Publicação
Prenatal Diagnosis in a Fetus with Fetal Growth Restriction and a 4-Copy Gain in the 15q11.2q13.1 Region
| dc.contributor.author | Simão, Laurentino R. | |
| dc.contributor.author | Marques, Bárbara S. | |
| dc.contributor.author | Pedro, Sónia I. | |
| dc.contributor.author | Serafim, Sílvia S. | |
| dc.contributor.author | Alves, Ana C. | |
| dc.contributor.author | Tarelho, Ana R. | |
| dc.contributor.author | Ferreira, Cristina M. | |
| dc.contributor.author | Silva, Marisa D. | |
| dc.contributor.author | Peliano, Ricardo C. | |
| dc.contributor.author | Oliveira, Nayara D. | |
| dc.contributor.author | Brito, Filomena T. | |
| dc.contributor.author | Viegas, Mónica D. | |
| dc.contributor.author | Carvalho, Inês S. | |
| dc.contributor.author | Bernardeco, Joana S. | |
| dc.contributor.author | Cohen, Álvaro E. | |
| dc.contributor.author | Correia, Hildeberto O. | |
| dc.date.accessioned | 2026-03-04T13:08:10Z | |
| dc.date.available | 2026-03-04T13:08:10Z | |
| dc.date.issued | 2025-11 | |
| dc.description | Abstract disponível em: Sociedade Portuguesa de Genética Humana. Livro de Resumos. 29. Annual Meeting; 2025 Nov 20-22; Coimbra, Portugal. p.138. | |
| dc.description.abstract | Fetal growth restriction (FGR) is a common ultrasound finding in pregnancy that can result from maternal, fetal, placental, environmental factors, or their interaction, and its diagnosis is based on ultrasound screening. This finding is associated with a significant increase in perinatal morbidity and mortality. On the other hand, copy number variants (CNV) in the 15q11.2q13.1 region are associated with recurrent microdeletion/microduplication syndromes, in which the phenotype depends on the parental origin of the CNV. Here we report on a foetus from a healthy 32-year-old woman with early RCF in prenatal screening. A chromosomal microarray analysis (CMA) was requested, revealing a pathogenic gain of 4 copies, with 5.77 Mb, corresponding to the justacentromeric region 15q11.2q13.1. The karyotype was established as mos 47,XX,+mar dn[40]/46,XX[28]. As the outcome of this CNV depended on the parental origin of the affected allele, MS-MLPA was performed, which showed that it was inherited maternally. The detected CNV is a recurrent known microduplication witch phenotype is dependent on the parental origin of the duplication. When it has maternally origin it has a severe outcome with hypotonia, cognitive deficit, language delay, behavioral disorders, seizures, among others. If the CNV has paternal origin, although some patients might show developmental delays and behavioral disturbances, most cases are rarely symptomatic. In prenatal diagnosis, few cases have been described in the literature, with intrauterine growth restriction being one of the ultrasound abnormalities reported when the abnormality is of maternal origin. This case reinforces the importance of the combined use of cytogenetic and molecular cytogenetic technologies, such as karyotyping, MS-MLPA, and CMA, which play a key role in identifying the origins and genetic makeup of sSMC, which would contribute significantly to genetic counselling in prenatal diagnosis. | eng |
| dc.identifier.uri | http://hdl.handle.net/10400.18/11118 | |
| dc.language.iso | eng | |
| dc.peerreviewed | yes | |
| dc.relation.hasversion | https://spgh.net/wp-content/uploads/2014/04/liv_resumos_spgh25-1.pdf | |
| dc.rights.uri | N/A | |
| dc.subject | CMA | |
| dc.subject | Prenatal Diagnosis | |
| dc.subject | 15Q11.2Q13.1 Region | |
| dc.subject | Doenças Genéticas | |
| dc.title | Prenatal Diagnosis in a Fetus with Fetal Growth Restriction and a 4-Copy Gain in the 15q11.2q13.1 Region | eng |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferenceDate | 2025-11-20 | |
| oaire.citation.conferencePlace | Coimbra, Portugal | |
| oaire.citation.title | 29th Annual Meeting of the Portuguese Society of Human Genetics (SPGH), 20-22 novembro 2025 | |
| oaire.version | http://purl.org/coar/version/c_970fb48d4fbd8a85 |