Fetal Aneuploidy Detection by Maternal Plasma DNA Sequencing

Judith Walsh, MD, MPH



In This Article


In conclusion, ccfDNA is a promising new technology with high sensitivity and specificity for the prediction of fetal aneuploidy when evaluated in high risk women. To date, no studies have evaluated the outcomes of incorporating ccfDNA into existing prenatal noninvasive testing strategies nor have any studies evaluated it as an alternative to existing strategies. Future studies will certainly evaluate its role as part of current standard of care noninvasive screening strategies, but to date this has not been done. Cell free fetal DNA for the diagnosis of fetal aneuploidy is a promising technology, but it is currently not ready for routine use in clinical practice, either in high risk or average risk women.