Skip to main content
. Author manuscript; available in PMC: 2009 May 1.
Published in final edited form as: J Cyst Fibros. 2008 Feb 11;7(3):262–265. doi: 10.1016/j.jcf.2008.01.001

Table 2.

The Rationale for Early Diagnosis Through Newborn Screening

  1. The GI/Nutrition Rationale for NBS

    1. CF patients are generally well nourished at birth

    2. PI will develop in ~90% of patients by ~1 year

    3. Severe malnutrition will develop in ~50% untreated

    4. PI can be anticipated and malnutrition prevented

    5. Long term benefits of normal nutrition are significant

  2. The Pulmonary Rationale for NBS

    1. The CF lung is normal at birth, but not for long.

    2. Lung disease often develops as early as 2 months.

    3. Pseudomonas aeruginosa (PA) colonization may occur in ~1/3 of undiagnosed patients.

    4. PA conversion to mucoid PA is of great long term risk for children with CF.

  3. Other Rationale

    1. Psychological harm associated with the “diagnostic odyssey” (6) may be prevented.

    2. Parents are provided with informed reproductive options for future pregnancies.

    3. Economic benefits may be realized for both diagnosis (22) and treatment (18).

    4. Clinical research is facilitated (21), especially study of upstream preventive strategies.