Resumen

GARCIA, Marisol; HERRERA, Adrian; DIAZ, Mardorys  y  RACHADEL, Emerson. Antenatal Diagnosis of Beckwith-Wiedemann Syndrome. Salus [online]. 2012, vol.16, n.2, pp.47-52. ISSN 1316-7138.

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by macroglossia, abdominal wall defect, macrosomia and organomegaly, which has been associated with increased risk of embryonal tumors and hypoglycemia. BWS is caused by an alteration in the regulation of genomic imprinting. The definitive diagnosis is usually made in the postnatal period; however, it can now be diagnosed in the prenatal stage through biochemical, genetic and ultrasound tests that detect the characteristic features of this syndrome. A case in which a SBW diagnosis was made during pregnancy is being described, after observing omphalocele in the second quarter of pregnancy, and macroglossia and macrosomia in the third quarter. This allowed adequate prenatal counseling to parents, planning of birth and of the required neonatal care, as well as timely resolution of complications. At 6 months of age the child presented a neurofibrosarcoma in the right scapula which was also promptly resolved. Perinatal ultrasound performed during the first and second trimester can detect changes that make possible prenatal diagnosis of BWS and, consequently, an adequate maternal-fetal and neonatal care for a better perinatal outcome with minimal involvement of normal development.

Palabras clave : Beckwith-Wiedemann syndrome; omphalocele; macroglossia; macrosomi.

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