| Autor: |
Chih-Ping Chen, Chin-Yuan Hsu, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Wayseen Wang |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
Taiwanese Journal of Obstetrics & Gynecology, Vol 59, Iss 1, Pp 127-129 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
1028-4559 |
| DOI: |
10.1016/j.tjog.2019.11.020 |
| Popis: |
Objective: We present prenatal diagnosis of mosaic trisomy 8 by amniocentesis in a fetus with central nervous system abnormalities. Case report: A 39-year-old woman was found to have fetal bilateral ventriculomegaly and enlargement of the third ventricle on prenatal ultrasound at 32 weeks of gestation. Fetal magnetic resonance imaging examination confirmed bilateral ventriculomegaly and dysgenesis of the corpus callosum. Amniocentesis was performed subsequently. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniotic cells revealed trisomy 8 mosaicism with a result of arr [GRCh37] (8) × 3[0.19], (X,Y) × 1. Conventional cytogenetic analysis on cultured amniocytes showed that among 108 cells in 12 colonies of three cultures, only one cell was abnormal with trisomy 8, trisomy 9 and monosomy 13, while the rest 107 cells had a normal karyotype. Repeat amniocentesis and cord blood sampling revealed a result of arr 8p23.3q24.3 (191,530–146,280,020) × 2.3 with a log2 ratio of 0.2 compatible with 20–30% mosaicism for trisomy 8 on the uncultured amniocytes, and a result of arr 8p23.3q24.3 (191,530–146,280,020) × 2.1 with a log2 ratio of 0.08 compatible with |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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