title: Transcervical cells and the prenatal diagnosis of haemoglobin (Hb) mutations.
abstract: 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 haemoglobinopathies (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.
authors.affiliation: Department of Obstetrics and Gynaecology, University College London, UK.
authors.forename: V
authors.initials: V
authors.lastname: Cirigliano
authors.forename: J
authors.initials: J
authors.lastname: Sherlock
authors.forename: M
authors.initials: M
authors.lastname: Petrou
authors.forename: R H
authors.initials: RH
authors.lastname: Ward
authors.forename: C
authors.initials: C
authors.lastname: Rodeck
authors.forename: M
authors.initials: M
authors.lastname: Adinolfi
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis / Q000235:genetics*; D002584:Cervix Uteri / Q000166:cytology; D004252:DNA Mutational Analysis; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D005333:Fetus / Q000166:cytology; D006454:Hemoglobins / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D006454:Hemoglobins