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Body stalk anomaly diagnosed in the 2nd trimester
George Daskalakis1, Athanasios Pilalis, Demetrios Papadopoulos
11st Department of Obstetrics and Gynaecology, Alexandra Hospital, University of Athens, Athens, Greece.
Fetal Diagnosis and Therapy
|August 13, 2003
Summary
Ultrasound revealed a rare body stalk anomaly in a 21-week fetus, characterized by severe deformities and organ herniation. This diagnosis led to the difficult decision to terminate the pregnancy.
Area of Science:
- Medical Imaging
- Fetal Medicine
- Congenital Anomalies
Background:
- Routine anomaly scans during pregnancy are crucial for detecting fetal abnormalities.
- Body stalk anomaly is a rare and severe congenital condition affecting fetal development.
Observation:
- Ultrasound at 21 weeks gestation identified significant fetal deformities.
- Abnormal positioning of fetal body parts (upper in amniotic, lower in celomic cavity) was noted.
Findings:
- A large abdominal wall defect with liver and intestinal herniation was present.
- Deformed limbs, severe spinal kyphoscoliosis, and a short umbilical cord were observed.
- These ultrasonographic findings were highly suggestive of body stalk anomaly.
Implications:
- Accurate prenatal diagnosis of body stalk anomaly is critical for management decisions.
- The case highlights the importance of detailed ultrasound examination for identifying complex congenital defects.
- Genetic counseling and ethical considerations are paramount when discussing termination of pregnancy for severe fetal anomalies.