Neural Tube Defects in Pregnancies Among Women With Diagnosed HIV Infection - 15 Jurisdictions, 2013-2017.

In May 2018, a study of birth defects in infants born to women with diagnosed human immunodeficiency virus (HIV) infection in Botswana reported an eightfold increased risk for neural tube defects (NTDs) among births with periconceptional exposure to antiretroviral therapy (ART) that included the integrase inhibitor dolutegravir (DTG) compared with other ART regimens (1). The World Health Organization* (WHO) and the U.S. Department of Health and Human Services† (HHS) promptly issued interim guidance limiting the initiation of DTG during early pregnancy and in women of childbearing age with HIV who desire pregnancy or are sexually active and not using effective contraception. On the basis of additional data, WHO now recommends DTG as a preferred treatment option for all populations, including women of childbearing age and pregnant women. Similarly, the U.S. recommendations currently state that DTG is a preferred antiretroviral drug throughout pregnancy (with provider-patient counseling) and as an alternative antiretroviral drug in women who are trying to conceive.§ Since 1981 and 1994, CDC has supported separate surveillance programs for HIV/acquired immunodeficiency syndrome (AIDS) (2) and birth defects (3) in state health departments. These two surveillance programs can inform public health programs and policy, linkage to care, and research activities. Because birth defects surveillance programs do not collect HIV status, and HIV surveillance programs do not routinely collect data on occurrence of birth defects, the related data have not been used by CDC to characterize birth defects in births to women with HIV. Data from these two programs were linked to estimate overall prevalence of NTDs and prevalence of NTDs in HIV-exposed pregnancies during 2013-2017 for 15 participating jurisdictions. Prevalence of NTDs in pregnancies among women with diagnosed HIV infection was 7.0 per 10,000 live births, similar to that among the general population in these 15 jurisdictions, and the U.S. estimate based on data from 24 states. Successful linking of data from birth defects and HIV/AIDS surveillance programs for pregnancies among women with diagnosed HIV infection suggests that similar data linkages might be used to characterize possible associations between maternal diseases or maternal use of medications, such as integrase strand transfer inhibitors used to manage HIV, and pregnancy outcomes. Although no difference in NTD prevalence in HIV-exposed pregnancies was found, data on the use of integrase strand transfer inhibitors in pregnancy are needed to understand the safety and risks of these drugs during pregnancy.

Birth defects surveillance in Florida: infant death certificates as a case ascertainment source.

BACKGROUND: Completeness of case ascertainment is a concern for all birth defects registries and generally requires a multisource approach. Using infant death certificates as one case ascertainment source may identify cases of birth defects that would have otherwise been missed. We sought to examine the utility of adding infant death certificates to the Florida Birth Defect Registry's (FBDR) case ascertainment methods and to determine what factors are associated with the registry's failure to capture infants that die from birth defects. METHODS: FBDR cases from 1999 to 2006 were matched to a statewide linked birth-infant death file. Descriptive statistics were used to assess the FBDR's ability to capture infants with a birth defect-related cause of death (COD) and identify conditions most commonly missed. Factors associated with the FBDR's failure to capture an infant who died from a birth defect during the first year of life were identified with logistic regression models. RESULTS: There were 2558 (21.1%) infant deaths with birth defects listed as the underlying or an associated COD, of which the FBDR captured 73.3%. Most often missed defects included malformation of the coronary vessels, lung hypoplasia/dysplasia, anencephaly, and unspecified congenital malformations. Logistic regression identified gestational age/birth weight, age at death, autopsy decision, plurality, adequacy of prenatal care, and maternal nativity as factors associated with the FBDR's failure to capture an infant with a birth defect-related COD. CONCLUSIONS: Although the overall potential contribution of infant death certificates to the FBDR is small, this source contributes to the prevalence of specific defects.

Developing a database management system to support birth defects surveillance in Florida.

