Prevalence of aneuploidies in products of spontaneous abortion: Interest of FISH and MLPA

Haoud, Khadidja; Mellali, Sarah; Gouas, Laëtitia; Tchirkov, Andréï; Vago, Philippe; Moulessehoul, Soraya

doi:10.1016/j.morpho.2014.02.001

Cited by 12 publications

(19 citation statements)

References 30 publications

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“…To date, most, if not all of these techniques are not cost‐effective and thus may not be suitable for an initial, rapid screening. Other techniques including FISH and MLPA have also been incorporated in recent studies . However, FISH usually targets chromosomes 18, 21, 22, X, and Y because of the limit on the maximum number of probes in a single hybridization.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens

Chen

Liu²,

Zhang

et al. 2017

Prenat Diagn

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Section: Discussionmentioning

confidence: 99%

“…Other techniques including FISH and MLPA have also been incorporated in recent studies. 11,25 However, FISH usually targets chromosomes 18, 21, 22, X, and Y because of the limit on the maximum number of probes in a single hybridization. MLPA, on the other hand, suffers from the same drawback.…”

Section: Comparison Of Techniques For Aneuploidy Detectionmentioning

confidence: 99%

A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens

Chen

Liu²,

Zhang

et al. 2017

Prenat Diagn

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“…MLPA has also been shown as a reliable method in the chromosomal analysis of aborted samples overcoming the drawbacks of conventional cytogenetic analyses associated with cell culture since MLPA can be performed on extracted DNA without culturing cells [Haoud et al, 2014;Kim et al, 2015].…”

Section: Discussionmentioning

confidence: 99%

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype

Gouas¹,

Kemeny²,

Beaufrère³

et al. 2015

Cytogenet Genome Res

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Fetuses with increased nuchal translucency thickness (NT) are at increased risk for chromosomal abnormalities. In case of a normal karyotype, a minority of them may present with structural abnormalities or genetic syndromes, which may be related to submicroscopic chromosomal imbalances. The objective of this study was to evaluate whether MLPA screening of 21 syndromic and subtelomeric regions could improve the detection rate of small chromosomal aberrations in fetuses with increased NT and a normal karyotype. A total of 106 prenatal samples from fetuses with NT ≥99th centile and normal R- and G-banding were analyzed by MLPA for subtelomeric imbalances (SALSA P036 and P070) and 21 syndromic regions (SALSA P245). One sample showed a benign CNV (dup(8)pter, FBXO25 gene), and 1 patient was found to have a loss of 18qter and a gain of 5pter as a result of an unbalanced translocation. The incidence of cryptic pathogenic variants was <1% or 2.7% when only fetuses with other ultrasound abnormalities were taken into account. Submicroscopic imbalances in fetuses with increased NT may be individually rare, and genome-wide screening seems more likely to improve the diagnostic yield in these fetuses.

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“…[9]), which has indeed been challenged very recently by Ref. [20]. It is clear that the amount of initial clustering has an impact on the subsequent evolution and thus provides an important input of the problem.…”

Section: Introductionmentioning

confidence: 99%

Spatial clustering of primordial black holes

Desjacques¹,

2018

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The possibility that primordial black holes (PBHs) are the dark matter (or a fraction thereof) has attracted much attention recently. Their spatial clustering is a fundamental property which determines, among others, whether current observational constraints are evaded within a given mass range, whether merging is significant and whether primordial black holes could generate cosmological structure. We treat them as discrete objects and clarify the issue of their spatial clustering, with an emphasis on short-range exclusion and its impact on their large scale power spectrum. Even if a Poissonian self-pair term is always present in the zero-lag correlation, this does not necessarily imply that primordial black holes are initially Poisson distributed. However, while the initial PBH clustering depends on the detailed shape of the small-scale power spectrum, we argue that it is not relevant for a narrow spectral feature and primordial black hole masses still allowed by observations.

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Prevalence of aneuploidies in products of spontaneous abortion: Interest of FISH and MLPA

Cited by 12 publications

References 30 publications

A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens

A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens

Prenatal Screening of 21 Microdeletion/Microduplication Syndromes and Subtelomeric Imbalances by MLPA in Fetuses with Increased Nuchal Translucency and Normal Karyotype

Spatial clustering of primordial black holes

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