SERVICE
By analyzing a portion of tissue from the miscarried fetus using next-generation sequencing (NGS), the genetic causes of miscarriage can be identified. This provides accurate information on the cause of miscarriage and offers genetic counseling to help prepare for the next pregnancy more quickly.
According to a study on chromosomal abnormality types and incidence rates in products of conception from natural miscarriages in Korea, the most frequently reported cause of miscarriage was fetal chromosomal aneuploidy.
Trisomy 16
Three copies of chromosome 16
Monosomy X
Single X chromosome
Trisomy 22
Three copies of chromosome 22
| Type of occurrence | Number of cases | Incidence rate (%) |
|---|---|---|
| Trisomy 16 | 34 | 13.3 |
| Monosomy X | 32 | 12.5 |
| Trisomy 22 | 23 | 9.0 |
| Trisomy 21 | 21 | 8.2 |
| Polyploidy | 21 | 8.2 |
| Trisomy 15 | 17 | 6.7 |
| Trisomy 18 | 9 | 3.5 |
| Trisomy 13 | 9 | 3.5 |
| Trisomy 9 | 8 | 3.1 |
| Others | ... | ... |
| Total | 255 | 100.0 |
More than 80% of spontaneous miscarriages
occur within the first 12 weeks of pregnancy.
The majority are reported to be due to
fetal chromosomal abnormalities: 54.3% (255/470 cases).
Genetic factors
Immune factors
Endocrine factors
Anatomic factors
Lifestyle factors
Infections
Unknown causes
Han SH et al. J Genet Med. 2011.
Karyotyping, which checks chromosomal structure through cell culture, often shows low detection rates for chromosomal abnormalities due to issues such as cell contamination, culture failure, and methodological limitations. As a result, the cause of miscarriage often cannot be identified.
1) 1. Cell contamination: overgrowth of maternal cells, bacterial or microbial contamination
2. Culture failure: failure of cell engraftment
3. Test limitations: high rate of inconclusive results due to culture failure
GenoFind, on the other hand, uses high-resolution next-generation sequencing (NGS) without cell culture to analyze the entire genome, providing a faster and more accurate method for detecting chromosomal aneuploidies.
| Test name | Karyotyping | NGS |
|---|---|---|
| Method | Karyotype analysis | Next-generation sequencing |
| Cell culture | O | X |
| Turnaround time | More than 3 weeks | Within 2 weeks |
| Sensitivity | Low | Very high |
| Analytical resolution | Low (Mb level) | High (bp level) |
 |
 |
“GenoFind is a test that analyzes the cause of miscarriage by detecting chromosomal aneuploidies in products of conception using NGS technology.”
Products of conception
Secure delivery by a certified courier service
Next-generation sequencing (NGS) analysis
Detection of chromosomal abnormalities in the miscarried fetus
| Test name | Chromosomal analysis of products of conception (POC) |
|---|---|
| Method | Next-generation sequencing (NGS) (NGS, Next Generation Sequencing) |
| Test items | Products of conception (POC) (POC, Products of Conception) |
| Specimen collection | Sterile container: 15 mL conical tube Sterile solution: 1 mL normal saline |
| Testing period | When tissue from the miscarried fetus can be separated |
| Turnaround time | Within 14 days (from the date of receipt) |
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