Table 4 Clinical application of FNRBCs

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