Congenital Defects Program Research Articles

Changes in Spina Bifida Lesion Level After Folic Acid Fortification in the US

Changes in Spina Bifida Lesion Level After Folic Acid Fortification in the US

Changes in Spina Bifida Lesion Level after Folic Acid Fortification in the US

To assess whether the severity of cases of spina bifida changed after the institution of mandatory folic acid fortification in the US. Six active population-based birth defects programs provided data on cases of spina bifida for 1992-1996 (prefortification period) and 1999-2016 (postfortification period). The programs contributed varying years of data. Case information included both a medical record verbatim text description of the spina bifida diagnosis and spina bifida codes (International Classification of Diseases, Clinical Modification, or a modified birth defects surveillance coding system). Comparing the prefortification and postfortification periods, aORs for case severity (upper-level lesions [cervical, thoracic] vs lower-level lesions [lumbar, sacral]) and prevalence ratios (PRs) were estimated. A total of 2593 cases of spina bifida (out of 7 816 062 live births) met the inclusion criteria, including 573 cases from the prefortification period and 2020 cases from the postfortification period. Case severity decreased by 70% (aOR, 0.30; 95% CI, 0.26-0.35) between the fortification periods. The decrease was most pronounced for non-Hispanic White mothers. Overall spina bifida prevalence declined by 23% (PR, 0.77; 95% CI, 0.71-0.85), with similar reductions seen across the early, mid, and recent postfortification periods. A statistically significant decrease in upper-level lesions occurred in the postfortification period compared with the prefortification period (PR, 0.28; 95% CI, 0.22-0.34), whereas the prevalence of lower-level lesions remained relatively similar (PR, 0.94; 95% CI, 0.84-1.05). The severity of spina bifida cases decreased after mandatory folic acid fortification in the US. Further examination is warranted to better understand the potential effect of folic acid on spina bifida severity.

Evaluation of an active population-based surveillance system for major birth defects in South Carolina.

Birth defects are common, costly, and contribute substantially to infant mortality. The South Carolina Birth Defects Program (SCBDP) employs active population-based surveillance to monitor major birth defects statewide. We evaluated SCBDP's system attributes using published CDC guidelines. To determine timeliness, completeness, and accuracy of birth defects information, we examined SCBDP's reports, program and education materials, advisory group meeting minutes, and strategic plan. We also met with program staff and stakeholders (n = 10) to discuss program goals and data utilization. We calculated the percentage of birth defects cases found 6 months after a birth cohort year for 2016-2018. SCBDP identifies 900-1,200 birth defects cases for a birth population of approximately 55,000 live births annually through active case reviews. SCBDP uses trained medical staff to abstract detailed information from maternal and infant medical records; SCBDP also has established auto-linkage with state vital statistics to capture demographic and birth data. SCBDP is timely and captures 97.1% (range 96.7-97.6%) of birth defects cases within 6 months after the birth cohort year closes. Active case identification using medical records as the primary data source improves quality assurance and completeness, while prepopulating demographic information improves timeliness. Given that birth defects significantly contribute to infant morbidity and mortality, monitoring these conditions is important to understand their impact on communities and to drive public health actions. SCBDP active surveillance and rigorous data quality practices provide the program with timely, complete, and accurate birth defects data.

Public Health Practice of Population-Based Birth Defects Surveillance Programs in the United States.

Birth defects remain a leading cause of infant mortality in the United States and contribute substantially to health care costs and lifelong disabilities. State population-based surveillance systems have been established to monitor birth defects, yet no recent systematic examination of their efforts in the United States has been conducted. To understand the current population-based birth defects surveillance practices in the United States. The National Birth Defects Prevention Network conducted a survey of US population-based birth defects activities that included questions about operational status, case ascertainment methodology, program infrastructure, data collection and utilization, as well as priorities and challenges for surveillance programs. Birth defects contacts in the United States, including District of Columbia and Puerto Rico, received the survey via e-mail; follow-up reminders via e-mails and telephone were used to ensure a 100% response rate. Forty-three states perform population-based surveillance for birth defects, covering approximately 80% of the live births in the United States. Seventeen primarily use an active case-finding approach and 26 use a passive case-finding approach. These programs all monitor major structural malformations; however, passive case-finding programs more often monitor a broader list of conditions, including developmental conditions and newborn screening conditions. Active case-finding programs more often use clinical reviewers, cover broader pregnancy outcomes, and collect more extensive information, such as family history. More than half of the programs (24 of 43) reported an ability to conduct follow-up studies of children with birth defects. The breadth and depth of information collected at a population level by birth defects surveillance programs in the United States serve as an important data source to guide public health action. Collaborative efforts at the state and national levels can help harmonize data collection and increase utility of birth defects programs.

