Invasive |
Wide range of clinical applications |
Invasive and risky |
[5, 6] |
Amniocentesis |
Gold standard; |
Invasive means; |
[5] |
For detection of fetal chromosomal abnormalities |
Risk of abortion for pregnant women |
|
Chorionic villi |
For karyotyping and genetic diagnosis; |
Invasive, with risk of preterm delivery, intracavitary infection |
[6] |
Sampling |
Detectable at 6–9 weeks |
and miscarriage; |
|
|
Contaminated samples seriously affect the test accuracy |
|
Non-invasive |
Quick, non-invasive, and convenient |
Less clinical application at present |
[4, 7] |
Serum Testing |
Non-invasive, detectable in early pregnancy; |
Low sensitivity and specificity; |
[8] |
For Down syndrome and neurotuberculosis screening |
Only as an aid, need to have invasive methods to confirm |
|
Ultrasound |
Non-invasive, Detect thickness of the nuchal translucency |
A complementary tool, more limited in detecting fetal abnormalities |
[9] |
to rule out chromosomal abnormalities |
|
|
CffDNA |
Non-invasive and can be detected as early as 4 weeks; |
The minimal, mosaic phenomenon, challenge to detect; |
[14–17] |
Contains fetal genetic information for fetal aneuploidy screening |
Requires invasive means for confirmation |
|
FNRBCs |
Contain the whole genetic information of the fetus; |
Low quantity |
[23, 25–27] |
Have specific biomarkers (CD71、CD147、GPA); |
|
|
A short life cycle, and not affected by the last prenatal examination; |
|
|
Can be detected at 6 weeks of gestation |
|
|