Publication
Prenatal diagnosis of Beckwith Wiedemann syndrome: a case report
| dc.contributor.author | Ferreira, Cristina | |
| dc.contributor.author | Tarelho, Ana | |
| dc.contributor.author | Marques, Bárbara | |
| dc.contributor.author | Serafim, Sílvia | |
| dc.contributor.author | Pedro, Sónia | |
| dc.contributor.author | Granja, Carla | |
| dc.contributor.author | Mata, Rodrigo | |
| dc.contributor.author | Martins, Ana Teresa | |
| dc.contributor.author | Carvalho, Inês | |
| dc.contributor.author | Correia, Hildeberto | |
| dc.date.accessioned | 2024-01-12T11:55:28Z | |
| dc.date.available | 2024-01-12T11:55:28Z | |
| dc.date.issued | 2023-07-01 | |
| dc.description.abstract | Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth disease. Phenotypically and genetically heterogeneous, it is linked with epigenetic/genetic aberrations on 11p15.4p15.5 chromosome region and the majority of cases are diagnosed after birth with prenatal diagnosis being difficult and depending on the identification of specific ultrasound (US) anomalies. Here we present a case of a fetus from a healthy 21-year-old primiparous woman, with a low risk in the first trimester aneuploidy screening and bilaterally increase in renal volume detected in the second trimester US. An amniotic fluid (AF) sample was collected at 24 weeks. Rapid aneuploidy diagnosis by QF-PCR and sequencing of a multigene panel for renal dysplasia were performed with a normal result for common aneuploidies and detection of a variant with uncertain significance, respectively. The pregnant was referred to a differentiated prenatal diagnosis center and a detailed US at 30 weeks and 3 days showed multiple features suggestive of BWS: macroglossia, weight estimation at P100, significantly enlarged kidneys without corticomedullary differentiation, hepatomegaly, prenasal and cervical subcutaneous thickening, and suspected cardiomegaly without structural heart disease. The methylation pattern study of 11p15 region by MS-MLPA revealed hypermethylation of H19/GF2: IG differentially methylated region (DMR), confirming the Beckwith-Wiedemann diagnosis. In contrast to postnatal cases that can be diagnosed by phenotypic scoring, prenatal diagnosis of BWS is relatively challenging because some common features cannot be detected by US and other features appear only after 30 weeks of gestation and may be missed on second-trimester morphological ultrasound. Omphalocele is the most common prenatal phenotypic BWS-associated feature, and is the first and most easily identified in prenatal screening, but there are other features that may suggest BWS such as macroglosia, macrosomia, placental mesenchymal dysplasia, polyhydramnios, and visceromegaly. Routine molecular testing of all fetuses with one or more prenatal BWS-associated features is of utmost importance, as early diagnosis is significantly beneficial for prenatal counselling, perinatal management allowing for better birth planning and postnatal care for neonatal hypoglycemia, respiratory distress, and risk of malignancy. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/8892 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Beckwith Wiedemann Syndrome | pt_PT |
| dc.subject | Prenatal Diagnosis | pt_PT |
| dc.subject | 11 patUPD | pt_PT |
| dc.subject | Doença Genéticas | pt_PT |
| dc.title | Prenatal diagnosis of Beckwith Wiedemann syndrome: a case report | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Montpellier, France | pt_PT |
| oaire.citation.title | 14th European Cytogenomics Conference, 1-4 July 2023 | pt_PT |
| rcaap.rights | restrictedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |