Black Births Research Articles

Reverse interviewing: a white adoptive mother engaging with black birth mothers and vice versa

Researcher reflexivity, meaning the revealing of the researcher’s assumptions and her position vis-à-vis those researched, has by now become commonplace. This article explores such issues in the context of a larger study of transnational adoption for which I conducted interviews with South African birth mothers as both a researcher/interviewer and an adoptive mother. Instead of seeking to eliminate researcher bias, I propose using it as data that could reveal novel aspects of the phenomenon under study. This article specifically explores the use of reverse interviewing, which in this case meant disclosing my double positionality and inviting the interviewees to ask me questions. It is not a matter of merely extracting information: the technique allows participants to air their concerns, and facilitates investigation of the researcher’s reactions to them. All this, in turn, carries implications with regard to how the study area is conceptualised.

The sex ratio at birth in South Africa may be a sentinel health indicator

IntroductionThe sex ratio at birth is commonly expressed as M/T, denoting male births divided by total births. Males are almost invariably born slightly in excess. Stress and negative socioeconomic conditions lower M/T and this has been mooted as a possible reason for the observed low M/T for Black births worldwide. South Africa is experiencing a period of economic prosperity. This study was carried out in order to ascertain whether improving conditions in South Africa as measured by available health indicators, were associated with a rise in M/T in this country. MethodsAnnual male and female births were obtained from Statistics South Africa along with key health indicators: total fertility rate, life expectancy, infant mortality and under 5year mortality, for 2003–2014. ResultsThere were a total of 12,409,437 births (M/T 0.5035, 95% CI 0.5032-0.5037). There was a rise in M/T over the initial period studied (2003−2010) with a plateau thereafter. The rise over the entire period studied was significant (Chi for linear trend=30.3, p<0.0001). M/T was significantly positively correlated with life expectancy and significantly negatively correlated with infant mortality, under 5year mortality and total fertility rate. DiscussionIt has been mooted that the lower M/T observed in Blacks may be stress-related. The observed rise in M/T associated with health improvements in South Africa support this contention. Moreover, this study suggests that M/T may serve as a sentinel health indicator, and may not only highlight adverse conditions through its decline, but also improvements in overall conditions with its rise.

Does Segregation Lead to Lower Birth Weight?: An Instrumental Variable Approach.

Racial residential segregation in the United States has been linked to racial differences in birth outcomes, with studies reporting associations between segregation and birth weight. However, this relationship is likely confounded, and many individual and neighborhood-level covariates included in previous models are likely mediators, potentially obscuring any causal impact of segregation on birth weight. We compiled a record of non-Hispanic black and white singleton births to US-born/resident mothers in 2000, linked to segregation indices at the metropolitan statistical area (MSA) level in the non-Southern US. Segregation was measured via the dissimilarity index. The outcomes were individual-level birth weight and the metropolitan statistical area-level black/white gap in birth weight. We instrumented for segregation using the railroad division index. We compared race-stratified ordinary least squares models to two-stage least squares models, with cluster robust standard errors. We estimated a 1.2 g decrease in black birth weight for every one-percentage point increase in segregation (95% confidence interval [CI]: -1.9, -0.50) via ordinary least squares but a 2.8 g decrease (95% CI: -6.0, 0.48) using two-stage least squares. For white infants, our ordinary least squares estimate was 0.53 (95% CI: -0.23, 1.3), and our two-stage least squares estimate was in the opposite direction (-0.68, 95% CI: -3.5, 2.1). Ordinary least squares estimates may understate the effect of segregation on birth weight in blacks. Evidence from instrumental variable models was consistent with a causal impact of segregation on black birth outcomes, but estimates were imprecise and may be affected by weak instrument bias.

