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Transcervical cells and the prenatal diagnosis of haemoglobin (Hb) mutations
Author(s) -
Cirigliano V,
Sherlock J,
Petrou M,
Ward Rht,
Rodeck C,
Adinolfi M
Publication year - 1999
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.1999.560503.x
Subject(s) - chorionic villus sampling , prenatal diagnosis , chorionic villi , polymerase chain reaction , karyotype , fetus , gestation , andrology , obstetrics , biology , chromosome , medicine , pathology , microbiology and biotechnology , genetics , gynecology , pregnancy , gene
Prenatal diagnoses of haemoglobin (Hb) mutations were performed using transcervical 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 (thalassaemia or HbS). Clumps of fetal cells were isolated by micromanipulation under an inverted microscope and aliquots of the extracted DNA tested separately for the presence of paternally derived chromosome markers and Hb mutations 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, was achieved in six out of ten cases.