Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy
Objective: We present prenatal diagnosis of mosaic trisomy 18 by amniocentesis associated with a favorable fetal outcome in a pregnancy. Case report: A 42-year-old, gravida 4, para 2, woman underwent amniocentesis at 18 weeks of gestation because advanced maternal age. Amniocentesis revealed a karyo...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2022-07-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455922001577 |
| _version_ | 1811239388761292800 |
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| author | Chih-Ping Chen Te-Yao Hsu Ching-Chang Tsai Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Peih-Shan Wu Chen-Chi Lee Li-Feng Chen Chen-Wen Pan Wayseen Wang |
| author_facet | Chih-Ping Chen Te-Yao Hsu Ching-Chang Tsai Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Peih-Shan Wu Chen-Chi Lee Li-Feng Chen Chen-Wen Pan Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: We present prenatal diagnosis of mosaic trisomy 18 by amniocentesis associated with a favorable fetal outcome in a pregnancy. Case report: A 42-year-old, gravida 4, para 2, woman underwent amniocentesis at 18 weeks of gestation because advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+18[6]/46,XX[17]. Simultaneous array comparative genomic hybridization (aCGH) on uncultured amniocytes showed the result of 45% mosaicism for trisomy 18. At 25 weeks of gestation, the woman underwent repeat amniocentesis which revealed a karyotype of 47,XX,+18[10]/46,XX[24]. Simultaneous aCGH on uncultured amniocytes showed the result of arr 18p11.32q23 (148,963–78,012,829) × 2.3 [GRCh (hg19)] with a log2 ratio of 0.2–0.25 compatible with 30–38% mosaicism for trisomy 18. The parental karyotypes were normal. Prenatal ultrasound was unremarkable. Interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes showed 27% (27/100 cells) mosaicism for trisomy 18. Quantitative fluorescent polymerase chain reaction (QF-PCR) on uncultured amniocytes excluded uniparental disomy (UPD) 18. Non-invasive prenatal testing (NIPT) analysis at 34 weeks of gestation revealed a significant gene dosage increase of chromosome 18 (29.95; normal control: −3.0–3.0). At 39 weeks of gestation, a 2840-g phenotypically normal baby was delivered. The cord blood had a karyotype of 47,XX,+18[8]/46,XX[32]. The placenta was trisomy 18 of maternal origin. The umbilical cord had a karyotype of 47,XX,+18[2]/46,XX[38]. At age 1½ months, the peripheral blood had a karyotype of 47,XX,+18[5]/46,XX[35], and FISH analysis on buccal mucosal cells revealed 2% (2/102 cells) mosaicism for trisomy 18. When follow-up at age seven months, the neonate was phenotypically normal, and the peripheral blood had a karyotype of 47,XX,+18[1]/46,XX[39]. Conclusions: Mosaic trisomy 18 at amniocentesis without abnormal fetal ultrasound can be associated with a favorable outcome, and the abnormal trisomy 18 cell line may decrease progressively after birth. |
| first_indexed | 2024-04-12T12:59:08Z |
| format | Article |
| id | doaj.art-4d23b7d26ac741e1a00ff09a2778f2eb |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-04-12T12:59:08Z |
| publishDate | 2022-07-01 |
| publisher | Elsevier |
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| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-4d23b7d26ac741e1a00ff09a2778f2eb2022-12-22T03:32:13ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592022-07-01614690694Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancyChih-Ping Chen0Te-Yao Hsu1Ching-Chang Tsai2Schu-Rern Chern3Shin-Wen Chen4Fang-Tzu Wu5Peih-Shan Wu6Chen-Chi Lee7Li-Feng Chen8Chen-Wen Pan9Wayseen Wang10Department 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; Corresponding author. Department of Obstetrics and Gynecology, MacKay Memorial Hospital 92, Section 2, Chung-Shan North Road, Taipei 10449, Taiwan. Fax: +886 2 25433642, +886-2-25232448.Department of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, TaiwanDepartment of Obstetrics and Gynecology, Kaohsiung Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Kaohsiung, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanGene Biodesign Co. Ltd, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanObjective: We present prenatal diagnosis of mosaic trisomy 18 by amniocentesis associated with a favorable fetal outcome in a pregnancy. Case report: A 42-year-old, gravida 4, para 2, woman underwent amniocentesis at 18 weeks of gestation because advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+18[6]/46,XX[17]. Simultaneous array comparative genomic hybridization (aCGH) on uncultured amniocytes showed the result of 45% mosaicism for trisomy 18. At 25 weeks of gestation, the woman underwent repeat amniocentesis which revealed a karyotype of 47,XX,+18[10]/46,XX[24]. Simultaneous aCGH on uncultured amniocytes showed the result of arr 18p11.32q23 (148,963–78,012,829) × 2.3 [GRCh (hg19)] with a log2 ratio of 0.2–0.25 compatible with 30–38% mosaicism for trisomy 18. The parental karyotypes were normal. Prenatal ultrasound was unremarkable. Interphase fluorescence in situ hybridization (FISH) on uncultured amniocytes showed 27% (27/100 cells) mosaicism for trisomy 18. Quantitative fluorescent polymerase chain reaction (QF-PCR) on uncultured amniocytes excluded uniparental disomy (UPD) 18. Non-invasive prenatal testing (NIPT) analysis at 34 weeks of gestation revealed a significant gene dosage increase of chromosome 18 (29.95; normal control: −3.0–3.0). At 39 weeks of gestation, a 2840-g phenotypically normal baby was delivered. The cord blood had a karyotype of 47,XX,+18[8]/46,XX[32]. The placenta was trisomy 18 of maternal origin. The umbilical cord had a karyotype of 47,XX,+18[2]/46,XX[38]. At age 1½ months, the peripheral blood had a karyotype of 47,XX,+18[5]/46,XX[35], and FISH analysis on buccal mucosal cells revealed 2% (2/102 cells) mosaicism for trisomy 18. When follow-up at age seven months, the neonate was phenotypically normal, and the peripheral blood had a karyotype of 47,XX,+18[1]/46,XX[39]. Conclusions: Mosaic trisomy 18 at amniocentesis without abnormal fetal ultrasound can be associated with a favorable outcome, and the abnormal trisomy 18 cell line may decrease progressively after birth.http://www.sciencedirect.com/science/article/pii/S1028455922001577AmniocentesisMosaicismMosaic trisomy 18Prenatal diagnosis |
| spellingShingle | Chih-Ping Chen Te-Yao Hsu Ching-Chang Tsai Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Peih-Shan Wu Chen-Chi Lee Li-Feng Chen Chen-Wen Pan Wayseen Wang Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy Taiwanese Journal of Obstetrics & Gynecology Amniocentesis Mosaicism Mosaic trisomy 18 Prenatal diagnosis |
| title | Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy |
| title_full | Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy |
| title_fullStr | Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy |
| title_full_unstemmed | Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy |
| title_short | Mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy |
| title_sort | mosaic trisomy 18 at amniocentesis associated with a favorable fetal outcome in a pregnancy |
| topic | Amniocentesis Mosaicism Mosaic trisomy 18 Prenatal diagnosis |
| url | http://www.sciencedirect.com/science/article/pii/S1028455922001577 |
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