title: Monozygotic twins discordant for trisomy 13: counselling and management issues.
abstract: The diagnosis and management of a heterokaryotypic monochorionic pregnancy, in which one of twins had trisomy 13, is presented. Monozygosity and discordant karyotypes were confirmed by amniocentesis of both the sacs. Radiofrequency ablation of the trisomic twin was successfully performed at 18-weeks gestation and the pregnancy ended at term with the birth of a healthy girl who remains well on follow-up at 12 months of age. We reiterate the importance of early amniocentesis of both the sacs in the presence of discordant fetal abnormalities and consideration of selective fetal termination to optimise the outcome of heterokaryotypic monochorionic twin pregnancies.
authors: Department of Clinical Genetics, Nottingham City Hospital, Nottingham, UK.
authors: A
authors: A
authors: Dixit
authors: G
authors: G
authors: Tanteles
authors: K
authors: K
authors: Ocraft
authors: A
authors: A
authors: McEwan
authors: A
authors: A
authors: Sarkar
mesh_terms: D000328:Adult; D000649:Amniocentesis; D017115:Catheter Ablation; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000628:therapy; D002882:Chromosomes, Human, Pair 13; D004200:Diseases in Twins; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy / Q000175:diagnosis*; D000073839:Trisomy 13 Syndrome; D014430:Twins, Monozygotic / Q000235:genetics*