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Related Experiment Videos

Limb-body wall complex: a case series.

B Luehr1, J Lipsett, J A Quinlivan

  • 1Department of Obstetrics and Gynaecology, Flinders Medical Centre, Adelaide, Australia.

The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
|November 8, 2002
PubMed
Summary

Limb-body wall complex (LBWC) is a rare birth defect. While often sporadic, some cases may indicate a genetic predisposition, warranting caution with environmental factors.

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Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Teratology

Background:

  • Limb-body wall complex (LBWC) is a rare, severe congenital anomaly with uncertain origins.
  • Historically considered sporadic with low recurrence risk, recent evidence suggests potential genetic and environmental influences.

Observation:

  • A 5-year audit identified 11 cases of LBWC, yielding an incidence of 0.33 per 1000 live births.
  • Maternal history revealed significant associations with cigarette (50%), alcohol (50%), and marijuana (30%) use.
  • Forty percent of affected women had a prior infant with a congenital anomaly, and one case involved consecutive affected male infants.

Findings:

  • The study highlights that while LBWC is predominantly sporadic, a subset of cases may be linked to an underlying genetic predisposition.

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  • Environmental factors, including substance use, are noted in a substantial proportion of affected pregnancies.

    • Implications:

    • Genetic counseling and advanced prenatal ultrasound screening in tertiary centers are recommended for subsequent pregnancies.
    • Advising expectant mothers to avoid alcohol, cigarettes, and other drugs is crucial for mitigating risks associated with LBWC.