Last data update: May 13, 2024. (Total: 46773 publications since 2009)
Records 1-10 (of 10 Records) |
Query Trace: Liberman RF[original query] |
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Expanding the Massachusetts Birth Defects Monitoring Program to include additional pregnancy outcomes: Programmatic efforts and impacts on case ascertainment, 2012-2020
Fothergill A , Liberman RF , Nestoridi E , Mai CT , Yeung LF , Higgins C , Yazdy MM . Birth Defects Res 2024 116 (3) e2323 BACKGROUND: Birth defects affect 1 in 33 infants in the United States and are a leading cause of infant mortality. Birth defects surveillance is crucial for informing public health action. The Massachusetts Birth Defects Monitoring Program (MBDMP) began collecting other pregnancy losses (OPLs) in 2011, including miscarriages (<20 weeks gestation) or elective terminations (any gestational age), in addition to live births and stillbirths (≥20 weeks gestation). We describe programmatic changes for adding OPLs and their impact on prevalence estimates. METHODS: Using population-based, statewide, data from the MBDMP (2012-2020), we assessed prevalence per 10,000 live births and 95% confidence intervals (CIs) with and without OPLs overall and for specific birth defects by time period, maternal age, and race/ethnicity. RESULTS: Including OPLs required amending a state statute and promulgating regulations, new data sources, and additional data processing, cleaning, and verification. Overall prevalence with OPLs increased from 257.4 (95% CI: 253.5-261.4) to 333.9 (95% CI: 329.4-338.4) per 10,000; increases were observed in all time periods, age, and race/ethnicity groups. After including OPLs, the prevalence increased for neural tube defects [3.2 (2.7-3.6) to 8.3 (7.6-9.0)], and trisomies 13 [0.5 (0.3-0.7) to 4.1 (3.6-4.6)], 18 [1.5 (1.2-1.9) to 8.2 (7.5-8.9)], and 21 [12.3 (11.4-13.2) to 28.9 (27.6-30.2)]. Cardiovascular defects increased slightly, while prevalence of eye/ear, respiratory, and gastrointestinal defects remained similar. CONCLUSIONS: Adding OPLs required substantial programmatic efforts and resulted in more complete case ascertainment, particularly for certain birth defects. More complete case ascertainment will allow for improved research, screening, and resource allocation. |
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000-2017: A report from the National Birth Defects Prevention Network.
Martin-Giacalone BA , Lin AE , Rasmussen SA , Kirby RS , Nestoridi E , Liberman RF , Agopian AJ , Carey JC , Cragan JD , Forestieri N , Leedom V , Boyce A , Nembhard WN , Piccardi M , Sandidge T , Shan X , Shumate CJ , Stallings EB , Stevenson R , Lupo PJ . Am J Med Genet A 2023 191 (5) 1339-1349 The lack of United States population-based data on Turner syndrome limits assessments of prevalence and associated characteristics for this sex chromosome abnormality. Therefore, we collated 2000-2017 data from seven birth defects surveillance programs within the National Birth Defects Prevention Network. We estimated the prevalence of karyotype-confirmed Turner syndrome diagnosed within the first year of life. We also calculated the proportion of cases with commonly ascertained birth defects, assessed associations with maternal and infant characteristics using prevalence ratios (PR) with 95% confidence intervals (CI), and estimated survival probability. The prevalence of Turner syndrome of any pregnancy outcome was 3.2 per 10,000 female live births (95% CI = 3.0-3.3, program range: 1.0-10.4), and 1.9 for live birth and stillbirth (≥20 weeks gestation) cases (95% CI = 1.8-2.1, program range: 0.2-3.9). Prevalence was lowest among cases born to non-Hispanic Black women compared to non-Hispanic White women (PR = 0.5, 95% CI = 0.4-0.6). Coarctation of the aorta was the most common defect (11.6% of cases), and across the cohort, individuals without hypoplastic left heart had a five-year survival probability of 94.6%. The findings from this population-based study may inform surveillance practices, prenatal counseling, and diagnosis. We also identified racial and ethnic disparities in prevalence, an observation that warrants further investigation. |
