Birth Defects Research. Part A, Clinical And Molecular Teratology[JOURNAL]

Ailes EC, Gilboa SM, Gill SK … +8 more , Broussard CS, Crider KS, Berry RJ, Carter TC, Hobbs CA, Interrante JD, Reefhuis J, and The National Birth Defects Prevention Study

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891788 · Full text

BACKGROUND: Previous studies noted associations between birth defects and some antibiotics (e.g., nitrofurantoin, sulfonamides) but not others (e.g., penicillins). It is unclear if previous findings were due to antibioti... BACKGROUND: Previous studies noted associations between birth defects and some antibiotics (e.g., nitrofurantoin, sulfonamides) but not others (e.g., penicillins). It is unclear if previous findings were due to antibiotic use, infections, or chance. To control for potential confounding by indication, we examined associations between antibiotic use and birth defects, among women reporting urinary tract infections (UTIs). METHODS: The National Birth Defects Prevention Study is a multi-site, population-based case-control study. Case infants/fetuses have any of over 30 major birth defects and controls are live-born infants without major birth defects. We analyzed pregnancies from 1997 to 2011 to estimate the association between maternally reported periconceptional (month before conception through the third month of pregnancy) use of nitrofurantoin, trimethoprim-sulfamethoxazole, or cephalosporins and specific birth defects, among women with periconceptional UTIs. Women with periconceptional UTIs who reported penicillin use served as the comparator. RESULTS: Periconceptional UTIs were reported by 7.8% (2029/26,068) of case and 6.7% (686/10,198) of control mothers. Most (68.2% of case, 66.6% of control mothers) also reported antibiotic use. Among 608 case and 231 control mothers reporting at least one periconceptional UTI and certain antibiotic use, compared with penicillin, nitrofurantoin use was associated with oral clefts in the offspring (adjusted odds ratio, 1.97 [95% confidence interval, 1.10-3.53]), trimethoprim-sulfamethoxazole use with esophageal atresia (5.31 [1.39-20.24]) and diaphragmatic hernia (5.09 [1.20-21.69]), and cephalosporin use with anorectal atresia/stenosis (5.01 [1.34-18.76]). CONCLUSION: Periconceptional exposure to some antibiotics might increase the risk for certain birth defects. However, because individual birth defects are rare, absolute risks should drive treatment decisions.Birth Defects Research (Part A) 106:940-949, 2016.© 2016 Wiley Periodicals, Inc.

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Evaluation of the Western Australian Register of Developmental Anomalies: Thirty-five years of surveillance.

Nembhard WN, Bower C

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891787 · Publisher ↗

BACKGROUND: The birth defects component of the Western Australian Register for Developmental Anomalies (WARDA-BD) was evaluated to assess its efficiency, effectiveness, and data quality. METHODS: WARDA-BD was evaluated u... BACKGROUND: The birth defects component of the Western Australian Register for Developmental Anomalies (WARDA-BD) was evaluated to assess its efficiency, effectiveness, and data quality. METHODS: WARDA-BD was evaluated using the Centers for Disease Control and Prevention Guidelines for Evaluating Public Health Surveillance Systems and Data Quality Standards from the National Birth Defects Prevention Network. The evaluation included interviews with Register staff, local community organizations, parents, clinicians, and researchers; process observation; and secondary data analyses. RESULTS: WARDA-BD is a statutory, statewide, population-based surveillance system established in 1980 that monitors approximately 30,000 births annually. Identification of eligible cases is for children up to age 6 years through active and passive ascertainment methods from multiple sources including birth, death, and hospitalization data; antenatal ultrasonography; hospital unit logs; medical records; fetal medicine departments; cytogenetic laboratories; specialty clinics; and pediatric surgery and pathology departments. Defect diagnoses are verified and coded using the 5-digit British Paediatric Association extension of the International Classification of Disease, Ninth Revision system. Register staff monitor Register data for completeness and accuracy resulting in high quality data with a low percentage of missing items. CONCLUSION: Strengths of WARDA-BD include high data quality, timeliness, representativeness, stable funding, active community engagement, and high staff retention. Its data were used in numerous epidemiologic investigations resulting in >325 peer-reviewed publications. Potential weaknesses include the limited number of variables collected and low visibility. Although WARDA-BD uses labor intensive case ascertainment and quality assurance and control processes, the Register provides accurate and essential data for stakeholders. Birth Defects Research (Part A) 106:894-904, 2016. © 2016 Wiley Periodicals, Inc.

