Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors

Prenat Diagn. 2012 Dec;32(13):1225-32. doi: 10.1002/pd.4002. Epub 2012 Nov 9.


Objective: To report the performance of massively parallel sequencing (MPS) based prenatal noninvasive fetal trisomy test based on cell-free DNA sequencing from maternal plasma in a routine clinical setting in China.

Method: The MPS-based test was offered as a prenatal screening test for trisomies 21 and 18 to pregnant women in 49 medical centers over 2 years. A total of 11,263 participants were recruited and the MPS-based test was performed in 11,105 pregnancies. Fetal outcome data were obtained after the expected date of confinement.

Results: One hundred ninety cases were classified as positive, including 143 cases of trisomy 21 and 47 cases of trisomy 18. With the karyotyping results and the feedback of fetal outcome data, we observed one false positive case of trisomy 21, one false positive case of trisomy 18 and no false negative cases, indicating 100% sensitivity and 99.96% specificity for the detection of trisomies 21 and 18.

Conclusion: Our large-scale multicenter study proved that the MPS-based test is of high sensitivity and specificity in detecting fetal trisomies 21 and 18. The introduction of this screening test into a routine clinical setting could avoid about 98% of invasive prenatal diagnostic procedures.

Publication types

  • Clinical Trial
  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • China / epidemiology
  • Chromosomes, Human, Pair 18*
  • Down Syndrome / diagnosis*
  • Down Syndrome / epidemiology
  • False Positive Reactions
  • Female
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Maternal Serum Screening Tests*
  • Middle Aged
  • Pregnancy
  • Prospective Studies
  • Sensitivity and Specificity
  • Sequence Analysis, DNA
  • Trisomy / diagnosis*
  • Workflow
  • Young Adult