In Utero Diagnosis of Hemoglobinopathies

Abstract

IN recent years rapid progress has been made in the antenatal diagnosis of inherited disease. The obstetrician and clinical geneticist are now provided with information presenting new options to prospective parents faced with the risk of an abnormal child. This progress has resulted largely from the ability of the physician safely to obtain amniotic fluid and constituent cells from the early mid-trimester pregnancy. On the basis of studies performed on this material, sex, chromosomal abnormalities and certain inborn errors of metabolism in the fetus genetically at risk can be predicted.¹ Unfortunately, amniotic fluid does not provide the information to diagnose . . .