Overview and Historical Perspective of Prenatal Diagnosis

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This chapter presents overview and historical perspective of prenatal diagnosis. The nature of genetic counseling has changed from a recital of statistical risks for disease to the ability to predict accurately whether a fetus is normal or affected as to the abnormality for which it is at risk. The development of narrow-bore fetoscopes has led to direct inspection of fetuses for certain types of anomalies. The application of biochemical techniques and those of molecular biology to such fetal blood specimens has already produced prenatal diagnoses of various hemoglobinopathies. The study of fetal white blood cells from these specimens is promising for the detection of certain immune-deficiency diseases and leukocyte abnormalities. The techniques of modem molecular genetics have been applied to the DNA of amniotic fluid cells. It is found that with the highly sensitive methods, several forms of thalassemia and, in certain families, sickle cell anemia have become amenable to rapid diagnosis by the study of the uncultured amniotic fluid cells.

Original languageEnglish
Pages (from-to)1-9
Number of pages9
JournalMethods in Cell Biology
Issue numberC
StatePublished - 1 Jan 1982


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