RSS-Feed abonnieren
DOI: 10.1055/s-0030-1255101
© Georg Thieme Verlag KG Stuttgart · New York
Kongenitale Gastroschisis – pränatale Diagnose und perinatales Management
Congenital Gastroschisis – Prenatal Diagnosis and Perinatal ManagementPublikationsverlauf
eingereicht 15.02.2010
angenommen nach Überarbeitung 11.05.2010
Publikationsdatum:
30. August 2010 (online)
![](https://www.thieme-connect.de/media/zgn/201004/lookinside/thumbnails/10.1055-s-0030-1255101-1.jpg)
Zusammenfassung
Die Geburtsprävalenz der Gastroschisis nimmt weltweit zu. Diese Feststellung trifft gerade auf jüngere schlanke Frauen mit Nikotinkonsum zu. Auf den ersten Blick ein Paradoxon, angesichts des immer älter werdenden Schwangerenkollektives, innerhalb dessen immer weniger Raucherinnen zu finden sind. In zahlreichen Studien konnten sowohl (nutritive) Teratogene und Umwelteinflüsse als auch epidemiologische Ursachen für dieses Phänomen glaubhaft gemacht werden. Heutzutage werden bis zu 90% der Feten mit Gastroschisis pränatal erkannt. Vorteil einer pränatalen Diagnose sind u. a. die Erkennung assoziierter Störungen und die Feststellung einer high-risk-Konstellation (IUGR, intraabdominale Darmdilatation o. ,vanishing gut’). Nur so wird eine adäquate interdisziplinäre Beratung der betroffenen Eltern gemeinsam mit Geburtshelfern, Kinderchirurgen und Neonatologen möglich. Die Wirksamkeit serieller Amnionaustauschinfusionen hinsichtlich eines besseren neonatalen Outcomes konnte bislang noch nicht eindeutig geklärt werden. Die Möglichkeiten eines fetalchirurgischen Vorgehens sind limitiert und derzeit nur in experimentellen Ansätzen im Tiermodell denkbar. Aus geburtshilflicher Sicht scheinen der in utero Transport und die elektive Sectio vor der vollendeten 36. SSW in einem tertiären Zentrum mit entsprechender Logistik (Kinderchirurgie, Neonatologie) auch trotz nicht schlüssiger Datenlage derzeit die von den meisten Autoren empfohlene Vorgehensweise zu sein. Die Überlebensraten von Feten mit einer Gastroschisis nach operativer Therapie (primärer Defektverschluss, Silotechnik) sind insgesamt hoch (>90%).
Abstract
The birth prevalence of gastroschisis is increasing world-wide. This situation applies particularly to young, slim women who smoke. At a first glance this is a paradox in light of the ever-increasing age of pregnant women among whom there are fewer and fewer smokers. In numerous studies it has been clearly demonstrated that not only (nutritional) teratogenic substances and environmental factors but also epidemiological causes can be held responsible for this phenomenon. Nowadays gastroschisis is detected prenatally in up to 90% of all foetuses. Advantages of a prenatal diagnosis include the identification of associated disorders and the determination of a high-risk constellation (IUGR, intraabdominal bowel dilatation or vanishing gut). This is essential for an adequate interdisciplinary counseling for the afflicted parents together with obstetricians, paediatric surgeons and neonatalogists. The efficacy of serial amnioexchanges with regard to a better neonatal outcome has as yet not been unambiguously clarified. The possibilities for surgical procedures on the foetus are limited and can at present only be considered as experimental attempts in animal models. From an obstetrical perspective the in utero transport and elective Caesarean section before completion of the 36th week of gestation in a tertiary centre with appropriate facilities (paediatric surgery, neonatalogy) seem to be the course recommended by most authors in spite of inconclusive data. The survival rates for babies with gastroschisis after operative treatment (primary defect closure, silotechnique) are considerably high (>90%).
