PMID- 26522116 OWN - NLM STAT- MEDLINE DCOM- 20160830 LR - 20151102 IS - 1875-6263 (Electronic) IS - 1028-4559 (Linking) VI - 54 IP - 5 DP - 2015 Oct TI - Interphase fluorescence in situ hybridization assisting in prenatal counseling for amniocentesis karyotyping-detected fetal mosaicism. PG - 588-91 LID - S1028-4559(15)00177-1 [pii] LID - 10.1016/j.tjog.2015.08.019 [doi] AB - OBJECTIVE: To evaluate how interphase fluorescence in situ hybridization (FISH) played a role in genetic counseling when encountering prenatally detected fetal mosaicism cases. MATERIALS AND METHODS: We retrospectively reviewed 17 cases of amniotic fluid specimens diagnosed with Level III chromosome mosaicism using in situ coverslip culture method. Among them, seven received additional interphase FISH tests; five were related to autosomal mosaicism and two others were due to sex chromosomes. RESULTS: In the autosome group, one couple chose to terminate the pregnancy due to a high percentage of trisomy 21 cells (48.1%) shown on interphase FISH; in the gonosome group, one case chose termination as FISH exhibited as high as 80% of XXYY cells. CONCLUSION: Performing interphase FISH on uncultured amniocytes for cases detected with mosaicism by traditional amniotic fluid culture provided quick confirmation of the karyotyping results; additionally, obtaining information about the extent of the abnormality involved using interphase FISH could also play a role in counseling patients on the decision making concerning the future of their pregnancies. CI - Copyright (c) 2015. Published by Elsevier B.V. FAU - Su, Sheng-Yuan AU - Su SY AD - Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Taoyuan, Taiwan. FAU - Chueh, Ho-Yen AU - Chueh HY AD - Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Taoyuan, Taiwan. FAU - Li, Ching-Pei AU - Li CP AD - Cytogenetic Laboratory, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan. FAU - Chang, Yao-Lung AU - Chang YL AD - Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Taoyuan, Taiwan. FAU - Chang, Shuenn-Dyh AU - Chang SD AD - Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Taoyuan, Taiwan. Electronic address: gene@cgmh.org.tw. 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; Department of Biotechnology, Asia University, Taichung, 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. LA - eng PT - Journal Article PL - China (Republic : 1949- ) TA - Taiwan J Obstet Gynecol JT - Taiwanese journal of obstetrics & gynecology JID - 101213819 SB - IM MH - Adult MH - Amniocentesis/*methods MH - Amniotic Fluid/*cytology MH - Comparative Genomic Hybridization MH - Female MH - Genetic Counseling/*methods MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Interphase MH - Karyotyping/methods MH - *Mosaicism MH - Pregnancy MH - Prenatal Diagnosis/*methods MH - Retrospective Studies MH - Trisomy/*diagnosis/genetics OTO - NOTNLM OT - counseling OT - interphase fluorescence in situ hybridization OT - karyotype OT - mosaicism EDAT- 2015/11/03 06:00 MHDA- 2016/08/31 06:00 CRDT- 2015/11/03 06:00 PHST- 2015/07/08 00:00 [received] PHST- 2015/07/08 00:00 [accepted] PHST- 2015/11/03 06:00 [entrez] PHST- 2015/11/03 06:00 [pubmed] PHST- 2016/08/31 06:00 [medline] AID - S1028-4559(15)00177-1 [pii] AID - 10.1016/j.tjog.2015.08.019 [doi] PST - ppublish SO - Taiwan J Obstet Gynecol. 2015 Oct;54(5):588-91. doi: 10.1016/j.tjog.2015.08.019.