P153. Alive term-delivered newborn with body stalk anomaly – case report

Karolina Panek-Laszczyńska (PL), Alicja Polak (PL), Anna Mazur-Buława (PL), Kamila Dudziak (PL), Anna Janusz (PL)

[Panek-Laszczyńska] Research and Development Center, Regional Specialized Hospital, Wroclaw, Poland, [Polak] Research and Development Center, Regional Specialized Hospital, Wroclaw, Poland, [Mazur-Buława] Research and Development Center, Regional Specialized Hospital, Wroclaw, Poland, [Dudziak] Research and Development Center, Regional Specialized Hospital, Wroclaw, Poland, [Janusz] Research and Development Center, Regional Specialized Hospital, Wroclaw, Poland

CONTEXT Body stalk anomaly (BSA) is a rare congenital syndrome linked with defective abdominal wall with abdominal organs in a sac, outside the abdominal cavity covered by amnion adherent to the placenta with absence or severe shortness of the umbilical cord. It’s expected to be lethal in nature. There is no consensus about the etiology of BSA. Various hypotheses proposed to explain the pathogenesis of limb body wall complex include early amnion disruptions, embryonic dysplasia and vascular disruption in early pregnancy. We present a rare case of alive term-delivered newborn with BSA from genetic burdened mother. OBJECTIVE In our case the mother had genetical burden. This work aims to give more information if BSA can be inherited. METHODS AND PATIENTS We analyse a case of alive child born with BSA who survived 3 hours after delivery. INTERVENTIONS The gravida was admitted to the Ob & Gyn Department of Regional Hospital In Wrocław (POLAND) in 39th week because of pregnancy induced hypertension [PIH] and abdomen pruritus with the diagnosis of BSA based on 1st trimester ultrasound. In her history were 3 early miscarriages. She had translocation of 21st and 22nd chromosome, drainage of buttock abscess in 3rd trimester. The pregnancy was achived by ART. She denied any addictions or environmental exposure . Laboratory tests were normal. She was qualified for cesarean section because of maternal and fetus indications (PIH, transverse position). There was necessity to extend the low uterotomy in classical matter because there was no possibility of delivering the child for it’s gastro and thoracoschisis. MAIN OUTCOME MEASURES The examination of the newborn confirmed multiple anomalies: severe kyphoscoliosis, chest deformation, heart hyperthrophy, patent foramen ovale , huge gastroschisis and myelocele, exstrophic urinary bladder, left leg was absent, right leg was rotaded and translocated to the back. The umbilical cord was about 3 cm long. The genital organs (masculine) and anus were normal. Those defects confirmed BSA. The newborn had single heart beats (about 20/min) and died 3 hours after delivery. The mother was dismissed after 2 days. The postoperative period was uneventful. RESULTS Cytogenetic study of the newborn revealed that it’s cariotype was 46 XY. After 2 years this couple have delivered a healthy son. CONCLUSIONS In this case there was no evident genetic reason for BSA.