title: [Prenatal diagnosis of hemoglobinopathies and thalassemias].
abstract: OBJECTIVE
  Thalassemias are the most common single-gene disorders in the world population and the most important health problem in several countries. The best program of prevention of new births is prenatal diagnosis. Here we gather the experience from 1996 of the Spanish Group of Erythropathology related to the prenatal diagnosis of hemoglobinopathies in Spain.
  
  
  METHODS
  36 couples carriers of beta-thalassemia or Hb S were studied. Fetal material was obtained by amniocentesis and BCV. The genotype was determined by molecular biology technologies.
  
  
  RESULTS
  We observed 3 spontaneous abortions (8.3%), 6 interruptions of pregnancy (16.7%) and a case of maternal contamination (2.8%). Prenatal diagnosis could be completed in 97.2% of the cases (35).
  
  
  CONCLUSIONS
  In our experience, with regards to hemoglobinopathies, it is essential to provide a good genetic advice in order to identify the molecular alteration in the progenitors before the first pregnancy. This would allow a prenatal diagnosis during the first quarter and, in case of a positive result, to perform an early interruption of the pregnancy without risks.
authors.affiliation: Servicio de Hematología, Hospital Clínico San Carlos, Madrid, España.
authors.forename: Paloma
authors.initials: P
authors.lastname: Ropero
authors.forename: Fernando Ataúlfo
authors.initials: FA
authors.lastname: González
authors.forename: Aurora
authors.initials: A
authors.lastname: Hernández
authors.forename: Henar
authors.initials: H
authors.lastname: Sánchez
authors.forename: Elena
authors.initials: E
authors.lastname: Cela
authors.forename: Ana
authors.initials: A
authors.lastname: Villegas
mesh_terms: D005260:Female; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics