Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review
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Objective: To evaluate the risk of fetal involvement when trisomy 8 mosaicism (T8M) is detected in chorionic villus samples (CVS). Methods: A retrospective descriptive study of registered pregnancies in Denmark with T8M in CVS identified through a database search and a review of published cases of T8M found through a systematic literature search and inclusion of cross references. Pregnancies with T8M in CVS and no additional numerical chromosomal aberrations were included. Results: A total of 37 Danish cases and 60 published cases were included. T8M detected in a CVS was associated with fetal involvement in 18 out of 97 pregnancies (18.6% [95%CI: 11.4–27.7]). Eight out of 70 (11.4% [95%CI: 5.1–21.3]) interpreted prenatally to be confined placental mosaicism (CPM) were subsequently found to be true fetal mosaicisms (TFM). Conclusion: T8M detected in CVS poses a significant risk of fetal involvement, and examination of amniotic fluid (AF) and/or fetal tissue should be offered. However, a normal result of AF still has a considerable residual risk of fetal involvement. Genetic counselling at an early gestational age is essential, and follow-up ultrasonography should be performed to predict fetal involvement if possible.
Originalsprog | Engelsk |
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Tidsskrift | Prenatal Diagnosis |
Vol/bind | 41 |
Udgave nummer | 4 |
Sider (fra-til) | 409-421 |
ISSN | 0197-3851 |
DOI | |
Status | Udgivet - 2021 |
ID: 254519272