Perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome
Objective: We present perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome. Case report: A 38-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2022-05-01
|
| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455922000912 |
| _version_ | 1818203584348553216 |
|---|---|
| author | Chih-Ping Chen Chao-Yun Wu Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Chen-Chi Lee Yun-Yi Chen Li-Feng Chen Wayseen Wang |
| author_facet | Chih-Ping Chen Chao-Yun Wu Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Chen-Chi Lee Yun-Yi Chen Li-Feng Chen Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: We present perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome. Case report: A 38-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[2]/46,XY[6]. Level II ultrasound at 20 weeks of gestation was unremarkable, and the fetus had normal male external genitalia. Following genetic counseling, the woman decided to continue the pregnancy. At 39 weeks of gestation, a healthy male baby was delivered with a body weight of 3410 g and a body length of 54.5 cm. The male external genital organs were normal. The cord blood had a karyotype of 46, XY (40/40 cells). The umbilical cord had a karyotype of 45,X[1]/46,XY[39]. During follow-up at age one month, his body weight was 4.4 Kg (15th-50th centile), and his body length was 56 cm (50th-85th centile). The infant was doing well. Interphase fluorescence in situ hybridization analysis on 100 buccal mucosal cells revealed no abnormal Y-deletion cell, and all cells contained one Y signal. Conclusion: Perinatal cytogenetic discrepancy may occur in the pregnancy with mosaic 45,X/46, XY at amniocentesis. |
| first_indexed | 2024-12-12T03:27:40Z |
| format | Article |
| id | doaj.art-54cd314b788449af8abe563384ee1ed5 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-12T03:27:40Z |
| publishDate | 2022-05-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-54cd314b788449af8abe563384ee1ed52022-12-22T00:39:59ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592022-05-01613525527Perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcomeChih-Ping Chen0Chao-Yun Wu1Schu-Rern Chern2Shin-Wen Chen3Fang-Tzu Wu4Chen-Chi Lee5Yun-Yi Chen6Li-Feng Chen7Wayseen Wang8Department 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 104217, Taiwan. Fax: +886 2 25433642, +886 2 25232448.Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, 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, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanObjective: We present perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome. Case report: A 38-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[2]/46,XY[6]. Level II ultrasound at 20 weeks of gestation was unremarkable, and the fetus had normal male external genitalia. Following genetic counseling, the woman decided to continue the pregnancy. At 39 weeks of gestation, a healthy male baby was delivered with a body weight of 3410 g and a body length of 54.5 cm. The male external genital organs were normal. The cord blood had a karyotype of 46, XY (40/40 cells). The umbilical cord had a karyotype of 45,X[1]/46,XY[39]. During follow-up at age one month, his body weight was 4.4 Kg (15th-50th centile), and his body length was 56 cm (50th-85th centile). The infant was doing well. Interphase fluorescence in situ hybridization analysis on 100 buccal mucosal cells revealed no abnormal Y-deletion cell, and all cells contained one Y signal. Conclusion: Perinatal cytogenetic discrepancy may occur in the pregnancy with mosaic 45,X/46, XY at amniocentesis.http://www.sciencedirect.com/science/article/pii/S102845592200091245,X/46,XYAmniocentesisMosaic Turner syndromePrenatal diagnosis |
| spellingShingle | Chih-Ping Chen Chao-Yun Wu Schu-Rern Chern Shin-Wen Chen Fang-Tzu Wu Chen-Chi Lee Yun-Yi Chen Li-Feng Chen Wayseen Wang Perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome Taiwanese Journal of Obstetrics & Gynecology 45,X/46,XY Amniocentesis Mosaic Turner syndrome Prenatal diagnosis |
| title | Perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome |
| title_full | Perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome |
| title_fullStr | Perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome |
| title_full_unstemmed | Perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome |
| title_short | Perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome |
| title_sort | perinatal cytogenetic discrepancy in a pregnancy with mosaic 45 x 46 xy at amniocentesis and a favorable outcome |
| topic | 45,X/46,XY Amniocentesis Mosaic Turner syndrome Prenatal diagnosis |
| url | http://www.sciencedirect.com/science/article/pii/S1028455922000912 |
| work_keys_str_mv | AT chihpingchen perinatalcytogeneticdiscrepancyinapregnancywithmosaic45x46xyatamniocentesisandafavorableoutcome AT chaoyunwu perinatalcytogeneticdiscrepancyinapregnancywithmosaic45x46xyatamniocentesisandafavorableoutcome AT schurernchern perinatalcytogeneticdiscrepancyinapregnancywithmosaic45x46xyatamniocentesisandafavorableoutcome AT shinwenchen perinatalcytogeneticdiscrepancyinapregnancywithmosaic45x46xyatamniocentesisandafavorableoutcome AT fangtzuwu perinatalcytogeneticdiscrepancyinapregnancywithmosaic45x46xyatamniocentesisandafavorableoutcome AT chenchilee perinatalcytogeneticdiscrepancyinapregnancywithmosaic45x46xyatamniocentesisandafavorableoutcome AT yunyichen perinatalcytogeneticdiscrepancyinapregnancywithmosaic45x46xyatamniocentesisandafavorableoutcome AT lifengchen perinatalcytogeneticdiscrepancyinapregnancywithmosaic45x46xyatamniocentesisandafavorableoutcome AT wayseenwang perinatalcytogeneticdiscrepancyinapregnancywithmosaic45x46xyatamniocentesisandafavorableoutcome |