Prenatal Diagnosis and Genetic Counseling for Mosaic Trisomy 13 |
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| Authors: | Chih-Ping Chen |
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| Affiliation: | 1. Department of Obstetrics and Gynecology, Taipei, Taiwan;2. Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan;3. Department of Biotechnology, Asia University, Taichung, Taiwan;4. School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan;5. Institute of Clinical and Community Health Nursing, Taipei, Taiwan;6. Department of Obstetrics and Gynecology, National Yang-Ming University, Taipei, Taiwan |
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| Abstract: | Counseling parents of a fetus with trisomy 13 mosaicism remains difficult because of the phenotypic variability associated with the condition; some patients exhibit the typical phenotype of complete trisomy 13 with neonatal death, while others have few dysmorphic features and prolonged survival. This article provides a comprehensive review of the prenatal diagnosis and genetic counseling for mosaic trisomy 13, including confined placental mosaicism 13, mosaic trisomy 13 diagnosed at amniocentesis, and phylloid hypomelanosis in association with mosaic trisomy 13. |
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