Prenatal diagnosis of a de novo interstitial deletion of chromosome 20q12 in a fetus with complex congenital heart defects, corpus callosum agenesis and intrauterine growth restriction

摘要

A 22-year-old, gravida 2, para 1 patient was referred to the hospital at 26 gestational weeks, because of fetal anomaly. The parents were non-consanguineous and healthy. The mother denied any exposure to alcohol, teratogenic agents, irradiation or infectious diseases during this pregnancy. Level II ultraso-nography at 26 gestational weeks, revealed a growth-restricted fetus with a biparietal diameter of 5.9 cm (equivalent to 23 gestational weeks), and abdominal circumference of 17.4 cm (equivalent to 23 gestational weeks), a femur length of 3.9 cm (equivalent to 23 gestational weeks), atrioventricular septal defects and corpus callosum agenesis. Genetic amniocentesis revealed an interstitial deletion of the band 20ql2, or 46,XY,del(20)(qll.2ql3.1) (Fig. 1). The parental karyotypes were normal. Despite genetic counseling of an unfavorable outcome, the parents opted to continue the pregnancy.