Prevalence of critical congenital heart defects and select co-occurring congenital anomalies, 2014-2018: A U.S. population-based study
Stallings EB , Isenburg JL , Aggarwal D , Lupo PJ , Oster ME , Shephard H , Liberman RF , Kirby RS , Nestoridi E , Hansen B , Shan X , Navarro Sanchez ML , Boyce A , Heinke D . Birth Defects Res 2022 114 (2) 45-56 BACKGROUND: Critical congenital heart defects (CCHDs) are one of the most common types of birth defects and can lead to significant morbidity and mortality along with surgical or catheter interventions within the first year of life. This report updates previously published estimates of CCHD prevalence with the latest population-based surveillance data from 19 birth defect surveillance programs. METHODS: The U.S. population-based surveillance programs submitted data on identified cases of 12 CCHDs and co-occurring cardiovascular and chromosomal birth defects from 2014 to 2018. We estimated prevalence by program type and maternal and infant characteristics. Among nine programs with active case ascertainment that collect more than live births, we estimated the percentage of co-occurring cardiovascular and chromosomal birth defects for the 12 CCHDs. RESULTS: We identified 18,587 cases of CCHD among all participating programs. Overall CCHD prevalence was 19.6 per 10,000 live births among all 19 programs and 20.2 per 10,000 live births among active programs. Among maternal racial/ethnic groups, infants/fetuses born to American Indian/Alaska Native mothers showed the highest overall prevalence for all CCHDs (28.3 per 10,000) along with eight of the 12 individual CCHDs. Among 7,726 infants/fetuses with CCHD from active case ascertainment programs, 15.8% had at least one co-occurring chromosomal birth defect. CONCLUSION: Our study provides prevalence estimates for CCHDs by maternal and infant characteristics along with co-occurrence with cardiovascular and chromosomal birth defects among infants/fetuses with CCHD using one of the largest and most recent cohorts since the implementation of widespread CCHD screening. These data can provide a basis for future research to better understand risk factors for these defects. |
Population-based birth defects data in the United States, 2012-2016: A focus on abdominal wall defects
Stallings EB , Isenburg JL , Short TD , Heinke D , Kirby RS , Romitti PA , Canfield MA , O'Leary LA , Liberman RF , Forestieri NE , Nembhard WN , Sandidge T , Nestoridi E , Salemi JL , Nance AE , Duckett K , Ramirez GM , Shan X , Shi J , Lupo PJ . Birth Defects Res 2019 111 (18) 1436-1447 BACKGROUND/OBJECTIVES: In this report, the National Birth Defects Prevention Network (NBDPN) examines and compares gastroschisis and omphalocele for a recent 5-year birth cohort using data from 30 population-based birth defect surveillance programs in the United States. METHODS: As a special call for data for the 2019 NBDPN Annual Report, state programs reported expanded data on gastroschisis and omphalocele for birth years 2012-2016. We estimated the overall prevalence (per 10,000 live births) and 95% confidence intervals (CI) for each defect as well as by maternal race/ethnicity, maternal age, infant sex, and case ascertainment methodology utilized by the program (active vs. passive). We also compared distribution of cases by maternal and infant factors and presence/absence of other birth defects. RESULTS: The overall prevalence estimates (per 10,000 live births) were 4.3 (95% CI: 4.1-4.4) for gastroschisis and 2.1 (95% CI: 2.0-2.2) for omphalocele. Gastroschisis was more frequent among young mothers (<25 years) and omphalocele more common among older mothers (>40 years). Mothers of infants with gastroschisis were more likely to be underweight/normal weight prior to pregnancy and mothers of infants with omphalocele more likely to be overweight/obese. Omphalocele was twice as likely as gastroschisis to co-occur with other birth defects. CONCLUSIONS: This report highlights important differences between gastroschisis and omphalocele. These differences indicate the importance of distinguishing between these defects in epidemiologic assessments. The report also provides additional data on co-occurrence of gastroschisis and omphalocele with other birth defects. This information can provide a basis for future research to better understand these defects. |
