Zhang Minzhong,Wang Jun.Prenatal diagnosis of congenital digestive tract anomalies and assessing its clinical value[J].Journal of Clinical Pediatric Surgery,,():706-712.[doi:10.3760/cma.j.cn101785-202412069-002]
Prenatal diagnosis of congenital digestive tract anomalies and assessing its clinical value
- Keywords:
- Congenital Digestive Tract Anomaly; Intestinal Atresia; Meconium Peritonitis; Esophageal Atresia; Prenatal Diagnosis; Clinical Assessment
- Abstract:
- Congenital digestive tract anomalies are a diverse class of structural abnormalities occurring during fetal development.It not only affects the quality-of-life of neonates but also threatens their lives.With the rapid developments of such medical technologies as high-resolution ultrasoound,fetal magnetic resonance imaging and next-generation sequencing,a growing number of digestive tract anomalies may be detected and diagnosed prenatally.Timely and accurate prenatal diagnosis enables clinicians to assess the risks of fetal digestive tract anomalies and examine various risk factors of fetal wellbeing.It seriously affects important organ functions and cause serious short/long-term complications.Appropriate measures of multidisciplinary treatments should be adopted for eliminating risks and improving outcomes.The examples of congenital intestinal atresia,meconium peritonitis and long-gap esophageal atresia were selected as case studies for illustrating comprehensively the techniques of prenatal diagnosis and clinical management of congenital digestive tract anomalies,aiming to provide reference for clinicians and promote further research and development in this field.
References:
[1] Lato K,Poellmann M,Knippel AJ,et al.Fetal gastroschisis:a comparison of second vs.third-trimester bowel dilatation for predicting bowel atresia and neonatal outcomes[J].Ultraschall Med,2013,34(2):157-161.DOI:10.1055/s-0031-1281753.
[2] Lakhoo K.Fetal counselling for surgical conditions[J].Early Hum Dev,2012,88(1):9-13.DOI:10.1016/j.earlhumdev.2011.11.004.
[3] Lap CC,Voskuilen CS,Pistorius LR,et al.Reference curves for the normal fetal small bowel and colon diameters; their usefulness in fetuses with suspected dilated bowel[J].J Matern Fetal Neonatal Med,2020,33(4):633-638.DOI:10.1080/14767058.2018.1498837.
[4] Engwall-Gill AJ,Zhou AL,Penikis AB,et al.Prenatal sonography in suspected proximal gastrointestinal obstructions:diagnostic accuracy and neonatal outcomes[J].J Pediatr Surg,2023,58(6):1090-1094.DOI:10.1016/j.jpedsurg.2023.02.029.
[5] Laird A,Shekleton P,Nataraja RM,et al.Incidence of gastro-intestinal anomalies and surgical outcome of fetuses diagnosed with echogenic bowel and bowel dilatation[J].Prenat Diagn,2019,39(12):1115-1119.DOI:10.1002/pd.5552.
[6] Virgone C,D’antonio F,Khalil A,et al.Accuracy of prenatal ultrasound in detecting jejunal and ileal atresia:systematic review and meta-analysis[J].Ultrasound Obstet Gynecol,2015,45(5):523-529.DOI:10.1002/uog.14651.
[7] John R,D’Antonio F,Khalil A,et al.Diagnostic accuracy of prenatal ultrasound in identifying jejunal and ileal atresia[J].Fetal Diagn Ther,2015,38(2):142-146.DOI:10.1159/000368603.
[8] Tonni G,Grisolia G,Granese R,et al.Prenatal diagnosis of gastric and small bowel atresia:a case series and review of the literature[J].J Matern Fetal Neonatal Med,2016,29(17):2753-2761.DOI:10.3109/14767058.2015.1107902.
[9] Jiang Y,Wang WP,Pan WH,et al.Study of correlation between fetal bowel dilation and congenital gastrointestinal malformation[J].Children (Basel),2024,11(6):670.DOI:10.3390/children11060670.
[10] 周立霞,卜静英,耿左军,等.胎儿肠梗阻的MRI诊断[J].磁共振成像,2017,8(2):125-130.DOI:10.12015/issn.1674-8034.2017.02.010. Zhou LX,Bu JY,Geng ZJ,et al.MRI diagnosis of fetal intestinal obstruction[J].Chin J Magn Reson Imaging,2017,8(2):125-130.DOI:10.12015/issn.1674-8034.2017.02.010.
[11] Rubio EI,Blask AR,Badillo AT,et al.Prenatal magnetic resonance and ultrasonographic findings in small-bowel obstruction:imaging clues and postnatal outcomes[J].Pediatr Radiol,2017,47(4):411-421.DOI:10.1007/s00247-016-3770-0.
