Pre-conference Educational Workshop on Birth Defects Surveillance

Pre-conference Educational Workshop on Birth Defects Surveillance

Gastrosquisis Objetivos del aprendizaje Al final de esta presentacin, los participantes podrn hacer lo siguiente: Describir las caractersticas clnicas de la gastrosquisis Entender las principales caractersticas epidemiolgicas de la gastrosquisis Aplicar consejos tiles para la codificacin y la notificacin Reconocer las diferencias entre la gastrosquisis y el onfalocele Gastrosquisis Definicin Defecto (abertura) de la pared abdominal anterior, acompaado de hernia del intestino delgado y de parte del intestino grueso, y ocasionalmente de otros rganos abdominales, hacia la cavidad amnitica, y no en el cordn umbilical. Cordn umbilical Foto cortesa de ECLAMC http://www.cdc.gov/ncbddd/birthdefects/Gastroschisis-graphic.html Gastrosquisis | 3

Etiologa de la gastrosquisis: Alteracin o malformacin? Alteracin Origen vascular: anormalidad de la arteria onfalomesentrica, que resulta en infarto y necrosis de la base del cordn umbilical con la subsecuente hernia del abdomen* Malformacin Anormalidad primaria que afecta el cierre de la pared del cuerpo: se sugiere que ocurre entre la 3.a y la 5.a semana (21 a 35 das) despus de la concepcin** *Fuente: Hoyme et al. J Pediatr, 1981 ** Fuente: Feldkamp et al. AJMG, 2007 La diferencia es relevante cuando se interpretan estudios etiolgicos Gastrosquisis | 4 Principales caractersticas clnicas La abertura es lateral al cordn umbilical (generalmente a la derecha) Los rganos herniados carecen de una membrana protectora El contenido abdominal que sale puede estar enredado y cubierto por un material fibroso grueso Caracterstica Hallazgos tpicos Malformaciones

asociadas 16.6 % (1.7 % cromosmicas)* Sndromes Extremadamente poco frecuentes * Fuente: Stoll et al 2008. Am J of Med Gen Part A 146A:1280-1285 Gastrosquisis | 5 Principales caractersticas epidemiolgicas Caracterstica Prevalencia Razones de la variabilidad en la prevalencia Hallazgos tpicos 4.4 por cada 10 000 (EE. UU.)* 2.98 por cada 10 000 (Europa)** Est aumentado en algunos pases*, **, y es ms comn en madres jvenes** Clasificacin errnea por onfalocele Diferencias en la proporcin de madres jvenes o en la prevalencia de factores

de riesgo *Fuente: Kirby RS, Marshall J, Tanner JP et al. Prevalence and Correlates of Gastroschisis in 15 States, 1995 to 2005. Obstet Gynecol. 2013 Aug;122(2, PART 1):275-281. **Fuente: Loane M, Dolk H, Morris JK; EUROCAT Working Group. Maternal age-specific risk of nonchromosomal anomalies. BJOG. 2009 Jul;116(8):1111-9. Gastrosquisis | 6 Tasas de prevalencia de la gastrosquisis Registro Cantidad Estudios iniciales Cantidad de naci- Tasa (IC del 95 %) de casos Ao mientos Estudios ms recientes Tasa (IC del 95 %) Ao Razn de notificacin proporcional (IC del 95 %) Australia

593 4 140 849 0.88 (0.42 -1.62) 1981 2.65 (2.06 - 3.35) 1997 1.08 (1.06 to 1.10) Finlandia 97 947 072 0.92 (0.33 -2.00) 1984 1.92 (0.96 - 3.44) 1998 1.11 (1.05 to 1.16)

Francia (centro este) 180 1 932 649 0.15 (0.00 -0.82) 1978 1.46 (0.82 -2.42) 1998 1.04 (1.01 to 1.06) Francia (Pars) 92 659 523 0.00 (0.00 -1.04) 1981 2.69 (1.29 to 4.95)

1998 1.11 (1.07 to 1.16) Irlanda (Dubln) 30 395 528 0.00 (0.00 -1.47) 1980 1.56 (0.30 to 4.58) 1998 1.15 (1.07 to 1.23) Japn 361 2 931 758 1.01 (0.43-2.00) 1974

2.28 (1.43 to 3.46) 1998 1.03 (1.02 to 1.05) Mxico 161 820 987 1.20 (0.38-2.81) 1980 4.93 (2.87 to 7.90) 1998 1.06 (1.03 to 1.10) Noruega 265 1 403 783 0.99 (0.36-2.17)

1974 3.07 (1.82 to 4.86) 1998 1.04 (1.02 to 1.06) Sudamrica 353 3 565 511 0.12 (0.00-0.67) 1974 2.88 (2.07 to 3.90) 1998 1.16 (1.13 to 1.18) Fuente: Gian Luca Di Tanna et al BMJ. 325(14); 2002. Gastrosquisis | 7 Gastrosquisis:

Creciente prevalencia en muchos pases Fuente: Castilla, Mastroiacovo, Orioli: Am J Med Genet C 2008;148C(3):162-79 Gastrosquisis | 8 Diagnstico Por lo general, la gastrosquisis se reconoce fcilmente por la relacin del defecto con el cordn umbilical en un examen fsico despus del parto. El diagnstico diferencial debe excluir lo siguiente: Onfalocele Complejo extremidad-pared corporal Los diagnsticos prenatales deben confirmarse despus del nacimiento Foto cortesa de Vigilancia de anomalas congnitas: Atlas de algunos defectos congnitos Gastrosquisis Gastrosquisis Defecto de extremidadpared corporal