Incidence of Congenital Heart Defects in a Public Maternity Hospital during the Period 1998-2011 in the Beginning of the National Congenital Heart Defects Program

Background: Congenital heart defects (CHD) are among the most common congenital diseases with great impact in infantmorbidity and mortality; however, their real incidence in our country is unknown. The Ministry of Health created the NationalCongenital Heart Defect Program to contribute to the reduction of infant mortality for this cause. Therefore, determiningthe incidence and the relative frequency of CHD at the Hospital Materno Infantil Ramon Sarda, a public tertiary institutionspecialized in high risk pregnancies and congenital defects would provide information to the Program.Objectives: 1) To determine the incidence and relative frequency of CHD in liveborn (LB) infants at the Hospital MaternoInfantil Ramon Sarda in the beginning of the PNCC program. 2) To evaluate the association with other congenital defects.3) To analyze the distribution of CHD by sex.Methods: The study has a descriptive, observational and retrospective design. The digital clinical records of 1,161 LB infantswith confirmed diagnosis of CHD from the Section of Pediatric Cardiology, Hospital Materno Infantil Ramon Sarda, betweenJanuary 1, 1998 and December 31, 2011, evaluated during hospitalization and follow-up at the outpatient clinic, were analyzed.Congenital heart defects were classified based on their severity according to the meta-analysis published by Hoffman andKaplan in USA assessing their incidence and relative frequency.Categorical data are presented as number of absolute cases and percentage. Results: From a total of 92,725 LB infants during the study period, CHD were present in 1,161 of cases (12.5/1000). Afterexcluding small muscular ventricular septal defects, the prevalence decreased to 7/1000 LB infants.The prevalence of moderate and severe CHD was 44% (3 to 3.5/1000).Ventricular septal defects were the most common CHD.Conclusion: Despite being a tertiary center for high risk pregnancy and congenital defect, the incidence of CHD determinedat the Hospital Materno Infantil Ramon Sarda is similar to the one published worldwid

Selected birth defects data from population‐based birth defects surveillance programs in the United States, 2006 to 2010: Featuring trisomy conditions

The annual National Birth Defects Prevention Network (NBDPN) Congenital Malformations Surveillance Report includes state-level data on major birth defects (i.e., conditions present at birth that cause adverse structural changes in one or more parts of the body) and a directory of population-based birth defects surveillance systems in the United States. Beginning in 2012, these annually updated data and directory information are available in an electronic format accompanied by a data brief. This year’s report includes data from 41 population-based birth defects surveillance programs and a data brief highlighting the more common trisomy conditions (i.e., disorders characterized by an additional chromosome): trisomy 21 (commonly referred to as Down syndrome), trisomy 18, and trisomy 13. State-Specific Data Collection and Presentation for Selected Birth Defects Data collection The NBDPN Data Committee, in collaboration with the Centers for Disease Control and Prevention (CDC), invited population-based birth defects surveillance programs in the United States to submit data on major birth defects affecting central nervous, eye, ear, cardiovascular, orofacial, gastrointestinal, genitourinary, and musculoskeletal systems, as well as trisomies, amniotic bands, and fetal alcohol syndrome. Table 1 lists these 47 conditions and their diagnostic codes (International Classification of Diseases, 9th Revision, Clinical Modification [ICD-9-CM]; and Centers for Disease Control and Prevention/British Pediatric Association Classification of Diseases [CDC/BPA]). Table 1 ICD-9-CM and CDC/BPA Codes for 47 Birth Defects Reported in the NBDPN Annual Report Participating state birth defects programs provided counts of all cases of the birth defects listed in Table 1 as well as counts of live births and male live births in their catchment areas for births occurring from January 1, 2006 through December 31, 2010. The cases for all defects were reported by maternal census race/ethnic categories: White non-Hispanic, Black/African-American non-Hispanic, Hispanic, Asian/Pacific Islander non-Hispanic, American Indian/Alaska Native non-Hispanic. Additionally, trisomy cases were provided by six categories of maternal age at delivery: less than 20 years, 20 to 24 years, 25 to 29 years, 30 to 34 years, 35 to 39 years, and 40+ years.

