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Thomsen, Simon Horsholt; Lund, Ida Charlotte Bay; Fagerberg, Christina; Bache, Iben; Becher, Naja; Vogel, Ida
Prenatal diagnosis, March 2021, 2021-Mar, 2021-03-00, 20210301, Volume: 41, Issue: 4Journal Article
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.
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