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Interphase fluorescence in situ hybridization assisting in prenatal counseling for amniocentesis karyotyping-detected fetal mosaicism. | LitMetric

Interphase fluorescence in situ hybridization assisting in prenatal counseling for amniocentesis karyotyping-detected fetal mosaicism.

Taiwan J Obstet Gynecol

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.

Published: October 2015

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.

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http://dx.doi.org/10.1016/j.tjog.2015.08.019DOI Listing

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