Updated baseline prevalence of birth defects potentially related to Zika virus infection
Olson SM , Delaney A , Jones AM , Carr CP , Liberman RF , Forestieri NE , Tong VT , Gilboa SM , Honein MA , Moore CA , Cragan JD . Birth Defects Res 2019 111 (13) 938-940 Zika virus (ZIKV) was first recognized as a human teratogen in 2016 (Rasmussen, Jamieson, Honein, & Petersen, 2016). During the ZIKV outbreak in the Americas, we launched rapid surveillance of pregnancies with laboratory evidence of ZIKV infection and targeted surveillance of birth defects. Because little was known about the birth defects associated with congenital ZIKV infection, a broad case definition was used for surveillance of birth defects potentially related to ZIKV based on early reports of congenital ZIKV infection in the literature and expert opinion. The initial case definition included microcephaly and/or brain abnormalities, neural tube defects (NTDs) and other early brain malformations (e.g., holoprosencephaly), eye abnormalities, and consequences of central nervous system (CNS) dysfunction such as arthrogryposis and hearing loss (Honein et al., 2017). The baseline prevalence of these defects in the United States prior to the ZIKV outbreak was estimated as 2.86 per 1,000 live births (95% CI: 2.65–3.07) using data from statewide birth defects surveillance programs in Massachusetts and North Carolina in 2013 and from three counties in metropolitan Atlanta, Georgia, during 2013–2014 (Cragan et al., 2017). |
Population-based birth defects data in the United States, 2011-2015: A focus on eye and ear defects
Stallings EB , Isenburg JL , Mai CT , Liberman RF , Moore CA , Canfield MA , Salemi JL , Kirby RS , Short TD , Nembhard WN , Forestieri NE , Heinke D , Alverson CJ , Romitti PA , Huynh MP , Denson LE , Judson EM , Lupo PJ . Birth Defects Res 2018 110 (19) 1478-1486 BACKGROUND/OBJECTIVES: In this data brief, we examine major eye and ear anomalies (anophthalmia/microphthalmia, anotia/microtia, and congenital cataract) for a recent 5-year birth cohort using data from 30 population-based birth defects surveillance programs in the United States. METHODS: As a special call for data for the 2018 NBDPN Annual Report, state programs reported expanded data on eye/ear anomalies for birth years 2011-2015. We calculated the combined overall prevalence (per 10,000 live births) and 95% confidence intervals (CI), for the three anomalies as well as by maternal age, maternal race/ethnicity, infant sex, laterality, presence/absence of other major birth defects, and case ascertainment methodology utilized by the program (active vs. passive). RESULTS: The overall prevalence estimate (per 10,000 live births) was 1.5 (95% CI: 1.4-1.5) for anophthalmia/microphthalmia, 1.5 (95% CI: 1.4-1.6) for congenital cataract, and 1.8 (95% CI: 1.7-1.8) for anotia/microtia. Congenital cataract prevalence varied little by maternal race/ethnicity, infant sex, or case ascertainment methodology; prevalence differences were more apparent across strata for anophthalmia/microphthalmia and anotia/microtia. Prevalence among active vs. passive ascertainment programs was 50% higher for anophthalmia/microphthalmia (1.9 vs. 1.2) and two-fold higher for anotia/microtia (2.6 vs. 1.2). Anophthalmia/microphthalmia was more likely than other conditions to co-occur with other birth defects. All conditions were more frequent among older mothers (40+ years). CONCLUSIONS: This data brief provides recent prevalence estimates for anophthalmia/microphthalmia, congenital cataract, and anotia/microtia that address a data gap by examining pooled data from 30 population-based surveillance systems, covering a five-year birth cohort of about 12.4 million births. |
Population-based birth defects data in the United States, 2010-2014: A focus on gastrointestinal defects
