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BACKGROUND AND OBJECTIVE: New Jersey was the first state to implement legislatively mandated newborn pulse oximetry screening (POxS) in all licensed birthing facilities to detect critical congenital heart defects (CCHDs). The objective of this report was to evaluate implementation of New Jersey’s statewide POxS mandate. METHODS: A 2-pronged approach was used to collect data on infants screened in all New Jersey birthing facilities from August 31, 2011, through May 31, 2012. Aggregate screening results were submitted by each birthing facility. Data on failed screens and clinical characteristics of those newborns were reported to the New Jersey Birth Defects Registry (NJBDR). Three indicators were used to distinguish the added value of mandated POxS from standard clinical care: prenatal congenital heart defect diagnosis, cardiology consultation or echocardiogram indicated or performed before PoxS, or clinical findings at the time of POxS warranting a pulse oximetry measurement. RESULTS: Of 75 324 live births in licensed New Jersey birthing facilities, 73 320 were eligible for screening, of which 99% were screened. Forty-nine infants with failed POxS were reported to the NJBDR, 30 of whom had diagnostic evaluations solely attributable to the mandated screening. Three of the 30 infants had previously unsuspected CCHDs and 17 had other diagnoses or non-CCHD echocardiogram findings. CONCLUSIONS: In the first 9 months after implementation, New Jersey achieved a high statewide screening rate and established surveillance mechanisms to evaluate the unique contribution of POxS. The screening mandate identified 3 infants with previously unsuspected CCHDs that otherwise might have resulted in significant morbidity and mortality and also identified other significant secondary targets such as sepsis and pneumonia.

In response to published newborn-screening data that have shown an increase in the incidence (birth prevalence) rate of primary congenital hypothyroidism (CH) in the United States, a workshop was held in Atlanta, Georgia, on February 27 and 28, 2008, to examine this issue. Topics of the meeting included pathophysiology, medical management, and follow-up of CH; transient hypothyroidism (etiology, clinical implications, management, and changes in prevalence); risk factors for CH; laboratory approaches to newborn screening for CH; state-specific evaluations of trends in incidence rates of CH; and concluding discussions on future directions to resolve outstanding issues. Through presentations and discussion, gaps in knowledge were identified, such as the lack of consistent definitions for CH and transient hypothyroidism and the effects of preventable risk factors on incidence rates of CH. One outcome of the meeting was a series of accompanying articles that examined (1) trends in the incidence rates of CH in individual states and nationally, (2) effects of newborn-screening practices on CH-incidence rates, (3) the contribution of transient hypothyroidism to CH-incidence rates, and (4) future research directions. In this summary, we briefly touch on the topics of these articles and examine highlights of other presentations from the workshop that illuminated the secular trends in reported CH-incidence rates in the United States.

In February 2006, the Centers for Disease Control and Prevention sponsored a workgroup meeting in Atlanta, Georgia, on the use of family medical history information in pediatric primary care and public health. The meeting focused on pediatric topics as part of the Centers for Disease Control and Prevention Family History Public Health Initiative. One outcome of the meeting was a series of published articles that summarized the proceedings and explored 4 topics that emerged as leading issues from the meeting: (1) optimizing use of family history in primary care; (2) linking obstetric and pediatric clinicians through preconception health care; (3) assessing potential campaigns to prevent chronic disease, starting with family history assessment in childhood; and (4) using birth defect family histories for prevention efforts. In this introduction we highlight each article and preview existing efforts in preconception health care and birth defects prevention that use family history.

