In this multicenter study of first-trimester screening for trisomies 21 and 18, a combination of maternal age, maternal levels of free human chorionic gonadotropin and pregnancy-associated plasma protein A, and ultrasonographic measurement of fetal nuchal translucency detected 78.7 percent of fetuses with trisomy 21, with a false positive rate of 5 percent. Such screening was also highly sensitive and specific for the identification of fetuses with trisomy 18.

Use of this combined screening approach during the first trimester has good sensitivity and an acceptable false positive rate for identifying fetuses with trisomy 21 or 18.

These investigators followed a large birth cohort with the use of questionnaires, lung-function tests, and allergy skin tests from the age of 3 to 26 years. Almost three quarters of the study participants had wheezing at one point in the follow-up, and 15 percent had wheezing at all points in the follow-up.

These data show that asthma begins in childhood and persists in many cases. Interventions to modify asthma may need to target the very young.

Measurement of the transcripts of BCR-ABL, the key molecular abnormality in chronic myeloid leukemia (CML), provides an estimate of the burden of leukemic cells in a given patient. A profound reduction in blood levels of BCR-ABL transcripts was much more frequent among patients treated with imatinib than among those treated with interferon alfa plus cytarabine.

Imatinib has been found to be superior to interferon plus cytarabine as a treatment for CML. This study shows that imatinib has greater effects on the key molecular abnormality of CML.

A small fraction of patients with cystic fibrosis have a genetic defect that introduces a premature stop codon into the CFTR gene; this results in a truncated protein that does not fulfill its normal biologic function.

Topical application of gentamicin can correct the defect in CFTR caused by premature stop codons. This study paves the way for a long-term randomized treatment trial in patients with this form of cystic fibrosis.

A healthy, sexually active, 35-year-old woman presents for advice about the use of oral contraceptives. She does not smoke cigarettes and has no personal or family history of venous thromboembolism, myocardial infarction, or stroke. Her blood pressure is 120/80 mm Hg. Should an oral contraceptive be prescribed, and if so, how should a formulation be chosen?

An extraordinary series of discoveries about chronic myeloid leukemia (CML) has made this disease a model of the way in which bench and bedside research can unite and culminate in clinically important advances. This review brings the reader up to date on recent advances in understanding the biology of CML and how they have changed the management of the disease.

A 62-year-old woman with a history of acute myelogenous leukemia, who had undergone transplantation of T-cell–depleted allogeneic bone marrow two years earlier, was admitted to the hospital because of an elevated bilirubin level that was thought to be secondary to graft-versus-host disease. Her serum sodium level was 124 mmol per liter.