between children with and without a prenatal diagnosis of a major cardiac defect.
Conclusions: It could not be shown that survival and outcome for children with major cardiac defects was better when the defect was known prenatally than if it was detected postnatally. The size of the study prohibits conclusions on moderate differences.     

The outcome of newborns with abdominal wall defects according to the method of abdominal closure: the experience of a single center

Recent reports suggest that the technique of abdominal closure in neonates with anterior abdominal wall defects (AWD) correlates with the outcome. The aim of this study is to analyze factors related to mortality and morbidity, according to the technique of abdominal closure of these neonates. Retrospective analysis of charts from 76 consecutive neonates with AWD treated in a single institution. They were divided according to the type of abdominal wall closure: group I: primary closure, group II: silo followed by primary closure and group III: silo followed by polypropylene mesh. Outcome was analyzed separately for neonates with gastroschisis and omphalocele. There were 13 deaths (17.1%). Mortality for neonates with isolated defects was 9.6%. Mortality rate was similar in all groups for either neonates with gastroschisis or omphalocele. Postoperative complications were not significantly different among groups except for a prolonged time of hospitalization in group III. Mortality rate is not correlated with the type of abdominal closure. Neonates with primary closure or with other methods of abdominal wall closure had similar rate of postoperative complications. Neonates with mesh closure of the abdomen have prolonged hospitalization. The use of a polypropylene mesh is a good alternative for neonates whose primary closure or closure after silo placement is not possible.     

Long-term results following repair of neonatal abdominal wall defects with Gore-Tex

Animal studies and clinical experience in adults suggest that the Gore-Tex patch, because of its strength and lack of reactivity, is superior to other synthetic materials as a fascial replacement. We report our experience with Gore-Tex for the repair of neonatal abdominal wall defects when direct fascial closure was not possible. Between January 1985 and July 1992, 84 patients underwent repair of an omphalocele or gastroschisis. Ten of these were repaired with a Gore-Tex patch. Follow-up averaged 2.2 years (range 13–63 months). Data collected were graft life (time from insertion to removal), patch-related complications such as exteriorization (exposure of the patch due to dehiscence of the overlying skin), presence or absence of local and/or systemic infection, and patch separation (separation of the sutured edge of the patch from the fascia). The ease of removal as well as the appearance of the wound after patch removal was documented. Patch-related complications were divided into early (30 days postoperatively), and late (> 30 days). All ten patients required graft removal because of patch-related complications. The median time to removal was 90 days (range 20–540). There were a total of 12 complications in the ten patients. Three had early complications; three had exteriorized patches and two had concomitant local infections. Seven patients had late complications. Exteriorization was less common in this group, occurring in two cases. Local infections occurred in five of seven patients. Patch removal was necessary to clear the infection in all cases. No patient developed systemic sepsis or enteric fistulae. The patch was removed easily and there were no bowel-to-patch adhesions. Fascial closure was successfully accomplished in all patients regardless of the size of the initial defect. In no case did removal of the patch and secondary closure of the abdominal wall result in a ventral hernia. This study demonstrates that: (1) Gore-Tex patch closure of neonatal abdominal wall defects is associated in all cases with either early or late exteriorization and/or infection; (2) removal is easy and complication-free because it does not incorporate into the tissue and is relatively non-reactive; and (3) following removal of the patch it is possible to successfully close the abdominal wall defect. We conclude that Gore-Tex is a useful synthetic material for closure of neonatal abdominal wall defects, but should be considered a temporary bridge to subsequent fascial closure.     

Prenatal detection of pulmonary hypoplasia in giant omphalocele

Respiratory insufficiency has sometimes been reported in giant omphalocele. To determine whether ultrasonic fetal lung measurements including lung/thorax transverse area ratio (L/T) and chest/trunk length ratio (C/T) may be useful in predicting associated pulmonary hypoplasia, 28 fetuses with abdominal wall defects between 1991 and 2003 were reviewed. Nine patients with gastroschisis and 19 with omphalocele were classified into three groups. A group with neonatal death and postmortem lung/body weight ratio below 0.012, which was defined as pulmonary hypoplasia (PH group), included two ruptured giant omphaloceles and two giant omphaloceles with intact covering membrane in utero. A group with artificial ventilation more than 3 months, which was defined as prolonged ventilation (PV group), included one ruptured giant omphalocele and three giant omphaloceles with intact covering membrane. Others were defined as ordinary group. In 12 fetuses with giant omphalocele, the evisceration rate of the liver (LER) was measured in the fetal transverse abdominal dimension including the base of the liver. The L/T in PH group was significantly decreased to other groups. The C/T in PH group was significantly increased to ordinary group. There was no significant difference in the LER among three groups. A measurement of L/T may be useful in predicting associated pulmonary hypoplasia in giant omphalocele. However, antenatal detection of patients required prolonged ventilation may be difficult and require further study.     

