Accuracy of maternal serum free fetal DNA for prenatal diagnosis of chromosomal abnormalities：a systematic review

Abstract:

Objective：To evaluate the accuracy of maternal serum free fetal DNA used for noninvasive prenatal diagnosis of chromoso－mal abnormalities. Methods：Medline database was searched with keywords of ‘prenatal’ and ‘aneuploidy’ and ‘noninvasive’ or ‘non-invasive’ and ‘maternal’ by QUADAS tool，then the eligible full-texts were analyzed. Results：Four articles complied with the QUADAS standards. Noninvasive prenatal diagnosis was performed on 4 167 trisomy-21 syndrome cases，with sensitivity of 100.00% and specificity of 99.30%；non-invasive prenatal diagnosis was performed on 3 455 trisomy-18 syndrome cases，with sensitivity of 97.40% and specificity of 99.95%. Conclusion：Maternal serum fetal free DNA used for noninvasive prenatal diagnosis of chromosomal abnormalities is of high accuracy