基于产前诊断的产房外科模式下新生儿急诊手术

目的 探讨产房外科模式开展新生儿手术的组织实施及其对预后的影响.方法 回顾性分析22例产房外科手术病例的产前诊断、产前咨询、手术治疗、术后合并症以及预后情况.结果 22例中,脐膨出6例,腹裂4例,先天性膈疝7例,颈部淋巴管瘤2例,泄殖腔外翻1例,腰骶部脊膜膨出2例.所有患儿产前诊断与手术后诊断相符.均顺利完成手术,其中3例膈疝患儿术后死于肺发育不良,脐膨出和泄殖腔外翻各1例需2次手术,1例颈部淋巴管瘤术后复发.结论 在产前诊断明确后,合理选择产房外科模式实施手术可以改善严重结构异常新生儿的预后,减少并发症.     

产前诊断脐膨出胎儿80例结局分析

目的了解80例产前诊断为脐膨出胎儿的结局。方法回顾性分析2004年12月到2010年1月广东省妇幼保健院产前超声检查诊断为“先天性脐膨出”的患儿临床资料,通过医院信息系统和电话随访相结合,记录孕妇和新生儿的诊疗资料。结果80例中,36例脐膨出胎儿伴发结构畸形,其中4例失访,3例行脐带血染色体检查,1例为47XXY,31例终止妊娠,1例死胎;44例单发脐膨出,5例失访,11例行脐带血染色体检查,均正常,28例终止妊娠,11例活产,其中1例出生时未见脐膨出,1例巨大脐膨出患儿一期手术后死亡,1例巨型脐膨出患儿予非手术治疗,8例小型脐膨出患儿均经一期手术治疗,无一例死亡,术后发育良好。结论运用产前超声和染色体检查等仔细甄别胎儿脐膨出,通过宫内转运或新生儿转运开展早期诊治,获产前诊断的单发小型脐膨出可以继续妊娠。     

先天性脐膨出外科治疗体会(附9例报告)

目的探讨先天性脐膨出患儿的临床表现诊断和治疗。方法分析1994～2003年的收治患儿的病情及治疗结果。结果9例病例，4例尚未手术就因感染而死亡，5例因治疗及时均获得成功。结论先天性脐膨出患儿经过及时的诊断和治疗会取得满意的疗效。     

先天性脐膨出合伴畸形的预后分析

目的探讨脐膨出合伴畸形的发生与预后转归情况, 以期提高脐膨出患儿生存率及生活质量。方法收集上海交通大学医学院附属新华医院2002年1月至2021年1月收治的136例脐膨出患儿的临床资料, 其中男80例, 女56例, 平均孕周为37.9周(30.0～41.0周), 平均出生体重3 123 g(1 290～4 625 g), 低体重儿19例。以脐部缺损5 cm为界, 将患儿分成巨型脐膨出(≥5 cm)和小型脐膨出(<5 cm), 其中巨型脐膨出患儿59例, 小型脐膨出患儿77例。比较分析患儿基本资料、合伴畸形、病死率及外科处理后存活患儿的生长发育、智力、脐部整形情况。数据采用SPSS 23.0软件进行统计。结果患儿总合伴畸形率为79.4%(108/136), 合伴畸形以心血管畸形(80例), 消化道畸形(64例)和泌尿系畸形(23例)为主。巨型及小型脐膨出患儿合伴畸形率分别为81.4%(48/59)和77.9%(60/77), 两者比较差异无统计学意义。136例患儿中死亡12例, 放弃治疗15例;死亡与出生体重、手术时间、环口大小及肝疝出明显相关(P<0.01)。随访患儿82例...     

脱细胞异体真皮基质补片在新生儿及小儿腹壁重建中的应用

目的探讨使用脱细胞异体真皮基质生物补片重建腹壁的方式治疗新生儿、小儿巨型脐膨出等巨大腹壁缺损病例的可行性。方法作者近期采用脱细胞异体真皮基质生物补片重建腹壁的手术方式,治疗巨型脐膨出11例,医源性巨大腹壁缺损1例,巨大腹壁疝1例,通过生物补片修补腹壁组织缺损,扩大腹腔容积,避免直接缝合关闭腹腔术后腹压急剧升高。结果11例巨型脐膨出患儿中,除1例患儿家长放弃治疗外,其余10例效果良好,随访至今,无一例发生并发症。结论新生儿及小儿巨大腹壁缺损可使用脱细胞异体真皮基质补片重建腹壁,效果良好。     