Lupo PJ , Isenburg JL , Salemi JL , Mai CT , Liberman RF , Canfield MA , Copeland G , Haight S , Harpavat S , Hoyt AT , Moore CA , Nembhard WN , Nguyen HN , Rutkowski RE , Steele A , Alverson CJ , Stallings EB , Kirby RS . Birth Defects Res 2017 109 (18) 1504-1514 BACKGROUND: Gastrointestinal defects are a phenotypically and etiologically diverse group of malformations. Despite their combined prevalence and clinical impact, little is known about the epidemiology of these birth defects. Therefore, the objective of the 2017 National Birth Defects Prevention Network (NBDPN) data brief was to better describe the occurrence of gastrointestinal defects. METHODS: As part of the 2017 NBDPN annual report, 28 state programs provided additional data on gastrointestinal defects for the period 2010-2014. Counts and prevalence estimates (per 10,000 live births) were calculated overall and by demographic characteristics for (1) biliary atresia; (2) esophageal atresia/tracheoesophageal fistula; (3) rectal and large intestinal atresia/stenosis; and (4) small intestinal atresia/stenosis. Additionally, we explored the frequency of these malformations co-occurring with other structural birth defects. RESULTS: Pooling data from all participating registries, the prevalence estimates were: 0.7 per 10,000 live births for biliary atresia (713 cases); 2.3 per 10,000 live births for esophageal atresia/tracheoesophageal fistula (2,472 cases); 4.2 per 10,000 live births for rectal and large intestinal atresia/stenosis (4,334 cases); and 3.4 per 10,000 live births for small intestinal atresia/stenosis (3,388 cases). Findings related to co-occurring birth defects were especially notable for esophageal atresia/tracheoesophageal fistula, rectal and large intestinal atresia/stenosis, and small intestinal atresia/stenosis, where the median percentage of non-isolated cases was 53.9%, 45.5%, and 50.6%, respectively. CONCLUSIONS: These population-based prevalence estimates confirm some previous studies, and provide a foundation for future epidemiologic studies of gastrointestinal defects. Exploring the genetic and environmental determinants of these malformations may yield new clues into their etiologies. |
Baseline prevalence of birth defects associated with congenital Zika virus infection - Massachusetts, North Carolina, and Atlanta, Georgia, 2013-2014
Cragan JD , Mai CT , Petersen EE , Liberman RF , Forestieri NE , Stevens AC , Delaney A , Dawson AL , Ellington SR , Shapiro-Mendoza CK , Dunn JE , Higgins CA , Meyer RE , Williams T , Polen KN , Newsome K , Reynolds M , Isenburg J , Gilboa SM , Meaney-Delman DM , Moore CA , Boyle CA , Honein MA . MMWR Morb Mortal Wkly Rep 2017 66 (8) 219-222 Zika virus infection during pregnancy can cause serious brain abnormalities, but the full range of adverse outcomes is unknown (1). To better understand the impact of birth defects resulting from Zika virus infection, the CDC surveillance case definition established in 2016 for birth defects potentially related to Zika virus infection* (2) was retrospectively applied to population-based birth defects surveillance data collected during 2013-2014 in three areas before the introduction of Zika virus (the pre-Zika years) into the World Health Organization's Region of the Americas (Americas) (3). These data, from Massachusetts (2013), North Carolina (2013), and Atlanta, Georgia (2013-2014), included 747 infants and fetuses with one or more of the birth defects meeting the case definition (pre-Zika prevalence = 2.86 per 1,000 live births). Brain abnormalities or microcephaly were the most frequently recorded (1.50 per 1,000), followed by neural tube defects and other early brain malformationsdagger (0.88), eye abnormalities without mention of a brain abnormality (0.31), and other consequences of central nervous system (CNS) dysfunction without mention of brain or eye abnormalities (0.17). During January 15-September 22, 2016, the U.S. Zika Pregnancy Registry (USZPR) reported 26 infants and fetuses with these same defects among 442 completed pregnancies (58.8 per 1,000) born to mothers with laboratory evidence of possible Zika virus infection during pregnancy (2). Although the ascertainment methods differed, this finding was approximately 20 times higher than the proportion of one or more of the same birth defects among pregnancies during the pre-Zika years. These data demonstrate the importance of population-based surveillance for interpreting data about birth defects potentially related to Zika virus infection. |
