Novel rapid molecular diagnosis of fetal chromosomal abnormalities associated with recurrent pregnancy loss
| Autor: | Mudan Lu, Hehua Tao, Yuefen Yang, Ye Tang, Jingying Xiang, Lan Yang, Qiaoxia Wang, Jianping Xiao, Canfeng Yang |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Waiting time Adult medicine.medical_specialty Abortion Habitual DNA Copy Number Variations Polyploidies Aneuploidy Sensitivity and Specificity 03 medical and health sciences 0302 clinical medicine Pregnancy medicine Humans Copy-number variation Gynecology Chromosome Aberrations Fetus 030219 obstetrics & reproductive medicine business.industry Obstetrics and Gynecology Karyotype General Medicine medicine.disease 030104 developmental biology medicine.anatomical_structure Chorionic Villi Sampling Karyotyping Chorionic villi Female business Multiplex Polymerase Chain Reaction |
| Zdroj: | Acta obstetricia et gynecologica Scandinavica. 95(12) |
| ISSN: | 1600-0412 |
| Popis: | Introduction Labor-intensive karyotyping is used as the reference standard diagnostic test to identify copy number variants (CNVs) in the fetal genome after recurrent pregnancy loss. Our aim was to present and evaluate a novel molecular assay called CNVplex 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, CNVplex 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 CNVplex were also measured. Results Diagnostic accuracy of CNVplex 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 CNVplex was similar to that of karyotyping. Both karyotyping and CNVplex assay detected 27 autosomal trisomies, three 45,X monosomies, and three polyploidies. CNVplex also detected additional novel structural abnormalities of the fetal genome. Compared with karyotyping, CNVplex 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 CNVplex 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 CNVplex is comparable to that of conventional karyotyping but it requires less waiting time and has lower cost. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|