RT Journal Article
SR Electronic
T1 Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 842
OP 849
DO 10.1136/jmedgenet-2020-107311
VO 58
IS 12
A1 Diana Carli
A1 Chiara Bertola
A1 Simona Cardaropoli
A1 Valentina Pia Ciuffreda
A1 Marta Pieretto
A1 Giovanni Battista Ferrero
A1 Alessandro Mussa
YR 2021
UL http://jmg.bmj.com/content/58/12/842.abstract
AB 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.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.