Prenatal Diagnosis — When and How?

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Abstract
Advances in prenatal diagnosis provide new opportunities for patients and their physicians to distinguish the abnormal from the normal fetus. Demands from women to learn about their fetuses earlier in pregnancy have pushed investigators to identify new methods that are useful in the first trimester. The prenatal diagnosis of many disorders, such as the fragile X syndrome, cystic fibrosis, hemoglobinopathies, inborn errors of metabolism, and hundreds of mapped inherited syndromes, is possible today with the use of molecular techniques. However, the detection of Down's syndrome is still the primary reason women seek prenatal diagnosis. Parental decisions on how to respond . . .