Prenatal diagnosis of inherited blood diseases
Weatherall D.
Many common genetic disorders of the blood can be identified in utero, either by fetal blood sampling, biochemical analysis of amniotic fluid cells or directly by studying DNA obtained from amniotic fluid cells or chorion biopsy. With the development of gene probes for most of the important genetic disorders of the blood there will be a gradual transition from fetal blood sampling and amniocentesis to chorion biopsy as the major approach to prenatal diagnosis of haematological disorders. Since the carrier states for many of these conditions can be identified at the antenatal clinic by a careful family history and a few relatively simple blood tests the outlook for prevention of many of the important genetic disorders of the blood is extremely promising.