Prenatal diagnosis of hemoglobinopathies.
Techniques are currently available at a few specialized centers for the antenatal detection of hemoglobinopathies such as beta thalassemia and sickle cell anemia. The risks are not yet clearly defined, but it seems reasonable to suggest that about 90 per cent of families may obtain useful information about the genotype of their fetus. Obtaining fetal blood as well as analyzing the sample requires considerable experience and skill. These factors continue to limit the availability of this procedure.
D000649:Amniocentesis; D000755:Anemia, Sickle Cell / Q000175:diagnosis; D005260:Female; D005312:Fetal Blood / Q000378:metabolism; D006441:Hemoglobin A / Q000378:metabolism; D006453:Hemoglobinopathies / Q000175:diagnosis*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk; D013789:Thalassemia / Q000175:diagnosis
D006441:Hemoglobin A