Newborn Screening for Critical Congenital Heart Disease: Potential Roles of Birth Defects Surveillance Programs—United States, 2010–2011

In September 2011, the Secretary of the U.S. Department of Health and Human Services (HHS) approved the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) 2010 recommendation that all newborns be screened for critical congenital heart disease (CCHD) using pulse oximetry, a noninvasive test of blood oxygenation, to prevent mortality and morbidity. CDC partnered with the National Birth Defects Prevention Network (NBDPN) to conduct a survey designed to assess state birth defect surveillance programs' potential roles, capabilities, and readiness to assist with newborn screening activities for CCHD. States were surveyed in November 2010, after the initial SACHDNC recommendation, and again in November 2011, after the Secretary's approval. From 2010 to 2011, the number of birth defects surveillance programs involved in CCHD screening increased from one to 10. Barriers exist, such as the lack of legislative authority, staffing, funding, and informatics infrastructure. Sixty-seven percent of programs take an average of more than 12 months to collect complete data on birth defect cases, including congenital heart defects. An assessment of state birth defects programs' existing data and capability to lead the evaluation of screening for CCHD is warranted.

Newborn screening for critical congenital heart disease: Essential public health roles for birth defects monitoring programs

Newborn screening for critical congenital heart defects, added in September 2011 to the Recommended Uniform Screening Panel in the United States, is a new public health priority and has particular relevance for state birth defects surveillance programs. In this commentary, we review the background to potential involvement by birth defects programs with screening, and detail key questions that these programs can evaluate: (1) health outcomes after newborn screening among affected children; (2) missed primary targets of screening (i.e., affected children who were not screened or had false-negative screens); (3) burden and screening accuracy for secondary targets; (4) the role of altitude, sociodemographic characteristics, and other special circumstances; (5) the contribution of prenatal and clinical diagnoses before newborn screening; and (6) costs and service utilization. To address these issues, monitoring programs will need to pay particular attention to: (1) data sources and quality; (2) timeliness; (3) long-term follow-up for comprehensive outcomes; (4) reporting standards; and (5) state and national program coordination. Although some aspects of involvement with these screening programs will require new partnerships and paradigm shifts in birth defects program operations, the visibility of these screening programs among stakeholders will also provide birth defects programs with new opportunities to demonstrate their usefulness.

Surveillance of birth defects: Brazil and the US

The impacts of birth defects in the society have substantially increased over the last decades in countries where the reduction of infant mortality by other causes has occurred. Birth defects surveillance represents an important source of information for planning X health policies and resource allocation. In this article, we discuss the potential utilizations, methodology options, limitations, and policy issues related to birth defects surveillance. Also, the birth defects surveillance programs from US and Brazil are described and compared as an illustration of the development of surveillance systems in two countries with clearly dissimilar health systems and resource allocation for birth defects programs. Finally, we propose measures for the improvement of the existing systems in both countries focusing at the utilization of preexisting resources.

Challenges and priorities for surveillance of stillbirths: a report on two workshops.

Stillbirths, those with and without birth defects, are an important public health topic. The National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention conducted two workshops during April and July 2005. Both workshops explored the challenges of conducting surveillance of stillbirths. Workshop participants considered an approach that added the surveillance of stillbirths, those with and without birth defects, as part of existing population-based birth defects surveillance programs in Iowa and Atlanta. The workshops addressed three key aspects for expanding birth defects programs to conduct active, population-based surveillance on stillbirths: (1) case identification and ascertainment, (2) data collection, and (3) data use and project evaluation. Participants included experts in pediatrics, obstetrics, epidemiology, maternal-fetal medicine, perinatology and pediatric pathology, midwifery, as well as practicing clinicians and pathologists. Expanding existing birth defects surveillance programs to include information of stillbirths could potentially enhance the data available on fetal death reports and also could benefit such programs by improving the ascertainment of birth defects.