Schlüsselwörter
Gastroschisis - pränatal - perinatal - Ultraschall - Darm - Management
Key words
Gastroschisis - prenatal - perinatal - ultrasound - bowel - management
Literatur
- 1 Anteby EY, Sternhell K, Dicke JM. The fetus with gastroschisis managed by a trial of labor: antepartum and intrapartum complications. J Perinatol. 1999; 19 521-524
- 2 David AL, Tan A, Curry J. Gastroschisis: sonographic diagnosis, associations, management and outcome. Prenat Diagn. 2008; 28 633-644
- 3 Spitz L. A historical vignette: gastroschisis. J Pediatr Surg. 2008; 43 1396-1397
- 4 Fear W. Congenital extrusion of abdominal viscera: return: recovery. Br Med J. 1878; 2 518
- 5 Hey W. Practical observations in surgery. London: Cadell and Davis; 1803, 228
- 6 Curry JI, McKinney P, Thornton JG. et al . The aetiology of gastroschisis. BJOG. 2000; 107 1339-1346
- 7 Werler MM, Mitchell AA, Moore CA. et al . National Birth Defects Prevention Study. Is there epidemiologic evidence to support vascular disruption as a pathogenesis of gastroschisis?. Am J Med Genet A. 2009; 149A 1399-1406
- 8 Feldkamp ML, Carey JC, Sadler TW. Development of gastroschisis: review of hypotheses, a novel hypothesis and implications for research. Am J Med Genet A. 2007; 143A 639-652
- 9 Suver D, Lee SL, Shekherdimian S. et al . Left-sided gastroschisis: higher incidence of extraintestinal congenital anomalies. Am J Surg. 2008; 195 663-666
- 10 Kao HF, Liang HM, Ou CY. et al . Twin pregnancy with gastroschisis in both twins. Taiwan J Obstet Gynecol. 2007; 46 414-416
- 11 Wilson RD, Johnson MP. Congenital abdominal wall defects: an update. Fetal Diagn Ther. 2004; 19 385-398
-
12
CMO Annual Report. Gastroschisis: A growing concern. Department of Health.
2004;
- 13 Tan KB, Tan KH, Chew S. et al . Gastroschisis and omphalocele in Singapore: a 10-year series from 1993 to 2002. Singapore Med J. 2008; 49 31-36
- 14 Mastroiacovo P, Lisi A, Castilla EE. The incidence of gastroschisis: research urgently needs resources. BMJ. 2006; 332 423-424
- 15 Goldbaum G, Daling J, Milham S. Risk factors for gastroschisis. Teratology. 1990; 42 397-403
- 16 Werler MM, Sheehan JE, Mitchell AA. Association of vasoconstrictive exposures with risks of gastroschisis and small intestinal atresia. Epidemiology. 2003; 14 349-354
- 17 Rasmussen SA, Frias JL. Non-genetic risk factors for gastroschisis. Am J Med Genet C Semin Med Genet. 2008; 148C 199-212
- 18 Torfs CP, Velie EM, Oechsli FW. et al . A population-based study of gastroschisis: demographic, pregnancy, and lifestyle risk factors. Teratology. 1994; 50 44-53
- 19 Draper ES, Rankin J, Tonks AM. et al . Recreational drug use: a major risk factor for gastroschisis?. Am J Epidemiol. 2008; 167 485-491
- 20 Torfs CP, Katz EA, Bateson T. et al . Maternal medications and environmental exposures as risk factors for gastroschisis. Teratology. 1996; 54 84-92
- 21 Werler MM, Sheehan JE, Mitchell AA. Maternal medication use and risks of gastroschisis and small intestinal atresia. Am J Epidemiol. 2002; 155 26-31
- 22 Siega-Riz AM, Herring AH, Olshan AF. et al . National Birth Defects Prevention Study. The joint effects of maternal prepregnancy body mass index and age on the risk of gastroschisis. Paediatr Perinat Epidemiol. 2009; 23 51-57
- 23 Chambers CD, Chen BH, Kalla K. et al . Novel risk factor in gastroschisis: change of paternity. Am J Med Genet A. 2007; 143 653-659
- 24 Lam PK, Torfs CP, Brand RJ. A low pregnancy body mass index is a risk factor for an offspring with gastroschisis. Epidemiology. 1999; 10 717-721