Abstract 3449: Placental characteristics and risk of cryptorchidism among populations at high and low risk of testicular germ cell tumors

Abstract Background: Testicular germ cell tumors, which are significantly more common among white men than black men in the U.S., are thought to be part of a Testicular Dysgenesis Syndrome (TDS) that also includes impaired fertility, hypospadias and cryptorchidism. The etiology of the TDS conditions is not well understood, but the in-utero milieu is likely to be a significant factor. As the placenta is a critically important determinant of the in-utero milieu, placental characteristics may play a role in determining risk of the TDS conditions. Prior evidence suggests that placental weight, in particular, may be associated with cryptorchidism. Methods: We examined placental characteristics (weight, thickness, placental weight/birth weight ratio, infarct size, disorders of membrane development, presence of macrophages in the amniotic fluid) and cryptorchidism in a nested case-control study within the Collaborative Perinatal Project (CPP). The CPP was a maternal-child cohort study conducted in 12 medical centers in the U.S. between 1959 and 1965. Diagnoses of cryptorchidism made during the first year of life were included in the case group. The analysis contrasted 413 (232 white, 181 black) boys with cryptorchidism to 23,799 (12,092 white, 11,707 black) boys without cryptorchidism. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated using unconditional logistic regression, stratified by race. Results: Among white boys, cryptorchidism was significantly associated with circummarginate placenta (OR: 1.7, 95% CI: 1.1-2.7) or a combination of circummarginate/circumvallate (OR: 1.3, 95% CI: 1.0-1.8) placenta. Among black boys, cryptorchidism was significantly associated with having at least one placental infarct greater than 3 cm (OR: 2.3, 95% CI: 1.1-4.8) and with placental weight in the lower (OR: 1.7, 95% CI: 1.1-2.6) or higher (OR: 1.5, 95% CI: 1.0-2.3) tertile compared with the middle tertile. No significant associations were found between cryptorchidism and the other placental characteristics in either white or black boys. Conclusion: These results suggest that there may be associations between cryptorchidism and certain placental characteristics which differ between white and black births. The race-specific findings suggest an area where future research may prove fruitful. Citation Format: Armen A. Ghazarian, Britton Trabert, Barry Graubard, Matthew Longnecker, Mark Klebanoff, Katherine McGlynn. Placental characteristics and risk of cryptorchidism among populations at high and low risk of testicular germ cell tumors. [abstract]. In: Proceedings of the 107th Annual Meeting of the American Association for Cancer Research; 2016 Apr 16-20; New Orleans, LA. Philadelphia (PA): AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 3449.

Newborn Screening Programs and Sickle Cell Disease: A Public Health Services and Systems Approach.

Despite universal newborn screening (NBS), children in the U.S. continue to experience morbidity and mortality from sickle cell disease and related causes. Recognizing that assessments of public health services and systems can improve public health system performance and ultimately health outcomes, this study examined variations in NBS program activities for sickle cell disease. A mixed methods study included (1) a 2009 survey of NBS programs based on ten essential public health services (N=39 states with ten or more sickle cell births over a 3-year period) and (2) key informant interviews in 2011 with 13 states that had sufficient Phase 1 survey scores, black births, and variability in state legislation and geography. Key informants were from 13 NBS programs, 22 sickle cell treatment centers, and ten advocacy organizations. Analyses were conducted in 2009-2014. Considerable variability exists across states in program activities and roles. More programs reported activities oriented to care of individuals-ensuring access to services, coordination, and provider education; fewer reported planning and analysis activities oriented to statewide policy development and system change. Numbers of activities were not related to the number of affected births. In-depth interviews identified opportunities to enhance activities that support statewide comprehensive systems of care. NBS programs perform important public health roles that complement and enhance clinical services. Nationwide efforts are needed to enable NBS programs to strengthen population-based functions that are essential to ensuring quality of care for the entire population of children and families affected by sickle cell disease.

