Assisted reproduction techniques and prenatal diagnosis of Beckwith–Wiedemann spectrum presenting with omphalocele
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We read with interest the article by Johnson and colleagues  reporting a huge increase in the odds of artificial reproductive technique (ART) pregnancies among fetuses with Beckwith–Wiedemann spectrum (BWSp) presenting with omphalocele. Their valuable report further strengthens the association between ART and imprinting disorders. However, several points deserve to be commented on.
Johnson and colleagues have observed in a large cohort of fetuses with omphalocele that 16 out of 40 (40%) were conceived through ART, compared with 8 out of 261 (3%) without a confirmed molecular diagnosis of BWSp. This data led the authors to conclude that the odds of BWSp with omphalocele in ART pregnancies are 20-fold that of natural ones, pointing out that it is the highest estimate reported so far besides the first from a prenatal series. We agree that defining the exact increase of BWSp risk after ART is burdensome and that previous studies showed remarkable differences in calculated odds/risks,...
- 1.Johnson JP, Beischel L, Schwanke C, Styren K, Crunk A, Schoof J, et al. Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome. J Assist Reprod Genet. 2018;35:985–92. https://doi.org/10.1007/s10815-018-1228-z.CrossRefGoogle Scholar