Karyotype versus genomic hybridization for the prenatal diagnosis of chromosomal abnormalities: a metaanalysis

Saldarriaga, Wilmar; García‐Perdomo, Herney Andrés; Arango-Pineda, Johanna Carolina; Fonseca, Javier

doi:10.1016/j.ajog.2014.10.011

Cited by 40 publications

(36 citation statements)

References 25 publications

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“…Postnatally, in children with FSAs and neurodevelopmental disability, CMA has been proven to provide an additional diagnostic yield over conventional chromosomal analysis. Yields have been reported to be up to 27% compared with when performed as a prenatal test in fetuses with structural anomalies (3%‐5%) . It has been demonstrated to be a cost‐effective strategy in this instance and is now recommended in the investigation of FSAs where QF‐PCR does not detect a common aneuploidy (and costs declining with more routine use)…”

Section: Introductionmentioning

confidence: 99%

“…Yields have been reported to be up to 27% compared with when performed as a prenatal test in fetuses with structural anomalies (3%-5%). [5][6][7][8][9][10] It has been demonstrated to be a cost-effective strategy in this instance and is now recommended in the investigation of FSAs where QF-PCR does not detect a common aneuploidy (and costs declining with more routine use). 11 CMA interpretation has improved with time, and it is important to reassess the clinical utility in the United Kingdom in the more modern clinical postguideline era.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases

et al. 2019

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Objective Evaluate the diagnostic yield of prenatal submicroscopic chromosome anomalies using prenatal array comparative genomic hybridisation (aCGH). Method Prospective cohort study conducted between March 2013 and June 2017 including fetuses where an elevated nuchal translucency (NT) or structural anomaly was identified on ultrasound and common aneuploidy testing was negative. aCGH was performed using an 8‐plex oligonucleotide platform with a genome wide backbone resolution of greater than 200 kb and interpretation in line with American College of Medical Genetics guidance. Results One thousand one hundred twenty‐nine fetuses were included; 371 fetuses with an increased NT (32.9%) and 758 with a structural anomaly (67.1%). The rate of pathogenic copy number variants (CNVs) and variant of uncertain significance (VUS) was 5.9% (n = 22) and 0.5% (n = 2) in the elevated NT group and 7.3% (n = 55) and 0.8% (n = 6) in the mid‐trimester anomaly group. No pathogenic CNVs were identified in fetuses with an NT less than 4.0 mm. Multisystem and cardiac anomalies had the greatest yield of pathogenic CNV with a 22q11.2 microdeletion present in 40% (12/30). Conclusion Prenatal aCGH is a useful diagnostic tool in the investigation of fetuses with a significantly elevated NT or structural anomaly. With time and experience, rates of pathogenic CNVs have increased, and VUS have reduced, supporting the prenatal application of increasingly high resolution aCGH platforms.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases

et al. 2019

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“…Sin embargo, desde el año 2000 se publicaron estudios que muestran a la HGCm como una prueba que lograba detectar pérdidas y ganancias de DNA denominadas microdeleciones y microduplicaciones, además de las AC numéricas y estructurales que se observaban en el cariotipo. Saldarriaga et al (8) publicaron un metaanálisis que mostró que la sensibilidad de la HGCm es 94.5% y del cariotipo 67.3% en el DP de AC, con una especificidad de 99% para las dos pruebas (8); de esta forma, si en las muestras que se analizaron en este estudio se hubiera realizado HGCm, se habría aumentado de 103 resultados positivos a 145, con una frecuencia de diagnóstico de AC que pasaría de 13.95% a 19.60%. En ese mismo laboratorio no se recibió ninguna solicitud de realizar HGCm hasta la fecha de sometimiento de este artículo, mostrando que en Cali, y seguramente en Colombia, el uso de esa prueba es mínimo.…”

Section: Discussionunclassified

“…El DP de las AC se puede realizar a través de diferentes pruebas, la más utilizada es el cariotipo con tinción Giemsa que se usa desde 1971 (7); sin embargo, en los últimos 30 años se han implementado pruebas moleculares como FISH (Fluorescent in situ hybridization), QF-PCR (Quantitative fluorescent polymerase chain reaction), MLPA (Multiplex ligation-dependent probe amplification) y la hibridación genómica comparativa por micro-arreglos (HGCm), la cual ha demostrado mayor sensibilidad con igual especificidad que el cariotipo y estaría reemplazándolo en el DP de AC (8).…”

Section: Introductionunclassified

Valor predictivo positivo del diagnóstico prenatal invasivo para alteraciones cromosómicas

Fandiño-Losada¹,

Lucumí-Villegas²,

Ramírez-Cheyne³

et al. 2018

Rev. Fac. Med.

