Novel fetal and maternal sonographic findings in confirmed cases of Beckwith–Wiedemann syndrome

Kagan, Karl Oliver; Berg, Christoph; Dufke, Andreas; Geipel, A.; Hoopmann, Markus; Abele, Harald

doi:10.1002/pd.4555

Cited by 35 publications

(40 citation statements)

References 28 publications

(65 reference statements)

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“…Postnatal studies cite macroglossia as the most common feature of BWS with an incidence of 82% to 99%, with other common findings of macrosomia (87%), abdominal wall defects (60%‐77%), and polyhydramnios (50%‐60%) . A few small prenatal series of BWS cases cite visceromegaly in 83%, omphalocele in 30% to 67%, and macroglossia in 50% . The variability in these small case series demonstrate the wide variation in the phenotypic presentation of BWS.…”

Section: Discussionmentioning

confidence: 99%

Prenatal imaging throughout gestation in Beckwith‐Wiedemann syndrome

et al. 2019

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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.

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Section: Discussionmentioning

confidence: 99%

Prenatal imaging throughout gestation in Beckwith‐Wiedemann syndrome

et al. 2019

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“…Additional clinical features of BWS include neonatal hypoglycemia, hemihyperplasia, organomegaly (heart, liver, Table 2 Suitability of different (methylation-specific (MS)) methods for prenatal testing 34 omphalocele (detectable after the thirteenth week of pregnancy (wp)), polyhydramnios and fetal macrosomia (detectable after the nineteenth wp) ( Table 1). 35 The incidence of polyhydramnios, premature birth and fetal macrosomia in BWS has been estimated as~50% (for gene reviews, see Shuman et al 15 ). Other common features include a long umbilical cord and an enlarged placenta that averages almost twice the normal weight for gestational age.…”

Section: Clinical Findings In Bws and Srsmentioning

confidence: 99%

“…During pregnancy, preeclampsia or eclampsia may occur. 35,36 Silver-Russell syndrome SRS is characterized by intrauterine and postnatal growth restriction with a typical facial gestalt (for a review, Saal 16 ). In the majority of patients, birth weight is 2-3 s.d.…”

Section: Clinical Findings In Bws and Srsmentioning

confidence: 99%

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

et al. 2015

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15Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in 470% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; www.imprinting-disorders.eu), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.

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“…Some of the overgrowth syndromes involve pancreatic hyperplasia of the exocrine or endocrine part, which results in an increased pancreas size. A recent publication focusing on the prenatal findings of Beckwith‐Wiedemann syndrome highlights the sonographic visualization of a hyperplastic pancreas as one of these findings, assuming, maybe, that this organ is not usually demonstrable on sonography in healthy fetuses …”

Section: Discussionmentioning

confidence: 99%

“…A recent publication focusing on the prenatal findings of Beckwith-Wiedemann syndrome highlights the sonographic visualization of a hyperplastic pancreas as one of these findings, assuming, maybe, that this organ is not usually demonstrable on sonography in healthy fetuses. 11 Moreover, pregnancy complications such as maternal diabetes mellitus and impaired placental perfusion, which affect fetal growth, also affect pancreas growth, with long-term consequence regarding development of diabetes mellitus, hypertension, or cardiovascular disease (theory of Barker et al 4,12 ).…”

Section: Discussionmentioning

confidence: 99%