Limb‐body wall defect: Experience of a reference service of fetal medicine from Southern Brazil

Abstract

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.

Complex malformations involving the fetal body wall – definition and classification issues

“…The most common sonographic finding in our cohort was a ventral wall defect of variable severity. Open neural tube defects were observed in one‐third of the study group, more than reported by other authors . The defect was usually large and associated with scoliosis or partial agenesis of the vertebrae.…”

“…Because the incidence of LBWC/BSA is extremely rare, prenatal descriptions consist mostly of case reports and small series . We report the largest cohort of fetuses with body wall malformations reported up to date in the literature.…”

“…The condition is invariably lethal . Moreover, the abdominal or cranial attachment to the placenta poses a risk for uterine inversion and a severe postpartum bleeding resulting in elective cesarean section in most cases continued till term . Therefore, a termination of pregnancy is recommended, making an early diagnosis extremely important.…”

Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K ( IQCK )?

“…However, given that LBWC is almost universally lethal, especially when a ventral wall defect is present, the described case would not be considered LBWC by some experienced clinicians (Gazolla et al. ). This patient has elements of both LBWC and ABS, which is consistent with the overlap between these two syndromes; however, the medical literature has not determined whether these two conditions are separate nor has the causation of these two conditions been found.…”

“…Amniotic bands are formed from strings of ruptured amnion and are believed by some to entangle and constrict body parts causing amputation‐like or constriction disruptions; however, ABS disruptions have been found in the absence of amniotic bands and not considered for the diagnosis of LBWC (Gazolla et al. ; Hartwig et al. ; Hunter et al.…”