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Clinical evaluation of isolated nonvisualized fetal gallbladder
Yifat Ochshorn1, Guy Rosner, Dalit Barel
1Lis Maternity hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Prenatal Diagnosis
|May 19, 2007
Summary
Isolated nonvisualized fetal gallbladder (INVFGB) is rare but may indicate serious conditions like cystic fibrosis (CF) or aneuploidy. Comprehensive prenatal evaluation, including genetic testing, is crucial for managing INVFGB cases.
Area of Science:
- Prenatal diagnosis
- Fetal medicine
- Medical genetics
Background:
- Isolated nonvisualized fetal gallbladder (INVFGB) is a rare prenatal finding.
- While often transient, INVFGB can be associated with significant fetal abnormalities.
- This study evaluates the clinical significance and diagnostic approach to prenatally diagnosed INVFGB.
Purpose of the Study:
- To describe the clinical evaluation of fetuses with isolated nonvisualized gallbladder.
- To identify associated abnormalities and outcomes in cases of INVFGB.
Main Methods:
- Serial ultrasound scans were used to assess nonvisualized gallbladders.
- Cases without additional malformations underwent genetic evaluation, including cystic fibrosis (CF) mutation analysis, karyotyping, and microvillar membrane enzyme (MME) analysis via amniocentesis.
- Follow-up assessments were conducted postnatally.
Main Results:
- Of 17 evaluated INVFGB cases, 3 (17.6%) had adverse outcomes: one CF, one 47,XXX aneuploidy, and one case of multiple congenital anomalies.
- Abnormal MME levels were found in 3 cases, with one diagnosed with CF.
- In two cases, the gallbladder remained undetected postnatally, but fetal development was normal.
Conclusions:
- Evaluation of INVFGB necessitates a multidisciplinary approach.
- Recommended investigations include genetic counseling, amniocentesis for karyotype and MME analysis, and CFTR mutation analysis.
- Repeated ultrasound scans are essential for monitoring fetal gallbladder development.
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