程序化包扎法、延期手术治疗巨型脐膨出的疗效分析

目的探讨新生儿期采用程序化包扎法、延期手术治疗巨型脐膨出的安全性和有效性。方法回顾性分析2016年12月至2018年7月广州市妇女儿童医疗中心收治的采用程序化包扎法,延期手术治疗的巨型脐膨出患儿临床资料。结果7例患儿出生时囊膜均无破裂,包扎期待治疗期间无囊膜感染、破裂、肠梗阻、中断包扎等并发症发生,未再次入院;囊膜达到干痂期中位数时间为5(4~5)d,囊膜完成上皮化中位数时间为65(57~68)d,家长培训时间中位数6(3~12)d,住院时间中位数21(19~29)d;7例患儿均存活,其中6例行腹壁缺损修补手术,2例术后分别需要5 h和17 h呼吸机支持,住院时间中位数9.5(7.25~10.25)d,术后均未出现伤口预后不良、切口疝等手术并发症。1例正在等待延期修补术。结论程序化包扎法、延期手术治疗巨型脐膨出的方法是安全有效的,其对巨型脐膨出远期预后的影响需进一步随访研究。     

新生儿小型脐膨出的产前诊断与手法复位治疗

目的探讨新生儿脐膨出的产前诊断特点以及手法复位的疗效。方法结合产前诊断，对8例新生儿小型脐膨出（2．5cm以下）采用手法复位治疗。结果8例均痊愈，脐带脱落后均有不同程度脐疝，在外科门诊予封脐治疗4～9周，脐疝消失后，脐部外观正常。结论对部分小型脐膨出患儿采用手法复位治疗是可行的，结合产前诊断，有利于提高手法复位疗效。     

新生儿脐膨出两中心三年临床经验总结

目的 结合文献介绍不同类型新生儿脐膨出的临床处理方法和体会.方法 总结2004年6月～2007年8月间上海交通大学附属上海儿童医学中心和新华医院收治的21例新生儿脐膨出的病例,进行回顾性分析.总结脐膨出处理中的经验和教训.对新生儿脐膨出进行分型并根据不同分型提出不同的处理意见及处理中应注意的事项.结果 21例新生儿脐膨出,治愈15例,死亡5例,因出现并发症家属放弃治疗自动出院1例.总体生存率71.4%.5例死亡原因分别为合并先心肺炎心衰1例;1例腹壁关闭后恢复良好,夜间母亲喂乳不慎窒息死亡;因肝脏嵌顿继发多脏器衰竭死亡1例;新生儿合并颅内出血死亡1例;1例弃婴入院太晚,入院后出现感染致心衰、肾衰,治疗无效死亡;15例痊愈者随访10个月～4年,生长发育良好.结论 应对新生儿脐膨出进行正确的评估和分型,提出增加易嵌顿型脐膨出,根据不同的类型和囊膜情况作出不同的处理方法,以避免处理不当造成的严重后果.     

脐膨出合并肺动脉高压的研究进展

巨型脐膨出患儿常常出生就伴有肺动脉高压, 这类患儿往往预后较差且死亡率较高。已有研究发现, 出生后2～7 d诊断的肺动脉高压是脐膨出患儿死亡率的独立预测因素。由于巨型脐膨出患儿出现肺动脉高压的病因尚不明确, 且缺乏系统的治疗方案, 本研究将参考国内外相关研究及文献, 对巨型脐膨出合并肺动脉高压的早期识别、发病机制与治疗的研究进展进行综述。     

用硅胶袋修复巨型脐膨出与腹裂13例报告

目的总结应用硅胶袋分期修复巨型脐膨出和腹裂的治疗经验。方法回顾性分析2003年以来应用硅胶袋进行分期腹壁修补术的11例患儿病例资料。其中巨型脐膨出3例，腹裂8例。均于气管插管全身麻醉下手术，将无菌硅胶袋与腹壁缺损边缘缝合成囊袋状，包裹膨出的脏器，术后逐渐挤压囊袋至内脏还纳入腹腔后去除囊袋，分层关闭腹壁缺损。脐膨出患儿行脐部成形。全部患儿术后均予呼吸机支持2-24h。结果全组患儿膨出脏器均于术后7-10d还纳入腹腔．此时腹壁无明显张力．术后无腹壁切口裂开及腹腔继发感染，伤口恢复良好，生长发育正常。结论采用无菌硅胶袋替代涤纶补片行腹壁修补术，硅胶袋与腹壁缝合后反应小，费用低，是一种安全、疗效可靠的方法。     