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A quality assessment of reporting sources for microcephaly in Utah, 2003 to 2013.

Steele A, Johnson J, Nance A … +3 more , Satterfield R, Alverson CJ, Mai C

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891786 · Full text

BACKGROUND: Obtaining accurate microcephaly prevalence is important given the recent association between microcephaly and Zika virus. Assessing the quality of data sources can guide surveillance programs as they focus th... BACKGROUND: Obtaining accurate microcephaly prevalence is important given the recent association between microcephaly and Zika virus. Assessing the quality of data sources can guide surveillance programs as they focus their data collection efforts. The Utah Birth Defect Network (UBDN) has monitored microcephaly by data sources since 2003. The objective of this study was to examine the impact of reporting sources for microcephaly surveillance. METHODS: All reported cases of microcephaly among Utah mothers from 2003 to 2013 were clinically reviewed and confirmed. The UBDN database was linked to state vital records and hospital discharge data for analysis. Reporting sources were analyzed for positive predictive value and sensitivity. RESULTS: Of the 477 reported cases of microcephaly, 251 (52.6%) were confirmed as true cases. The UBDN identified 94 additional cases that were reported to the surveillance system as another birth defect, but were ultimately determined to be true microcephaly cases. The prevalence for microcephaly based on the UBDN medical record abstraction and clinical review was 8.2 per 10,000 live births. Data sources varied in the number and accuracy of reporting, but a case was more likely to be a true case if identified from multiple sources than from a single source. CONCLUSION: While some reporting sources are more likely to identify possible and true microcephaly cases, maintaining a multiple source methodology allows for more complete case ascertainment. Surveillance programs should conduct periodic assessments of data sources to ensure their systems are capturing all possible birth defects cases. Birth Defects Research (Part A) 106:983-988, 2016. © 2016 Wiley Periodicals, Inc.

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Editorial brain malformation surveillance in the Zika era.

Trevathan E

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891785 · Full text

The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital micro... The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection. Furthermore, many infants with normal head circumference and with malformations of the brain cortex do not have clinical manifestations of their congenital malformations until several months to many years after birth, when they present with clinical manifestations such as seizures/epilepsy, developmental delays with or without developmental regression, and/or motor impairment. In response to the ZIKV threat, public health surveillance systems must be enhanced to ascertain a wide variety of congenital brain malformations, as well as their clinical manifestations that lead to diagnostic brain imaging. Birth Defects Research (Part A) 106:869-874, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc.

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Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research.

Heike CL, Wallace E, Speltz ML … +7 more , Siebold B, Werler MM, Hing AV, Birgfeld CB, Collett BR, Leroux BG, Luquetti DV

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891784 · Full text

BACKGROUND: Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within t... BACKGROUND: Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features. METHODS: Participants were enrolled between 1996 and 2002. We classified the facial phenotype from photographs, ratings using a modified version of the Orbital, Ear, Mandible, Nerve, Soft tissue (OMENS) pictorial system, data from medical record abstraction, and health history questionnaires. RESULTS: The participant sample included 142 cases and 290 controls. The average age was 13.5 years (standard deviation, 1.3 years; range, 11.1-17.1 years). Sixty-one percent of cases were male, 74% were white non-Hispanic. Among cases, the most common features were microtia (66%) and mandibular hypoplasia (50%). Case subgroups with meaningful group definitions included: (1) microtia without other CFM-related features (n = 24), (2) microtia with mandibular hypoplasia (n = 46), (3) other combinations of CFM- related facial features (n = 51), and (4) atypical features (n = 21). CONCLUSION: We developed a standardized approach for integrating multiple data sources to phenotype individuals with CFM, and created subgroups based on clinically-meaningful, shared characteristics. We hope that this system can be used to explore associations between phenotype and clinical outcomes of children with CFM and to identify the etiology of CFM. Birth Defects Research (Part A) 106:915-926, 2016.© 2016 Wiley Periodicals, Inc.

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Population-based microcephaly surveillance in the United States, 2009 to 2013: An analysis of potential sources of variation.

