Body stalk anomaly in a monochorionic-diamniotic twin pregnancy - case report and review of the literature

Rom J Morphol Embryol. 2017;58(4):1453-1460.

Abstract

Body stalk anomaly (BSA) is a rare abdominal defect, generally considered to be lethal. Reported prevalence ranges from 0.4 to 3.2 per 100 000 live births. An early prenatal diagnosis offers the possibility of parental counseling and the termination of pregnancy. Also called limb-body wall complex, the anomaly is characterized by finding the intrathoracic and abdominal organs outside the cavity comprised by amnio-peritoneal membrane attached directly to the placenta and the umbilical cord short or absent. We report a case of BSA in a monochorionic-diamniotic twin pregnancy, diagnosed antenatal by the massive midline thoraco-abdominal wall defect, severe scoliosis and absent umbilical cord, presented at fetal ultrasound first trimester examination; portions of the heart, kidney and lung were contained into the placenta. The second fetus was echographically normal. At 18 weeks of gestation, a recommended amniocentesis exam was performed, an abnormal karyotype being excluded through this method. At 33 weeks of gestation, the patient presented with spontaneous preterm rupture of membranes. Delivery occurred by emergency Caesarean section for acute fetal distress; extracted first live fetus was admitted in the neonatal intensive care; the second live fetus with a severe thoraco-abdominal wall defect, fragments of organs included into the placental mass and severe reduction defect of the inferior right limb, deceased at 30 minutes from delivery. The fetus together with the placenta has been sent for histopathological exam. Clinical examination confirmed the diagnosis suspected by ultrasound examination. There are only a few reports in the literature about BSA in multiple gestations, and fewer about twin pregnancies in which only one fetus was affected by this condition.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Female
  • Humans
  • Pregnancy
  • Pregnancy, Twin
  • Prenatal Diagnosis
  • Spine / abnormalities*
  • Ultrasonography, Prenatal / methods*