Population-based microcephaly surveillance in the United States, 2009 to 2013: An analysis of potential sources of variation
Cragan JD , Isenburg JL , Parker SE , Alverson CJ , Meyer RE , Stallings EB , Kirby RS , Lupo PJ , Liu JS , Seagroves A , Ethen MK , Cho SJ , Evans M , Liberman RF , Fornoff J , Browne ML , Rutkowski RE , Nance AE , Anderka M , Fox DJ , Steele A , Copeland G , Romitti PA , Mai CT . Birth Defects Res A Clin Mol Teratol 2016 106 (11) 972-982 BACKGROUND: Congenital microcephaly has been linked to maternal Zika virus infection. However, ascertaining infants diagnosed with microcephaly can be challenging. METHODS: Thirty birth defects surveillance programs provided data on infants diagnosed with microcephaly born 2009 to 2013. The pooled prevalence of microcephaly per 10,000 live births was estimated overall and by maternal/infant characteristics. Variation in prevalence was examined across case finding methods. Nine programs provided data on head circumference and conditions potentially contributing to microcephaly. RESULTS: The pooled prevalence of microcephaly was 8.7 per 10,000 live births. Median prevalence (per 10,000 live births) was similar among programs using active (6.7) and passive (6.6) methods; the interdecile range of prevalence estimates was wider among programs using passive methods for all race/ethnicity categories except Hispanic. Prevalence (per 10,000 live births) was lowest among non-Hispanic Whites (6.5) and highest among non-Hispanic Blacks and Hispanics (11.2 and 11.9, respectively); estimates followed a U-shaped distribution by maternal age with the highest prevalence among mothers <20 years (11.5) and ≥40 years (13.2). For gestational age and birth weight, the highest prevalence was among infants <32 weeks gestation and infants <1500 gm. Case definitions varied; 41.8% of cases had an HC ≥ the 10th percentile for sex and gestational age. CONCLUSION: Differences in methods, population distribution of maternal/infant characteristics, and case definitions for microcephaly can contribute to the wide range of observed prevalence estimates across individual birth defects surveillance programs. Addressing these factors in the setting of Zika virus infection can improve the quality of prevalence estimates. |
Validating assisted reproductive technology self-report
Liberman RF , Stern JE , Luke B , Reefhuis J , Anderka M . Epidemiology 2014 25 (5) 773-5 The use of fertility-enhancing therapies, including assisted reproductive technologies (ART), has more than doubled in the United States between 1996 and 2005.1 Approximately 1.4% of United States live births and 4.3% of Massachusetts live births are conceived using ART.2 Several studies have noted an increased risk of birth defects in ART pregnancies compared with spontaneous pregnancies.3,4 | Previous attempts to validate maternal self-reported ART have shown mixed results. A Danish study demonstrated sensitivity of 83% for assisted conception.5 However, maternal self-report in the Pregnancy Risk Assessment Monitoring System in the United States overestimated ART use when compared with clinic-reported data.6 | We compared self-reported ART use among Massachusetts participants in the National Birth Defects Prevention Study (NBDPS) with data from ART clinics. The NBDPS is a population-based, multi-center case-control study of birth defects, with exposure information collected by maternal interview.3, 7 The Society for Assisted Reproductive Technology (SART) collects ART procedure information from clinics, providing a gold standard for comparison with self-reported information. The SART database contains information from over 91% of ART clinics in the United States, with validation conducted annually.2 All Massachusetts ART clinics report to SART. SART records have been linked to vital records for Massachusetts deliveries as part of a project to evaluate ART outcomes.8 |
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