Cragan JD, Isenburg JL, Parker SE … +22 more , 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, National Birth Defects Prevention Network

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891783 · Full text

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 prov... 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 10 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. Birth Defects Research (Part A) 106:972-982, 2016. © 2016 Wiley Periodicals, Inc.

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Using state and provincial surveillance programs to reduce risk of recurrence of neural tube defects in the United States and Canada: A missed opportunity?

Flood TJ, Rienks CM, Flores AL … +5 more , Mai CT, Frohnert BK, Rutkowski RE, Evans JA, Kirby RS

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891782 · Full text

BACKGROUND: Once a woman has had a fetus or infant affected with a neural tube defect (NTD), the risk of recurrence is approximately 3%. This risk can be significantly reduced by folic acid supplement consumption during... BACKGROUND: Once a woman has had a fetus or infant affected with a neural tube defect (NTD), the risk of recurrence is approximately 3%. This risk can be significantly reduced by folic acid supplement consumption during the periconceptional period; however, this requires women at risk to be adequately informed about the appropriate dosage and timing of supplement intake before planning another pregnancy. As birth defects surveillance programs are tasked with identifying and documenting NTD-affected pregnancies and births, they are in a unique position to support recurrence prevention activities. METHODS: In 2015, we surveyed state and provincial birth defects surveillance programs to assess their NTD recurrence prevention activities. The online survey was sent to programs in 52 United States (U.S.) jurisdictions and all 13 provinces and territories in Canada. Findings were compared with a similar survey conducted in 2005 among U.S. programs. RESULTS: In 2015, of the 44 U.S. and Canadian surveillance programs that responded, only 9 programs (7 U.S. and 2 Canadian) reported currently having activities specifically directed toward preventing NTD recurrence. Compared with a 2005 survey of U.S. programs, the number of U.S. programs working on NTD recurrence prevention decreased by almost 50% (from 13 to 7 programs). CONCLUSION: The number of birth defects surveillance programs with NTD recurrence prevention activities has decreased over the past decade due to a range of barriers, most notably a lack of resources. However, while some recurrence prevention activities require part-time staff, other activities could be accomplished using minimal resources. Birth Defects Research (Part A) 106:875-880, 2016.© 2016 Wiley Periodicals, Inc.

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Geographic distribution of live births with tetralogy of Fallot in North Carolina 2003 to 2012.

Nelson JS, Stebbins RC, Strassle PD … +1 more , Meyer RE

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891781 · Publisher ↗

BACKGROUND: Geographic variation in congenital heart disease is not well-described. This study uses geographic information systems (GIS) to describe the spatial epidemiology of tetralogy of Fallot (TOF), in North Carolin... BACKGROUND: Geographic variation in congenital heart disease is not well-described. This study uses geographic information systems (GIS) to describe the spatial epidemiology of tetralogy of Fallot (TOF), in North Carolina (NC) and to compare travel time for cases to congenital heart centers in NC. METHODS: Using the NC Birth Defects Monitoring Program database, live births with TOF born between 2003 and 2012 were identified. Birth certificates provided demographic variables. A denominator of live births/zip code was obtained from the NC live births database. ArcGIS® software was used to illustrate TOF prevalence by zip code, and SatScanTM was used to identify spatial clusters of TOF cases and to identify changes in cluster location over time. Driving time to each of five NC congenital heart centers was predicted based on road systems information. RESULTS: A total of 496 infants were born with TOF between 2003 and 2012. The prevalence was 4.2/10,000 live births. A large cluster (330 zip codes, 306 cases) was identified in northeastern NC. Average driving time for each case to closest congenital heart center was: University of North Carolina 37 min, Vident Medical Center 64 min, Duke University 58 min, Carolina's Medical Center 89 min, and Wake Forest Baptist Health 57 min. Overall, average predicted driving time to the nearest congenital heart center was 61 min. CONCLUSION: Approximately 50 infants/year were born with TOF in NC. One cluster was identified. Further study is necessary to explore potential explanations for the observed case cluster. As interest in regionalization of congenital heart surgery grows, GIS and spatial analysis can become increasingly useful tools for health care planning. Birth Defects Research (Part A) 106:881-887, 2016. © 2016 Wiley Periodicals, Inc.

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ICD-10-based expanded code set for use in cleft lip/palate research and surveillance.

