Table 1 Strengths and Weaknesses of Prenatal Diagnosis Methods

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;

[14,15,16,17]

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, 25,26,27]

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