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Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature reviewopen accessTriploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review

Other Titles
Triploidy that escaped diagnosis using chromosomal microarray testing in early pregnancy loss: Two cases and a literature review
Authors
박지은박지권강민영조현철조인애백종철
Issue Date
2019
Publisher
대한의학유전학회
Keywords
Comparative genomic hybridization; Microarray analysis; Karyotyping; Abortion; spontaneous; Triploidy
Citation
Journal of Genetic Medicine, v.16, no.2, pp.76 - 80
Indexed
KCI
Journal Title
Journal of Genetic Medicine
Volume
16
Number
2
Start Page
76
End Page
80
URI
https://scholarworks.bwise.kr/gnu/handle/sw.gnu/9978
DOI
10.5734/JGM.2019.16.2.76
ISSN
1226-1769
Abstract
About 15% to 20% of all clinically recognized pregnancies result in spontaneous abortion or miscarriage, and chromosomal anomalies can be identiἀed in up to 50% of ἀrst trimester miscarriages. Chromosomal microarray analysis (CMA) is currently considered ἀrst-tier testing for detecting fetal chromosomal abnormalities and is supported by the absence of cell culture fail-ure or erroneous results due to cell contamination in pregnancy loss. Triploidy is a lethal chromosome number abnormality characterized by an extra haploid set of chromosomes. Triploidy is one of the most common chromosomal aberrations in ἀrst trimester spontaneous abortions. Here, we report two cases of triploidy abortion that were not detected using array compara-tive genomic hybridization-based CMA. The aim of this report was to remind clinicians of the limitations of chromosomal testing and the misdiagnosis that can result from biased test selection.
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