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Report of a rare 3q29 interstitial microdeletion: prenatal diagnosis and postna...
Simão, Laurentino; Pedro, Sónia; Marques, Bárbara; Serafim, Sílvia; Ferreira, Cristina; Tarelho, Ana; Brito, Filomena; Silva, Marisa; Alves, CristinaDistal 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.
Multiple non-contiguous interstitial deletions in 5q21q22.1, including the CHD1...
Marques, Bárbara; Pedro, Sónia; Serafim, Sílvia; Tarelho, Ana Rita; Ferreira, Cristina; Catanho, Joana Adelaide; Moreira, Ana; Carvalho, InêsIntellectual disability (ID), developmental delay (DD), and behavioural disorders are complex neurodevelopmental conditions associated with multifactorial etiologies, including genetic factors. Chromosomal microarray analysis (CMA) is a valuable tool in identifying copy number variations (CNVs) contributing to neurodevelopmental disorders. Here we report a 4-year-old male with DD, severe language impairment, be...
Is Nuchal Translucency of 3.0-3.4 mm an Indication for cfDNA Testing or Microar...
Rybak-Krzyszkowska, Magda; Madetko-Talowska, Anna; Szewczyk, Katarzyna; Bik-Multanowski, Mirosław; Sakowicz, Agata; Stejskal, David; Trková, MarieIntroduction: 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...
Simão, Laurentino; Marques, Bárbara; Ferreira, Cristina; Serafim, Sílvia; Alves, Cristina; Silva, Marisa; Viegas, Mónica; Peliano, RicardoIntrodução: 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...
Prenatal diagnosis of Beckwith Wiedemann syndrome: a case report
Ferreira, Cristina; Tarelho, Ana; Marques, Bárbara; Serafim, Sílvia; Pedro, Sónia; Granja, Carla; Mata, Rodrigo; Martins, Ana Teresa; Carvalho, InêsBeckwith-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 ...
Serafim, Sílvia; Pedro, Sónia; Marques, Bárbara; Tarelho, Ana; Viegas, Mónica; Simão, Laurentino; Ferreira, Cristina; Carvalho, Inês; Cohen, ÁlvaroIntroduction: 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 ...
Prenatal Diagnosis of Congenital Heart Disease IN A Fetus with A 8p23.1 Interst...
Simão, Laurentino; Marques, Bárbara; Serafim, Sílvia; Alves, Ana; Pedro, Sónia; Brito, Filomena; Ferreira, Cristina; Peliano, Ricardo; Silva, MarisaIntroduction: Congenital heart disease (CHD) is the most common form of birth defects. The incidence of CHD is about 0.8% to 1% in live-born, full-term births, and it is ten times higher in preterm infants (8.3%). The atrioventricular septum defect (AVDS) is the most common CHD detectable in utero. AVSD is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndr...
Newborn whit a derivative chromosome X and ambiguous genitalia
Simão, Laurentino; Serafim, Sílvia; Brito, Filomena; Alves, Cristina; Silva, Marisa; Peliano, Ricardo; Ferreira, Cristina; Marques, BárbaraTranslocations involving the short arms of the X and Y in human chromosomes are uncommon. One of the primary functions of the X and Y chromosomes is gender phenotype determination. Here we report a newborn female with ambiguous genitalia and abnormal X chromosome. Karyotype was performed using the standard methods and Fluorescence in situ hybridization (FISH) directed for the SRY gene was used for confirmation ...
Restrição de crescimento fetal e cromossomopatias: 5 anos de resultados de DPN ...
Simão, Laurentino; Serafim, Sílvia; Silva, Marisa; Ambrósio, Paula; Alves, Cristina; Geraldes, Maria Céu; Marques, Bárbara; Ferreira, CristinaAs anomalias do crescimento fetal são uma importante causa de morbilidade e mortalidade perinatais. Os fatores envolvidos na restrição de crescimento fetal (RCF) podem ser maternos, placentários e fetais. Nos fatores fetais, as cromossomopatias estão descritas entre 6 e 32% dos fetos com RCF. Avaliar o tipo e significado das cromossomopatias, na etiologia da RCF, e do seu valor diagnóstico em pré-natal. Avaliar...
Novas Estratégias no Diagnóstico Pré-Natal (DPN)
Serafim, Sílvia; Correia, HildebertoEnquadramento: Testes de rastreio e de diagnóstico em DPN: Testes usados durante a gravidez para determinar se um feto pode ser afetado por uma doença genética DPN permite permite: Tomada de decisão da gestação (por ex. IMG) ou Preparar estratégias específicas para o nascimento de um RN afetado.