| Autor: |
Yunfang Shi, Xiaozhou Li, Duan Ju, Yan Li, Xiuling Zhang, Ying Zhang |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology. 42(6) |
| ISSN: |
1364-6893 |
| Popis: |
In this study, we presented a case series to highlight the chromosomal microarray (CMA) in identifying chromosomal abnormalities which is undetectable by conventional karyotyping or known abnormal chromosomes without clear diagnosis. Extensive studies showed that CMA was gradually accepted as a prenatal invasive testing during pregnancy. The aim of this study was to evaluate the diagnostic effect of CMA for foetuses with abnormal chromosomes unrecognised by conventional karyotyping. Pregnant women who need prenatal diagnosis with all indications were enrolled in this study. For aberrant cytogenetic findings that cannot be defined by routine karyotyping, single nucleotide polymorphism array (SNP-array) was used. Six cases with abnormal karyotype were included in the study. With higher resolution of translocation breakpoints, CMA could detect smaller chromosomal imbalances that were undetectable by karyotyping. This study highlights the value of CMA for the detection of submicroscopic abnormalities in foetuses that cannot be detected by conventional karyotyping. Impact Statement |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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