Materials to review:
- Case and discussion from Dr. Dave Higgins
- Newborn screening: a review, Almannai et al. Current Opinion in Pediatrics, 2016
- Current revolution in newborn screening – Tarini BA, 2007 (this is an older article, but I like Beth’s thoughts on the ethical implications and communicating with families)
- WA state newborn screening website
Key points in newborn screening:
- When did it start and how is it done? The first sensitive, inexpensive, and easily performed newborn screening test was developed by Dr. Robert Guthrie in 1962. Prior to Guthrie’s assay for hyperphenyalaninemia, infants with suspected phenylketonuria (PKU) were diagnosed at 6-8 weeks of age. Within 10 years the testing was used nationwide. Now many diseases can be detected with tandem mass spectrometry technique (we screen for about 30 on our state screening). Key criteria for screening is which diseases have accurate, safe, effective testing and follow-up treatment available.
- What are the most common diseases detected? Congenital hypothyroidism, hemoglobinopathies, congenital adrenal hyperplasia, CF, and galactosemia. In WA each year 174,000 specimens from about 86,000 newborns are tested. Approximately 170 – 200 infants have one of the conditions. A one-time fee ($69.00 in 2014) for each baby screened funds this testing.
- What’s the reliability of screening tests? Sensitivity is approaching 99% for most disorders. However, false-positives remain a big problem, particularly for endocrinopathies: one study found as many as 50 false-positives for 1 true-positive. Studies have shown that up to 20% of families maintain some concern about the health of their child after false-positive screening results, so reviewing this information with families is key.
- Why a 2nd screening? A 2nd screening between 7-14 days of life is recommended (though not required in our state), primarily to detect congenital hypothyroidism. About 15% of hypothyroidism cases are missed on the first screen.
- What to do when a test is positive? Key information we should review with parents includes basic description of the disease process in question, that there are false positives, especially for some diseases, and next steps in evaluation and treatment (e.g., repeat testing on same sample, speaking to a specialist early in the evaluation process). Refer to the WA state newborn screening website for more guidance.