title: Embryo-fetal erythroid cell selection from celomic fluid allows earlier prenatal diagnosis of hemoglobinopathies.
abstract: OBJECTIVE
  Celocentesis, which involves aspiration of celomic fluid at 7-9 weeks' gestation, can potentially provide early prenatal diagnosis of single-gene disorders. The main barrier to wide acceptability of this technique is contamination of the sample by maternal cells. This problem can be overcome through selection of embryo-fetal erythroid precursors, which are found in celomatic fluid.
  
  
  METHODS
  Embryo-fetal erythroid precursors were selected by an anti-CD71 MicroBeads method or by direct micromanipulator pickup of the cells selected on the basis of their morphology.
  
  
  RESULTS
  In our series of 302 singleton pregnancies at high risk for hemoglobinopathies, Celocentesis provided a sample of celomic fluid in all cases. In 100 (33.1%) samples, maternal contamination was absent or very low (< 5%), and unambiguous results were obtained without the need for any preliminary procedures. In 160 (53%) cases, the contamination was between 5% and 60%, and selection of embryo-fetal erythroid precursors was successfully achieved by anti-CD71 MicroBeads. In 42 (13.9%) cases, the contamination was > 60%, and selection of embryo-fetal cells was achieved by micromanipulation. In all 302 cases, there was concordance between DNA obtained from celomic fluid samples and fetal or newborn DNA.
  
  
  CONCLUSIONS
  Celocentesis can be a reliable procedure for earlier prenatal diagnosis of fetal monogenic diseases.
authors.affiliation: Unit of Hematology for Rare Diseases of Blood and Blood-forming Organs, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Palermo, Italy.
authors.forename: Antonino
authors.initials: A
authors.lastname: Giambona
authors.affiliation: Unit of Prenatal Diagnosis, Hospital Villa Sofia Cervello, Palermo, Italy.
authors.forename: Gianfranca
authors.initials: G
authors.lastname: Damiani
authors.affiliation: Unit of Hematology for Rare Diseases of Blood and Blood-forming Organs, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Palermo, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Leto
authors.affiliation: Unit of Prenatal Diagnosis, Hospital Villa Sofia Cervello, Palermo, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Jakil
authors.affiliation: Unit of Hematology for Rare Diseases of Blood and Blood-forming Organs, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Palermo, Italy.
authors.forename: Disma
authors.initials: D
authors.lastname: Renda
authors.affiliation: Unit of Prenatal Diagnosis, Hospital Villa Sofia Cervello, Palermo, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Cigna
authors.affiliation: Unit of Prenatal Diagnosis, Hospital Villa Sofia Cervello, Palermo, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Schillaci
authors.affiliation: Unit of Prenatal Diagnosis, Hospital Villa Sofia Cervello, Palermo, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Picciotto
authors.affiliation: Harris Birthright Research Center for Fetal Medicine, King's College, London, UK.
authors.forename: Kypros H
authors.initials: KH
authors.lastname: Nicolaides
authors.affiliation: Unit of Hematology for Rare Diseases of Blood and Blood-forming Organs, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Palermo, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Passarello
authors.affiliation: Obstetrics and Gynecology, Ioannina University Hospital, Ioannina, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Makrydimas
authors.affiliation: Unit of Hematology for Rare Diseases of Blood and Blood-forming Organs, Regional Reference Laboratory for Screening and Prenatal Diagnosis of Hemoglobinopathies, Palermo, Italy.
authors.forename: Aurelio
authors.initials: A
authors.lastname: Maggio
mesh_terms: D000755:Anemia, Sickle Cell / Q000175:diagnosis* / Q000378:metabolism; D015415:Biomarkers / Q000378:metabolism; D041905:Erythroid Cells / Q000378:metabolism*; D005260:Female; D006801:Humans; D008858:Microscopy, Phase-Contrast; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000378:metabolism
chemical_list: D015415:Biomarkers