Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome

Chih-Ping Chen; Ming Chen; Liang-Kai Wang; Schu-Rern Chern; Peih-Shan Wu; Gwo-Chin Ma; Shun-Ping Chang; Shin-Wen Chen; Fang-Tzu Wu; Chen-Chi Lee; Yun-Yi Chen; Wayseen Wang

Taiwanese Journal of Obstetrics & Gynecology (Mar 2021)

Low-level mosaicism for trisomy 16 at amniocentesis in a pregnancy associated with intrauterine growth restriction and a favorable outcome

Chih-Ping Chen,
Ming Chen,
Liang-Kai Wang,
Schu-Rern Chern,
Peih-Shan Wu,
Gwo-Chin Ma,
Shun-Ping Chang,
Shin-Wen Chen,
Fang-Tzu Wu,
Chen-Chi Lee,
Yun-Yi Chen,
Wayseen Wang

Affiliations

Chih-Ping Chen: 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; 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.
Ming Chen: 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
Liang-Kai Wang: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan
Schu-Rern Chern: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan
Peih-Shan Wu: Gene Biodesign Co. Ltd, Taipei, Taiwan
Gwo-Chin Ma: 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
Shun-Ping Chang: Department of Genomic Medicine, Department of Genomic Science and Technology, Changhua Christian Hospital Healthcare System, Changhua, Taiwan
Shin-Wen Chen: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan
Fang-Tzu Wu: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan
Chen-Chi Lee: Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan
Yun-Yi Chen: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan
Wayseen Wang: Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan

Journal volume & issue: Vol. 60, no. 2
pp. 345 – 349

Abstract

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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% (log2 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.

Published in Taiwanese Journal of Obstetrics & Gynecology

ISSN: 1028-4559 (Print)
Publisher: Elsevier
Country of publisher: Taiwan, Province of China
LCC subjects: Medicine: Gynecology and obstetrics
Website: http://www.journals.elsevier.com/taiwanese-journal-of-obstetrics-and-gynecology/

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