Gastroschisis and omphalocele: treatments and long-term outcomes

Between February 1994 and April 2004, we treated 40 children with gastroschisis and 26 children with omphalocele. We recorded the course of pregnancy, pre- and post-natal complications, delivery, operation, post-operative therapy, and long-term outcomes. Additionally, we conducted follow-up examinations of 37 of these 66 children (56%). We analysed their abdominal musculature, development, cosmetic result and quality of life. The median duration of follow-up was 6.3 years (range 1–10). In 35/40 children (88%) with gastroschisis and in 18/26 children (69%) with omphalocele, there had been prenatal diagnosis. The average maternal age of 23.9 years in the gastroschisis group was lower than in the omphalocele group (29.9 years). Delivery was by caesarean section in 93% of the gastroschisis group and 65% of the omphalocele group. Outcomes following vaginal delivery were no worse than those after caesarean section. Further, congenital abnormalities were shown in 28% of gastroschisis cases, and were limited to the gastrointestinal tract. Of the omphalocele cases 81% showed further abnormalities. Direct closure of the abdominal wall defect was possible in 31/40 (78%) of the gastroschisis cases and 15/26 (58%) of the omphalocele cases. Mortality in gastroschisis was nil; two children with omphalocele died (8%). Outcomes were better after primary closure than in stepwise reconstruction. Follow-up showed good results in all categories. Developmental delays were rapidly made up after treatment, and 75% of the children had no gastrointestinal problems, or suffered from these rarely. Almost all the children were of normal weight and height, and physical and intellectual development were delayed in only one third of the children. The surgical scar was rated as good or very good in about 80% of the cases. Except for those with severe defects, the children had good ratings for quality of life. Improvements in short-term results of gastroschisis and omphalocele treatment can be attributed to recent developments in prenatal diagnosis and the advancements of centralised perinatal care. Our long-term results clearly demonstrate that initial gastrointestinal problems and developmental delays were made up during the first two years of life. Prenatal counselling can now be more optimistic.     

An international survey of gastroschisis and omphalocele (490 cases)

Gastroschisis, exceedingly rare in 1953 [6], has increased markedly in incidence in recent years. The present international survey by questionnaire of 490 cases of gastroschisis and omphalocele from 16 pediatric surgery centers on 4 continents reveals a marked spurt in the incidence of gastroschisis in 1972 and after. The gastroschisis-to-omphalocele ratio is highest in Scandinavia, northern Europe and the United States. The mothers of gastroschisis patients were found to be significantly younger (21.6 vs 26.7 years) than omphalocele mothers (P<0.0001). Gastroschisis patients were more frequently premature by birth weight (58% vs 23%) and period of gestation (49% vs 16%). The rural-to-urban ratio of omphalocele was fairly uniform in all parts of the world reviewed, whereas that of gastroschisis varied widely from area to area with a range of 13% to 61%. Twinning and a family history of congenital disorders were more frequent in the omphalocele group. There was no evidence, from limited data of the involvement of legal drugs in the etiology of either gastroschisis or omphalocele. The data presented here suggest that omphalocele is more likely due to genetic etiology and gastroschisis more likely results from environmental (drug and pollutant) factors of fairly recent appearance. The need for a continuing and ongoing worldwide study of environmental and other factors in the etiology of both gastroschisis and omphalocele is stressed. Offprint requests to: T. C. Moore at the above address     

先天性畸形围产期处理的初步体会

目的 总结2年多来10例先天性畸形围产期管理的方法和效果。方法 对经产科B超检查拟诊为食管闭锁、右侧卵巢囊肿、左侧唇裂及右侧胸壁囊肿各1例和十二指肠闭锁、脐膨出及肾积水各2例共10例妊娠25周—39周的孕妇进行了产前咨询。并在分娩后及时转诊、手术治疗或定期随访服务。结果 10例中8例诊断正确，1例产后影像学检查与产前诊断相符，但因21—三体，家长放弃手术治疗，1例脐膨出妊娠27周时人工流产。8例中手术治疗5例(食管闭锁、十二指肠重复畸形、环状胰腺、脐膨出和唇裂)。1例胸壁淋巴管瘤穿刺注药治疗中。2例肾积水正在随访。结论 产前经B超诊断为先天性畸形的，应早期、有针对性地对家长进行有关疾病的诊断治疗、效果及预后的宣传解释。这样会有利于家长对未来子女出生后的手术治疗有思想准备，也会使孕妇心态平稳地度过妊娠中后期或及时下决心停止治疗或中止妊娠，还可明显提前转诊和治疗，有利于提高治愈率。在产前诊断先天性畸形工作中小儿外科医生可以更早地介入并发挥作用。     

