染色体微阵列时代的胎盘嵌合体

Placental mosaicism in the era of chromosomal microarrays.

作者信息

Vogel Ida, Vestergaard Else Marie, Lildballe Dorte Launtoft, Christensen Rikke, Hoseth Gerd-Eva, Petersen Astrid Christine, Bogaard Pauline, Sørensen Anne Nødgaard

机构信息

Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark.

Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Center for Fetal Diagnostics, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Biochemistry, Horsens Regional Hospital, Horsens, Denmark.

出版信息

Eur J Med Genet. 2020 Apr;63(4):103778. doi: 10.1016/j.ejmg.2019.103778. Epub 2019 Sep 30.

DOI:10.1016/j.ejmg.2019.103778

PMID:31580923

Abstract

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.

摘要