Diagnóstico Prenatal Ecográfico y Citogenético de un feto con anomalía en anillo del cromosoma 13 y demostración por Fetoscopía

Introduction: The ring chromosome is a structural abnormality resulting from the loss of the distal portions of both arms and joining the ends to form a ring set. Ring chromosomes are uncommon and the prenatal diagnosis of such, is particularly unusual. It has been reported that the ring chromosome 13 show relatively constant and mainly associated with the deletion of the long arm. The usually consist of dysmorphic craniofacial anomalies, ocular, sternal agenesis, heart disease, digestive abnormalities, genitourinary, vertebral and limb, mental retardation and intrauterine growth. We present a female fetus of 32 weeks of gestation, who performed cytogenetic prenatal diagnosis of a ring chromosome 13 by fetoscopy showed the characteristic lesions of the injury. Case report: A review in the department of high-risk pregnancy to a woman 36 years old in his 3rd quest. With adequate prenatal care. Fetal movements were detected from the third month of pregnancy, prenatal ultrasound was performed reported as normal, but in the sixth month of gestation, ultrasound detected polyhydramnios control with hydrops fetalis, severe heart malformation (single ventricle), pleural effusion bilateral, microcephaly, depressed nasal bridge, ankylosis of upper limbs and intrauterine growth retardation severe. Amniocentesis was performed evacuated and taken sample for cytogenetic studies. Karyotype in amniocytes were performed with GTG banding techCepeda GJR, Ambriz LR, De La Fuente CBE, De La Rosa ARM, Arteaga AMG, Gonzalez DZ, Carmona MJG, Alvarez MC, Velazquez GG, Arroyo SR, Rodriguez HE, Montemayor GNG