Abstract
We report on ten pregnancies with trisomy 8 mosaicism. Nine cases were prenatally detected in chorionic villi (n=6), amniotic fluid (AF) cells (n=2) or fetal blood (FB) lymphocytes (n=1). Follow-up laboratory investigations showed confined placental mosaicism (CPM) or pseudomosaicism in eight cases. In one case with ultrasound abnormalities, trisomy 8 mosaicism was detected in FB cells although cultured AF cells showed normal cells only. Another case of mosaic trisomy 8 was prenatally missed; cytogenetic analysis of short-term cultured villi revealed a normal male karyotype, while postnatally, trisomy 8 mosaicism was detected in peripheral blood lymphocytes and skin fibroblasts of the affected child. These findings indicate the difficulties in the prenatal diagnosis of trisomy 8 mosaicism. When found in chorionic villi, it mostly represented CPM, while in a case of true fetal trisomy 8 mosaicism, the cytotrophoblast cells showed a normal karyotype. So, the cytotrophoblast compartment of chorionic villi is a poor indicator of the presence or absence of fetal trisomy 8 mosaicism. Follow-up investigations including amniocentesis and especially fetal blood sampling are required to come to a definite prenatal diagnosis of trisomy 8 mosaicism.
Original language | English |
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Pages (from-to) | 1075-8 |
Number of pages | 4 |
Journal | Prenatal diagnosis |
Volume | 21 |
Issue number | 12 |
DOIs | |
Publication status | Published - Dec 2001 |
Keywords
- Amniocentesis
- Amniotic Fluid/cytology
- Cells, Cultured
- Chorionic Villi Sampling
- Chromosomes, Human, Pair 8
- Female
- Fetal Blood/cytology
- Humans
- Karyotyping
- Lymphocytes/ultrastructure
- Mosaicism
- Pregnancy
- Prenatal Diagnosis
- Retrospective Studies
- Trisomy