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

Early Hum Dev. 1997 May 28;48(3):279-85. doi: 10.1016/s0378-3782(96)01862-2.


Objectives: 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.

Design: Cohort.

Setting: Two large maternity hospitals.

Participants: 8751 consecutive births at the study hospitals during 1993.

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

Results: 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).

Conclusions: 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.

Publication types

  • Multicenter Study

MeSH terms

  • Cohort Studies
  • Humans
  • Infant Care / statistics & numerical data*
  • Infant, Newborn
  • Infant, Newborn, Diseases / diagnosis*
  • Infant, Newborn, Diseases / epidemiology
  • Intensive Care Units, Neonatal / statistics & numerical data
  • Length of Stay
  • Neonatal Screening*
  • Retrospective Studies
  • Risk Factors