The value of any public health surveillance program is derived from the ways in which data are managed and used to improve the public's health. Although birth defects surveillance programs vary in their case volume, budgets, staff, and objectives, the capacity to operate efficiently and maximize resources remains critical to long-term survival. The development of a fully-integrated relational database management system (DBMS) can enrich a surveillance program's data and improve efficiency. To build upon the Florida Birth Defects Registry--a statewide registry relying solely on linkage of administrative datasets and unconfirmed diagnosis codes-the Florida Department of Health provided funding to the University of South Florida to develop and pilot an enhanced surveillance system in targeted areas with a more comprehensive approach to case identification and diagnosis confirmation. To manage operational and administrative complexities, a DBMS was developed, capable of managing transmission of project data from multiple sources, tracking abstractor time during record reviews, offering tools for defect coding and case classification, and providing reports to DBMS users. Since its inception, the DBMS has been used as part of our surveillance projects to guide the receipt of over 200 case lists and review of 12,924 fetuses and infants (with associated maternal records) suspected of having selected birth defects in over 90 birthing and transfer facilities in Florida. The DBMS has provided both anticipated and unexpected benefits. Automation of the processes for managing incoming case lists has reduced clerical workload considerably, while improving accuracy of working lists for field abstraction. Data quality has improved through more effective use of internal edits and comparisons with values for other data elements, while simultaneously increasing abstractor efficiency in completion of case abstraction. We anticipate continual enhancement to the DBMS in the future. While we have focused on enhancing the capacity of our DBMS for birth defects surveillance, many of the tools and approaches we have developed translate directly to other public health and clinical registries.

Is the prevalence of specific types of congenital heart defects different for non-Hispanic white, non-Hispanic black and Hispanic infants?

BACKGROUND: Our purpose was to determine the prevalence of specific types of CHD among non-Hispanic (NH)-Black, NH-White, and Hispanic infants. METHODS: We conducted a retrospective cohort study with 9,352 singleton infants diagnosed with conotruncal, right or left obstructive or septal CHDs from the Florida Birth Defects Registry, born 1998-2003 to resident NH-White, NH-Black, and Hispanic women aged 15-49. Defect-specific prevalence rates, prevalence ratios and P-values were calculated for each type of CHD and by number of defects for each racial/ethnic group. RESULTS: Compared to NH-Whites, NH-Blacks had higher rates of pulmonary valve atresia/stenosis but lower frequency of aortic valve atresia/stenosis and ventricular septal defect. Hispanics had lower rates of aortic valve atresia/stenosis and atrioventricular septal defects than NH-Whites. CONCLUSIONS: Although few racial/ethnic differences in prevalence are present among infants with major CHD, observed differences are clinically meaningful. However, the underlying etiologies for the observed differences remain unknown.

Maternal nativity as a risk factor for gastroschisis: a population-based study.

BACKGROUND: The prevalence of gastroschisis is increasing in many parts of the world, although the etiology is largely unexplained. Young maternal age has been the only consistently identified, strong risk factor. The objective of this study was to examine the role of maternal nativity in relation to other suspected risk factors for gastroschisis in Florida. METHODS: We conducted a retrospective cohort study of singleton infants born in Florida from 1998-2003. Gastroschisis cases were identified from the Florida Birth Defects Registry. Demographic and perinatal data were obtained from birth records. Multivariable Poisson regression was used to estimate adjusted prevalence ratios (PRs) and 95% confidence intervals (CIs) for each factor of interest. RESULTS: The 6-year birth prevalence of gastroschisis was 3.26 per 10,000 live births, and the annual rate increased 41% during the study period. In addition to maternal age and marital status, maternal race/ethnicity and nativity were significantly associated with the risk of delivering an infant with gastroschisis. Compared with non-Hispanic white women, non-Hispanic black women had the lowest risk of delivering an infant with gastroschisis (PR, 0.19; 95% CI, 0.13-0.26), followed by Hispanic women (PR, 0.60; 95% CI, 0.43-0.83). Women born outside the United States were significantly less likely than U.S.-born women to deliver an infant with gastroschisis (PR, 0.59; 95% CI, 0.41-0.86). CONCLUSIONS: Although young maternal age remains a strong significant risk factor for gastroschisis in Florida, other factors such as maternal race/ethnicity and nativity could be important in explaining the increasing prevalence of gastroschisis.

