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Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review
Author(s) -
Thomsen Simon Horsholt,
Lund Ida Charlotte Bay,
Fagerberg Christina,
Bache Iben,
Becher Naja,
Vogel Ida
Publication year - 2021
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5875
Subject(s) - trisomy , fetus , obstetrics , chorionic villus sampling , medicine , amniotic fluid , danish , gynecology , aneuploidy , gestational age , pregnancy , prenatal diagnosis , retrospective cohort study , chorionic villi , pathology , biology , genetics , chromosome , linguistics , philosophy , gene
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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