Evidence for and Against Associations between ART and Congenital Malformation Syndromes

Beckwith-Wiedemann syndrome (BWS) is a congenital disorder associated with various findings, including macrosomia, macroglossia, midline abdominal defects, and a predisposition to embryonal cancer (MIM 130650). Genetic mutations [1] and a loss of imprinting (LOI) of a group of imprinted genes occurring on 11p15 are involved with BWS [2]. The epigenetic changes include aberrant methylation and

imprinting of LIT1 occurring in 42% of patients (MIM 604115) [1,3]; H19 in 11% of patients (MIM 103280) [1]; or a combination of these two in 13% of patients in the setting of uniparental disomy (75%) or in conjunction with an extensive imprinting disturbance throughout 11p (25%) [1].