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. 2022 Dec 30;20:546. doi: 10.1186/s12951-022-01749-3

Table 1.

Strengths and Weaknesses of Prenatal Diagnosis Methods

Methods Strengths Weaknesses References
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; [1417]
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, 2527]
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