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.


METHODS
Retrospective case series.


METHODS
Registry from Academic Medical Center.


METHODS
Nineteen children born after ART were identified within the registry.


METHODS
Demographics of patients, type of ART, culture media, IVF parameters.


RESULTS
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.


CONCLUSIONS
Large epidemiologic studies are needed to further study the association between BWS and ART.
Chang
Aimee S
AS
Department of Obstetrics and Gynecology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Moley
Kelle H
KH
Wangler
Michael
M
Feinberg
Andrew P
AP
Debaun
Michael R
MR
D000293:Adolescent; D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000453:epidemiology* / Q000209:etiology* / Q000235:genetics; D001757:Blastomeres; D004624:Embryo Transfer / Q000706:statistics & numerical data; D005260:Female; D005307:Fertilization in Vitro / Q000706:statistics & numerical data*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010062:Ovulation Induction / Q000706:statistics & numerical data*; D010641:Phenotype; D011247:Pregnancy; D012042:Registries; D012189:Retrospective Studies; D020554:Sperm Injections, Intracytoplasmic / Q000706:statistics & numerical data