Taiwanese Journal of Obstetrics & Gynecology (Oct 2015)

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

  • Sheng-Yuan Su,
  • Ho-Yen Chueh,
  • Ching-Pei Li,
  • Yao-Lung Chang,
  • Shuenn-Dyh Chang,
  • Chih-Ping Chen

DOI
https://doi.org/10.1016/j.tjog.2015.08.019
Journal volume & issue
Vol. 54, no. 5
pp. 588 – 591

Abstract

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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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