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Introducción. El diagnóstico prenatal (DP) invasivo para alteraciones cromosómicas (AC) se realiza según las indicaciones de las pruebas no invasivas y se basa en la probabilidad de encontrar un cariotipo alterado.Objetivos. Identificar las indicaciones para la realización de un procedimiento invasivo con el fin de hacer un DP de AC, calcular el valor predictivo positivo (VPP) de cada indicación y estimar la oportunidad relativa (OR) de encontrar una AC.Materiales y métodos. Estudio transversal que caracterizó las indicaciones de procedimientos invasivos para realizar cariotipos en registros de un centro de diagnóstico genético en Cali, Colombia, en el período 2013-2015.Resultados. De 738 registros de cariotipos analizados, 103 (14.0%) tuvieron AC. Las indicaciones más frecuentes fueron alteración anatómica única en ecografía del segundo trimestre (21.4%) y edad materna (18.8%). Las indicaciones con mayor VPP fueron sonolucencia nucal alterada más otro marcador ecográfico (80.0%) y antecedente de 2 o más abortos (30.8%). Las más altas OR de un cariotipo alterado también fueron la sonolucencia nucal más otro marcador ecográfico (OR=1381.6) y el antecedente de 2 o más abortos (OR=153.5).Conclusiones. La ecografía fue la principal herramienta para indicar procedimientos invasivos de DP. Los marcadores bioquímicos integrados fueron una indicación poco frecuente.

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“…The genetic etiology of MCMs is widely variable: monogenic syndromes are estimated to account for 2-10% of cases, whereas chromosomal abnormalities are found in 10-15% of liveborns with MCMs [Stevenson and Hall, 2005] and in 9-39% of fetuses with abnormal ultrasound findings, depending on the presence of a single anomaly or multiple malformations [Wilson et al, 1992;Rizzo et al, 1996;Tseng et al, 2006;Yashwanth et al, 2010;Saldarriaga et al, 2015]. Subtelomeric deletions are present in ∼ 5% of patients with multiple CMs associated with mental retardation [Koolen et al, 2004].…”

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confidence: 99%

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

Gregorio

Gai²,

Botta³

et al. 2015

Cytogenet Genome Res

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Karyotyping and aCGH are routinely used to identify genetic determinants of major congenital malformations (MCMs) in fetal deaths or terminations of pregnancy after prenatal diagnosis. Pathogenic rearrangements are found with a variable rate of 9-39% for aCGH. We collected 33 fetuses, 9 with a single MCM and 24 with MCMs involving 2-4 organ systems. aCGH revealed copy number variants in 14 out of 33 cases (42%). Eight were classified as pathogenic which account for a detection rate of 24% (8/33) considering fetuses with 1 or more MCMs and 33% (8/24) taking into account fetuses with multiple malformations only. Three of the pathogenic variants were known microdeletion syndromes (22q11.21 deletion, central chromosome 22q11.21 deletion, and TAR syndrome) and 5 were large rearrangements, adding up to >11 Mb per subject and comprising strong phenotype-related genes. One of those was a de novo complex rearrangement, and the remaining 4 duplications and 2 deletions were 130-900 kb in size, containing 1-7 genes, and were classified as variants of unknown clinical significance. Our study confirms aCGH as a powerful technique to ascertain the genetic etiology of fetal major congenital malformations.

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Karyotype versus genomic hybridization for the prenatal diagnosis of chromosomal abnormalities: a metaanalysis

Cited by 40 publications

References 25 publications

Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases

Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases

Valor predictivo positivo del diagnóstico prenatal invasivo para alteraciones cromosómicas

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

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