Fetal cells in maternal blood for prenatal diagnosis.

ABSTRACT

Advances in molecular genetics have led to prenatal DNA diagnosis, using either invasive or noninvasive approach. Fetal cells are one of the sources for prenatal diagnosis. Standard prenatal genetic diagnosis currently involves chorion villus sampling (CVS) or amniocentesis, which are invasive techniques. Noninvasive methods such as maternal serum biochemical screening (triple markers) in combination with ultrasonography can now detect a large percentage of chromosomal and congenital anomalies. However their lack of optimal specificity and sensitivity compels the use of invasive techniques, which pose a small but significant risk of pregnancy loss. The presence of fetal cells in maternal circulation as early as 6 weeks of gestation has opened new avenues of noninvasive approach to prenatal diagnosis in identifying successfully both Chromosome and molecular genetic abnormalities. Several attempts have been made to detect and retrieve fetal nucleated cells including nucleated erythrocytes (NRBCs), leucocytes and trophoblasts in maternal blood. A number of clinical and laboratory studies are continuing throughout the world to determine the feasibility of isolation of fetal cells from maternal blood and its subsequent use in genetic diagnosis by FISH and PCR technology. This article thus reviews the latest literature on fetal cells from maternal blood with an intention of pursuing research with this novel noninvasive approach, which is the need of today in India.