Prevalence of mosaicism in uncultured chorionic villus samples after chromosomal microarray and clinical outcome in pregnancies affected by confined placental mosaicism

Lund, Ida Charlotte Bay; Becher, Naja; Christensen, Rikke; Petersen, Olav Bjørn; Steffensen, Ellen Hollands; Vestergaard, Else Marie; Vogel, Ida

doi:10.1002/pd.5584

Cited by 27 publications

(52 citation statements)

References 35 publications

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“…In their study, 18.3% of the mosaicism cases involved submicroscopic CNVs, they confirmed the possibility of true fetal mosaicism (TFM) of a submicroscopic CNV in three new cases and they found no statistically significant difference in the prevalence of CPM and TFM when comparing mosaicism involving CNVs and whole chromosomes. There are eight previous cases of CPM for a submicroscopic CNV on the X chromosome reported in the literature [5,7,15]. To the best of our knowledge, this is the first report of a case of CPM for a DMD gene deletion.…”

Section: Introductionmentioning

confidence: 74%

“…CPM is observed in approximately 2% of chorionic villi samples analyzed with conventional karyotyping [1][2][3][4]. Three studies evaluating CMA and the detection of mosaicism in prenatal samples estimated the prevalence of mosaicism to between 1.8 and 4.1%, suggesting higher detection rates with CMA than conventional karyotyping [5][6][7].…”

Section: Introductionmentioning

confidence: 99%

“…CPM can involve different types of numerical and/ or structural chromosome aberrations, where autosomal trisomies are the most common abnormality [1,2,13]. There is a vast amount of data on CPM for aneuploidy and structural chromosome aberrations [3,14], but very few cases of CPM for submicroscopic copy number variations (CNV) < 10 Mb [5,7,15,16]. To our knowledge, the largest study regarding CMA detecting mosaicism for submicroscopic CNVs in prenatal samples is so far by Lund et al who identified 93 cases of mosaicism out of 2288 (4.1%) prenatal CMAs on uncultured chorionic villi [7].…”

Section: Introductionmentioning

confidence: 99%

“…There is a vast amount of data on CPM for aneuploidy and structural chromosome aberrations [3,14], but very few cases of CPM for submicroscopic copy number variations (CNV) < 10 Mb [5,7,15,16]. To our knowledge, the largest study regarding CMA detecting mosaicism for submicroscopic CNVs in prenatal samples is so far by Lund et al who identified 93 cases of mosaicism out of 2288 (4.1%) prenatal CMAs on uncultured chorionic villi [7]. In their study, 18.3% of the mosaicism cases involved submicroscopic CNVs, they confirmed the possibility of true fetal mosaicism (TFM) of a submicroscopic CNV in three new cases and they found no statistically significant difference in the prevalence of CPM and TFM when comparing mosaicism involving CNVs and whole chromosomes.…”

Section: Introductionmentioning

confidence: 99%

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Confined placental mosaicism of Duchenne muscular dystrophy: a case report

et al. 2020

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Background Small copy number variations confined to the placenta are extremely rare findings in chorionic villus sampling, nonetheless of great clinical importance. To the best of our knowledge, this is the first reported case of confined placental mosaicism for an intragenic Duchenne muscular dystrophy (DMD) gene deletion. Case presentation We describe a pregnant woman where confined placental mosaicism for an intragenic DMD deletion was detected. She was referred for a chorionic villus sampling due to an increased risk of trisomy 21 derived from combined first trimester screening. Rapid aneuploidy detection showed a male fetus with normal results for chromosomes 13, 18 and 21. A chromosomal microarray demonstrated a deletion of exons 61–62 in the DMD gene in approximately 50% of the cells. A follow-up analysis on amniotic cells showed a normal result for the DMD gene. Hence, confined placental mosaicism was confirmed. Conclusions We propose tissue specific fragile sites as a possible theoretical mechanism for the formation of submicroscopic copy number variations and highlight that the finding of DMD deletion mosaicism in a chorionic villus sample might be isolated to the placenta. Therefore, confirmation by amniocentesis is of crucial clinical importance to avoid misdiagnosis of the fetus.

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Section: Introductionmentioning

confidence: 74%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Confined placental mosaicism of Duchenne muscular dystrophy: a case report

et al. 2020

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“…In spontaneous abortions, trisomy has been observed on all chromosomes, but trisomy on chromosomes 2, 13, 15 16, 18, 21, and 22 is the most frequent [28]. Often, a mosaic karyotype is observed in spontaneous abortions [30,31]. In humans, embryos with trisomy 13, 18, and 21 and sex chromosome aneuploidy survive until birth.…”

Section: Incidence Of Aneuploidy In Ontogenesismentioning

confidence: 99%

Aneuploidy and DNA Methylation as Mirrored Features of Early Human Embryo Development

Tolmacheva

Vasilyev

Lebedev

2020

Genes

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Genome stability is an integral feature of all living organisms. Aneuploidy is the most common cause of fetal death in humans. The timing of bursts in increased aneuploidy frequency coincides with the waves of global epigenetic reprogramming in mammals. During gametogenesis and early embryogenesis, parental genomes undergo two waves of DNA methylation reprogramming. Failure of these processes can critically affect genome stability, including chromosome segregation during cell division. Abnormal methylation due to errors in the reprogramming process can potentially lead to aneuploidy. On the other hand, the presence of an entire additional chromosome, or chromosome loss, can affect the global genome methylation level. The associations of these two phenomena are well studied in the context of carcinogenesis, but here, we consider the relationship of DNA methylation and aneuploidy in early human and mammalian ontogenesis. In this review, we link these two phenomena and highlight the critical ontogenesis periods and genome regions that play a significant role in human reproduction and in the formation of pathological phenotypes in newborns with chromosomal aneuploidy.

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