Objective. Biliary atresia is the leading cause of extrahepatic obstructive jaundice in the newborn and is the single most frequent indication for liver transplantation in children. The cause of biliary atresia is unknown, although several mechanisms have been postulated to explain the inflammatory process that obliterates the bile ducts. Most interest has been directed toward viral infections. Information about the epidemiologic characteristics of biliary atresia in well-defined populations is lacking but is essential for developing and addressing hypotheses of causation for the disease. Methods. Infants with biliary atresia were identified in metropolitan Atlanta from 1968 through 1993 by a population-based birth defects surveillance system that ascertains infants with serious birth defects in the first year of life using active case ascertainment. Birth prevalence rates were analyzed for spatial and temporal clustering and effects attributable to county of residence, sex, race, maternal age, parity, and birth weight. Logistic regression was used to study the independent effects of the risk factors and to look for interactions. Results. Fifty-seven infants with biliary atresia were identified, for a rate of 0.73 per 10 000 live births. There was significant seasonal clustering of the disease, with rates three times higher from December through March compared with rates from April through July. Rates were significantly higher among nonwhite infants compared with white infants (0.96 vs 0.44 per 10 000 live births) and infants born at term with low birth weights ( Conclusions. Our study is the first in the United States to describe the epidemiologic characteristics of biliary atresia using a population-based approach. The demonstration of significant seasonal clustering provides support for theories that biliary atresia may be caused by environmental exposure (consistent with a viral cause) during the perinatal period.

OBJECTIVES: Critical congenital heart disease (CCHD) was recently added to the US Recommended Uniform Screening Panel for newborns. This study assessed whether maternal/household and infant characteristics were associated with late CCHD detection. METHODS: This was a statewide, population-based, retrospective, observational study of infants with CCHD born between 1998 and 2007 identified by using the Florida Birth Defects Registry. We examined 12 CCHD conditions that are primary and secondary targets of newborn CCHD screening using pulse oximetry. We used Poisson regression models to analyze associations between selected characteristics (eg, CCHD type, birth hospital nursery level [highest level available in the hospital]) and late CCHD detection (defined as diagnosis after the birth hospitalization). RESULTS: Of 3603 infants with CCHD and linked hospitalizations, CCHD was not detected during the birth hospitalization for 22.9% (n = 825) of infants. The likelihood of late detection varied by CCHD condition. Infants born in a birth hospital with a level I nursery only (adjusted prevalence ratio: 1.9 [95% confidence interval: 1.6–2.2]) or level II nursery (adjusted prevalence ratio: 1.5 [95% confidence interval: 1.3–1.7]) were significantly more likely to have late-detected CCHD compared with infants born in a birth hospital with a level III (highest) nursery. CONCLUSIONS: After controlling for the selected characteristics, hospital nursery level seems to have an independent association with late CCHD detection. Thus, perhaps universal newborn screening for CCHD could be particularly beneficial in level I and II nurseries and may reduce differences in the frequency of late diagnosis between birth hospital facilities.

OBJECTIVE. The Louisiana Office of Public Health and the Centers for Disease Control and Prevention assessed the extent to which newborn screening was disrupted from August 15 to September 21, 2005, the immediate period before and after Hurricane Katrina.METHODS. A list of hospitals with labor and delivery services was obtained from the Louisiana Hospital Association. A survey sent to hospitals on October 17, 2005, asked about the number of live births during the assessment period, disruption in hospital services, the number of specimens sent to alternative laboratories, and the number of children without screening results.RESULTS. Among 64 Louisiana hospitals with labor and delivery units, 6 remained closed at the time of the survey. Of the 58 open hospitals, 53 (91.4%) completed the questionnaire. Twenty-one (36.2%) of 58 hospitals experienced disruption of newborn screening services. Respondents from 31 (58.5%) of the 53 open hospitals acknowledged receiving the advisory from the Office of Public Health regarding resumption of newborn screening laboratory services. Hospitals stated that of 5958 specimens submitted, reports had not been received for 1207 (20.3%) newborns. The Office of Public Health laboratory reviewed the names of 2828 newborns received from hospitals and determined that no specimen was received within 14 days of collection for 631 (22.3%). Thirty percent of the specimens received from infants who were born between August 15 and September 21 were rejected as a result of having been received >14 days after collection. Ten children had confirmed positive screening results during the assessment period; all were located, and treatment was initiated.CONCLUSIONS. Collaboration between the Office of Public Health and the Centers for Disease Control and Prevention was essential to increase awareness of changes in laboratory procedures after the hurricane and to help identify infants who might be in need of screening or rescreening.