Foto cortesa de ECLAMC | 9 Consejos para la notificacin Describir el defecto en relacin con el cordn umbilical y especificar qu rganos estn fuera del abdomen Las fotografas son tiles para el estudio y deben ser tomadas con el cordn umbilical claramente visible Describir todas las malformaciones adicionales que estuvieran presentes Indicar si se consult a un genetista clnico Gastrosquisis | 10 Codificacin de la gastrosquisis segn la CIE-10 RCPCH Cdigos de la CIE-10 relevantes y usos del RCPCH Q79 Malformaciones congnitas del sistema musculoesqueltico, no clasificadas en otra parte (evtese el uso de este cdigo general si se dispone de informacin ms especfica) Q79.3 Gastrosquisis Q79.5 Otras malformaciones congnitas de la pared abdominal (usar este cdigo SOLO cuando el diagnstico de gastrosquisis no est confirmado)

Exclusiones Gastrosquisis Q79.2 Exnfalos/onfalocele Q89.81 Complejo extremidad-pared corporal Pentaloga de Cantrell Extrofia cloacal | 11 Preguntas? Si tienen preguntas, por favor enven un mensaje de correo electrnico a [email protected] o a [email protected] Gastrosquisis 12 | Referencias Otras referencias tiles: 1. Hackshaw A, Rodeck C, Boniface S. Maternal smoking in pregnancy and birth defects: a systematic review based on 173 687 malformed cases and 11.7 million controls. Hum Reprod Update. 2011 SepOct;17(5):589-604. 2. Werler MM, Mitchell AA, Moore CA, Honein MA. Is there epidemiologic evidence to support vascular

disruption as a pathogenesis of gastroschisis? Am J Med Genet A. 2009 Jul;149A(7):1399-406. 3. Siega-Riz AM, Herring AH, Olshan AF, Smith J, Moore C; 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 Jan;23(1):51-7. 4. Stothard KJ, Tennant PW, Bell R, Rankin J. Maternal overweight and obesity and the risk of congenital anomalies: a systematic review and meta-analysis. JAMA. 2009 Feb 11;301(6):636-50. 5. Elliott L, Loomis D, Lottritz L, Slotnick RN, Oki E, Todd R. Case-control study of a gastroschisis cluster in Nevada. Arch Pediatr Adolesc Med. 2009 Nov;163(11):1000-6. 6. Draper ES, Rankin J, Tonks AM, Abrams KR, Field DJ, Clarke M, Kurinczuk JJ. Recreational drug use: a major risk factor for gastroschisis? Am J Epidemiol. 2008 Feb 15;167(4):485-91. 7. Richardson S, Browne ML, Rasmussen SA, et al. Associations between periconceptional alcohol consumption and craniosynostosis, omphalocele, and gastroschisis. Birth Defects Res A Clin Mol Teratol. 2011 Jul;91(7):623-30. Gastrosquisis

| 13 Referencias (continuacin) 8. Feldkamp ML, Reefhuis J, Kucik J et al. Case-control study of self reported genitourinary infections and risk of gastroschisis: findings from the national birth defects prevention study, 1997-2003. BMJ. 2008 Jun 1;336(7658):1420-3. 9. Mastroiacovo P. Risk factors for gastroschisis. BMJ. 2008 Jun 21;336(7658):1386-7. 10.Feldkamp ML, Meyer RE, Krikov S, Botto LD. Acetaminophen use in pregnancy and risk of birth defects: findings from the National Birth Defects Prevention Study. Obstet Gynecol. 2010 Jan;115(1):109-15. 11.Rittler M, Castilla EE, Chambers C, Lopez-Camelo JS. Risk for gastroschisis in primigravidity, length of sexual cohabitation, and change in paternity. Birth Defects Res A Clin Mol Teratol. 2007 Jun;79(6):483-7. 12.Chambers CD, Chen BH, Kalla K, Jernigan L, Jones KL. Novel risk factor in gastroschisis: change of paternity. Am J Med Genet A. 2007 Apr 1;143(7):653-9. 13.Tinker SC, Reefhuis J, Dellinger AM, Jamieson DJ. Maternal injuries during the periconceptional period and the risk of birth defects, National Birth Defects Prevention Study, 1997-2005. Paediatr Perinat Epidemiol. 2011 Sep;25(5):487-96. 14.Lupo PJ, Langlois PH, Reefhuis et al. Maternal occupational exposure to polycyclic aromatic hydrocarbons: effects on gastroschisis among offspring in the National Birth Defects Prevention Study. Environ Health Perspect. 2012 Jun;120(6):910-5. 15.Waller SA, Paul K, Peterson SE, Hitti JE. Agricultural-related chemical exposures, season of conception, and risk of gastroschisis in Washington State. Am J Obstet Gynecol. 2010 Mar;202(3):241.e1-6. 16.Mattix KD, Winchester PD, Scherer LR. Incidence of abdominal wall defects is related to surface water atrazine and nitrate levels. J Pediatr Surg. 2007 Jun;42(6):947-9. 17.Kielb C, Lin S, Herdt-Losavio M et al. Maternal periconceptional occupational exposure to pesticides and selected musculoskeletal birth defects. Int J Hyg Environ Health. 2013 Jun 20. Gastrosquisis

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