Regional and Racial Disparity of Preterm Birth Prevalence in Georgia, 1995–2012

Preterm birth (PTB), defined as a live birth with a gestational age of less than 37 weeks, is the leading cause of infant mortality in developed countries. Recent studies have shown increases in PTB rates through the 1990s and 2000s in the United States, especially in a few states in the southeast including Georgia. Although researchers have studied the epidemiology of PTB in several regions, the spatial-temporal patterns of PTB rates in Georgia remain largely unexplored. This paper examines the spatial variations of PTB prevalence in Georgia at the county level between 1995 and 2012. Spatial clusters are assessed using global Moran's I and local indicators of spatial association (LISA). For disparity analysis, comparisons are made between births classified by race (black vs. white) and by four levels of urbanization. Results indicated a steady increase in PTB rates for both black and white births of all four urbanization classifications from 1995 to 2007, followed by a general decline from 2007 to 2012 for all groups. More urbanized counties tended to have lower PTB rates than more rural counties when compared as groups. Spatial clustering of high PTB rates tended to occur in the southern portion of the state for both white and black births, growing more prominent in the south central region as time progressed. Alternatively, spatial clustering of low PTB rates tended to occur in counties located in the north and northeastern areas of Georgia. The findings from this exploratory research are expected to serve as the basis of further studies of PTB and its risk factors, as well as to more effectively allocating prenatal health care resources.

Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

Background It is well known that the incidence of nonsyndromal cleft lip and palate varies greatly according to ancestry: 0.3 to 0.4 per 1000 live births in blacks, one in 1000 in Caucasians, and two in 1000 in Asians and individuals from the central province of Saudi Arabia. Median cleft lip is a variable feature in oral-facial-digital syndrome type I (OFD-I). Objective To test the hypothesis that genetic factors may determine the lip phenotype in OFD-I patients. Methods A study involving 15 Saudi girls (from the central province of Saudi Arabia) with OFD-I showed a high rate (93.3%) of median cleft lip and palate. This rate in OFD-I patients is known to range from 33% to 56% in Caucasians and also known to be very low in blacks. The authors compared the rate of median cleft lip with or without cleft palate in the Arabian series (93.3%) with the rate in Caucasians and blacks. Results The difference in median cleft lip with or without cleft palate among the three groups was significant. Conclusion This supports the hypothesis that ancestral genetic factors may determine the lip phenotype in OFD-I patients.

Contributors to excess infant mortality in the U.S. South.

Infant mortality rates (IMRs) are disproportionally high in the U.S. South; however, the proximate contributors that could inform regional action remain unclear. To quantify the components of excess infant mortality in the U.S. South by maternal race/ethnicity, underlying cause of death, and gestational age. U.S. Period Linked Birth/Infant Death Data Files 2007-2009 (analyzed in 2013) were used to compare IMRs between the South (U.S. Public Health Regions IV and VI) and all other regions combined. Compared to other regions, there were 1.18 excess infant deaths per 1000 live births in the South, representing about 1600 excess infant deaths annually. New Mexico and Texas did not have elevated IMRs relative to other regions; excess death rates among other states ranged from 0.62 per 1000 in Kentucky to 3.82 per 1000 in Mississippi. Racial/ethnic compositional differences, generally the greater proportion of non-Hispanic black births in the South, explained 59% of the overall regional difference; the remainder was mostly explained by higher IMRs among non-Hispanic whites. The leading causes of excess Southern infant mortality were sudden unexpected infant death (SUID; 36%, range=12% in Florida to 90% in Kentucky) and preterm-related death (22%, range= -71% in Kentucky to 51% in North Carolina). Higher rates of preterm birth, predominantly <34 weeks, accounted for most of the preterm contribution. To reduce excess Southern infant mortality, comprehensive strategies addressing SUID and preterm birth prevention for both non-Hispanic black and white births are needed, with state-level findings used to tailor state-specific efforts.

Variability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?

