Placental mosaicism in the era of chromosomal microarrays
| Autor: | Ida Vogel, Gerd-Eva Hoseth, Pauline Bogaard, Astrid Christine Petersen, Rikke Christensen, Else Marie Vestergaard, Dorte Launtoft Lildballe, Anne Nødgaard Sørensen |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Microarray Placenta Prenatal diagnosis Chorionic villus sampling Chromosome Disorders Gestational Age 030105 genetics & heredity Biology 03 medical and health sciences Fetus Pregnancy Prenatal Diagnosis Genetics medicine Humans Structural chromosomal abnormality Genetics (clinical) medicine.diagnostic_test Mosaicism Chromosome General Medicine Middle Aged 030104 developmental biology medicine.anatomical_structure Chorionic Villi Sampling Amniocentesis Chorionic villi Female DNA microarray |
| Zdroj: | Vogel, I, Vestergaard, E M, Lildballe, D L, Christensen, R, Hoseth, G E, Petersen, A C, Bogaard, P & Sørensen, A N 2020, ' Placental mosaicism in the era of chromosomal microarrays ', European Journal of Medical Genetics, vol. 63, no. 4, 103778 . https://doi.org/10.1016/j.ejmg.2019.103778 Vogel, I, Vestergaard, E M, Lildballe, D L, Christensen, R, Hoseth, G-E, Petersen, A C, Bogaard, P & Sørensen, A N 2020, ' Placental mosaicism in the era of chromosomal microarrays ', European Journal of Medical Genetics, vol. 63, no. 4, 103778 . https://doi.org/10.1016/j.ejmg.2019.103778 Vogel, I, Vestergaard, E M, Lildballe, D L, Christensen, R, Hoseth, G-E, Petersen, A C, Bogaard, P & Sørensen, A N W 2020, ' Placental mosaicism in the era of chromosomal microarrays ', European Journal of Medical Genetics, vol. 63, no. 4, 103778 . https://doi.org/10.1016/j.ejmg.2019.103778 |
| Popis: | OBJECTIVE: Placental mosaicism for a subset of a chromosome, a structural chromosomal aberration, is thought to be a very rare finding in chorionic villus samples. Here, we present clinical and laboratory data on five cases with such mosaicism for structural chromosomal aberrations.METHODS: During a period of 6 months, chromosomal microarray was carried out on DNA extracted from 100 uncultured chorion villous samples from high-risk pregnancies.RESULTS: In five of 100 consecutively collected samples (5/100), mosaicism for a structural chromosomal aberration was detected. The mosaic aberration was subsequently detected in fetal tissue in three of the five cases.CONCLUSION: Chromosomal microarray can detect placental mosaicism for structural chromosomal aberrations. This kind of mosaicism may be more frequent than previously anticipated, and the fetal involvement seems difficult to predict. These findings highlight the complexity of mosaicism for structural chromosomal aberrations in prenatal samples in the chromosomal microarray era. |
| Databáze: | OpenAIRE |
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