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

Objective To evaluate the prevalence of mosaicism in chorionic villus sampling (CVS) samples after chromosomal microarray (CMA) and clinical outcome of pregnancies affected by confined placental mosaicism. Method We retrieved all results from CMA, array‐based comparative genomic hybridization, on CV...

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Bibliographic Details
Published in:Prenatal diagnosis 2020-01, Vol.40 (2), p.244-259
Main Authors: Lund, Ida C. B., Becher, Naja, Christensen, Rikke, Petersen, Olav B., Steffensen, Ellen H., Vestergaard, Else M., Vogel, Ida
Format: Article
Language:English
Subjects:
Abortion, Induced
Abortion, Spontaneous
Adult
Cells, Cultured
Chorionic Villi - metabolism
Chorionic Villi Sampling
Chromosome Deletion
Chromosome Disorders - epidemiology
Chromosome Disorders - genetics
Comparative Genomic Hybridization
Denmark - epidemiology
DNA Copy Number Variations
Down Syndrome - epidemiology
Female
Humans
Infant, Newborn
Karyotyping
Live Birth
Male
Maternal Serum Screening Tests
Mesoderm - cytology
Mesoderm - metabolism
Microarray Analysis
Mosaicism - statistics & numerical data
Nuchal Translucency Measurement
Placenta - metabolism
Pregnancy
Prevalence
Retrospective Studies
Trisomy 18 Syndrome - epidemiology
Trophoblasts - metabolism
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Summary:Objective To evaluate the prevalence of mosaicism in chorionic villus sampling (CVS) samples after chromosomal microarray (CMA) and clinical outcome of pregnancies affected by confined placental mosaicism. Method We retrieved all results from CMA, array‐based comparative genomic hybridization, on CVS samples from January 2011 to November 2017 from Central and North Denmark Regions. Mosaic results from uncultured chorionic villi, cytotrophoblasts and mesenchymal cells, after CVS and follow‐up on amniocytes, fetal tissue, or postnatal blood were studied and matched with clinical data from The Danish Fetal Medicine Database. Results Prevalence of mosaicism was 93 out of 2,288 (4.1%) CVS samples of which 17 (18.3%) concerned submicroscopic copy number variations (CNVs)
ISSN:0197-3851
1097-0223
DOI:10.1002/pd.5584