| 제목 |
Clinical Significance of Chromosomal Microarray in Infants and Toddler with Developmental Delay |
| 소속 |
Daegu Fatima Hospital, Department of Rehabilitation Medicine1, Ulsan University Hospital, Department of Rehabilitation Medicine2 |
| 저자 |
Zeeihn Lee1†, Sungwon Park1*, Donghwi Park2, ByungJoo Lee1 |
Introduction: Chromosomal microarrays (CMA) is a recently used method of genetic analysis that can examine gene copy number variations (CNVs) throughout the entire genome, because of its high sensitivity for submicroscopic deletions and duplications. However, its cost can be a burden to patient`s caregivers. Moreover, according to previous report, the diagnostic yield (pathogenic CNVs or VOUS-likely pathogenic) of CMA in infants with developmental delay (DD) is less than 10%. Finding the relationship between the results of CMA and clinical features of the patient could be helpful in reducing unnecessary CMA testing. Therefore, we examined the correlation between CMA results and various parameters, including risk factors of DD.
Methods: We included 59 patients who visited our hospital and performed CMA in complaint of developmental delay. We evaluated gender, age, body weight at birth, delivery method, perinatal history, parent’s age at birth and brain MRI findings along with CMA data. Using independent t-test or Mann Whitney U-test, depending on the results of the Kolmogorov-Smirnov test, the differences of clinical parameters were evaluated between groups according to CMA results.
Results: There was no statistical significant difference between pathogenic CNVs group vs VOUS-likely, benign, and normal CNVs group, except for brain MRI anomaly. In pathogenic CNVs group, the rate of infants with brain anomaly were significantly higher than VOUS-likely, benign, and normal CNVs group (p<0.05).
Conclusion: In conclusion, our research suggests that it might be helpful to recommend CMA study as soon as possible to DD infants with brain anomaly. However, further study with large number of infants has to be warranted to confirm the relationship between the clinical parameters and CMA results.
|
|
Figure 1. The results of chromosomal microarray in this study.
Figure 2. The prevalence of cardiac anomaly, autism spectrum disorder, facial dysmorphism, brain anomaly in Pathogenic and VOUS-likely pathogenic CNV groups vs. VOUS with no sub-classification, VOUS-likely benign, Benign, and Normal CNVs groups.
Figure 3. The prevalence of cardiac anomaly, autism spectrum disorder, facial dysmorphism, brain anomaly in Pathogenic and VOUS-likely pathogenic CNV groups, and VOUS with no sub-classification vs. VOUS-likely benign, Benign, and Normal CNVs groups.
|
![Fig [1].png](/workshop/view.php?abyear=201601&mode=img_view&src=%2Fupload%2Fworkshop%2F202002%2F20200717093358.2614.2.2.png){kind=link}
![Fig [2].png](/workshop/view.php?abyear=201601&mode=img_view&src=%2Fupload%2Fworkshop%2F202002%2F20200717093358.5010.4.9.png){kind=link}
![Fig [3].png](/workshop/view.php?abyear=201601&mode=img_view&src=%2Fupload%2Fworkshop%2F202002%2F20200717093358.868.3.5.png){kind=link}