- 25 Morrison JJ, Chitty LS, Peebles D. et al . Recreational drugs and fetal gastroschisis: maternal hair analysis in the periconceptional period and during pregnancy. BJOG. 2005; 112 1022-1025
- 26 Canfield MA, Honein MA, Yuskiv N. et al . National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001. Birth Defects Res A Clin Mol Teratol. 2006; 76 747-756
- 27 Heinig J, Steinhard J, Witteler R. et al . Is there a seasonal variation in the frequency of gastroschisis?. Ultraschall in Med. 2007; 28 584-586
- 28 Frimmel T, Gembruch U, Krapp M. et al . Zeitpunkt der pränatalen Diagnose bei Feten mit Gastroschisis an einem tertiären Zentrum für Pränatalmedizin [abstr]. Ultraschall in Med. 2005; 26 S1, P112
- 29 Garne E, Loane M, Dolk H. EUROCAT Working Group . Gastrointestinal malformations: impact of prenatal diagnosis on gestational age at birth. Paediatr Perinat Epidemiol. 2007; 21 370-375
- 30 Barisic I, Clementi M, Hausler M. et al . Evaluation of prenatal ultrasound diagnosis of fetal abdominal wall defects by 19 European registries. Ultrasound Obstet Gynecol. 2001; 18 309-316
- 31 Vegunta RK, Wallace LJ, Leonardi MR. et al . Perinatal management of gastroschisis: analysis of a newly established clinical pathway. J Pediatr Surg. 2005; 40 528-534
- 32 Lazebnik N, Diment S, Schwartz S. et al . AFAFP level among fetuses with gastroschisis, omphalocele, and thoraco-abdominalventral wall defects [abstr]. Am J Obstet Gynecol. 2003; 189 S1, 116
- 33 Mastroiacovo P, Lisi A, Castilla EE. et al . Gastroschisis and associated defects: an international study. Am J Med Genet A. 2007; 143A 660-671
- 34 Kunz LH, Gilbert WM, Towner DR. Increased incidence of cardiac anomalies in pregnancies complicated by gastroschisis. Am J Obstet Gynecol. 2005; 193 1248-1252
- 35 Brantberg A, Blaas HG, Salvesen KA. et al . Surveillance and outcome of fetuses with gastroschisis. Ultrasound Obstet Gynecol. 2004; 23 4-13
- 36 Haddock G, Davis CF, Raine PA. Gastroschisis in the decade of prenatal diagnosis: 1983-1993. Eur J Pediatr Surg. 1996; 6 18-22
- 37 Cohen-Overbeek TE, Hatzmann TR, Steegers EA. et al . The outcome of gastroschisis after a prenatal diagnosis or a diagnosis only at birth. Recommendations for prenatal surveillance. Eur J Obstet Gynecol Reprod Biol. 2008; 139 21-27
- 38 Molik KA, Gingalewski CA, West KW. et al . Gastroschisis: a plea for risk categorization. J Pediatr Surg. 2001; 36 51-55
- 39 Arnold MA, Chang DC, Nabaweesi R. et al . Risk stratification of 4344 patients with gastroschisis into simple and complex categories. J Pediatr Surg. 2007; 42 1520-1525
- 40 Bond SJ, Harrison MR, Filly RA. et al . Severity of intestinal damage in gastroschisis: correlation with prenatal sonographic findings. J Pediatr Surg. 1988; 23 520-525
- 41 Alsulyman OM, Monteiro H, Ouzounian JG. et al . Clinical significance of prenatal ultrasonographic intestinal dilatation in fetuses with gastroschisis. Am J Obstet Gynecol. 1996; 175 982-984
- 42 Nick AM, Bruner JP, Moses R. et al . Second trimester intra-abdominal bowel dilation in fetuses with gastroschisis predicts neonatal bowel atresia. Ultrasound Obstet Gynecol. 2006; 28 821-825
- 43 Chiriac A, Hartge D, Krapp M. et al . Intraabdominelle Darmdilatation in Feten mit Gastroschisis ist mit Darmatresie oder weiteren Darmkomplikationen assoziiert [abstr]. Z Geburtsh Neonatol. 2007; 211 S2, P012
- 44 Japaraj RP, Hockey R, Chan FY. Gastroschisis: can prenatalsonography predict neonatal outcome?. Ultrasound Obstet Gynecol. 2003; 21 329-333
