Endocervical fetal trophoblast for prenatal genetic diagnosis

Abstract

Purpose of review: For over a decade, methods of first-trimester, noninvasive prenatal genetic diagnosis have been actively pursued by many investigators. Isolation of fetal trophoblast from endocervical specimens remains an attractive approach, given the greater numbers of fetal cells than in maternal blood and the better potential for fetal-cell identification based on markers specific for a single cell type (trophoblasts).

Recent findings: Current studies demonstrate feasibility in identification and molecular analysis of fetal trophoblast cells for prenatal genetic testing. Sampling methods involving lavage, cytobrush, or aspiration of cervical specimens, however, have limitations in the recovery of trophoblasts.

Summary: Clinical applications await further systematic studies to determine safety and accuracy in recovery.