Parental experiences after prenatal diagnosis of fetal abnormality

For many pregnant women, prenatal testing is a routine component of contemporary pregnancy care. Receiving a prenatal diagnosis is frequently associated with intense feelings of shock and grief; the extent of which may be unrelated to the pregnancy gestation or the condition diagnosed. During this time of crisis, parents are often faced with important choices about their pregnancy. Levels of understanding and experiences of professional support throughout this time likely impact decisions that are made and how they are subsequently perceived. Despite considerable advances in prenatal testing technologies over the last 20 years there is a paucity of research examining parental experiences in-depth. Future advances such as prenatal exome sequencing will further increase the scope of prenatal testing and numbers of parents who receive a prenatal diagnosis. It is imperative that large-scale studies are performed to ensure that protocols are in place to adequately support couples at this time.     

The perinatal management of gastroschisis

Gastroschisis is increasing in frequency and is becoming a common condition. It is now invariably detected antenatally and although the long-term outcome in the majority of cases is excellent, the existence of both fetal and postnatal complications has led to variations in practice to try to optimise outcome. This article reviews the evidence for some of these variations where such evidence exists and provides a contemporary view of best practice where it does not.     

2006~2012年北京市通州区出生缺陷患病率的动态变化

目的 了解北京市通州区2006~2012 年出生缺陷患病率的变化趋势和流行特征,为出生缺陷预防提供参考依据.方法 依据2006~2012 年北京市通州区出生缺陷监测系统资料,对出生缺陷的患病率及变化趋势等进行统计学分析,同时计算出生缺陷产前检出比例.结果 7 年间共监测到活产儿92 340 例,出生缺陷儿1 165 例,患病率为12.62‰,呈上升趋势(χ2= 6.77,P<0.01).户籍人口的出生缺陷患病率(11.55‰)低于流动人口(13.27‰),前者无趋势性变化,后者呈上升趋势(χ2= 25.02,P<0.01).出生缺陷患病率前5位分别是先天性心脏病、多指(趾)、唇腭裂、神经管缺陷、外耳畸形.先天性心脏病和“其他”类别的出生缺陷患病率呈上升趋势,而神经管缺陷患病率呈下降趋势.先天性心脏病产前检出比例逐年上升(χ2= 14.80,P<0.01).结论 2006~2012 年北京通州区出生缺陷患病率呈上升趋势,主要与流动人口出生缺陷率上升,监测出生缺陷类型不断扩展以及先天性心脏病诊断水平提高有关.     

儿童期脊肌萎缩症的基因诊断及产前基因诊断

为建立脊肌萎缩症（ＳＭＡ）产前诊断方法，应用３个与ＳＭＡ基因紧密连锁的ＣＡ重复序列位点ＪＫ５３ＣＡ１／２、５ＤＳ６３７、ＣＡＴＴ１，对１８个ＳＭＡ家系进行了连锁分析；应用聚合酶链反应－单链构型多态性（ＰＣＲ－ＳＳＣＰ）分析，对３７例ＳＭＡ患儿作了ＳＭＡ基因缺失的检测；并作２例ＳＭＡ产前诊断。结果：１８个家系通过ＪＫ５３ＣＡ１／２位点诊断１２个（可诊断率６６．７％），通过５ＤＳ６３７位点诊断１４个（７．８％），１０个ＳＭＡ家系通过ＣＡＴＴ１位点诊断９．５个（９５．０％）；３７例患儿中３２例（８６．５％）有端粒侧ｅｘｏｎ７的纯合性缺失；２例接受产前诊断者，１例胎儿患病，１例胎儿为正常。结论：应用ＳＭＡ基因旁侧ＣＡ重复序列联合ＰＣＲ－ＳＳＣＰ检测进行ＳＭＡ基因诊断和产前诊断简便、准确、可应用于临床。     

Congenital adenomatoid disease of the lung: prenatal diagnosis and perinatal management

