Case Report: Diagnosis and Management of Body Stalk Anomaly

Abstract

Background: Body stalk anomaly is a rare and severe malformation syndrome , occurring only 1 of 10.000 live births. The patholphysiology and trigger factor of body stalk anomaly are still unknown and characterized by : abdominal wall defects, thoracoo and abdominochisis, Severe kyphoscoliosis, a truncated or absent umbilical cord, and limb irregularities are characteristic features of body stalk anomaly. Potential factors contributing to this condition encompass early amnion rupture due to direct mechanical pressure or the presence of amniotic bands, vascular disruption in the early embryo, or an abnormality in the germinal disk.Early antenatal diagnosis is crucial for patient management despide the low life expectancy, and cooperative teamwork is needed to investigation the abdnormalities encountered at birth. the chromosomal testing is performed for congemital anomaly investigation. Case Presentation: We describe a case of body stalk anomaly that was identified through antenatal ultrasound evaluation during the initial visit. The findings were confirmed during the fetomaternal ultrasound examination, the finding were as follows : a single live fetus in utero in transverse lie position, absent amniotic fluid, scoliosis of the vertebrae, an abdominal wall defect, visceral organs (liver and intestines) protruding from the defect. The patient underwent elective caesarean section due to the tranverse lie positionof the fetus and severe oligohydramnios. The baby was born weigh in 2700 grams, measuring 30 cm in length, and with apgar score of 1/1. The observed congenital anomaly include : the placental adhering to the fetal abdomen, absence of an umbilical, visceral organs ( liver, spleen, small intestine, and large intestine ) protruding from a large abdominal wall defect. Both upper limbs are normal , the right lower limb has short femur with tibia and fibula, four toes and a band from the right foot to the pelvis. The left limb is not formed, with low set ears, placental thicketing, a singke umbilical artery, and undeveloped anus. Conclusion: Ultrasound examination is primary diagnostic tool to detect Body Stalk Anomaly ( BSA) ,with ultrasound , doctors can visualize the internal structure of the fetus and conditions intra uterine. Diagnosis of chromosomal abnormalities in fetus is one of most important challrnge in perinatology.