- 45 Tower C, Ong SS, Ewer AK. et al . Prognosis in isolated gastroschisis with bowel dilatation: a systematic review. Arch Dis Child Fetal Neonatal Ed. 2009; 94 F268-F274
- 46 Heinig J, Müller V, Schmitz R. et al . Sonographic assessment of the extra-abdominal fetal small bowel in gastroschisis: a retrospective longitudinal study in relation to prenatal complications. Prenat Diagn. 2008; 28 109-114
- 47 Davenport M, Haugen S, Greenough A. et al . Closed gastroschisis: Antenatal and postnatal features. J Pediatr Surg. 2001; 36 1834-1837
- 48 Brantberg A, Blaas HG, Haugen SE. et al . Re: Second-trimester intra-abdominal bowel dilation in fetuses with gastroschisis predicts neonatal bowel atresia. Ultrasound Obstet Gynecol. 2006; 28 981
- 49 Houben C, Davenport M, Ade-Ajayi N. et al . Closing gastroschisis: diagnosis, management, and outcomes. J Pediatr Surg. 2009; 44 343-347
- 50 Wilhelm C, Prömpeler H, Rädecke J. et al . Außergewöhnlicher Verlauf einer fetalen Gastroschisis. Z Geburtshilfe Neonatol. 1998; 202 86-88
- 51 Langer JC, Khanna J, Caco C. et al . Prenatal diagnosis of gastroschisis: development of objective sonographic criteria for predicting outcome. Obstet Gynecol. 1993; 81 53-56
- 52 Santiago-Munoz PC, McIntire DD, Barber RG. et al . Outcomes of pregnancies with fetal gastroschisis. Obstet Gynecol. 2007; 110 663-668
- 53 Fries MH, Filly RA, Callen PW. et al . Growth retardation in prenatally diagnosed cases of gastroschisis. J Ultrasound Med. 1993; 12 583-588
- 54 Ranganath S, Durfee S, Katz D. et al . Accuracy of ultrasound to predict estimated weight in fetuses with gastroschisis [abstr]. Am J Obstet Gynecol. 2008; 199 S1, 195
- 55 Fratelli N, Papageorghiou AT, Bhide A. et al . Outcome of antenatally diagnosed abdominal wall defects. Ultrasound Obstet Gynecol. 2007; 30 266-270
- 56 Siemer J, Hilbert A, Hart N. et al . Specific weight formula for fetuses with abdominal wall defects. Ultrasound Obstet Gynecol. 2008; 31 397-400
- 57 Carroll SG, Kuo PY, Kyle PM. et al . Fetal protein loss in gastroschisis as an explanation of associated morbidity. Am J Obstet Gynecol. 2001; 184 1297-1301
- 58 Abuhamad AZ, Mari G, Cortina RM. et al . Superior mesenteric artery Doppler velocimetry and ultrasonographic assessment of fetal bowel in gastroschisis: a prospective longitudinal study. Am J Obstet Gynecol. 1997; 176 985-990
- 59 Kalache KD, Bierlich A, Hammer H. et al . Is unexplained third-trimester intrauterine death of fetuses with gastroschisis caused by umbilical cord compression due to acute extraabdominal bowel dilatation?. Prenat Diagn. 2002; 22 715-717
- 60 Graeser M, Rahimi GS, Mallmann P. et al . Intrauteriner Fruchttod bei sonografisch identifizierter Gastroschisis. Geburtsh Frauenheilk. 2007; 67 483-485
- 61 Netta DA, Wilson RD, Visintainer P. et al . Gastroschisis: growth patterns and a proposed prenatal surveillance protocol. Fetal Diagn Ther. 2007; 22 352-357
- 62 Burge DM, Ade-Ajayi N. Adverse outcome after prenatal diagnosis of gastroschisis: the role of fetal monitoring. J Pediatr Surg. 1997; 32 441-444
- 63 Salvesen KA. Fetal abdominal wall defects – easy to diagnose – and then what?. Ultrasound Obstet Gynecol. 2001; 18 301-304
- 64 Nicholls G, Upadhyaya V, Gornall P. et al . Is specialist centre delivery of gastroschisis beneficial?. Arch Dis Child. 1993; 69 71-72
- 65 Correia-Pinto J, Tavares ML, Baptista MJ. et al . Meconium dependence of bowel damage in gastroschisis. J Pediatr Surg. 2002; 37 31-35