Multistate study of the epidemiology of clubfoot

Although clubfoot is a common birth defect, with a prevalence of approximately 1 per 1000 livebirths, the etiology of clubfoot remains largely unknown. Studies of the prevalence and risk factors for clubfoot in the United States have previously been limited to specific states. The purpose of this study was to pool data from several birth defects surveillance programs to better estimate the prevalence of clubfoot and investigate its risk factors. The 10 population-based birth defects surveillance programs that participated in this study ascertained 6139 cases of clubfoot from 2001 through 2005. A random sample of 10 controls per case, matched on year and state of birth, was selected from birth certificates. Data on infant and maternal risk factors were collected from birth certificates. Prevalence was calculated by pooling the state-specific data. Conditional logistic regression was used to investigate the association between risk factors and clubfoot. The overall prevalence of clubfoot was 1.29 per 1000 livebirths; 1.38 among non-Hispanic whites, 1.30 among Hispanics, and 1.14 among non-Hispanic blacks or African Americans. Maternal age, parity, education, and marital status were significantly associated with clubfoot. Maternal smoking and diabetes also showed significant associations. Several of these observed associations were consistent between surveillance programs. We estimated the prevalence of clubfoot using data from several birth defects programs, representing one-quarter of all births in the United States. Our findings underline the importance of birth defects surveillance programs and their utility in monitoring population-based prevalence and investigating risk factors.

Collection, use, and protection of population‐based birth defects surveillance data in the united states

Birth defects surveillance systems collect population-based birth defects data from multiple sources to track trends in prevalence, identify risk factors, refer affected families to services, and evaluate prevention efforts. Strong state and federal public health and legal mandates are in place to govern the collection and use of these data. Despite the prima facie appeal of "opt-in" and similar strategies to those who view data collection as a threat to privacy, the use of these strategies in lieu of population-based surveillance can severely limit the ability of public health agencies to accurately access the health status of a group within a defined geographical area. With the need for population-based data central to their mission, birth defects programs around the country take their data stewardship role seriously, recognizing both moral and legal obligations to protect the data by employing numerous safeguards. Birth defects surveillance systems are shaped by the needs of the community they are designed to serve, with the goal of preventing birth defects or alleviating the burdens associated with them.

Birth defects interstate data exchange: A battle worth fighting?

Regardless of where infants and children are delivered, diagnosed, or treated, an important aspect of population-based birth defects surveillance is ensuring the inclusion of children with birth defects in the catchment area. However, little is known as to how the lack of interstate birth defects data exchange affects program surveillance, monitoring, prevention, and referral activities. The study objectives were to determine the status of interstate birth defects data exchange agreements and to quantify statewide data on resident births occurring in nonresident states. In 2004, surveys were distributed to all population-based birth defects programs in the United States to determine: 1) the types of interstate birth defects data exchange agreements that exist among birth defects programs, 2) perceived barriers in establishing exchange agreements, and 3) the extent to which out-of-state births affect a program's catchment area. The National Center for Health Statistics (NCHS) data for 2002 on live birth residency were used to determine the actual frequency of out-of-state live birth occurrence. Of the 52 states and territories that were surveyed, 65% (n = 34) responded. Approximately 21% (n = 7) of those that responded had an interstate data exchange agreement that allowed sharing of birth defects data with another state or a facility within another state. Approximately 53% (n = 18) of responding states indicated plans to develop an interstate birth defects data exchange agreement with other states, hospitals, or both. The NCHS data showed that the actual percentage of resident out-of-state live births ranged from 0.16 to 11.51. NCHS data also reveal that 78% of states would be able to capture >75% of their out-of-state births by sharing data on out-of-state births with the three neighboring states ranking highest in terms of such occurrences. Few states have interstate birth defects data exchange agreements, though all states have resident births occurring out of state. While suggestive, data beyond residency of live births are needed to quantify the degree to which the objectives of state-based birth defects programs are compromised. Resources exist to guide programs in establishing interstate data exchange agreements. Efforts to establish such agreements with only a few neighboring states could be a large step toward improving birth defects surveillance on a state, regional, and national level.

