Prenatal diagnosis of a skeletal deformation resulting from leiomyomata uteri

Abstract

Introduction: Leiomyomata uteri are associated with preterm labor and fetal loss, but we generally do not consider that they might cause fetal deformations. As a result, preconceptional myomectomy is not recommended as it may further impair fertility through intraperitoneal adhesion formation. Case Report: We report on a patient who presented with profuse vaginal bleeding at nineteen weeks gestation. Sonogram demonstrated placenta previa and several myomas; the largest two measuring seven and five cm. The right femur was bent at a 90° angle while the remainder of the skeletal survey was normal. Severe oligohydramnios was present, limiting internal organ visualization of the fetus In light of the heavy bleeding and oligohydramnios, the patient was informed of the poor prognosis for this pregnancy, and its risks to her, however she opted not to interrupt it. The patient continued to bleed intermittently, and then, four weeks later she bled profusely necessitating emergency hysterotomy to evacuate the uterus. A non-viable, 450gram male infant was delivered and the patient was transfused four units of packed red blood cells The patient did not initially consent to autopsy, and cell culture for karyotype was not obtained. Autopsy confirmed the presence of an acutely deformed femur, and an X-ray showed normal bone mineralization. A horseshoe kidney was the only internal malformation identified.Discussion: Deformations of the head, limbs, and thorax have been associated with uterine malformations such as bicomuate uterus, with a frequency of 30%, Reports of deformations caused by leiomyomata uteri are sparse, and this is the first prenatal report of such an event. The asymmetry of the skeletal abnormality makes it unlikely that this is syndromic, even with the horseshoe kidney, as this is usually isolated. It is possible that the oligohydramnios contributed to the constrained, deforming fetal environment. Events of this sort should be considered when counseling patients as to the risks that leiomyomata uteri may entail in pregnancy.Reference: Miller, ME, Dunn, PM. Smith, DW. Uterine malformation and fetal deformation. J Pediair 1979:94:378