It is well known that the incidence of nonsyndromal cleft lip and palate varies greatly according to ancestry: 0.3 to 0.4 per 1000 live births in blacks, one in 1000 in Caucasians, and two in 1000 in Asians and individuals from the central province of Saudi Arabia. Median cleft lip is a variable feature in oral-facial-digital syndrome type I (OFD-I). To test the hypothesis that genetic factors may determine the lip phenotype in OFD-I patients. A study involving 15 Saudi girls (from the central province of Saudi Arabia) with OFD-I showed a high rate (93.3%) of median cleft lip and palate. This rate in OFD-I patients is known to range from 33% to 56% in Caucasians and also known to be very low in blacks. The authors compared the rate of median cleft lip with or without cleft palate in the Arabian series (93.3%) with the rate in Caucasians and blacks. The difference in median cleft lip with or without cleft palate among the three groups was significant. This supports the hypothesis that ancestral genetic factors may determine the lip phenotype in OFD-I patients.

Multilevel factors influencing preterm birth in an urban setting

Racial disparity in preterm is a major problem in the US. Although significant strides have been made in identifying some of the risk factors, the complexities between community and individual factors are not understood. This study examines the influence of individual and community level factors affecting preterm birth among Black and White women in an urban setting. A 10-year live birth registry dataset from a mid-sized, racially diverse city was analyzed (N = 30,591). Data were geocoded and merged with block group level Census data. Five hierarchical models were examined using PROC GLIMMIX. Education, illicit drug use, pregnancy complications, previous preterm birth, paternal presence, inadequate and adequate plus prenatal care, and poverty were associated with preterm births in both Blacks and Whites. In Black women, increasing maternal age, maternal smoking, and a previous infant death were significant predictors of preterm births, which was not the case for White women. Residing in medium or high poverty neighborhoods resulted in 19% and 28% higher odds, respectively, of preterm birth for Black women. In addition to individual level factors, neighborhood poverty is an important risk factor influencing preterm birth. It is essential to engage multisectoral agencies in addressing factors influencing preterm birth.

A population-based case-control study of stillbirth: the relationship of significant life events to the racial disparity for African Americans.

Stillbirths (fetal deaths occurring at ≥20 weeks' gestation) are approximately equal in number to infant deaths in the United States and are twice as likely among non-Hispanic black births as among non-Hispanic white births. The causes of racial disparity in stillbirth remain poorly understood. A population-based case-control study conducted by the Stillbirth Collaborative Research Network in 5 US catchment areas from March 2006 to September 2008 identified characteristics associated with racial/ethnic disparity and interpersonal and environmental stressors, including a list of 13 significant life events (SLEs). The adjusted odds ratio for stillbirth among women reporting all 4 SLE factors (financial, emotional, traumatic, and partner-related) was 2.22 (95% confidence interval: 1.43, 3.46). This association was robust after additional control for the correlated variables of family income, marital status, and health insurance type. There was no interaction between race/ethnicity and other variables. Effective ameliorative interventions could have a substantial public health impact, since there is at least a 50% increased risk of stillbirth for the approximately 21% of all women and 32% of non-Hispanic black women who experience 3 or more SLE factors during the year prior to delivery.

1,25-Dihydroxyvitamin D3 Promotes a Sustained LPS-Induced NF-κB-Dependent Expression of CD55 in Human Monocytic THP-1 Cells

