title: Limb-body wall defect: experience of a reference service of fetal medicine from Southern Brazil.
abstract: BACKGROUND
  Limb-body wall defect is a rare condition characterized by a combination of large and complex defects of the ventral thorax and abdominal wall with craniofacial and limb anomalies.
  
  
  METHODS
  The aim of this study was to describe the experience of our fetal medicine service, a reference from Southern Brazil, with prenatally diagnosed patients with a limb-body wall defect in a 3 years period. Only patients who fulfilled the criteria suggested by Hunter et al. (2011) were included in the study. Clinical data and results of radiological and cytogenetic evaluation were collected from their medical records.
  
  
  RESULTS
  Our sample was composed of 8 patients. Many of their mothers were younger than 25 years (50%) and in their first pregnancy (62.5%). It is noteworthy that one patient was referred due to suspected anencephaly and another due to a twin pregnancy with an embryonic sac. Craniofacial defects were verified in three patients (37.5%), thoracic/abdominal abnormalities in 6 (75%) and limb defects in eight (100%). Congenital heart defects were observed in five patients (62.5%). One of them presented a previously undescribed complex heart defect.
  
  
  CONCLUSIONS
  The results disclosed that complementary exams, such as MRI and echocardiography, are important to better define the observed defects. Some of them, such as congenital heart defects, may be more common than previously reported. This definition is essential for the proper management of the pregnancy and genetic counseling of the family. The birth of these children must be planned with caution and for the prognosis a long survival possibility, despite unlikely and rare, must be considered.
authors: Ginecology and Obstetrics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, RS, Brazil.
authors: Ana C
authors: AC
authors: Gazolla
authors: André C
authors: AC
authors: da Cunha
authors: Jorge A B
authors: JA
authors: Telles
authors: Rosilene da S
authors: Rda S
authors: Betat
authors: Mayara A
authors: MA
authors: Romano
authors: Isabel
authors: I
authors: Marshall
authors: Amanda M
authors: AM
authors: Gobatto
authors: Anna M
authors: AM
authors: de H Bicca
authors: Camila P
authors: CP
authors: Arcolini
authors: Thaís K V
authors: TK
authors: Dal Pai
authors: Luciane R
authors: LR
authors: Vieira
authors: Luciano V
authors: LV
authors: Targa
authors: Ildo
authors: I
authors: Betineli
authors: Paulo R G
authors: PR
authors: Zen
authors: Rafael F M
authors: RF
authors: Rosa
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology*; D001938:Brazil / Q000453:epidemiology; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000453:epidemiology*; D004452:Echocardiography / Q000379:methods; D005260:Female; D005333:Fetus; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000453:epidemiology*; D006801:Humans; D053208:Kaplan-Meier Estimate; D017880:Limb Deformities, Congenital / Q000175:diagnosis / Q000453:epidemiology*; D008279:Magnetic Resonance Imaging / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013909:Thorax / Q000002:abnormalities*
keywords: acrania; amniotic bands; congenital heart defects; limb-body wall defect; magnetic resonance imaging; survival; twin; ultrasound