- 66 Api A, Olguner M, Hakgüder G. et al . Intestinal damage in gastroschisis correlates with the concentration of intraamniotic meconium. J Pediatr Surg. 2001; 36 1811-1815
- 67 Ciftci AO, Tanyel FC, Bingol-Kologul M. et al . Fetal distress does not affect in utero defecation but does impair the clearance of amniotic fluid. J Pediatr Surg. 1999; 34 246-250
- 68 Nichol PF, Hayman A, Pryde PG. et al . Meconium staining of amniotic fluid correlates with intestinal peel formation in gastroschisis. Pediatr Surg Int. 2004; 20 211-214
- 69 Kanmaz T, Yagmurlu A, Aktug T. et al . The effect of amnio-allantoic fluid pH on the intestines: An experimental study in the chick embryo gastroschisis model. J Pediatr Surg. 2001; 36 1341-1345
- 70 Hakgüder G, Ates O, Olguner M. et al . Induction of fetal diuresis with intraamniotic furosemide increases the clearance of intraamniotic substances: An alternative therapy aimed at reducing intraamniotic meconium concentration. J Pediatr Surg. 2002; 37 1337-1342
- 71 Aktug T, Ucan B, Olguner M. et al . Amnio-allantoic fluid exchange for the prevention of intestinal damage in gastroschisis. III: Determination of the waste products removed by exchange. Eur J Pediatr Surg. 1998; 8 326-328
- 72 Luton D, De Lagausie P, Guibourdenche J. et al . Prognostic factors of prenatally diagnosed gastroschisis. Fetal Diagn Ther. 1997; 12 7-14
- 73 Dommergues M, Ansker Y, Aubry MC. et al . Serial Transabdominal amnioinfusion in the management of gastroschisis with severe oligohydramnios. J Pediatr Surg. 1996; 31 1297-1299
- 74 Sapin E, Mahieu D, Borgnon J. et al . Transabdominal amnioinfusion to avoid fetal demise and intestinal damage in fetuses with gastroschisis and severe oligohydramnios. J Pediatr Surg. 2000; 35 598-600
- 75 Aktug T, Demir N, Akgur FM. et al . Pretreatment of gastroschisis with transabdominal amniotic fluid exchange. Obstet Gynecol. 1998; 91 821-823
- 76 Luton D, de Lagusie P, Guibourdenche J. et al . Effect of amnioinfusion on the outcome of prenatally diagnosed gastroschisis. Fetal Diagn Ther. 1999; 14 152-155
- 77 Volumenie JL, de Lausie P, Guibourdenche J. et al . Improvement of mesenteric superior artery Doppler velocimetry by amnioinfusion in fetal gastroschisis. Prenat Diagn. 2001; 21 1171-1174
- 78 Burc L, Volumenie JL, de Lagausie P. et al . Amniotic fluid inflammatory proteins and digestive compounds profile in fetuses with gastroschisis undergoing amnioexchange. BJOG. 2004; 111 292-297
- 79 Turkota L, Hinst J, Rusnák I. et al . [Exchange amnioinfusion in conceptus with laparoschisis (first experience)]. Ceska Gynekol. 2004; 69 182-186 . Slowakisch
- 80 Midrio P, Stefanutti G, Mussap M. et al . Amnioexchange for fetuses with gastroschisis: is it effective?. J Pediatr Surg. 2007; 42 777-782
- 81 Bäuerle M, Sauer G, Buck G. et al . Intrauteriner Fruchtwasseraustausch zur Darmprotektion bei fetaler Gastroschisis [abstr]. Geburtsh Frauenheilk. 2007; 67 509
- 82 Lee HY, Shim JY, Won HS. et al . Changes in intestinal waste products during the antenatal management of gastroschisis by serial amniotic fluid exchange and infusion. Fetal Diagn Ther. 2008; 24 448-451
- 83 Kohl T, Tchatcheva K, Stressig R. et al . Is there a therapeutic role for fetoscopic surgery in the prenatal treatment of gastroschisis?. A feasibility study in sheep. Surg Endosc. 2009; 23 1499-1505
- 84 Maramreddy H, Fisher J, Slim M. et al . Delivery of gastroschisis patients before 37 weeks of gestation is associated with increased morbidities. J Pediatr Surg. 2009; 44 1360-1366
