Failure to screen newborns for inborn disorders: a potential consequence of changes in newborn care

To determine how changes in the structure of the hospital care of infants, such as shortened post-natal stays, affect the completeness of newborn screening.

Cohort.

Two large maternity hospitals.

8751 consecutive births at the study hospitals during 1993.

The completeness of initial specimen collection and processing as determined by matching of birth and screening records.

At least one specimen was received by the screening program for 8675 (99.1%) of the births. Most non-screened patients (71/76, 93%) had been admitted to the neonatal intensive care unit (NICU). Of these, 53/71 (75%) were low birth weight infants who died within 48 h of birth. Even after excluding these non-survivors, NICU patients were 37 times more likely to be unscreened than their healthy counterparts (22 vs. 0.6 per 1000 infants, 95% C.I. 12.8, 92.8 P < 0.01). A common characteristic of non-screened NICU survivors, (12/18) was interhospital transfer for sub-specialty care. Among patients in the healthy-baby nursery, early discharge (i.e. < 24 h of age) accounted for 2/5 (40%) of the cases of non-screening. The non-screening rate among patients discharged early was 25 times higher than for those discharged after 24 h (9.8 vs. 0.4 per 1000 infants, 95% C.I. 4.2, 149 P < 0.01).

Although the overall rate of screening was high, NICU patients, especially those requiring transfer, are disproportionately at risk for non-screening. Early discharge of healthy newborns was also significantly associated with non-screening. This latter finding is of special importance given the current trend toward shorter hospital stays for newborns. Increased attention to ensuring the collection of specimens from these two high-risk populations is warranted.