Abstract
Body stalk anomaly (BSA) and amniotic band syndrome (ABS) are rare similar fetal sporadic polymalformative syndromes of unknown etiology, though there are certain differences between them. BSA is a combination of developmental abnormalities involving neural tube, body wall, and the limbs with persistent extra embryonic coelomic cavity. ABS is characterized by the presence of thin membrane-like strands attached to fetal body parts and causing constrictions and amputations. This is a cohort study involving 32,100 patients who were referred for routine antenatal ultrasound scan. The data was entered prospectively into a computer database. The duration of study was 3 years. In our study, ultrasound examination in 86 patients demonstrated ventral wall defects, craniofacial defects, and spinal and limb deformities as isolated or combined abnormalities. In those, 10 patients were suspected/diagnosed as BSA/ABS including a twin of a dichorionic diamniotic gestation. The typical features of body stalk anomaly can be detected by ultrasound by the end of the first trimester, which is important for the patient counselling and management. We are presenting these rare conditions and highlighting the importance of early sonographic imaging in diagnosing and differentiating them from other anterior abdominal wall defects.
Highlights
Body stalk anomaly (BSA) results from the breakdown of ectodermal placode involving the early embryonic folding process
In those, isolated defects were observed as follows: 22 cases of anterior abdominal wall defects, 18 cases of acrania/anencephaly, 24 cases of kyphoscoliotic deformity with and without myelomeningocele, and 12 cases of limb deformities and multiple defects were seen in 10 patients suspected/diagnosed as BSA/amniotic band syndrome (ABS)
This study is based on those 10 cases and differentiating them from the other abnormalities
Summary
BSA results from the breakdown of ectodermal placode involving the early embryonic folding process. Incidence ranges traditionally in literature as one in 14,000–22,000 pregnancies [2, 3]. The incidence at birth is much lesser and is about 11/428,599 births [6] or about 0.2-0.3 per 10,000 births [7, 8]. It has a normal karyotype but body stalk anomaly may be associated with placental trisomy 16 or maternal uniparental disomy 16 [9]. There is no correlation with parents’ age or fetal gender [1, 10]
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