임신 12주에 진단된 합지체 기형(sirenomelia) 1예

Abstract

Sirenomelia, characterised by a complete or incomplete fusion of the lower extremities, is a severe form of caudal defect affecting 1.5-4.2 in 100,000 births. Most cases of sirenomelia die within 5days after birth and are associated with abnormalities such as renal agenesis, urinary tract agenesis, single umbilical artery, etc. Third trimester ultrasonographic diagnosis is usually impaired by severe oligohydramnios whereas the amount of amniotic fluid may be sufficient to allow diagnosis in the early second trimester. We report a case of sirenomelius at 12 weeks of gestation using prenatal transvaginal ultrasonography.