Journal of Clinical Pediatrics >
Diagnosis and treatment of fetal congenital malformation
Received date: 2022-10-09
Online published: 2023-02-16
Congenital malformation is one of the main causes of death and congenital disability in infants and children, which seriously affects the survival and life quality of children. With the remarkable development of prenatal diagnostic techniques, such as medical imaging, clinical genetics, and molecular biology, more and more fetal congenital malformations can be screened and diagnosed during pregnancy. Some fetal congenital malformations deteriorate rapidly in utero, and there is a lack of effective treatment after birth, so the prognosis is poor. Intrauterine fetal therapy can prevent the irreversible damage or death caused by the deterioration of congenital malformation and create conditions for postpartum treatment. Accurate diagnosis and evaluation of congenital malformations, effective prevention and early intervention are expected to reduce mortality and improve the prognosis and the quality of life. In this paper, the development of diagnosis and treatment of intrauterine fetal congenital malformations, the concept of clinical diagnosis and treatment of intrauterine fetal structural malformations and the clinical application of common intrauterine fetal structural malformations will be elaborated in order to provide reference for clinical work.
Key words: congenital malformation; birth defect; fetal; surgery
Jun WANG . Diagnosis and treatment of fetal congenital malformation[J]. Journal of Clinical Pediatrics, 2023 , 41(1) : 11 -17 . DOI: 10.12372/jcp.2023.22e1345
[1] | Chung SH, Kim CY, Lee BS. Congenital anomalies in very-low-birth-weight infants: a nationwide cohort study[J]. Neonatology, 2020, 117(5): 584-591. |
[2] | Pitt MJ, Morris JK. European trends in mortality in children with congenital anomalies: 2000-2015[J]. Birth Defects Res, 2021, 113(12): 958-967. |
[3] | Mai CT, Isenburg JL, Canfield MA, et al. National population‐based estimates for major birth defects, 2010-2014[J]. Birth Defects Res, 2019, 111(18):1420-1435. |
[4] | 中华人民共和国卫生部.中国出生缺陷防治报告(2012) [EB/OL]. [2022-10-09]. http://www.gov.cn/gzdt/att/att/site1/20120912/1c6f6506c7f811bacf9301.pdf. |
[5] | Luks FI. New and/or improved aspects of fetal surgery[J]. Prenat Diagn, 2011, 31(3): 252-258. |
[6] | Baumgarten HD, Flake AW. Fetal surgery[J]. Pediatr Clin North Am, 2019, 66(2): 295-308. |
[7] | Jancelewicz T, Harrison MR. A history of fetal surgery[J]. Clin Perinatol, 2009, 36(2): 227-236. |
[8] | Harrison MR, Golbus MS, Filly RA, et al. Management of the fetus with congenital hydronephrosis[J]. J Pediatr Surg, 1982, 17(6): 728-742. |
[9] | Partridge EA, Flake AW. Maternal-fetal surgery for structural malformations[J]. Best Pract Res Clin Obstet Gynaecol, 2012, 26(5): 669-682. |
[10] | Watanabe M, Flake AW. Fetal surgery: progress and perspectives[J]. Adv Pediatr, 2010, 57(1): 353-372. |
[11] | 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. |
[12] | Marine MB, Forbes-Amrhein MM. Magnetic resonance imaging of the fetal gastrointestinal system[J]. Pediatr Radiol, 2020, 50(13): 1895-1906. |
[13] | 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. |
[14] | Catania VD, Taddei A, Pellegrino M, et al. Hyperechogenic bowel: etiologies, management, and outcome according to gestational age at diagnosis in 279 consecutive cases in a single center[J]. Eur J Pediatr Surg, 2017, 27(1): 109-115. |
[15] | Catania VD, Muru A, Pellegrino M, et al. Isolated fetal ascites, neonatal outcome in 51 cases observed in a tertiary referral center[J]. Eur J Pediatr Surg, 2017, 27(1): 102-108. |
[16] | Orgul G, Soyer T, Yurdakok M, et al. Evaluation of pre- and postnatally diagnosed gastrointestinal tract obstructions[J]. J Matern Fetal Neonatal Med, 2019, 32(19): 3215-3220. |
[17] | 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. |
[18] | Lato K, Poellmann M, Knippel A, et al. Fetal gastroschisis: a comparison of second vs. third-trimester bowel dilatation for predicting bowel atresia and neonatal outcomes[J]. Ultraschall Med, 2011, 34(2): 157-161. |
[19] | 王伟鹏, 潘伟华, 王俊. 先天性膈疝患儿围产期预后风险评估的研究进展[J]. 临床小儿外科杂志, 2019, 18(11): 977-983. |
[20] | Gallot D, Boda C, Ughetto S, et al. Prenatal detection and outcome of congenital diaphragmatic hernia: a French registry-based study[J]. Ultrasound Obstet Gynecol, 2007, 29(3): 276-283. |
[21] | Bendixen C, Brosens E, Chung WK. Genetic diagnostic strategies and counseling for families affected by congenital diaphragmatic hernia[J]. Eur J Pediatr Surg, 2021, 31(6):,472-481. |