Are black and Hispanic infants with specific congenital heart defects at increased risk of preterm birth?

Congenital heart defects (CHDs) are a leading cause of infant morbidity and mortality. Infants with CHDs have increased risk of preterm birth (PTB) compared to infants without birth defects. Although non-Hispanic (NH) Blacks are more likely to be born preterm and Hispanics have rates similar to those of PTB to NH-Whites, it is unknown if this pattern is present for infants with specific types of CHDs. Our intent was to determine if defect-specific risk of PTB varies by maternal race/ethnicity among infants with CHDs. We conducted a retrospective cohort study with 14,888 singleton infants from the Florida Birth Defects Registry, born in 1998-2003 to resident NH-White, NH-Black, and Hispanic women aged 15-49, diagnosed with 11 CHDs. Covariates were taken from Florida live birth certificates. PTB was defined as 20-36 weeks of gestation. Odds ratios (OR) and P-values were calculated from defect-specific multivariable logistic regression models; statistical significance was set at P < 0.002. The greatest risk of PTB was for NH-Black infants with conotruncal CHDs. NH-Blacks with common truncus, transposition of the great vessels, and tetralogy of Fallot had increased risk of PTB compared to NH-Whites (OR = 4.8, P = 0.015; OR = 3.1, P = 0.004; and OR = 2.0, P = 0.005, respectively). Hispanics with conotruncal CHDs had almost a twofold risk of PTB compared to NH-Whites (P > 0.002). NH-Blacks with tricuspid valve atresia/stenosis had 4.1 times (P = 0.034) and Hispanics had 2.1 times (P = 0.314) the risk for PTB compared to NH-Whites. NH-Blacks with hypoplastic left heart syndrome had 2.0 times (P = 0.047) the risk for PTB as NH-Whites. Both NH-Black and Hispanic infants with CHDs may be at increased risk of PTB, depending on the type of CHD, but the etiology is unknown. Future research is needed to further examine this complex relationship.

Are there ethnic disparities in risk of preterm birth among infants born with congenital heart defects?

BACKGROUND: Birth defects and preterm birth (PTB) are leading causes of infant morbidity and mortality in the United States. Infants with birth defects are more likely to be born preterm (<37 weeks), yet the roles of maternal ethnicity and fetal growth in this relationship are unclear. This study aimed to assess the risk of PTB among non-Hispanic (NH) Black, NH-White, and Hispanic infants with congenital heart defects (CHD), adjusting for fetal growth. METHODS: Florida Birth Defects Registry data were used to conduct a retrospective cohort study on 14,319 live-born infants with CHDs born January 1, 1998 to December 31, 2002. ORs and 95% CIs were computed for each growth category (small-for-gestational age [SGA], appropriate-for-gestational-age [AGA], and large-for-gestational-age [LGA]) by ethnicity and adjusted for maternal and infant covariates using logistic regression. RESULTS: After adjusting for potential confounders, SGA and AGA NH-Black infants with CHDs had increased risk of PTB compared to NH-White infants with CHDs (OR 1.79; 95% CI: 1.40, 2.30 and OR 1.89; 95% CI: 1.68, 2.13, respectively). Hispanic SGA, AGA, and infants with CHDs had no increased risk of PTB compared to NH-White infants. CONCLUSIONS: The increased risk of PTB among SGA and AGA NH-Black infants with CHDs is not explained by the overall disparities in risk of PTB between NH-Blacks and NH-Whites. Additional studies are needed to determine the specific subtypes of CHD for which these relationships are present and if these findings are seen among infants with other birth defects.