危重型脐膨出

探讨影响脐膨出预后的因素,评价治疗效果。方法对３７例脐膨出婴儿进行回顾性研究和总结,危重型脐膨出２７例,其中巨大脐膨出２１例,缺损直径小于５ｃｍ者６例。结果全组治愈２６例,危重型治愈１９例,巨大脐膨出治愈１６例;一期修补２９例,治愈２５例,有呼吸机支持组治愈率为８５．７％,无呼吸机支持组治愈率为５６．２５％。     

An international survey of gastroschisis and omphalocele (490 cases)

An international survey of gastroschisis and omphalocele by questionnaire yeilded 490 cases from 16 pediatric surgery centers on four continents. Factors influencing the management outcome of 203 cases of gastroschisis and 287 cases of omphalocele in the period 1954–1977 are reviewed. In 81% of the gastroschisis cases, the defect was 3 cm or larger in diameter; in only 6% was it as dangerously small as 1 cm. In 58% of cases, only intestines were eviscerated; stomach was included in the eviscerated mass in another 36% and genitourinary organs seldom (6%) were included. In this comparatively early experience with gastroschisis, the operative mortality was 39% but varied widely by and within areas (from 10%–75%). The lowest mortality was associated with primary and skin flap closures. The use of a variety of protheses to cover the eviscerated mass was associated with a high incidence of sepsis and intestinal fistulation. There were 246 cases of non-syndrome omphalocele and 41 cases of syndrome omphalocele. In the non-syndrome omphaloceles, the defect was 2.5 cm or larger in 80% and over 5 cm in 46%. Liver was present in 91% of the large omphalocele sacs, 43% of the intermediate-size sacs and none of the small sacs. Management mortality in non-syndrome omphalocele was 37%. It was lowest in Australia, where only sac painting and primary closure were employed. In syndrome omphalocele mortality was highest (68%) in lower midline syndrome, intermediate (33%) in upper midline syndrome and lowest (0%) in Beckwith-Wiedemann syndrome. The presence of multiple and serious additional malformations was the major factor in omphalocele management mortality. The incidence of additional malformations in small (under 2.5 cm) and large (over 5 cm) omphaloceles was identical (45% vs 46%). Offprint requests to: T. C. Moore     

Accuracy and impact of prenatal diagnosis in infants with omphalocele

Background

Associated anomalies in omphalocele are common, but to which extent these anomalies are diagnosed before or after birth is less well documented.

Aim

To investigate the different types of associated anomalies, long-term survival and the extent whether these are diagnosed pre- or postnatally in children with a prenatal diagnosis of omphalocele at a single institution.

Materials and methods

Retrospective review of all pregnancies with omphalocele managed and/or born at our institution between 2006 and 2016.

Results

A total of 42 cases with prenatally diagnosed omphalocele were identified. Of those 14 (31%) decided to terminate the pregnancy (TOP). Of the remaining 28 that continued, 12 were giant omphaloceles. The overall mortality rate was 18, 25% for giant and 12% for non-giant omphaloceles. 64% had associated anomalies. Only 1/3 of these anomalies is diagnosed prenatally.

Conclusion

The rate of associated malformations that are diagnosed postnatally is high, but the majority was malformations with a minor clinical significance or impact on future health. Beckwith–Wiedemann syndrome was present only in cases of non-giant omphalocele in our cohort.

     

Significance of antenatal diagnosis of omphalocele

A comparison has been made between 16 infants with omphalocele treated between 1962 and 1975 (group A) and 22 treated between 1976 and 1989. In the latter group 11 antenatally detected cases (group C) were considered separately from the 11 cases diagnosed at birth (group B). Recent advances have reduced the mortality for neonates with omphalocele from 37.5% in group A to 18.2% in group B. However, despite antenatal diagnosis, maternal transport, and early perinatal care, a surprising increase in mortality (45%) was observed among neonates with omphalocele detected antenatally (group C). Seven cases in group C (60%) also had other lethal or potentially lethal multiple anomalies including trisomy 13 or 18, and it is probable that the high mortality in this group was a result to these associated anomalies. Before the introduction of antenatal diagnosis, most of these infants would have died before referral to a pediatric surgeon for treatment. In general, if omphalocele is an isolated lesion the prognosis for survival following postnatal surgical correction exceeds 90%; in such cases, antenatal diagnosis may potentially contribute to improved survival. However, the presence of other multiple and/or untreatable malformations in the group diagnosed antenatally is associated with a poor overall prognosis.     

Pseudoexstrophy of the bladder: a rare variant

A 15-day-old female presented with a healed omphalocele and a triangular musculoskeletal defect in the hypogastric area similar to the defect seen in classic bladder exstrophy. The bladder was normal on exploration. The defect was successfully closed using a bilateral anterior pubic ramotomy. Only ten cases of pseudoexstrophy have been reported in the world literature.