TY - JOUR
T1 - Placental mosaicism in the era of chromosomal microarrays
AU - Vogel, Ida
AU - Vestergaard, Else Marie
AU - Lildballe, Dorte Launtoft
AU - Christensen, Rikke
AU - Hoseth, Gerd-Eva
AU - Petersen, Astrid Christine
AU - Bogaard, Pauline
AU - Sørensen, Anne Nødgaard
PY - 2020/4
Y1 - 2020/4
N2 - 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.
AB - 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.
KW - Chorionic villus sampling
KW - Mosaicism
KW - Placenta
KW - Prenatal diagnosis
KW - Structural chromosomal abnormality
UR - http://www.scopus.com/inward/record.url?scp=85072820072&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2019.103778
DO - 10.1016/j.ejmg.2019.103778
M3 - Journal article
SN - 1769-7212
VL - 63
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 4
M1 - 103778
ER -