- 85 Serra A, Fitze G, Kamin G. et al . Preliminary report on elective preterm delivery at 34 weeks and primary abdominal closure for the management of gastroschisis. Eur J Pediatr Surg. 2008; 18 32-37
- 86 Logghe HL, Mason GC, Thornton JG. et al . A randomized controlled trial of elective preterm delivery of fetuses with gastroschisis. J Pediatr Surg. 2005; 40 1726-1731
- 87 Ergün O, Barksdale E, Ergün FS. et al . The timing of delivery of infants with gastroschisis influences outcome. J Pediatr Surg. 2005; 40 424-428
- 88 Huang J, Kurkchubasche AG, Carr SR. et al . Benefits of term delivery in infants with antenatally diagnosed gastroschisis. Obstet Gynecol. 2002; 100 695-699
- 89 Lenke R. Benefits of term delivery in infants with antenatally diagnosed gastroschisis. Obstet Gynecol. 2003; 101 418
- 90 Moir CR, Ramsey PS, Ogburn PL. et al . A prospective trial of elective preterm delivery for fetal gastroschisis. Am J Perinatol. 2004; 21 289-294
- 91 Boutros J, Regier M, Skarsgard ED. Canadian Pediatric Surgery Network. Is timing everything? The influence of gestational age, birth weight, route, and intent of delivery on outcome in gastroschisis. J Pediatr Surg. 2009; 44 912-917
- 92 How HY, Harris BJ, Pietrantoni M. et al . Is vaginal delivery preferable to elective cesarean delivery in fetuses with a known ventral wall defect?. Am J Obstet Gynecol. 2000; 182 1527-1534
- 93 Puligandla PS, Janvier A, Flageole H. et al . Routine caesarean delivery does not improve the outcome of infants with gastroschisis. J Pediatr Surg. 2004; 39 742-745
- 94 Vachharajani AJ, Dillon PA, Mathur AM. Outomes in neonatal gastroschisis: an institutional experience. Am J Perinatol. 2007; 24 461-465
- 95 Gelas T, Gorduza D, Devonec S. et al . Scheduled preterm delivery for gastroschisis improves postoperative outcome. Pediatr Surg Int. 2008; 24 1023-1029
- 96 Hadidi A, Subotic U, Goeppl M. et al . Early elective cesarean delivery before 36 weeks vs. late spontaneous delivery in infants with gastroschisis. J Pediatr Surg. 2008; 43 1342-1346
- 97 Zanardini C, Palai N, Magri R. et al . Abdominal wall defects: a retrospective study on neonatal outcome [abstr]. Ultrasound Obstet Gynecol. 34; S1, 244
- 98 Kaiser MM, Kahl F, von Schwabe C. et al . Omphalozele und Gastroschisis. Ergebnisse-Komplikationen-Verlauf-Lebensqualität. Chirurg. 2000; 71 1256-1262
- 99 Bianchi A, Dickson AP, Alizai NK. Elective delayed midgut reduction – no anaesthesia for gastroschisis: selection and conversion criteria. J Pediatr Surg. 2002; 37 1334-1336
- 100 Allotey J, Davenport M, Njere I. et al . Benefit of preformed silos in the management of gastroschisis. Pediatr Surg Int. 2007; 23 1065-1069
- 101 Schlatter M, Norris K, Uitvlugt N. et al . Improved outcomes in the treatment of gastroschisis using a preformed silo and delayed repair approach. J Pediatr Surg. 2003; 38 459-464
- 102 Eggink BH, Richardson CJ, Malloy MH. et al . Outcome of Gastroschisis: a 20 year case review of infants with gastroschisis. J Pediatr Surg. 2006; 41 1103-1108
- 103 Snyder CL, Miller KA, Sharp RJ. et al . Management of intestinal atresia in patients with gastroschisis. J Pediatr Surg. 2001; 36 1542-1545
Korrespondenzadresse
Dr. med. Jan Weichert
Klinik für Frauenheilkunde und
Geburtshilfe
Universitätsklinikum
Schleswig-Holstein
Campus Lübeck
Bereich Pränatalmedizin und
Spezielle Geburtshilfe
Ratzeburger Allee 160
23538 Lübeck
Telefon: +49/451/500 2149
Fax: +49/451/500 2192
eMail: jan.weichert@uk-sh.de