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Original research
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing
  1. Diana Carli1,
  2. Chiara Bertola1,
  3. Simona Cardaropoli1,
  4. Valentina Pia Ciuffreda1,
  5. Marta Pieretto1,
  6. Giovanni Battista Ferrero1,2,
  7. Alessandro Mussa1
  1. 1Department of Public Health and Pediatrics, University of Torino, Torino, Italy
  2. 2Department of Clinical and Biological Sciences, University of Torino, Torino, Piemonte, Italy
  1. Correspondence to Dr Alessandro Mussa, Department of Public Health and Pediatrics, University of Torino, 10126 Torino, Italy; alessandro.mussa{at}


Background Most cases of Beckwith-Wiedemann spectrum (BWSp) are diagnosed after birth and few studies evaluated the prenatal phenotype; here, we investigate these aspects in a large series of patients with BWSp.

Methods Eighty-nine patients with BWSp recruited through the BWSp Internal Registry of the Pediatric Genetics Unit of the Regina Margherita Children’s Hospital of Torino and through the Italian Association of Patients with BWSp. Data collection was conducted through administration of a personalised questionnaire, interview to patients’ parents, review of the clinical records, including prenatal ultrasound (US) and biochemical screening tests, physical examination and review of clinical and molecular data of the patients.

Results Seventeen patients (19.1%) were conceived through assisted reproductive techniques (ART). Twinning occurred in nine pregnancies (three from ART). Pregnancy biochemical screening tests showed increased alpha-fetoprotein (1.52±0.79 multiples of median (MoM), p=0.001), uEstriol (1.37±0.38 MoM, p<0.001) and total human chorionic gonadotrophin (2.14±2.12 MoM, p=0.008) at 15–18 weeks (n=28). Morphology US scan revealed abdominal and head circumferences higher than normal (1.42±1.10 SD scores, p<0.001 and 0.54±0.88, p<0.001, respectively) with normal femur lengths. Sixty-four cases (71.9%%) had a various combination of US findings, including macrosomia (n=32), omphalocele (n=15), enlargement of abdominal organs (n=6), macroglossia (n=11), adrenal cysts/masses (n=2), nephroureteral anomalies (n=11), polyhydramnios (n=28), placental enlargement (n=2) or mesenchymal dysplasia (n=4).

Conclusion We propose a clinical scoring system for prenatal molecular investigations defining major, minor and supportive criteria among the several features often observed prenatally in BWSp.

  • DNA methylation
  • gynecology
  • obstetrics
  • pregnancy tests
  • reproductive medicine

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  • Contributors DC performed the clinical sample and data collection and revised the manuscript. CB performed data collection and patient recruitment. SC, VPC and MP made substantial contributions to acquisition of data, analysis and interpretation. GBF supervised and edited the first draft of the manuscript. AM conceived and designed the study, performed the data analysis and statistical analysis and wrote the first draft of the manuscript. All authors revised the article critically for important intellectual content and approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data availability statement All data relevant to the study are included in the article or uploaded as supplementary information. The authors confirm that the data supporting the findings of this study are available within the article and its supplementary materials.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.

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