Prenatal diagnosis and genetic counseling for mosaic trisomy 13.
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.
Chen
Chih-Ping
CP
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan. cpc_mmh@yahoo.com
D000649:Amniocentesis; D015193:Chorionic Villi Sampling; D002882:Chromosomes, Human, Pair 13; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D017496:Hypopigmentation / Q000175:diagnosis / Q000235:genetics; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000175:diagnosis*