High rates of neural tube defects in Ukraine.

Oral consumption of synthetic folic acid can prevent neural tube defects (NTDs), which are some of the most severe congenital anomalies. The prevalence of NTDs in Ukraine and other countries of the former U.S.S.R. has not been well studied. We determined the prevalence of NTD-affected pregnancies in Northwestern Ukraine as background for policy decisions related to flour fortification in this country. The Ukrainian-American Birth Defects Program was established in 1999 and conducts population- based surveillance of birth defects in several oblasts (states) of Ukraine. We determined the prevalence of NTDs in the Volyn and Rivne oblasts of Northwestern Ukraine for three years, 2000-2002. There were 75,928 births in the two oblasts in 2000-2002. There were 159 cases of NTDs among live births, stillbirths, and induced abortions. The prevalence of NTDs in the two oblasts in Northwestern Ukraine is 2.1 per 1000 births. The prevalence of NTD-affected pregnancies we found in Northwestern Ukraine is almost four times what it should be. This prevalence suggests that population folate deficiency is widespread in Ukraine. Universal folic acid fortification of flour milled in Ukraine is urgently needed to end this epidemic of birth defects. Such fortification would be expected to prevent folate deficiency anemia, heart attacks, and strokes.

Epidemiology of triploidy in a population-based birth defects registry, Hawaii, 1986-1999.

Triploidy is a highly lethal chromosomal abnormality with few fetuses surviving to term. Triploidy has not been extensively studied using data from a population-based birth defect registry. This investigation examined the epidemiology of triploidy using data from the Hawaii Birth Defects Program (HBDP) and compared its findings with the literature. Of the 38 identified cases of triploidy delivered in Hawaii during 1986-1999, 31 (82%) were early fetal deaths, 3 (8%) late fetal deaths, and 4 (11%) elective terminations. The distribution of cases by sex chromosome combination was 15 (39%) XXX, 22 (58%) XXY, and 1 (3%) XYY. Triploidy was prenatally diagnosed in eight (21%) of the cases, of which four were electively terminated, two resulted in early fetal death, and two resulted in late fetal death. The detected triploidy prevalence in 1993-1999 was higher than the prevalence in 1986-1992, although the difference was not statistically significant (rate ratio (RR) 1.20, 95% confidence interval (CI) 0.73-1.86). The detected triploidy prevalence for maternal age of 35 years or greater was significantly higher than the prevalence for maternal age less than 35 years (RR 4.07, 95% CI 2.22-6.83). In spite of under detection of cases, many aspects of the epidemiology of triploidy identified in a population-based birth defects registry were consistent with that reported in the literature.

Residence, delivery and referral patterns of infants and fetuses with birth defects delivered in Hawaii, 1986–1999

Information on residence, delivery and referral patterns is useful to a birth defects program for allocation of resources, predicting where deliveries may have occurred, and estimating the impact of altering geographic inclusion criteria. The purpose of this study was to describe the residence, delivery and referral patterns for infants and fetuses with birth defects delivered in Hawaii. Data were obtained from the Hawaii Birth Defects Program and included birth defects cases delivered between 1986 and 1999 with known delivery residence and place of delivery. Of 12,873 total cases, 171 (1%) were delivered to out-of-state residents. Of the remaining 12,702 cases delivered to residents in the four Counties of Hawaii, 9905 (78%) were to City and County of Honolulu residents and 2797 (22%) were to residents of Hawaii, Kauai and Maui Counties. Of the cases delivered to City and County of Honolulu residents, 9903 were delivered in that County. Of the cases delivered to residents of the other three Counties, 591 (21%) were referred to the City and County of Honolulu for delivery, and 1602 (57%) were referred to the City and County of Honolulu for any reason. Honolulu delivery referral rates and total referral rates for cases delivered to Hawaii, Kauai and Maui County residents were higher with prenatal diagnosis of a birth defect (59 and 87%, respectively) and elective termination (70 and 85%, respectively), and varied among 53 different types of birth defect (0–83% and 23–100%, respectively).

