Genetics and environment in embryogenesis of sirenomelia sequence: case report

Abstract

Introduction: the sirenomelia sequence is a primary defect that occurs in the mesoderm of the posterior middle axis of the embryo and turns out the fusion of the primordium of limbs in its fibular margins, with absence or complete development of the intercurrent caudal structures. Case report: a 36-year-old pregnant woman with a reproductive history of three previous pregnancies and two deliveries without abortions, who in the genetic risk assessment consultation, classified as increased genetic risk (risk of chromosomal alterations). A history of possible exposure to teratogens was collected. Multiple congenital defects were observed in the study of the fetus by means of ultrasound. Genetic counseling and reproductive options are provided in multidisciplinary team office to both members of the couple. Both gave their consent for the interruption of pregnancy. The pathological study confirmed multiple congenital anomalies. Conclusions: major congenital anomalies, that are part of the sirenomelia sequence, can be diagnosed in the prenatal stage by means of Ultrasonography Studies during the first and second trimesters of pregnancy. The definitive and classified diagnosis can be completed after the pathological study of the fetus. Genetic counseling is improved and based on the consideration of the alterations in embryogenesis with its genetic and environmental aspects; where the concluding aspects are personalized considering the pregnant woman, her family, as well as her social and personal situation.

Keywords

• ectromelia
• organogénesis
• diagnóstico prenatal
• deformidades congénitas de las extremidades