PMID- 32127155 OWN - NLM STAT- MEDLINE DCOM- 20201214 LR - 20201214 IS - 1875-6263 (Electronic) IS - 1028-4559 (Linking) VI - 59 IP - 2 DP - 2020 Mar TI - Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis in a pregnancy with a favorable outcome and a literature review of heterokaryotypic monozygotic twins at amniocentesis. PG - 306-313 LID - S1028-4559(20)30022-X [pii] LID - 10.1016/j.tjog.2020.01.022 [doi] AB - OBJECTIVE: We present a set of twins discordant for low-level mosaic trisomy 17 at amniocentesis, and we review the literature of heterokaryotypic monozygotic twins at amniocentesis. MATERIALS AND METHODS: We describe a monozygotic twin pregnancy with discordant karyotypes and structural abnormalities. A 22-year-old, primigravid woman underwent amniocentesis at 21 weeks of gestation because of an abnormal maternal serum screening result for Down syndrome. Prenatal ultrasound revealed twin-twin transfusion syndrome but no detectable fetal structural abnormalities. Conventional cytogenetic analysis was applied on cultured amniocytes and parental bloods. Polymorphic DNA marker analysis by quantitative fluorescent polymerase chain reaction (QF-PCR) testing was performed on the DNAs extracted from cultured amniocytes, parental bloods and peripheral bloods of the twins after birth. Interphase fluorescence in situ hybridization (FISH) analysis was performed on buccal mucosal epithelial cells. RESULTS: Amniocentesis revealed a karyotype of 47,XX,+17 [3]/46,XX [23] in twin A and a karyotype of 46,XX in twin B. The parental karyotypes were normal. QF-PCR confirmed monozygotic twinning and excluded uniparental disomy (UPD) 17. At 35 weeks of gestation, a 1778-g twin A and a 2396-g twin B were delivered smoothly. Both infants had the karyotype of 46,XX in the peripheral bloods and were phenotypically normal except that twin A had preaxial polydactyly on the right hand. Postnatal QF-PCR testing confirmed monozygotic twinning. The infants were doing well at age 2 years and 7 months at follow-ups with normal physical and psychomotor development. FISH analysis on buccal mucosal epithelial cells showed trisomy 17 signals in 4.16% (4/96) cells, compared with 5% (5/101 cells) in normal control. CONCLUSIONS: Monozygotic twins discordant for low-level mosaic trisomy 17 at amniocentesis without ultrasound abnormalities can have a favorable outcome. Prenatal diagnosis of twins discordant for structural abnormalities and/or chromosomal aberrations should alert the possibility of monozygotic twinning, and QF-PCR testing is useful for rapid determination of zygosity and exclusion of UPD under such a circumstance. CI - Copyright (c) 2020. Published by Elsevier B.V. FAU - Chen, Chih-Ping AU - Chen CP AD - 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. FAU - Chern, Schu-Rern AU - Chern SR AD - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan. FAU - Wu, Peih-Shan AU - Wu PS AD - Gene Biodesign Co. Ltd, Taipei, Taiwan. FAU - Chen, Shin-Wen AU - Chen SW AD - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan. FAU - Lai, Shih-Ting AU - Lai ST AD - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan. FAU - Wu, Fang-Tzu AU - Wu FT AD - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan. FAU - Town, Dai-Dyi AU - Town DD AD - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan. FAU - Wang, Wayseen AU - Wang W AD - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan. LA - eng PT - Case Reports PT - Journal Article PT - Review PL - China (Republic : 1949- ) TA - Taiwan J Obstet Gynecol JT - Taiwanese journal of obstetrics & gynecology JID - 101213819 RN - Chromosome 17 trisomy SB - IM MH - Adult MH - *Amniocentesis MH - Chromosomes, Human, Pair 17/genetics MH - Cytogenetic Analysis MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotype MH - Karyotyping MH - Live Birth MH - Mosaicism/embryology MH - Pregnancy MH - Pregnancy, Twin/*genetics MH - Trisomy/*diagnosis/genetics MH - Twins, Monozygotic/*genetics OTO - NOTNLM OT - Amniocentesis OT - Discordant karyotypes OT - Heterokaryotypic monozygotic twins OT - Mosaic trisomy 17 COIS- Conflict of Interest The authors have no conflicts of interest relevant to this article. EDAT- 2020/03/05 06:00 MHDA- 2020/12/15 06:00 CRDT- 2020/03/05 06:00 PHST- 2019/12/19 00:00 [accepted] PHST- 2020/03/05 06:00 [entrez] PHST- 2020/03/05 06:00 [pubmed] PHST- 2020/12/15 06:00 [medline] AID - S1028-4559(20)30022-X [pii] AID - 10.1016/j.tjog.2020.01.022 [doi] PST - ppublish SO - Taiwan J Obstet Gynecol. 2020 Mar;59(2):306-313. doi: 10.1016/j.tjog.2020.01.022.