[22] | Kosinski P, Wielgos M. Congenital diaphragmatic hernia: pathogenesis, prenatal diagnosis and management - literature review[J]. Ginekol Pol, 2017, 88(1): 24-30. |
[23] | Senat MV, Bouchghoul H, Stirnemann J, et al. Prognosis of isolated congenital diaphragmatic hernia using lung‐area‐to‐head‐circumference ratio: variability across centers in a national perinatal network[J]. Ultrasound Obstet Gynecol, 2017, 51(2): 208-213. |
[24] | Cordier AG, Jani JC, Cannie MM, et al. Stomach position in prediction of survival in left-sided congenital diaphragmatic hernia with or without fetoscopic endoluminal tracheal occlusion[J]. Ultrasound Obstet Gynecol, 2015, 46(2): 155-161. |
[25] | Russo FM, Cordier A, Basurto D, et al. Fetoscopic endoluminal tracheal occlusion reverses the natural history of right‐sided congenital diaphragmatic hernia: a European multicenter experience[J]. Ultrasound Obstet Gynecol, 2021, 57(3): 378-385. |
[26] | Wang X, Shi Q, Pan W, et al. Mediastinal shift angle in fetal mri is associated with prognosis, severity, and cardiac underdevelopment in left congenital diaphragmatic hernia[J]. Front Pediatr, 2022, 10: 907724.. |
[27] | 王伟鹏, 潘伟华, 陈杰, 等. 疝囊对先天性膈疝患儿临床结局的影响[J]. 中华小儿外科杂志, 2019, 40(3):212-215. |
[28] | Wang W, Pan W, Wang J, et al. Predictive value of gestational age at diagnosis for outcomes in prenatally diagnosed congenital diaphragmatic hernia[J]. J Matern Fetal Neonatal Med, 2021, 34(14): 2317-2322. |
[29] | Deprest J, Gratacos E, Nicolaides KH, et al. Fetoscopic tracheal occlusion (FETO) for severe congenital diaphragmatic hernia: evolution of a technique and preliminary results[J]. Ultrasound Obstet Gynecol, 2004, 24(2): 121-126. |
[30] | Ruano R, Yoshisaki CT, da Silva MM, et al. A randomized controlled trial of fetal endoscopic tracheal occlusion versus postnatal management of severe isolated congenital diaphragmatic hernia[J]. Ultrasound Obstet Gynecol, 2012, 39(1): 20-27. |
[31] | Jani JC, Nicolaides KH, Gratacos E, et al. Severe diaphragmatic hernia treated by fetal endoscopic tracheal occlusion[J]. Ultrasound Obstet Gynecol, 2009, 34(3): 304-310. |
[32] | Ruano R, Peiro JL, da Silva MM, et al. Early fetoscopic tracheal occlusion for extremely severe pulmonary hypoplasia in isolated congenital diaphragmatic hernia: preliminary results[J]. Ultrasound Obstet Gynecol, 2013, 42(1): 70-76. |
[33] | Ruano R, da Silva MM, Campos JA, et al. Fetal pulmonary response after fetoscopic tracheal occlusion for severe isolated congenital diaphragmatic hernia[J]. Obstet Gynecol, 2012, 119(1): 93-101. |
[34] | Deprest JA, Nicolaides KH, Benachi A, et al. Randomized trial of fetal surgery for severe left diaphragmatic hernia[J]. N Engl J Med, 2021, 385(2): 107-118. |
[35] | Deprest JA, Benachi A, Gratacos E, et al. Randomized trial of fetal surgery for moderate left diaphragmatic hernia[J]. N Engl J Med, 2021, 385(2): 119-129. |
[36] | Basurto D, Sananès N, Bleeser T, et al. Safety and efficacy of the smart tracheal occlusion device in the diaphragmatic hernia lamb model[J]. Ultrasound Obstet Gynecol, 2021, 57(1): 105-112. |
[37] | Campiglio CE, Villonio M, Dellacà RL, et al. An injectable, degradable hydrogel plug for tracheal occlusion in congenital diaphragmatic hernia (CDH)[J]. Mater Sci Eng C Mater Biol Appl, 2019, 99: 430-439. |
[38] | Perrone EE, Deprest JA. Fetal endoscopic tracheal occlusion for congenital diaphragmatic hernia: a narrative review of the history, current practice, and future directions[J]. Transl Pediatr, 2021, 10(5): 1448-1460. |
[39] | Style CC, Olutoye OO, Belfort MA, et al. Fetal endoscopic tracheal occlusion reduces pulmonary hypertension in severe congenital diaphragmatic hernia[J]. Ultrasound Obstet Gynecol, 2019, 54(6): 752-758. |
[40] | Lally KP, Engle W. Postdischarge follow-up of infants with congenital diaphragmatic hernia[J]. Pediatrics, 2008, 121(3): 627-632. |
[41] | 王伟鹏, 王俊, 潘伟华, 等. 先天性膈疝患儿术后生长发育评估[J]. 中华小儿外科杂志, 2020, 41(5): 426-430. |
[42] | 王伟鹏, 谢伟, 刘全华, 等. 先天性膈疝术后肺功能转归的临床研究[J]. 中华小儿外科杂志, 2020, 41(1):29-33. |
[43] | Kitagawa H, Pringle KC. Fetal surgery: a critical review[J]. Pediatr Surg Int, 2017, 33(4): 421-33. |
[44] | 中华医学会小儿外科学分会普胸外科学组, 中国医疗保健国际交流促进会妇儿医疗保健分会. 先天性肺气道畸形诊疗中国专家共识(2021版)[J]. 中华小儿外科杂志, 2021, 42(8): 679-687. |
[45] | Kunisaki SM. Narrative review of congenital lung lesions[J]. Transl Pediatr, 2021, 10(5): 1418-1431. |
[46] | Loh KC, Jelin E, Hirose S, et al. Microcystic congenital pulmonary airway malformation with hydrops fetalis: steroids vs open fetal resection[J]. J Pediatr Surg, 2012, 47(1): 36-39. |
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