Birth Defects Associated with Varying Longevity

Congenital anomalies often are detected late in pregnancy or during labor. It's pivotal to know the mortality rates for various birth defects, because mortality risk may affect labor management. The Hawaii Birth Defects Program is a statewide, population-based registry of all live births, fetal deaths, and elective terminations in which there is …

Using the Colorado birth defects monitoring program to connect families with services for children with special needs.

The Community Notification and Referral Program (CNRP), which operates from within the state's birth defects monitoring and prevention program, links children and their families with local public health and early childhood agencies, which then inform families of services and resources in their home communities. In Colorado, many communities have developed systems for identifying, screening, evaluating, and providing services to children with developmental delays or other special needs. CNRP uses the existing infrastructure of services for children with special needs by notifying local community programs of children reported to the birth defects program with birth defects, developmental disabilities, or risks for developmental delay. Children to be referred to local agencies are identified from the birth defects registry on the basis of diagnosis and residence. Minor or lethal conditions are excluded from referral. CNRP provides the child's name, date of birth, address, phone, guardian, diagnoses, date and source of diagnosis, and length of stay to the local agency. A parental consent process is used under some circumstances. CRCSN analyzed data from 1621 children referred to local agencies in 1998. The local agencies contacted 34.1% of the families and referred 46.9%. of those contacted to early intervention, developmental, evaluation, or other services. They determined that 29.5% could definitely or moderately benefit from developmental services. In a telephone survey of families, 65.4% said they had learned about services, resources, or developmental screening about which they had not been aware. CRCSN has developed a notification and referral program to link families with services for children with special needs that could serve as a model for other birth defects registries.

Inclusion of early fetal deaths in a birth defects surveillance system.

This investigation evaluated the impact of collecting data on early fetal deaths (less than 20 weeks' gestation) on a birth defects surveillance system. Data were obtained from the Hawaii Birth Defects Program (HBDP), a statewide registry for Hawaii with active case ascertainment methodology. In 1986 through 1997, 257 early fetal deaths with birth defects were identified, representing 2.2% of the total birth defects cases. Two hundred sixteen (84.1%) of the early fetal deaths had chromosomal defects (mainly trisomies, polyploidies, and Turner syndrome) and 59 (23.0%) had structural defects. Most (65.4%) of the early fetal deaths with chromosomal defects occurred at 8-12 weeks' gestation, and 62.3% of the early fetal deaths with structural defects occurred at 16-19 weeks' gestation. For half of the 26 specific birth defects examined, early fetal deaths accounted for at least 4% of all cases. The proportion of total birth defects cases accounted for by early fetal deaths increased over the 12-year period of the study (p = 0.003). Most of this secular trend appeared to result from an increase over time in early fetal deaths where a birth defect was prenatally detected (p = 0.004). Although ascertainment of early fetal deaths is not believed to be complete, their inclusion in a birth defects registry may be beneficial because of confusion about the pregnancy outcome and/or gestational age reported in the medical record, their importance in cluster investigations, and their contribution to birth defects prevention strategies.

Impact of prenatal diagnosis and elective termination on the prevalence of selected birth defects in Hawaii.

This study examined the effect of prenatal diagnosis and elective termination on the prevalence of neural tube defects, oral clefts, abdominal wall defects, and chromosomal anomalies in Hawaii by using actively ascertained surveillance data collected between 1987 and 1996 by the Hawaii Birth Defects Program. Because the Program has nearly universal access to prenatal diagnostic information and to follow-up data on elective terminations, Hawaii is an ideal setting in which to study their effects on prevalence rates of birth defects. Except for oral clefts, a large proportion of the defects studied were prenatally diagnosed: anencephaly (87%), spina bifida (62%), encephalocele (83%), cleft palate (0%), cleft lip with or without cleft palate (14%), omphalocele (60%), gastroschisis (76%), Down syndrome (43%), trisomy 18 (61 %), and trisomy 13 (40%). The effect of elective terminations on the birth prevalence rates for most of these birth defects was significant. Including electively terminated cases in the calculations of birth prevalence rates increased the rates by more than 50% for five of the 10 birth defects studied.