PMID- 33678340 OWN - NLM STAT- MEDLINE DCOM- 20210921 LR - 20210921 IS - 1875-6263 (Electronic) IS - 1028-4559 (Linking) VI - 60 IP - 2 DP - 2021 Mar TI - Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome. PG - 345-349 LID - S1028-4559(21)00014-0 [pii] LID - 10.1016/j.tjog.2021.01.014 [doi] AB - OBJECTIVE: We present low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction (IUGR) and a favorable outcome. CASE REPORT: A 31-year-old woman underwent amniocentesis at 24 weeks of gestation because of IUGR. Amniocentesis revealed a karyotype of 47,XX,+16 [3]/46,XX [22]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed gene dosage increase in chromosome 16 consistent with 28% mosaicism for trisomy 16. Uniparental disomy (UPD) 7 and UPD 11 were excluded. She underwent repeat amniocentesis at 27 weeks of gestation. Repeat amniocentesis revealed a karyotype of 47,XX,+16 [1]/46,XX [24]. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed 25%-35% (log(2) ratio = 0.17-0.25) mosaicism for trisomy 16. Interphase fluorescence in situ hybridization (FISH) analysis detected trisomy 16 signals in 28/100 (28%) uncultured amniocytes. Polymorphic DNA marker analysis excluded UPD 16. Level II ultrasound revealed no fetal abnormalities except symmetric IUGR. The pregnancy was continued to 37 weeks of gestation, and a 2306-g phenotypically normal baby was delivered. The cord blood had a karyotype of 46, XX in 50/50 lymphocytes. The umbilical cord had a karyotype of 47,XX,+16 [14]/46,XX [36]. Interphase FISH analysis on buccal mucosal cells and urinary cells at age three days revealed trisomy 16 signals in 3.8% (4/106) buccal mucosal cells and 6.5% (7/107) urinary cells, compared with 1% in the normal control. Polymorphic DNA marker analysis on placenta confirmed trisomy 16 in the placenta and a maternal origin of the extra chromosome 16. CONCLUSION: Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes may present in mosaic trisomy 16 at amniocentesis. Low-level mosaicism for trisomy 16 at amniocentesis without maternal UPD 16 can be associated with a favorable outcome despite the presence of IUGR. CI - Copyright (c) 2021. 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; 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; Department of Medical Laboratory Science and Biotechnology, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com. FAU - Chen, Ming AU - Chen M AD - Department of Genomic Medicine, Department of Genomic Science and Technology, Changhua Christian Hospital Healthcare System, Changhua, Taiwan; Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Medical Science, National Tsing Hua University, Hsinchu, Taiwan; Department of Biomedical Science, Dayeh University, Changhua, Taiwan. FAU - Wang, Liang-Kai AU - Wang LK AD - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan. 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 - Ma, Gwo-Chin AU - Ma GC AD - Department of Genomic Medicine, Department of Genomic Science and Technology, Changhua Christian Hospital Healthcare System, Changhua, Taiwan; Department of Biomedical Engineering, Chung Yuan Christian University, Taoyuan, Taiwan; Department of Medical Laboratory Science and Biotechnology, Central Taiwan University of Science and Technology, Taichung, Taiwan. FAU - Chang, Shun-Ping AU - Chang SP AD - Department of Genomic Medicine, Department of Genomic Science and Technology, Changhua Christian Hospital Healthcare System, Changhua, Taiwan. FAU - Chen, Shin-Wen AU - Chen SW 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 - Lee, Chen-Chi AU - Lee CC AD - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan. FAU - Chen, Yun-Yi AU - Chen YY AD - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan. FAU - Wang, Wayseen AU - Wang W AD - Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan. LA - eng PT - Case Reports PL - China (Republic : 1949- ) TA - Taiwan J Obstet Gynecol JT - Taiwanese journal of obstetrics & gynecology JID - 101213819 RN - Chromosome 16, trisomy SB - IM MH - Adult MH - *Amniocentesis MH - Chromosomes, Human, Pair 16/genetics MH - Comparative Genomic Hybridization MH - Female MH - Fetal Growth Retardation/*diagnosis/*genetics MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotype MH - Karyotyping MH - Live Birth MH - Mosaicism/*embryology MH - Pregnancy MH - Trisomy/*diagnosis/genetics OTO - NOTNLM OT - Amniocentesis OT - Intrauterine growth restriction OT - Mosaicism OT - Prenatal diagnosis OT - Trisomy 16 EDAT- 2021/03/09 06:00 MHDA- 2021/09/22 06:00 CRDT- 2021/03/08 05:35 PHST- 2020/12/14 00:00 [accepted] PHST- 2021/03/08 05:35 [entrez] PHST- 2021/03/09 06:00 [pubmed] PHST- 2021/09/22 06:00 [medline] AID - S1028-4559(21)00014-0 [pii] AID - 10.1016/j.tjog.2021.01.014 [doi] PST - ppublish SO - Taiwan J Obstet Gynecol. 2021 Mar;60(2):345-349. doi: 10.1016/j.tjog.2021.01.014.