Both the specialty of pediatrics and the children it serves have benefited from the recent advances in biomedical science and technology. Each year brings new triumphs—but regrettably also brings tragedies, which can be defined as a greater discrepancy between the gains for some children and the status quo (or worse) for others.
First, the triumphs. Advances in molecular genetics are impacting on clinical pediatrics. The gene for cystic fibrosis has been located on chromosome 7 and antenatal diagnosis, using linked DNA probes of fetal DNA from chorionic villi sampling, is now possible in more than two thirds of parents with an affected child. Sickle cell anemia can also be diagnosed before birth; a new restrictive enzyme technique can make the diagnosis in a day.1 Recent gene mapping studies have shown that the gene frequency of nonclassical adrenal hyperplasia is more common than cystic fibrosis in white populations.2 Gene replacement
Heins M. Pediatrics. JAMA. 1989;261(19):2874–2875. doi:10.1001/jama.1989.03420190150052
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