98 documents found, page 1 of 10

Diagnóstico pré-natal: história, impacto e perspetivas futuras

Avaliação externa da qualidade do diagnóstico pré-natal de anomalias cromossómi...

Comparative analysis of hybrid‑SNP microarray and nanopore sequencing for detec...

Background: Nanopore sequencing is a technology that holds great promise for identifying all types of human genome variations, particularly structural variations. In this work, we used nanopore sequencing technology to sequence 2 human cell lines at low depth of coverage to call copy number variations (CNV), and compared the results variant by variant with chromosomal microarray (CMA) results. Results: We analy...

Report of a rare 3q29 interstitial microdeletion: prenatal diagnosis and postna...

Distal interstitial deletions in the 3q29 region are rare. The characterization of new prenatal diagnosis (PND) cases and their follow-up may add knowledge about the affected region.

Is Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microar...

Introduction: This study aimed to evaluate the occurrence of clinically relevant (sub)microscopic chromosomal aberrations in fetuses with the nuchal translucency (NT) range from 3.0 to 3.4 mm, which would be potentially missed by cfDNA testing. Methods: A retrospective data analysis of 271 fetuses with NT between 3.0 and 3.4 mm and increased first trimester combined test (CT) risk in five cohorts of pregnant wo...

Deleção intersticial 7q33q34 em fetos de gravidez gemelar monocoriónica diamnió...

Introdução: O acompanhamento de gestações gemelares pode revelar-se desafiante se houver alterações ecográficas e discrepâncias entre os fetos. Deleções intersticiais 7q, abrangendo diferentes regiões e apresentando tamanho variável, são raras, e encontram-se quase exclusivamente descritas em pós-natal. Objectivos: Apresentamos o caso de uma gestante, de 32 anos, com gravidez gemelar monocoriónica e diamniótica...

Morte súbita neonatal num recém-nascido com perturbação do desenvolvimento inte...

Introdução: A perturbação do desenvolvimento intelectual ligada ao X (PDIX) tipo Nascimento é uma síndrome genética rara caracterizada por défice intelectual, dismorfismos craniofaciais característicos e anomalias congénitas, nomeadamente defeitos cardíacos e do tracto génito-urinário. Descrição do caso: Recém-nascido do sexo masculino, admitido com 12 horas de vida na Unidade de Cuidados Intensivos Neonatais p...

Prenatal diagnosis of Beckwith Wiedemann syndrome: a case report

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 heal...

15q11.2q13.1 interstitial gain in a fetus with an increased risk for T21: When ...

Introduction: Copy number variants (CNV) of the 15q11.2q13.1 region are associated to recurrent microdeletion/microduplication syndromes in which the phenotype is dependent on the parental origin of the CNV. We report the case of a fetus from a healthy 39-year-old G6P3A2 woman, with an increased risk for trisomy 21 in the 1st trimester prenatal screening. Chromosomal microarray analysis (CMA) was requested and ...

Detection of copy number variants in the human genome: Is long-read sequencing ...

Introduction: Copy number variations (CNVs) represent ~13% of the human genome and can harbour important genes and regulatory elements. High-resolution whole genome microarray (MA) analysis is the gold standard tool for detection of CNVs associated with genetic disorders. While short-read sequencing (SRS) can address SV detection, the use of long-read sequencing as proven to overcome SRS mapping inaccuracy in h...