Table 4.
Clinical application of FNRBCs
| Technology | Variation Type | Merits | Demerits | Fetal Diseases | References |
|---|---|---|---|---|---|
| FISH | Chromosome multicopy | Simple operation; | Fetal origin identification is | T13/T18/T21 | [39] |
| number variation | Fetal origin identification |
applicable to male fetuses; Male fetuses |
|||
| Results are influenced by cell | |||||
| purity | |||||
| STR | Chromosome multicopy | Fetal origin identification; | Fetal origin identification is more | T18/T21 | [187, 189, 190] |
| number variation | Not limited to male fetuses; | complex | |||
| High sensitivity | |||||
| PCR | SNVs | High sensitivity; | High demanding; | Sickle cell anemia; | [40] |
| High specificity; | Prone to false positives | ABO blood group; | [28] | ||
| Simple and fast | T18/T21 | [194] | |||
| ACGH | CNVs of genes | High resolution; | Detection of some unknown | T13/T18/T21; | [39, 201] |
| (Chromosomal multi-copy | Without culture; | significance of CNVs | Rearrangement variants | [198] | |
| Number, variation, | |||||
| microdeletions, | |||||
| microduplications,SVs) | |||||
| Chromosomally | |||||
| unbalanced variants | |||||
| NGS | CNVs of whole genes | High-throughput; | High cost; | T18/T21/MMS; | [42, 212] |
| Chromosomally | Comprehensive Analysis | Detection of some unknown | Congenital | [41] | |
| balanced variants | significance of CNVs | Deafness | |||
| WGS | CNVs of whole genes | High-throughput; | High cost; | Single gene | [222] |
| (SNVs/In Dels/CNVs/SVs) | More comprehensive | Detection of some unknown | disease | ||
| genetic information | significance of CNVs; | ||||
| Low coverage will miss variants | |||||
| WES | CNVs of whole exon genes | High-throughput; | High cost; | 13/18/21 | [30] |
| (SNVs/In Dels/CNVs/SVs) | Small sequencing range | Detection of SNVs is not as | 18q21s | ||
| reliable as WGS | microdeletion |