Prenatal ultrasonographic (US) detection of congenital adenomatoid malformation (CAM) was made in 18 fetuses at 17–36 weeks' gestation and managed in our institution during a 10-year period (1985–1994). The lesion was left-sided in 13 cases, right-sided in 4, and bilateral in 1. According to Stocker's classification, 12 cases were type I, 4 type II, and 2 type III. The prenatal course was followed with serial US examinations in 13 cases; the size of the lesion was stable in 8 and decreased in 5. Mediastinal shift was usually observed, and amniotic fluid volume was increased in 4 cases. One fetus was aborted. Six infants presented with respiratory distress syndrome and required neonatal surgery; delayed surgery was performed in 9 cases. Spontaneous regression of the lesion was observed on follow-up in 2 cases. Surgery consisted in lobectomy in 8 cases and segmentectomy in 6. The presence of fetal hydrops, type III lesions, and bilateral lung involvement are prenatal factors known to be associated with a poor prognosis. However, this series and a review of the literature suggest that caution should be observed with regard to the initial impression when counseling the parents regarding prognosis.     

Abdominal wall and psoas abscesses in children

Seventy-seven cases of pyogenic abdominal wall abscess and 33 cases of psoas abscess admitted to the Red Cross Children's Hospital are reviewed separately. The difficulty encountered in diagnosis, particularly in deep-seated abdominal wall abscesses, is emphasised as resulting in delays in treatment. Ultrasound accurately delineated the abscess in 80% of cases submitted for this investigation. Surgical drainage proved effective therapy, and Staphylococcus aureus was the causative organism in more than 80%. No long-term sequelae were encountered. Offprint requests to: R. A. Brown     

Lower abdominal wall flap for closure of large diaphragmatic defects

A method of closure of diaphragmatic herniae with large defects is described in two children using a muscle flap of internal oblique and transversus abdominus from the inferior aspect of the wound. The advantages are that the flap is large, easily accessible, autologous, assists in resultant wound closure, and requires no separate incision. It differs from previously described flaps as it is taken from below the subcostal wound and is not limited in size or length by the costal margin. Correspondence to: W. D. A. Ford     

脊髓性肌萎缩的基因诊断和产前基因诊断研究

目的探讨中国人脊髓性肌萎缩(SMA)基因诊断和产前基因诊断的可行性。方法应用复合聚合酶链反应-限制性片段长度多态(PCR-RFLP)方法对31例SMA患儿进行神经元存活基因(SMN)第7外显子缺失分析,并对2例有SMA阳性家族史的家系进行了产前基因诊断。结果96.8％(30／31)SMA患儿携有SMN基因第7外显子缺失。2例产前基因诊断的病例均无SMN基因第7外显子缺失。结论SMN基因缺失检测技术可用于SMA患儿的基因诊断和产前基因诊断。     

Cultural variation in values attached to informed choice in the context of prenatal diagnosis

One of the ethical implications of the widespread introduction of non-invasive prenatal diagnosis (NIPD) is that it might undermine the making of informed choices. There is an almost universal agreement among health professionals and policy makers that prenatal testing decisions should reflect informed choices. It is, however, unclear the extent to which this is a universally held value. We present evidence to suggest that although informed choice is highly valued in Western, individualistically orientated countries, it is less highly valued in non-Western, more collectivist countries. This raises questions as to whether it is beneficial - and indeed appropriate - to recommend facilitating informed choices in countries where this is not a dominant value.     

X连锁肾上腺脑白质营养不良的携带者筛查及产前诊断探讨

目的探讨X连锁肾上腺脑白质营养不良(X linkedadrenoleukodystrophy,X ALD)的携带者筛查及产前诊断方法。方法应用气相色谱质谱联用法对83例X ALD可疑携带者血浆、9例高危孕妇羊水细胞及其中5例胎儿出生后的血浆中极长链脂肪酸(VLCFAs)水平进行了检测。应用PCR、测序方法对31例X ALD可疑携带者及羊水细胞VLCFAs增高的男性及女性各1例进行了基因突变分析。结果83例X ALD可疑携带者中,51例血浆VLCFAs水平增高,31例ABCD1基因突变分析,29例有突变。9例胎儿中,7例羊水细胞VLCFAs水平正常,2例增高(1例男性,1例女性)。5例出生后进行了血浆VLCFAs水平检测,结果与产前诊断结果相一致。2例羊水细胞VLCFAs水平增高的胎儿,均有ABCD1基因突变,其核苷酸与氨基酸的改变分别为871G>A(E291K)和726G>A(W242X)。结论血浆及羊水细胞中VLCFAs水平检测结合基因突变分析可以准确地进行X ALD携带者筛查及产前诊断。