Chih-Ping Chen1, Chin-Yuan Hsu2, Schu-Rern Chern3, Peih-Shan Wu4, Shin-Wen Chen5, Wayseen Wang6. 1. Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com. 2. Four Seasons Women and Children Clinics, Taipei, Taiwan. 3. Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan. 4. Gene Biodesign Co. Ltd, Taipei, Taiwan. 5. Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan. 6. Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
Abstract
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 <10% mosaicism for trisomy 8 on the cord blood lymphocytes. Polymorphic DNA marker analysis excluded uniparental disomy 8. A malformed 2440-g dead fetus was delivered at 34 weeks of gestation with facial dysmorphism. CONCLUSION: Cytogenetic discrepancy can occur between cultured and uncultured amniocytes in mosaic trisomy 8 at amniocentesis. aCGH analysis on uncultured amniocytes is useful for confirmation of mosaic trisomy 8 at amniocentesis. Fetuses with low-level mosaicism for trisomy 8 may prenatally present ventriculomegaly and dysgenesis of the corpus callosum.
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 <10% mosaicism for trisomy 8 on the cord blood lymphocytes. Polymorphic DNA marker analysis excluded uniparental disomy 8. A malformed 2440-g dead fetus was delivered at 34 weeks of gestation with facial dysmorphism. CONCLUSION: Cytogenetic discrepancy can occur between cultured and uncultured amniocytes in mosaic trisomy 8 at amniocentesis. aCGH analysis on uncultured amniocytes is useful for confirmation of mosaic trisomy 8 at amniocentesis. Fetuses with low-level mosaicism for trisomy 8 may prenatally present ventriculomegaly and dysgenesis of the corpus callosum.
Authors: Lore Lannoo; Khaila van Straaten; Jeroen Breckpot; Nathalie Brison; Luc De Catte; Eftychia Dimitriadou; Eric Legius; Hilde Peeters; Ilse Parijs; Olga Tsuiko; Leen Vancoillie; Joris Robert Vermeesch; Griet Van Buggenhout; Kris Van Den Bogaert; Kristel Van Calsteren; Koenraad Devriendt Journal: Eur J Hum Genet Date: 2022-07-27 Impact factor: 5.351