The vitamin D3 system imposes immunosuppressive effects on monocytic cells, in part, by inhibiting NF-κB-dependent expression of proinflammatory mediators. CD55, a cell surface complement regulatory protein that promotes protective and anti-inflammatory properties, is reportedly an NF-κB target gene transiently induced in monocytic cells by the bacterial endotoxin LPS. CD55 is elevated on white cells in women experiencing preterm labor (a pathophysiology commonly associated with bacterial infection) and failure to maintain CD55 was associated with subsequent preterm delivery. We examined the influence of vitamin D3 signaling on LPS-induced expression of CD55 in human monocytic THP-1 cells using quantitative PCR, immunoblot, immunohistochemistry, and NF-κB activation pathway inhibitors. Non-NF-κB targets CD14 and CD11b, which modulate bacterial surveillance and eradication, respectively, were also examined. LPS produced a rapid transient 1.6-fold increase in CD55 mRNA. 1,25-D3 alone did not affect CD55 mRNA expression within the first 48 h. However, in 1,25-D3 pretreated cells, LPS produced a >4-fold immediate and sustained increase in CD55 mRNA and protein expression, which was blocked by NF-κB inhibitors. Our results unexpectedly suggest that vitamin D3 signaling may promote an anti-inflammatory response through an NF-κB-dependent increase in CD55 expression. As expected, LPS or 1,25-D3 alone led to sustained increases in CD14 and CD11b expression. In 1,25-D3 pretreated cells, LPS differentially regulated protein expression - CD14 (21-fold increase) and CD11b (a transient 2-fold decrease) - principally at the posttranscriptional level. The coordinated temporal expression of CD55, CD14 and CD11b would contribute to an anti-inflammatory response by providing protection against complement-mediated cell lysis during pathogen recognition and eradication. Overall, the vitamin D3 system may play a role coordinating an anti-inflammatory response pattern of the host complement immune system. This may be particularly important when considering the high rates of preterm births in blacks, a population that exhibits reduced circulating vitamin D3 levels.

Racial variation in vitamin D cord blood concentration in white and black male neonates.

The aim of this study is to evaluate racial variation in umbilical cord blood concentration of vitamin D and to explore its correlation with markers of the insulin-like growth factor axis (IGFs) and sex steroid hormones in white and black male neonates. In 2004-2005, venous umbilical cord blood samples were collected from 75 black and 38 white male neonates, along with maternal and birth characteristics from two hospitals in Maryland, United States. 25-Hydroxyvitamin D [25(OH)D] and 1,25-dihydroxyvitamin D [1,25(OH)(2)D] were measured by radioimmunoassay and testosterone, estradiol, and sex hormone-binding globulin (SHBG) by immunoassay and IGF-1, IGF-2, and IGF-binding protein-3 by ELISA. Crude and multivariable-adjusted geometric mean concentrations were computed. Mean 25(OH)D levels were lower in black than in white neonates (11.44; 95% CI 10.10-12.95ng/mL vs. 18.24; 95% CI 15.32-21.72ng/mL; p<0.0001). Black neonates were at higher risk of suboptimal vitamin D levels [25(OH)D<20ng/mL] than whites (84 vs. 63%). 25(OH)D concentrations varied by season in whites but not in blacks and were significantly inversely correlated with mother's parity (number of live births) in blacks but not in whites. Mean concentration of 1,25(OH)(2)D did not differ by race. 25(OH)D and 1,25(OH)(2)D did not correlate with IGFs, sex steroid hormones, and SHBG. Suboptimal vitamin D levels were prevalent especially in blacks and influenced by mother's parity and by season. The observed vitamin D differences between black and white neonates warrant further evaluation of the etiology of the disparity in chronic diseases in adulthood.

Trends and Characteristics of Home Births in the United States by Race and Ethnicity, 1990–2006

: Background: After a gradual decline from 1990 to 2004, the percentage of births occurring at home in the United States increased by 5 percent in 2005 and that increase was sustained in 2006. The purpose of the study was to analyze trends and characteristics in home births in United States by race and ethnicity from 1990 to 2006. Methods: U.S. birth certificate data on home births were analyzed and compared with hospital births for a variety of demographic and medical characteristics. Results: From 1990 to 2006, both the number and percentage of home births increased for non-Hispanic white women, but declined for all other race and ethnic groups. In 2006, non-Hispanic white women were three to four times more likely to have a home birth than women of other race and ethnic groups. Home births were more likely than hospital births to occur to older, married women with singleton pregnancies and several previous children. For non-Hispanic white women, fewer home births than hospital births were born preterm, whereas for other race and ethnic groups a higher percentage of home births than hospital births were born preterm. For non-Hispanic white women, two-thirds of home births were delivered by midwives. In contrast, for other race and ethnic groups, most home births were delivered by either physicians or “other” attendants, suggesting that a higher proportion of these births may be unplanned home births because of emergency situations. Conclusions: Differences in the risk profile of home births by race and ethnicity are consistent with previous research, suggesting that, compared with non-Hispanic white women, a larger proportion of non-Hispanic black and Hispanic home births represent unplanned, emergency situations. (BIRTH 38:1 March 2011)

