In:
Acta Obstetricia et Gynecologica Scandinavica, Wiley, Vol. 95, No. 12 ( 2016-12), p. 1433-1440
Abstract:
Labor‐intensive karyotyping is used as the reference standard diagnostic test to identify copy number variants ( CNV s) in the fetal genome after recurrent pregnancy loss. Our aim was to present and evaluate a novel molecular assay called CNV plex that could potentially be used as an alternative method to conventional karyotyping for diagnosing fetal chromosomal abnormalities associated with recurrent pregnancy loss. Material and methods Using karyotyping as the reference standard, CNV plex was performed to identify fetal chromosomal abnormalities in the chorionic villus samples from 76 women experiencing at least two pregnancy losses. Its diagnostic accuracy, sensitivity, and specificity were evaluated to detect aneuploidies associated with recurrent pregnancy loss. Turnaround time and costs of CNV plex were also measured. Results Diagnostic accuracy of CNV plex in aneuploidies that are associated with recurrent pregnancy loss was 1.0 (95% CI 0.94–1.0), sensitivity was 100% (95% CI 0.89–1.0), and specificity was 100% (95% CI 0.875–1.0). Diagnostic accuracy of CNV plex was similar to that of karyotyping. Both karyotyping and CNV plex assay detected 27 autosomal trisomies, three 45,X monosomies, and three polyploidies. CNV plex also detected additional novel structural abnormalities of the fetal genome. Compared with karyotyping, CNV plex significantly ( p = 0.001) reduced the waiting time by 13.98 days (95% CI 13.88–14.08) and the cost by US $241 (95% CI 234.53–247.47). Conclusions CNV plex is a novel effective assay for diagnosing fetal chromosomal abnormalities associated with recurrent pregnancy loss. In the routine clinical work‐up of recurrent pregnancy loss, diagnostic accuracy of CNV plex is comparable to that of conventional karyotyping but it requires less waiting time and has lower cost.
Type of Medium:
Online Resource
ISSN:
0001-6349
,
1600-0412
DOI:
10.1111/aogs.2016.95.issue-12
Language:
English
Publisher:
Wiley
Publication Date:
2016
detail.hit.zdb_id:
2024554-3
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