B Luehr1, J Lipsett, J A Quinlivan. 1. Department of Obstetrics and Gynaecology, Flinders Medical Centre, Adelaide, Australia.
Abstract
OBJECTIVE: Limb-body wall complex (LBWC) is a rare fetal polymalformation of uncertain etiology, but it has been regarded as sporadic in nature with a low recurrence risk. We review a case series in light of recent evidence about possible genetic and environmental associations. METHODS: All abortions or births coded as limb-body wall defect or fetal acrania/exencephaly or with unclassified polymalformation between January 1996 and January 2001 were audited. RESULTS: During the 5-year period there were 33,286 live births in our region. Eleven cases met the criteria of LBWC giving an incidence of 0.33/1000 live births. In 50%, 50% and 30% of women a history of cigarette, alcohol and marijuana use, respectively, was noted. Furthermore, 40% of the women had a history of a previous infant with a congenital anomaly. One patient delivered two consecutive male infants with LBWC. CONCLUSIONS: Whilst the majority of cases of LBWC are sporadic, some women may have an underlying genetic predisposition. It may be prudent to advise against the use of alcohol, cigarettes and other drugs and to offer an ultrasound scan in a tertiary referral center in a subsequent pregnancy.
OBJECTIVE: Limb-body wall complex (LBWC) is a rare fetal polymalformation of uncertain etiology, but it has been regarded as sporadic in nature with a low recurrence risk. We review a case series in light of recent evidence about possible genetic and environmental associations. METHODS: All abortions or births coded as limb-body wall defect or fetal acrania/exencephaly or with unclassified polymalformation between January 1996 and January 2001 were audited. RESULTS: During the 5-year period there were 33,286 live births in our region. Eleven cases met the criteria of LBWC giving an incidence of 0.33/1000 live births. In 50%, 50% and 30% of women a history of cigarette, alcohol and marijuana use, respectively, was noted. Furthermore, 40% of the women had a history of a previous infant with a congenital anomaly. One patient delivered two consecutive male infants with LBWC. CONCLUSIONS: Whilst the majority of cases of LBWC are sporadic, some women may have an underlying genetic predisposition. It may be prudent to advise against the use of alcohol, cigarettes and other drugs and to offer an ultrasound scan in a tertiary referral center in a subsequent pregnancy.
Authors: Elisa Aguirre-Pascual; Monica Epelman; Ann M Johnson; Nancy A Chauvin; Beverly G Coleman; Teresa Victoria Journal: Pediatr Radiol Date: 2014-06-14
Authors: Paul Kruszka; Annette Uwineza; Leon Mutesa; Ariel F Martinez; Yu Abe; Elaine H Zackai; Rebecca Ganetzky; Brian Chung; Roger E Stevenson; Robert S Adelstein; Xuefei Ma; James C Mullikin; Sung-Kook Hong; Maximilian Muenke Journal: Mol Genet Genomic Med Date: 2015-05-06 Impact factor: 2.183