Trends in US sex ratio by plurality, gestational age and race/ethnicity

The sex ratio in the USA has declined over recent decades, resulting in fewer male births. Concurrent changes in the childbearing population may have influenced the sex ratio, including increases in multiple births, improvements in perinatal survival and increased Hispanic births. Data from the US natality files (1981-2006) were analyzed to determine the impact of changes in birth characteristics on male birth proportion. Male birth proportion was calculated as the number of male births divided by the total number. In separate analyses, trends in male birth proportion from 1981 to 2006 were adjusted for plurality (singleton, multiple), gestational age (<28, 28-32, 33-36, >or=37 weeks) and, from 1989, maternal Hispanic ethnicity. Separate analyses were conducted for white and black births. Log binomial regression was performed to estimate crude and adjusted trends with year as independent variable. Trends in male birth proportion differed significantly according to plurality among white (P < 0.01), but not black births. Adjustment for gestational age tempered the trends among white singletons (P < 0.0001) and multiples (P < 0.05) but had no effect on trends in black male birth proportion. Adjustment for Hispanic ethnicity had no impact on trends in black male birth proportion and any effect on white births was negated by changes in gestational age trends. Lack of consistent influences on, or patterns of change in, the proportion of male births between different subpopulations of births suggests that a single mechanism is unlikely to explain the oft-referenced decrease in the overall US sex ratio.

Association Between Black Smoke and Birth Weight: Variation Across Three Decades

Association Between Black Smoke and Birth Weight: Variation Across Three Decades

Newborn Sickle Cell Screening in a Region of Western New York State

To assess local trends in the incidence of sickle cell disease (SCD) and hemoglobin (Hb) S trait. Hemoglobinopathy clinic follow-up and cohort mortality rates were also evaluated. A longstanding newborn hemoglobinopathy screening program was reviewed. Incidence rates were computed with information from a confidential database, specialty clinic/hospital data, and local birth statistics. Over 27 years, the incidence of Hb SS in live black births was 0.163% or 1 in 615. Over 18 years, the incidence of Hb AS was 8.5% or 1 in 11.8. No significant differences in the incidence of Hb SS, Hb AS, and the S allele were found over time. Specialty clinic follow-up improved. Death before age 18 years was documented for 6 SCD cases (2.8%; mortality rate of 0.23 per 100 patient years). Local screening activities may have had an impact on participation in specialized SCD care and the disease-associated mortality rate. The incidence of Hb SS has remained unchanged over 27 years, and that of Hb S trait and the S allele has been unaffected in the last 18 years. Trait notification goals and approaches should be reevaluated.

A population-based study of race-specific risk for placental abruption

BackgroundEfforts to elucidate risk factors for placental abruption are imperative due to the severity of complications it produces for both mother and fetus, and its contribution to preterm birth. Ethnicity-based differences in risk of placental abruption and preterm birth have been reported. We tested the hypotheses that race, after adjusting for other factors, is associated with the risk of placental abruption at specific gestational ages, and that there is a greater contribution of placental abruption to the increased risk of preterm birth in Black mothers, compared to White mothers.MethodsWe conducted a population-based cohort study using the Missouri Department of Health's maternally-linked database of all births in Missouri (1989–1997) to assess racial effects on placental abruption and the contribution of placental abruption to preterm birth, at different gestational age categories (n = 664,303).ResultsAmong 108,806 births to Black mothers and 555,497 births to White mothers, 1.02% (95% CI 0.96–1.08) of Black births were complicated by placental abruption, compared to 0.71% (95% CI 0.69–0.73) of White births (aOR 1.32, 95% CI 1.22–1.43). The magnitude of risk of placental abruption for Black mothers, compared to White mothers, increased with younger gestational age categories. The risk of placental abruption resulting in term and extreme preterm births (< 28 weeks) was higher for Black mothers (aOR 1.15, 95% CI 1.02–1.29 and aOR 1.98, 95% CI 1.58–2.48, respectively). Compared to White women delivering in the same gestational age category, there were a significantly higher proportion of placental abruption in Black mothers who delivered at term, and a significantly lower proportion of placental abruption in Black mothers who delivered in all preterm categories (p < 0.05).ConclusionBlack women have an increased risk of placental abruption compared to White women, even when controlling for known coexisting risk factors. This risk increase is greatest at the earliest preterm gestational ages when outcomes are the poorest. The relative contribution of placental abruption to term births was greater in Black women, whereas the relative contribution of placental abruption to preterm birth was greater in White women.

