Prenatal imaging throughout gestation in Beckwith‐Wiedemann syndrome

Autor: David Zurakowski, Judy A. Estroff, Hester F. Shieh, Carol E. Barnewolt, Wen-Hann Tan, Terry L. Buchmiller
Rok vydání: 2019
Předmět:
Zdroj: Prenatal Diagnosis. 39:792-795
ISSN: 1097-0223
0197-3851
Popis: Purpose Prenatal occurrence and timing of appearance of associated features in Beckwith-Wiedemann syndrome (BWS) are unknown. We reviewed our BWS patients with serial fetal imaging and correlated these with postnatal findings. Methods All BWS patients with fetal ultrasound (US) or magnetic resonance imaging (MRI) from 2000 to 2016 were reviewed to determine the presence of polyhydramnios, placentamegaly, macrosomia, macroglossia, retrognathia, omphalocele, visceromegaly, and hemihypertrophy. These observations were correlated with postnatal findings. Data were analyzed by Mann-Whitney U test. Results Nine BWS patients underwent 42 fetal imaging studies with median of five (range of two to six) studies per patient between 13 and 35 weeks gestation. All prenatal findings were confirmed postnatally with complete concordance. All patients with omphalocele were detected early in gestation but other postnatal findings less predictably so. All omphaloceles were small, and were found significantly earlier in gestation than macrosomia (P = 0.004) and macroglossia (P = 0.012). Visceromegaly and retrognathia were less frequent, with no significant differences in median gestational age from omphalocele when prenatally identified. Conclusions In BWS, omphalocele is the most common prenatal finding and routinely observed in early gestation with 100% accuracy. Associated findings of macrosomia, macroglossia, visceromegaly, and retrognathia, when present, are detected later in gestation. Imaging in later gestation may reveal additional abnormalities that support a BWS diagnosis.
Databáze: OpenAIRE
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