Objective: To provide genetic information about the fetuses from carriers of Robertsonian (Rob) translocation and to explore the application value of extravillous trophoblasts (EVTs) cells collected from the cervical canal for prenatal diagnosis.
Method: Trophoblast retrieval and isolation from the cervix (TRIC) is an approach that non-invasively isolates homogeneous trophoblast cells. In this study, the EVT cells were collected from the cervix of 20 pregnant women between 5-7 weeks gestation. Thereafter, STR analysis and fluorescence in situ hybridization (FISH) were performed on these trophoblast cells.
Results: In 1 case (P5), we failed to collect the trophoblast cells, STR analysis showed maternal cell contamination in 4 cases, 6 cases were normal/balanced chromosome, and 9 cases were associated with unbalanced chromosome. The results of these 15 cases were consistent with those of villi FISH examination or cytogenetic analysis of cultured amniocytes.
Conclusion: The collection of fetal trophoblast cells from the cervix provides a feasible approach for prenatal diagnosis. Rob translocation homozygosity could be seen as a potential means of speciation in humans with 44 chromosomes.