Ethnicity of children with homozygous c.985A&gt;G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants

It has been suggested that homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a disease of White ethnic origin but little is known regarding its ethnic distribution. We estimated ethnic-specific homozygous c.985A>G MCADD birth prevalence from a large-scale UK newborn screening study. Homozygous c.985A>G MCADD cases were ascertained in six English newborn screening centres between 1 March 2004 and 28 February 2007 by screening approximately 1.1 million newborns using tandem mass spectrometry analysis of underivatised blood spot samples to quantitate octanoylcarnitine (C8). Follow-up biochemistry and mutation analyses for cases (mean triplicate C8 value >/=0.5 micromol/L) were reviewed to confirm diagnosis. Ethnicity was ascertained from clinician report and denominators from 2001 UK Census estimates of ethnic group of children less than one year. Sixty-four infants were c.985A>G MCADD homozygotes (overall prevalence 5.8 per 100,000 live births; 95% CI 4.4-7.2). Sixty (93%) were White, two (3%) were mixed/other and two were of unknown ethnic origin. No Asian or Black homozygotes were identified. Proportions of White, mixed/other, Asian and Black births in screening regions were estimated, yielding homozygous c.985A>G MCADD birth prevalence of 6.9 per 100,000 (95% CI 5.2-8.8) in White, and 95% CI estimates of 0-2.7 per 100,000 in Asian and 0-5.8 in Black populations. The c.985A>G carrier frequency in the White group was estimated at one in 65 (95% CI 1/74, 1/61) under Hardy-Weinberg conditions. c.985A>G homozygous MCADD is not found in Black and Asian ethnic groups that have been screened at birth in England. This is consistent with the earlier published observations suggesting that MCADD due to the c.985A>G mutation is a disease of White ethnic origin.

Communication of positive newborn screening results for sickle cell disease and sickle cell trait: Variation across states

In the US, all states and the District of Columbia have universal newborn screening (NBS) programs for sickle cell disease (SCD), which also identify sickle cell trait (trait). In this project, we surveyed follow-up coordinators, including one in the District of Columbia and two in Georgia, about protocols for stakeholder notification for SCD and trait. The primary outcomes were total number and type of stakeholder informed of a positive screen. We received 52 completed surveys (100% response). Primary care providers (PCPs) (100%), hematologists (81%), hospitals (73%), and families (40%) were the most commonly notified stakeholders of positive SCD screens, while PCPs (88%), hospitals (63%), and families (37%) were most commonly notified for trait. On average, 3.4 stakeholders were notified for a positive screening for SCD, compared to 2.4 stakeholders for sickle cell trait (P < 0.001). In multivariate analyses for SCD, we found a 2.9% increase in stakeholders notified for each additional year of universal screening mandated in a state (95% CI: 1.4-4.4%). For trait, we found an 8.5% increase in stakeholders notified for each additional follow-up staff (95% CI: 1.3-15.7%), and a 1.3% increase for each additional percent of black births in the state (95% CI: 0.1-2.5%). Wide variation exists in stakeholder notification by NBS programs of positive screenings for SCD and trait. This variation may alter the effectiveness of NBS programs by location of birth.