Journal of Assisted Reproduction and Genetics

, Volume 35, Issue 10, pp 1925–1926 | Cite as

Assisted reproduction techniques and prenatal diagnosis of Beckwith–Wiedemann spectrum presenting with omphalocele

  • Alessandro MussaEmail author
  • Diana Carli
  • Simona Cardaropoli
  • Cristina Molinatto
  • Giovanni Battista Ferrero
Letter to Editor

We read with interest the article by Johnson and colleagues [1] 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,...


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© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Neonatology and Neonatal Intensive Care Unit, Department of Gynecology and Obstetrics, Città della Salute e della Scienza di TorinoS.Anna HospitalTurinItaly
  2. 2.Department of Pediatric and Public Health SciencesUniversity of TorinoTurinItaly

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