Ascertainment of gastroschisis using the ICD-9-CM surgical procedure code.

OBJECTIVE: To determine the effectiveness of using the ICD-9-CM procedure code 54.71 for case ascertainment of gastroschisis. METHODS: Using procedure code 54.71, we queried a statewide hospital discharge database to identify all cases coded as undergoing surgical repair of gastroschisis. Each retrieved case was verified as having gastroschisis by review of the hospital record. All gastroschisis cases were then matched to the Florida Birth Defect Registry (FBDR) dataset. This registry uses a passive system of multiple data sources and employs the ICD-9-CM diagnostic code 756.79 to identify gastroschisis and other abdominal wall defects. RESULTS: Of 93 cases identified by using code 54.71, 92 were confirmed by record review to have gastroschisis. The FBDR identified 87 of the 92 cases (95%). The FBDR missed three of the remaining five cases because of linkage difficulties between inconsistent data elements in the respective data files. The other two cases were not identified by the FBDR because the source database (AHCA discharge) truncates the entry of ICD-9-CM diagnostic codes when more than 10 of them are listed in the medical record. CONCLUSIONS: Use of the surgical procedure code was demonstrated to be superior to the diagnostic code as a method for identification of gastroschisis cases. The same approach may be useful in the detection of malformations other than gastroschisis.

Florida health care providers' knowledge of folic acid for the prevention of neural tube defects.

OBJECTIVES: The purpose of this study was to determine the impact of an educational program on the knowledge and practice behavior of health care providers regarding folic acid use for the prevention of neural tube defects. METHODS: A survey was mailed to selected Florida health care providers to determine baseline knowledge and practice behavior. After a statewide educational program, another mail survey was sent to the same groups of providers to determine the effect of the campaign. RESULTS: Comparison between the two surveys showed a significant increase in knowledge and in the percentage of health care providers who recommended the periconceptional use of folic acid for the prevention of neural tube defects. Providers graduating in 1992 or later were more likely than those graduating before 1992 to have the appropriate knowledge about folic acid use but were less likely to recommend it to their patients. CONCLUSIONS: Significant gains were made in increasing knowledge and changing practice behavior among selected Florida health care providers. Regardless of the magnitude of these gains, our data show that some health care providers who have regular contact with women of childbearing age still do not know the recommended doses of folic acid or do not recommend its use. This points toward the need for continued education as well as efforts to modify provider behavior.

Treatment of oralfacial clefts by state-affiliated craniofacial centers and cleft palate clinics.

BACKGROUND: Oralfacial clefting (OFC) disorders require expedient evaluation and treatment to obtain optimal outcome. In Florida, there is a statewide program targeted to the care of infants with OFC. We therefore sought to determine statewide referral and treatment patterns of children born with OFC identified through the Florida Birth Defects Registry. METHODS: Using data for 1996 and 1997 and ICD-9 CM codes 749.00 - 749.25, we identified 539 OFC cases. All cases were matched with the evaluation and treatment records of the statewide Children's Medical Services' (CMS) craniofacial centers (CFC) and cleft palate clinics (CPC). The likelihood of CMS contact was examined with respect to demographic and other descriptive data characterizing the OFC cases. RESULTS: 42% (227/539) of OFC cases were evaluated at or known to the CFC or CPC. Children with cleft lip and palate were more likely to have had contact than were those with cleft lip or cleft palate alone. The CFC and CPC programs were most likely to provide evaluation between age 2 months and 3 years. Of 12 counties with occurrences of more than 15 OFC cases, 2 had significantly lower contact rates, suggesting possible problems in accessibility or reporting of services. CONCLUSIONS: Statewide Birth Defect Registry data can be used in collaboration with statewide treatment programs to gain insight into referral patterns and provision of services. Factors influencing access to services and quality of care, though not addressed by this study, could be prospectively incorporated into such a project.