Transcervical cells and the prenatal diagnosis of haemoglobin (Hb) mutations

Prenatal diagnoses of haemoglobin (Hb) mutations were performed using trans cervical cells, retrieved by aspiration from the endocervical canal of ten selected pregnant women at about 10 weeks of gestation, prior to chorionic villus sampling (CVS). Both parents were carriers of haemoglobinopaties (th alassaemia or HbS). Clumps of fetal cells were isolated by micromanipulatio n under an inverted microscope and aliquots of the extracted DNA tested sep arately for the presence of paternally derived chromosome markers and Hb mu tations by quantitative fluorescent polymerase chain reaction (PCR). The correct prenatal diagnosis of Hb diseases, using selected single clumps of trophoblastic cellular elements free of maternal contaminating cells, w as achieved in six out of ten cases.