Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics

Mary, Laura; Loget, Philippe; Odent, Sylvie; Aussel, Dominique; Bouar, G. Le; Launay, Erika; Henry, Cathérine; Belaud‐Rotureau, Marc‐Antoine; Jaillard, Sylvie

doi:10.1159/000514592

Cited by 3 publications

(2 citation statements)

References 30 publications

(41 reference statements)

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“…FISH analysis, especially for the diagnosis of complex chromosome abnormalities, has set up a bridge between chromosome banding technology and molecular genetics [ 18 ]. Additionally, previous studies have demonstrated that FISH analysis can identify low-level mosaicism [ 19 ] and mosaicism for chromosomal rearrangement undetected by molecular cytogenetics [ 20 ]. Correspondingly, the combination of G-banding and FISH provides an efficient method for prenatal and postnatal chromosomal analysis [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies

Wang

Yin

et al. 2022

Genetics Research

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Objective. The current study aimed to compare the characteristics of chromosome abnormalities detected by conventional G-banding karyotyping, chromosome microarray analysis (CMA), or fluorescence in situ hybridization (FISH)/CNVplex analysis and further explore the application value of combined karyotype analysis and CMA in prenatal diagnosis with a larger sample size. Methods. From March 2019 to March 2021, 3710 amniocentesis samples were retrospectively collected from women who accepted prenatal diagnosis at 16 to 22 + 6 weeks of pregnancy. The pregnant women underwent karyotype analysis and CMA. In the case of fetal chromosomal mosaicism, FISH or CNVplex analysis was utilized for validation. Results. In total, 3710 G-banding karyotype results and CMA results from invasive prenatal diagnosis were collected. Of these, 201 (5.41%) fetuses with an abnormal karyotype were observed. The CMA analysis showed that the abnormality rate was 9.14% (340/3710). The detection rate of CMA combined with karyotype analysis was 0.35% higher than that of CMA alone and 4.08% higher than that of karyotyping alone. Additionally, 12 cases had abnormal karyotype analysis, despite normal CMA results. To further detect the chromosome mosaicism, we used FISH analysis to correct the karyotype results of case 1. Correspondingly, a total of 157 cases showed abnormal CMA results but normal karyotype analysis. We also found chromosomal mosaicism in 4 cases using CMA. Moreover, CNVplex and CMA demonstrated that representative case 15 was mosaicism for trisomy 2. Conclusions. Conventional G-banding karyotyping and CMA have their own advantages and limitations. A combination of karyotype analysis and CMA can increase the detection rate of chromosome abnormalities and make up for the limitation of signal detection.

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Section: Discussionmentioning

confidence: 99%

Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies

Wang

Yin

et al. 2022

Genetics Research

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“…Even if NAHR is prone to generating tandem duplications, rarer anomalies can be dismissed using FISH (inserted duplication, cryptic translocation etc.). Moreover, FISH performs better than CMA in detecting low rates of mosaicism (Mary et al 2021), which is of importance for genetic counselling. Finally, FISH is a targeted analysis and avoids incidental, nondesirable genomic imbalance findings among apparently healthy parents.…”

Section: Shedding Light On Phenotypical Variabilitymentioning

confidence: 99%

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases

Mary

Lavillaureix²,

Perrot³

et al. 2022

European Journal of Medical Genetics

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The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling—A Narrative Review

Militaru,

Babliuc,

Bloaje-Florică

et al. 2024

JPM

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Genetic disorders represent a high-impact diagnosis for both patients and their families. Prenatal screening methods and, when recommended, genetic testing allow parents to make informed decisions about the course a pregnancy is going to take. Although offering certainty about the potential evolution and prognosis of the pregnancy, and then the newborn, is usually not possible, genetic counseling can offer valuable insights into genetic disorders. Chromosomal mosaicisms are genetic anomalies that affect only some cell lines in either the fetus or the placenta or both. They can affect autosomal or heterosomal chromosomes, and they can be either numerical or structural. The prognosis seems to be more severe if the genetic alterations are accompanied by malformations visible in ultrasounds. Several genetic techniques can be used to diagnose certain mosaicisms, depending on their nature. A novel approach in prenatal care is non-invasive prenatal screening (NIPS), also known as non-invasive prenatal testing (NIPT), which, although it does not always have diagnostic value, can provide valuable information about potential genetic anomalies, especially numerical, with high sensitivity (Se).

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Multicolor-FISH Characterization of a Prenatal Mosaicism for a Chromosomal Rearrangement Undetected by Molecular Cytogenetics

Cited by 3 publications

References 30 publications

Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies

Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies

Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases

The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling—A Narrative Review

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