Update on newborn screening for cystic fibrosis.

PURPOSE OF REVIEW

Cystic fibrosis (CF) is the most common lethal genetic disorder in the United States to be identified in childhood. In November 2003 the US Cystic Fibrosis Foundation and the Centers for Disease Control and Prevention convened an expert panel to review the indications for CF newborn screening. In this review we discuss the information during the year leading up to this meeting as well as publications since the meeting.

RECENT FINDINGS

During the past several years an increasing number of CF patients have been diagnosed with newborn screening. These patients have demonstrated several benefits to screening while also uncovering new challenges. Health benefits have included improved nutrition persisting for many years and the avoidance of nutritional complications. Early identification has also meant that these often clinically healthy infants are being followed in CF centers for care. This has added to the need for avoiding infection risks to which these patients might not have otherwise been exposed. Psychosocial benefits include the avoidance of stress due to delayed diagnosis as well as assistance with family planning. Psychosocial challenges include carrier identification and detection of patients with mild disease or without a clear diagnosis.

SUMMARY

Although no study has definitively shown reduced lung disease or prolonged survival in CF patients detected by newborn screening, the general consensus is that improved nutrition and cognitive potential, in addition to the reduced costs for hospitalization and intensive therapies, support the benefits of screening.