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Prenatal diagnosis of limb-body wall complex
H Negishi1, M Yaegashi, E H Kato
1Department of Obstetrics and Gynecology, Hokkaido University School of Medicine, Sapporo, Japan.
The Journal of Reproductive Medicine
|September 28, 1998
Summary
Prenatal diagnosis of limb-body wall complex (LBWC) is achievable via ultrasonography. Key indicators include abdominoschisis, scoliosis, limb abnormalities, single umbilical artery, and short umbilical cord.
Area of Science:
- Medical Imaging
- Prenatal Medicine
- Medical Genetics
Background:
- Limb-body wall complex (LBWC) is a rare and severe congenital anomaly.
- Accurate prenatal diagnosis is crucial for management and counseling.
Purpose of the Study:
- To evaluate the effectiveness of ultrasonography in diagnosing limb-body wall complex (LBWC).
- To identify key ultrasonographic markers for LBWC.
Main Methods:
- Retrospective review of eight cases diagnosed with LBWC via ultrasonography.
- Comparison of ultrasonographic findings with autopsy results.
- Assessment of diagnostic criteria including exencephaly, facial clefts, thoracoschisis, abdominoschisis, and limb defects.
Main Results:
- Ultrasonography diagnosed characteristic LBWC abnormalities at an average of 21.7 weeks gestation.
- Abdominoschisis, scoliosis, and lower extremity abnormalities were present in all cases.
- Associated findings included a single umbilical artery (87.5%) and short umbilical cord (87.5%).
- Elevated maternal serum alpha-fetoprotein (MSAFP) was noted in four cases.
Conclusions:
- Ultrasonography is effective for prenatal diagnosis of LBWC.
- Key ultrasonographic findings for LBWC diagnosis include abdominoschisis, scoliosis, limb abnormalities, single umbilical artery, and short umbilical cord.
- Elevated MSAFP levels can also suggest LBWC.