PMID- 36720529 OWN - NLM STAT- MEDLINE DCOM- 20230202 LR - 20230202 IS - 1875-6263 (Electronic) IS - 1028-4559 (Linking) VI - 62 IP - 1 DP - 2023 Jan TI - Mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissues. PG - 148-154 LID - S1028-4559(22)00357-6 [pii] LID - 10.1016/j.tjog.2022.01.014 [doi] AB - OBJECTIVE: We present mosaic tetrasomy 9p at amniocentesis in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissue. CASE REPORT: A 33-year-old primigravid woman underwent elective amniocentesis at 18 weeks of gestation because of anxiety, and the karyotype of cultured amniocytes was 47,XX,+i (9) (p10)[20]/46,XX [55]. Cordocentesis was performed at 20 weeks of gestation, and the karyotype of cord blood was 47,XX,+i (9) (p10)[7]/46,XX [15]. She was referred for genetic counseling at 23 weeks of gestation, and repeat amniocentesis revealed a karyotype of 47,XX,+i (9) (p10)[1]/46,XX [16] with seven cells in one colony having tetrasomy 9p in cultured amniocytes, and in uncultured amniocytes, quantitative fluorescence polymerase chain reaction (QF-PCR) analysis excluded uniparental disomy (UPD) 9 and determined paternal origin of the extra i (9p), array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed arr 9p24.3p13.1 x 3.0 consistent with 50% mosaicism for tetrasomy 9p, and interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes showed 22.6% (12/53 cells) mosaicism for tetrasomy 9p. A third amniocentesis at 27 weeks of gestation revealed a karyotype of 46, XX (10/10 colonies) in cultured amniocytes, and interphase FISH analysis on uncultured amniocytes revealed 20% (20/100 cells) mosaicism for tetrasomy 9p. The parental karyotypes and prenatal ultrasound were normal. At 39 weeks of gestation, a phenotypically normal 3388-g female baby was delivered. The karyotypes of cord blood, umbilical cord and placenta were 47,XX,+idic (9) (q12)[19]/46,XX [21] or 47,XX,+idic (9) (pter-->q12:q12-->pter)[19]/46,XX [21], 47,XX,+idic (9) (q12)[1]/46,XX [39] and 47,XX,+idic (9) (q12)[4]/46,XX [36], respectively. When follow-up at age two months, the neonate was phenotypically normal, the peripheral blood had a karyotype of 47,XX,+idic (9) (q12)[18]/46,XX [22], and interphase FISH analysis on 100 buccal mucosal cells revealed 1% (1/100 cells) mosaicism for tetrasomy 9p. When follow-up at age seven months, the neonate was phenotypically normal, and the peripheral blood had a karyotype of 47,XX,+idic(9)(q12)[14]/46,XX[26]. CONCLUSION: Mosaic tetrasomy 9p at amniocentesis can be a transient and benign condition, and can be associated with a favorable fetal outcome and perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy in various tissue. CI - Copyright (c) 2023. 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 Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com. FAU - Chen, Shin-Wen AU - Chen SW 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 - Wu, Fang-Tzu AU - Wu FT AD - Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan. FAU - Pan, Yen-Ting AU - Pan YT 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 - Pan, Chen-Wen AU - Pan CW 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 PT - Journal Article PL - China (Republic : 1949- ) TA - Taiwan J Obstet Gynecol JT - Taiwanese journal of obstetrics & gynecology JID - 101213819 RN - Chromosome 9, tetrasomy 9p SB - IM MH - Pregnancy MH - Female MH - Humans MH - *Amniocentesis MH - *Mosaicism MH - Comparative Genomic Hybridization MH - In Situ Hybridization, Fluorescence MH - Aneuploidy MH - Karyotyping MH - Karyotype MH - Trisomy OTO - NOTNLM OT - Amniocentesis OT - Cytogenetic discrepancy OT - Fetal outcome OT - Mosaic tetrasomy 9p COIS- Declaration of competing interest The authors have no conflicts of interest relevant to this article. EDAT- 2023/02/01 06:00 MHDA- 2023/02/03 06:00 CRDT- 2023/01/31 20:54 PHST- 2022/01/07 00:00 [accepted] PHST- 2023/01/31 20:54 [entrez] PHST- 2023/02/01 06:00 [pubmed] PHST- 2023/02/03 06:00 [medline] AID - S1028-4559(22)00357-6 [pii] AID - 10.1016/j.tjog.2022.01.014 [doi] PST - ppublish SO - Taiwan J Obstet Gynecol. 2023 Jan;62(1):148-154. doi: 10.1016/j.tjog.2022.01.014.