Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study

Graf, Michael D.; Christ, Laurie A.; Mascarello, James T.; Mowrey, Philip N.; Pettenati, MJ; Stetten, Gail; Storto, Patrick D.; Surti, Urvashi; Dyke, Daniel L. Van; Vance, Gail H.; Dj, Wolff; Schwartz, Stuart

doi:10.1136/jmg.2005.037887

Cited by 51 publications

(44 citation statements)

References 16 publications

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“…Chromosomal aberrations, existing in 20% of investigated samples, have been identified correctly by all methods in all but one case, in which fetus was diagnosed with sSMC. sSMC, which can only be seen in standard karyotyping, occurs at a rate of 0.65-1.5/1000 in prenatal diagnosis [9]. In our patient further molecular analysis revealed it to be of 22 chromosome origin.…”

Section: Discussionmentioning

confidence: 74%

Evaluation of Microfluidics-FISH method in prenatal diagnosis

et al. 2017

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Objectives: Classical cytogenetic analysis remains a gold standard in invasive prenatal diagnosis. Recently, Microfluidics--FISH, a novel method based on FISH, has been introduced. This integral approach allows to obtain result for common aneuploidies within the same day from a much smaller sample of the amniotic fluid. In this study we compare effectiveness of Microfluidics-FISH to classical karyotype and Rapid FISH.Material and methods: 52 samples of amniotic fluid were drawn from the pregnant women due to common indications. Cell cultures have been set up for classical cytogenetic analysis as well as amniotic cells have been loaded into the microchip of Microfluidics-FISH as well standard procedure of Rapid FISH was performed for evaluation of trisomy 21, 13, 18 chromosome and sex chromosomes numeric aberrations.Results: 9 samples out of 52 showed chromosomal aberrations in both FISH methods what was consistent with karyotyping. One case of small supernumerary marker chromosome was detected only in the classical cytogenetic analysis. For the majority of cases turnaround time was shortest for Microfluidics-FISH and the average volume of sample was smallest. Microfluidics-FISH proved to be reliable and cost-effective rapid testing method of common aneuploidies. Recognizing, however, limitations of methods based on FISH it cannot replace conventional karyotyping and be the sole method of diagnosis.

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Section: Discussionmentioning

confidence: 74%

Evaluation of Microfluidics-FISH method in prenatal diagnosis

et al. 2017

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“…(Figure 3) High-resolution chromosome analysis on peripheral blood revealed a 46,XX karyotype in 10%, 47,XXX in 10%, and a nonsatellited sSMC in 80% of cells. The karyotype was mos47,XXX[2]/47,XX, +mar [17]/46,XX [2]. Parental chromosome analysis showed a 46,XY[50] complement in the father and low-grade 45,X (6%) mosaicism in the mother, who was of advanced maternal age.…”

Section: Systematic Reviewmentioning

confidence: 99%

“…A ring-like SMC occurs with a frequency of 0.14-0.72/1,000 in newborns and 0.14-1.5/1,000 in prenatal diagnoses. 2 Most SMCs (70%) are derived from the short arms and pericentromeric regions of acrocentric chromosomes. Those derived from nonacrocentric autosomes are rare and occur with a frequency of ~15% of all markers.…”

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confidence: 99%

“…Without the benefit of aCGH, the empiric risk of phenotypic abnormalities associated with a prenatally detected de novo SMC is 18% if it contains satellites and 31% if it does not have satellite sequences. 2 This risk depends on a number of factors, including ultrasound findings, whether the SMC is familial, and if it is associated with a known syndrome. Certain marker chromosomes are consistently identifiable by G-banding and have a well-established phenotype.…”

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confidence: 99%

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A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

Reddy

Aradhya²,

Meck³

et al. 2013

Genetics in Medicine

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“…In general, the risk for an abnor mal phenotype in prenatally ascertained de novo cases with sSMC is considered to be ~13% [4]. This has been refined to 7% (for sSMC from chromosomes 13, 14, 21 or 22) and 28% (for all non-acrocentric autosomes) [5] and has recently been suggested to be 26-30% [1,6]. Also, BJMG 10/1 (2007) 33-37 10.2478/v10034-007-0006-5 generally speaking, sSMC transmitted by normal sSMC carriers to their progeny are not correlated with clinical problems [7], although exceptions have been described [8].…”

Section: Introductionmentioning

confidence: 99%

Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics Approach

Liehr

Trifonov²,

Polityko³

et al. 2007

Balkan Journal of Medical Genetics

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Small supernumerary marker chromosomes (sSMC) are still a major problem especially in prenatal cytogenetic diagnostics and counseling. These structurally abnormal chromosomes cannot be identified or characterized unam biguously by conventional banding cytogenetics alone, and are generally about the size of or smaller than a chromo some 20 in the same metaphase spread. We describe a straightforward algorithm, based on data from 2,211 reported cases (http://www. markerchromosomes.ag.vu) to quickly characterize the sSMC's chro mosomal origin.

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Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study

Cited by 51 publications

References 16 publications

Evaluation of Microfluidics-FISH method in prenatal diagnosis

Evaluation of Microfluidics-FISH method in prenatal diagnosis

A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity

Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics Approach

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