[Prenatal diagnosis of hemoglobinopathies and thalassemias].
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.
Ropero
Paloma
P
Servicio de Hematología, Hospital Clínico San Carlos, Madrid, España.
González
Fernando Ataúlfo
FA
Hernández
Aurora
A
Sánchez
Henar
H
Cela
Elena
E
Villegas
Ana
A
D005260:Female; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D011296:Prenatal Diagnosis; D013789:Thalassemia / Q000175:diagnosis* / Q000235:genetics