* Echography Center, Mouffia Street, 97400 Saint Denis, Reunion Island, France;
** Department of Gynecology, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France; Tel: 0262905522; Fax: 0262 907730;
*** Department of Gynecology, Felix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France;
**** Diagnostic Medical Sonographer, Translator, Editor, Novato, California.
The spectrum of fetal midline disruption syndrome is wide; it includes anomalies and congenital syndromes such as limb-body wall complex, body stalk anomaly (BSA), and pentalogy of Cantrell . Despite accumulated data on these anomalies, there is still no consensus as to one causative etiological factor. Several theories have been suggested . 2D ultrasonography remains the principal tool for diagnosis of first-trimester anomalies; however, 3D ultrasonography has use in confirming diagnosis of a variety of fetal malformations. We have found that use of 2D and 3D ultrasound together yields optimal results in diagnosis and analysis of limb-body wall complex for both care providers (obstetricians, radiologists, sonographers) and affected parents.
Two-dimensional ultrasound (2D)
Three-dimensional ultrasound (3D) Provides diagnosis; Expands and confirms diagnosis. Grayscale hard for parents to see; 3D look helps parents comprehend location and severity of fetal malformations. Medical confirmation of defects; Visual rendering of defects to develop global view for medical team and affected families.
Limb-body wall complex is a rare polymalformative syndrome with two distinct phenotypes: one form with placentocranial adhesions, and the other form with placento-abdominal adhesions [3, 4, 5, 6]. Coelosomia is found in all cases; it variably coexists with other anomalies, such as brain, vertebral, visceral and limb anomalies .
Most authorities believe that limb-body wall complex results from early rupture of the amnion sometime between the third and fifth week of embryogenesis . The prognosis for limb-body wall complex is uniformly fatal [7, 8].
With advances in ultrasonographic technique and equipment (providing increasing spatial and temporal resolution), earlier and earlier prenatal diagnosis is possible. Adjuvant usage of 2D and 3D sonography is the best means to diagnose and manage this complex. We report a case of limb-body wall complex at 12 weeks GA which was well visualized on 2D and 3D ultrasonography.
A 25-year-old patient, G3P2 without contributive history, was referred to our level-three center at 13 weeks GA because of the suspicion, on sonography at 12 weeks GA, of a significant anomaly in the lower half of the fetal body.
Detailed two-dimensional ultrasonography was performed endovaginally, showing a live fetus with a coelosomia measuring 20 x 15 mm protruding from the anterior abdominal wall (Figures 1A, 1B, 1C). The nuchal translucency was 2.9 mm (Figures 2A, 2B). The bladder was not seen, but amniotic bands were observed (Figures 3A, 3B). Three-dimensional endovaginal surface rendering clearly demonstrated an omphalocele as a solid mass protruding from the ventral wall; malpositioned lower extremities were also seen (Figure 4C).
The sensitivity of two-dimensional ultrasonography in detecting polymalformations is very high, but does not provide clearly comprehensible results for parents. Use of 3D images helps parents obtain a better understanding of fetal pathology. This is often crucial in their decision-making process. The pregnancy was terminated by curettage. Autopsy was not contributive. Postnatal investigation confirmed the diagnosis of limb-body wall complex without craniofacial defect. The karyotype was normal (46, XX).
Figure 1A, 1B, 1C:
2D transverse section through the lower part of the abdomen. A large abdominal wall defect is seen.