[Detection of fetal cells in maternal blood: myth or reality?]

Fetal cells exist in maternal blood and can be utilized for prenatal diagnosis. These cells are present from the sixth week of gestation, with frequency increasing as gestation advances, to many years after the birth. Enrichment of trophoblast cells, erythroblasts and lymphocytes was performed with various density gradient techniques and either magnetic activated or fluorescent activated sorting techniques. The abnormalities were detected by fluorescent in-situ hybridation (FISH) with chromosome-specific DNA probes for the detection of trisomy 21, trisomy 18, Klinefelter syndrome 47 XXY, or by polymerase chain reaction (PCR) for the detection of fetal sex, certain Mendelian disorders (as beta-globin mutations), HLA polymorphisms and fetal Rhesus D blood type. However others studies were necessary to determine the sensitivity and specificity of this technique as a noninvasive alternative to conventional methods of prenatal cytogenetic diagnosis.