title: Interphase fluorescence in situ hybridization assisting in prenatal counseling for amniocentesis karyotyping-detected fetal mosaicism.
abstract: OBJECTIVE
  To evaluate how interphase fluorescence in situ hybridization (FISH) played a role in genetic counseling when encountering prenatally detected fetal mosaicism cases.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Sheng-Yuan
authors.initials: SY
authors.lastname: Su
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Ho-Yen
authors.initials: HY
authors.lastname: Chueh
authors.affiliation: Cytogenetic Laboratory, Linkou Chang Gung Memorial Hospital, Taoyuan, Taiwan.
authors.forename: Ching-Pei
authors.initials: CP
authors.lastname: Li
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Taoyuan, Taiwan.
authors.forename: Yao-Lung
authors.initials: YL
authors.lastname: Chang
authors.affiliation: Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Lin-Kou Medical Center, Chang Gung University, Taoyuan, Taiwan. Electronic address: gene@cgmh.org.tw.
authors.forename: Shuenn-Dyh
authors.initials: SD
authors.lastname: Chang
authors.affiliation: 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.
authors.forename: Chih-Ping
authors.initials: CP
authors.lastname: Chen
mesh_terms: D000328:Adult; D000649:Amniocentesis / Q000379:methods*; D000653:Amniotic Fluid / Q000166:cytology*; D055028:Comparative Genomic Hybridization; D005260:Female; D005817:Genetic Counseling / Q000379:methods*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007399:Interphase; D007621:Karyotyping / Q000379:methods; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics
keywords: counseling; interphase fluorescence in situ hybridization; karyotype; mosaicism