Interlaboratory comparison of fetal male DNA detection from common maternal plasma samples by real-time PCR.

Background: Analysis of fetal DNA from maternal plasma by PCR offers great potential for noninvasive prenatal genetic diagnosis. To further evaluate this potential, we developed and validated a standard protocol to determine whether fetal DNA sequences could be reproducibly amplified and measured across multiple laboratories in a common set of specimens.

Methods: Each of five participating centers in a National Institute of Child Health and Human Development consortium collected 20 mL of peripheral blood from 20 pregnant women between 10 and 20 weeks of gestation.

Detecting fetal DNA from dried maternal blood spots: another step towards broad scale non-invasive prenatal genetic screening and feasible testing.

Both intact fetal cells and cell-free fetal DNA are present in the maternal circulation and have been used for non-invasive prenatal genetic diagnosis. However, broad clinical application awaits development of robust methods for collecting, transporting and enriching maternal blood samples to recover rare fetal cells. To circumvent this impediment, we have devised a reliable method of fetal DNA detection using dried maternal blood spots and real-time polymerase chain reaction.