Association between Beckwith-Wiedemann syndrome and assisted reproductive technology: A case series of 19 patients

Objective: An association between assisted reproductive technique (ART) and specific imprinting mutations, such as Beckwith-Wiedemann syndrome (BWS), has recently been documented. Based on experiments in farm animals that demonstrated an association between alterations in culture media during ART and large offspring syndrome, we hypothesized that the culture media could be implicated as a common factor among the children with BWS conceived after ART. Design: Retrospective case series. Setting: Registry from Academic Medical Center. Patient(s): Nineteen children born after ART were identified within the registry. Main Outcome Measure(s): Demographics of patients, type of ART, culture media, IVF parameters. Result(s): Twelve of the 19 medical records from the reproductive endocrine centers were successfully obtained. Ten of 12 mothers of children with BWS had IVF, but no single, consistent culture media was used in this group. Half of the patients underwent IVF with intracytoplasmic sperm injection (ICSI; n = 5), whereas the other half had routine IVF. One child was conceived through clomiphene citrate (CC) stimulation and artificial insemination, whereas another patient conceived through gonadotropin stimulation with intrauterine insemination (IUI). The gonadotropin dosage and quantity of embryos transferred also varied significantly. The only consistent finding was that all 12 women received some type of ovarian stimulation medication. Conclusion(s): Large epidemiologic studies are needed to further study the association between BWS and ART.