Advances in pediatric medicine encompass new knowledge of the basic sciences, new disease definition and diagnostic methods, improvement and innovation in therapy, and a general increase in our knowledge of systems of health care provision. This compilation reflects the consensus of many in pediatrics whose advice I sought, although, because of space limitations, not all suggested and important advances can be included here.
Prenatal identification of the chromosome abnormality believed to be responsible for cystic fibrosis has been reported.1,2 First-trimester diagnosis in four families and second-trimester diagnosis in one resulted from hybridization of fetal DNA prepared from chorionic villi with tightly linked DNA probes. Such techniques may be used for other disorders, including histiocytoses, hemophilia, muscular dystrophy, and phenylketonuria. In fact, a recent report used a similar molecular biologic technique, enzymatic amplification—oligonucleotide restriction analysis, to establish rapidly the prenatal diagnosis of sickle cell anemia.3 A single nucleotide mismatch
Fulginiti VA. Pediatrics. JAMA. 1987;258(16):2263-2265. doi:10.1001/jama.1987.03400160117031