[12] Lau PE,Cruz S,Cassady CI,et al.Prenatal diagnosis and outcome of fetal gastrointestinal obstruction[J].J Pediatr Surg,2017,52(5):722-725.DOI:10.1016/j.jpedsurg.2017.01.028.
[13] Ping LM,Rajadurai VS,Saffari SE,et al.Meconium peritonitis:correlation of antenatal diagnosis and postnatal outcome-an institutional experience over 10 years[J].Fetal Diagn Ther,2017,42(1):57-62.DOI:10.1159/000449380.
[14] Shinar S,Agrawal S,Ryu M,et al.Fetal meconium peritonitis-prenatal findings and postnatal outcome:a case series,systematic review,and meta-analysis[J].Ultraschall Med,2022,43(2):194-203.DOI:10.1055/a-1194-4363.
[15] Li MM,Lu CX,Wang Q,et al.Does prenatal diagnosis of meconium peritonitis have the better recovery? A single-center over 10 years of experience[J].Pediatr Surg Int,2024,40(1):94.DOI:10.1007/s00383-024-05682-4.
[16] He F,Yin Y,Huang L,et al.Using prenatal MRI to define features of meconium peritonitis:an overall outcome[J].Clin Radiol,2018,73(2):135-140.DOI:10.1016/j.crad.2017.08.006.
[17] 祝菁,杨祖菁,王磊,等.胎粪性腹膜炎的产前诊断特点和预后[J].中华围产医学杂志,2016,19(6):432-435.DOI:10.3760/cma.j.issn.1007-9408.2016.06.008. Zhu J,Yang ZJ,Wang L,et al.Prenatal diagnosis and fetal outcomes of meconium peritonitis[J].Chin J Perinat Med,2016,19(6):432-435.DOI:10.3760/cma.j.issn.1007-9408.2016.06.008.
[18] Pardy C,D’Antonio F,Khalil A,et al.Prenatal detection of esophageal atresia:a systematic review and meta-analysis[J].Acta Obstet Gynecol Scand,2019,98(6):689-699.DOI:10.1111/aogs.13536.
[19] Arntzen T,Mikkelsen A,Emblem R,et al.Prenatal diagnosis of esophageal atresia-performance and consequences[J].J Pediatr Surg,2023,58(11):2075-2080.DOI:10.1016/j.jpedsurg.2023.05.015.
[20] Stringer MD,McKenna KM,Goldstein RB,et al.Prenatal diagnosis of esophageal atresia[J].J Pediatr Surg,1995,30(9):1258-1263.DOI:10.1016/0022-3468(95)90480-8.
[21] 唐雪珍,李鸿恩,陈丹,等.产前超声及胎儿磁共振对先天性食管闭锁的诊断价值[J].中国临床医学影像杂志,2021,32(1):29-32.DOI:10.12117/jccmi.2021.01.007. Tang XZ,Li HE,Chen D,et al.Diagnostic value of prenatal ultrasound and MRI in congenital esophageal atresia[J].J Chin Clin Med Imaging,2021,32(1):29-32.DOI:10.12117/jccmi.2021.01.007.
[22] Spaggiari E,Faure G,Rousseau V,et al.Performance of prenatal diagnosis in esophageal atresia[J].Prenat Diagn,2015,35(9):888-893.DOI:10.1002/pd.4630.
[23] Rohanizadegan M,Tracy S,Galarreta CI,et al.Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia[J].Am J Med Genet A,2020,182(8):1890-1895.DOI:10.1002/ajmg.a.61639.
[24] 孙苏娜,潘伟华,邬文杰,等.食管内牵引延长治疗长段缺失型食管闭锁[J].中华小儿外科杂志,2018,39(4):246-249.DOI:10.3760/cma.j.issn.0253-3006.2018.04.002. Sun SN,Pan WH,Wu WJ,et al.Efficacy of delayed internal traction for long gap esophageal atresia[J].Chin J Pediatr Surg,2018,39(4):246-249.DOI:10.3760/cma.j.issn.0253-3006.2018.04.002.
[25] Sfeir R,Michaud L,Salleron J,et al.Epidemiology of esophageal atresia[J].Diseases of the Esophagus,2013,26(4):354-355.DOI:10.1111/dote.12051.
