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Sirenomelia sequence: first-trimester diagnosis with both two- and three-dimensional sonography
Ana Monteagudo1, Patricia Mayberry, Andrei Rebarber
1Department of Obstetrics and Gynecology, New York University School of Medicine, New York, USA.
Summary
First-trimester ultrasound can diagnose sirenomelia, a rare congenital anomaly. Advanced imaging techniques like 3D sonography aid in early detection and characterization of this lethal condition.
Area of Science:
- Maternal-Fetal Medicine
- Diagnostic Imaging
- Medical Genetics
Background:
- Sirenomelia, a rare congenital anomaly, presents significant diagnostic challenges.
- Early identification is crucial for management and genetic counseling.
Observation:
- This study describes two cases of sirenomelia diagnosed in the first trimester.
- Two-dimensional (2D) sonography with color Doppler and three-dimensional (3D) sonography were utilized.
- Patients had histories of infertility, highlighting potential associations.
Findings:
- Key sonographic findings included size-date discrepancies, increased nuchal translucency, large intra-abdominal vessels, and a two-vessel umbilical cord.
- 3D sonography provided enhanced visualization for further characterization.
- Both cases resulted in termination of pregnancy after patient consultation with 3D imaging.
Implications:
- First-trimester diagnosis of lethal anomalies like sirenomelia is achievable with high confidence.
- A thorough, age-dependent fetal anatomic survey is essential for early detection.
- Advanced sonographic techniques improve diagnostic accuracy in complex fetal malformations.