Noninvasive detection of fetal sex: the laboratory diagnostician's view

Toward the end of the twentieth century it was discovered that cell-free fetal DNA sequences could be detected in maternal blood plasma. Initially, Y-chromosome sequences originating from male fetuses were targeted in cell-free DNA extracted from maternal plasma in order to demonstrate proof of this concept towards the development of noninvasive prenatal diagnosis methods. Clinical application of this approach is now possible. Fetal sex can be detected through a procedure that is noninvasive with respect to the fetus. Specifically, the presence of Y-chromosome sequences in maternal blood plasma indicates that the fetus is male, whereas lack of a signal will indicate that the fetus is female. Fetal sex can be detected very early, from at least the 7th week of pregnancy (and even earlier, according to several studies), about two months before this information is available through ultrasound scanning. Although the controversial issue of fetal sexing is not new, it is expected that with the availability of an accurate noninvasive test, public interest will rise. It is therefore imperative that an authorized committee of experts in each country generates an official policy regarding application of the test. Copyright © 2006 John Wiley & Sons, Ltd.     

Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?

Recent reports have indicated that digital PCR may be useful for the noninvasive detection of fetal aneuploidies by the analysis of cell-free DNA and RNA in maternal plasma or serum. In this review we provide an insight into the underlying technology and its previous application in the determination of the allelic frequencies of oncogenic alterations in cancer specimens. We also provide an indication of how this new technology may prove useful for the detection of fetal aneuploidies and single gene Mendelian disorders. Copyright © 2008 John Wiley & Sons, Ltd.     

Maternal platelet size as a marker for fetal trisomies 18 and 13

Maternal and fetal platelet size and glycoprotein expression were measured in 14 pregnancies complicated by fetal aneuploidy between 20 and 24 weeks' gestation. Flow cytometry was used to determine platelet size and surface glycoprotein Ib (GPIb) and GPIIIa expression both before and after stimulation with adenosine diphosphate (ADP). The data were compared with results obtained from 35 normal paired maternal and fetal controls. In fetuses affected with trisomies 18 and 13, but not trisomy 21, the maternal and fetal platelet sizes were significantly higher than those of the normal controls. Furthermore, the increase in fetal platelet size was significantly associated with the increase in maternal platelet size. Increase in maternal platelet size may be of potential value as a marker for fetal trisomies 18 and 13.