[26] 安鹏,王瑜,刘伟超,等.Ⅰ型和Ⅲb型食管闭锁的产前MRI与超声特征[J].中国医学影像学杂志,2019,27(12):958-960.DOI:10.3969/j.issn.1005-5185.2019.12.019. An P,Wang Y,Liu WC,et al.Prenatal MRI and ultrasound features of type I and type IIIb esophageal atresia[J].Chin J Med Imaging,2019,27(12):958-960.DOI:10.3969/j.issn.1005-5185.2019.12.019.
[27] 沈淳,郑珊.结构畸形胎儿的医学干预与思考[J].临床小儿外科杂志,2022,21(9):811-814.DOI:10.3760/cma.j.cn101785-202205017-003. Shen C,Zheng S.Understandings of medical interventions for fetal malformations[J].J Clin Ped Sur,2022,21(9):811-814.DOI:10.3760/cma.j.cn101785-202205017-003.
[28] 中华医学会小儿外科学分会新生儿外科学组.《常见胎儿结构畸形产前咨询儿外科专家共识》解读[J].临床小儿外科杂志,2022,21(9):805-810.DOI:10.3760/cma.j.cn101785-202205077-002. Group of Neonatal Surgery,Branch of Pediatric Surgery,Chinese Medical Association:Interpretations of Pediatric Surgical Expert Consensus on Prenatal Consulting of Common Fetal Structural Malformations[J].J Clin Ped Sur,2022,21(9):805-810.DOI:10.3760/cma.j.cn101785-202205077-002.
[29] 马立霜,刘超,冯众.先天性结构畸形产前产后一体化诊断与治疗模式[J].临床小儿外科杂志,2023,22(8):701-705.DOI:10.3760/cma.j.cn101785-202307029-001. Ma LS,Liu C,Feng Z.Integrated prenatal and postnatal managements of congenital structural malformations[J].J Clin Ped Sur,2023,22(8):701-705.DOI:10.3760/cma.j.cn101785-202307029-001.
[30] Bishop JC,McCormick B,Johnson CT,et al.The double bubble sign:duodenal atresia and associated genetic etiologies[J].Fetal Diagn Ther,2020,47(2):98-103.DOI:10.1159/000500471.
[31] Choudhry MS,Rahman N,Boyd P,et al.Duodenal atresia:associated anomalies,prenatal diagnosis and outcome[J].Pediatr Surg Int,2009,25(8):727-730.DOI:10.1007/s00383-009-2406-y.
[32] Escobar MA,Ladd AP,Grosfeld JL,et al.Duodenal atresia and stenosis:long-term follow-up over 30 years[J].J Pediatr Surg,2004,39(6):867-871.DOI:10.1016/j.jpedsurg.2004.02.025.
[33] Dirkes K,Crombleholme TM,Craigo SD,et al.The natural history of meconium peritonitis diagnosed in utero[J].J Pediatr Surg,1995,30(7):979-982.DOI:10.1016/0022-3468(95)90325-9.
[34] Lin YS,Yeh CC,Chang WH,et al.Perspective of Taiwan’s experience in the management of meconium peritonitis[J].Taiwan J Obstet Gynecol,2017,56(5):709-710.DOI:10.1016/j.tjog.2017.08.024.
[35] Shyu MK,Shih JC,Lee CN,et al.Correlation of prenatal ultrasound and postnatal outcome in meconium peritonitis[J].Fetal Diagn Ther,2003,18(4):255-261.DOI:10.1159/000070806.
[36] Uchida K,Koike Y,Matsushita K,et al.Meconium peritonitis:prenatal diagnosis of a rare entity and postnatal management[J].Intractable Rare Dis Res,2015,4(2):93-97.DOI:10.5582/irdr.2015.01011.
[37] Lazow SP,Ben-Ishay O,Aribindi VK,et al.Predictors of index admission mortality and morbidity in contemporary esophageal atresia patients[J].J Pediatr Surg,2020,55(11):2322-2328.DOI:10.1016/j.jpedsurg.2020.02.005.
[38] Garabedian C,Sfeir R,Langlois C,et al.Does prenatal diagnosis modify neonatal treatment and early outcome of children with esophageal atresia?[J].Am J Obstet Gynecol,2015,212(3):340.e1-340.e7.DOI:10.1016/j.ajog.2014.09.030.
Memo
收稿日期:2024-12-31。
基金项目:申康临床三年行动计划疑难疾病诊治攻关项目(SHDC2020CR2063B);上海交通大学医学院儿科学院食管闭锁临床研究中心(ELYZX 202202);上海市科技创新行动计划生物医药科技支撑专项(22S31904200);上海市卫生健康委员会卫生行业临床研究专项(20234Y0053)
通讯作者:王俊,Email:jwangjl@126.com