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The discovery of the presence of fetal cells in maternal blood (Bianchi 1990; Ganshirt et al. 1994; Adkinson et al. 1994) has led to new approaches in non-invasive prenatal paternity testing. At Prenatal Genetics Center, we spent a number of years developing our genetic testing methods, and we were the first laboratory to offer the general public a non-invasive prenatal paternity testing option in 2001. Since fetal cells circulate among maternal cells in the mother’s blood, maternal blood samples can be used for non-invasive prenatal gender testing, as well as the diagnosis of paternally-inherited disorders.

Through the use of Y-chromosomal sequences that are unique to male fetuses as a genetic marker, a number of scientific groups were able to demonstrate that fetal cells are indeed present in the blood of pregnant women (Geifman-Holtzman et al. 1995). Using real-time quantitative polymerase chain reaction (PCR) technology, investigators have further demonstrated that fetal cells are present at relatively high fractional concentrations in maternal blood. This means that fetal cells can be detected in maternal blood using modern molecular technology. In fact, many groups have reported close to 100% sensitivity in the detection of fetal genetic material from maternal blood samples. Thus, fetal cells in maternal blood can be a source of fetal genetic material for non-invasive genetic tests (De La Cruz et al. 1995; Samura et al. 2000; Zhong et al 2001; Uitto et al. 2003; Sekizawa et al. 2007), such as for non-invasive prenatal paternity DNA testing (Wagner et al. 2009).

Take a look at this Comparison Table to learn the differences between non-invasive (blood test) and invasive (CVS or amniocentesis) prenatal paternity tests. 

References

Adkinson et al. Improved detection of fetal cells from maternal blood with polymerase chain reaction. Am. J. Obstetrics Gynecology 1994; 170: 952-955.

Bianchi et al. Isolation of fetal DNA from nucleated erythrocytes in maternal blood. Proc. Natl. Acad. Sci. 1990; 87:3279-3273..

De La Cruz et al. Prenatal diagnosis by use of fetal cells isolated from maternal blood. Am. J. Obstetrics Gynecology 1995; 173: 1354-1355.

Ganshirt et al. Fetal cells in maternal circulation throughout gestation. Lancet 1994; 343: 1038-1039.

Geifman-Holtzman et al. Detection fetal HLA-DQ alpha sequences in maternal blood: a gender-independent technique of fetal cells identification. Prenatal Diagnosis 1995; 15: 261-268.

Samura et al. Female fetal cells in maternal blood: use of DNA polymorphism to prove origin. Hum Genet 2000; 107: 28-32.

Sekizawa et al. Recent advances in non-invasive prenatal DNA diagnosis through analysis of maternal blood. J Obstet Gynaecol Res. 2007; 33:747-764.

Uitto et al. Probing the fetal genome: progress in non-invasive prenatal diagnosis. Trends in Molecular Medicine 2003; 9:339-343.

Wagner et al. Non-invasive prenatal paternity testing from maternal blood. Int J Legal Med 2009; 123:75–79.

Zhong et al. Prenatal identification of fetal genetic traits. Lancet 2001; 357: 310-311.

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