Allori AC, Cragan JD, Cassell CH … +1 more , Marcus JR

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891780 · Publisher ↗

BACKGROUND: On October 1, 2015, the United States required use of the Clinical Modification of the International Classification of Diseases, 10 Revision (ICD-10-CM) for diagnostic coding. The ICD-10-CM code set is limite... BACKGROUND: On October 1, 2015, the United States required use of the Clinical Modification of the International Classification of Diseases, 10 Revision (ICD-10-CM) for diagnostic coding. The ICD-10-CM code set is limited to gross categories for cleft lip and/or cleft palate (using only four of a possible seven characters). METHODS: Herein, a clinically useful expansion of the ICD-10-CM code set is proposed to improve the diagnostic accuracy necessary for individual clinical, research, and statistical projects that require it. (This is similar to how the Centers for Disease Control and Prevention/British Paediatric Association Code served to extend the ICD-9 code base.) RESULTS: Our proposed expansion does not replace the required use of ICD-10-CM for clinical, administrative, or financial transactions. Rather, it is offered as an optional set of cleft codes that could be used in parallel to document true classification-level data with phenotypic accuracy. CONCLUSION: The expanded set is "collapsible" into the official ICD-10-CM codes; this improves compatibility of the expanded codes that would be contained in research and epidemiologic databases with the standard codes from hospital electronic medical record systems and administrative billing data. Birth Defects Research (Part A) 106:905-914, 2016. © 2016 Wiley Periodicals, Inc.

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Using insurance claims data to identify and estimate critical periods in pregnancy: An application to antidepressants.

Ailes EC, Simeone RM, Dawson AL … +2 more , Petersen EE, Gilboa SM

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891779 · Full text

BACKGROUND: Health insurance claims are a rich data source to examine medication use in pregnancy. Our objective was to identify pregnant women, their pregnancy outcomes, and date of their last menstrual period (LMP), an... BACKGROUND: Health insurance claims are a rich data source to examine medication use in pregnancy. Our objective was to identify pregnant women, their pregnancy outcomes, and date of their last menstrual period (LMP), and to estimate antidepressant dispensations in pregnancy. METHODS: From a literature search, we identified diagnosis and procedure codes indicating the end of a pregnancy. Using Truven Health MarketScan Commercial Claims and Encounters Databases, we identified all inpatient admissions and outpatient service claims with these codes. We developed an algorithm to assign: (1) pregnancy outcome (ectopic pregnancy, induced or spontaneous abortion, live birth, or stillbirth), and (2) estimated gestational age, to each inpatient or outpatient visit. For each pregnancy outcome, we estimated the LMP as the admission (for inpatient visits) or service (for outpatient visits) date minus the gestational age. To differentiate visits associated with separate pregnancies, we required ≥ 2 months between one pregnancy outcomes and the LMP of the next pregnancy. We used this algorithm to identify pregnancies in 2013 and to estimate the proportion of women who filled a prescription for an antidepressant from an outpatient pharmacy at various time points in pregnancy. RESULTS: We identified 488,887 pregnancies in 2013; 79% resulted in a live birth. A prescription for an antidepressant was filled in 6.2% of pregnancies. Dispensations varied throughout pregnancy and were lowest (3.1%) during the second trimester. CONCLUSION: This work will inform future efforts to estimate medication dispensations during critical periods of preconception, interconception, and pregnancy using health insurance claims data. Birth Defects Research (Part A) 106:927-934, 2016. © 2016 Wiley Periodicals, Inc.

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Paternal and joint parental occupational pesticide exposure and spina bifida in the National Birth Defects Prevention Study, 1997 to 2002.

Pettigrew SM, Bell EM, Van Zutphen AR … +10 more , Rocheleau CM, Shaw GM, Romitti PA, Olshan A, Lupo PJ, Soim A, Makelarski JA, Michalski AM, Sanderson W, and the National Birth Defects Prevention Study

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891778 · Full text

BACKGROUND: Because of persistent concerns over the association between pesticides and spina bifida, we examined the role of paternal and combined parental occupational pesticide exposures in spina bifida in offspring us... BACKGROUND: Because of persistent concerns over the association between pesticides and spina bifida, we examined the role of paternal and combined parental occupational pesticide exposures in spina bifida in offspring using data from a large population-based study of birth defects. METHODS: Occupational information from fathers of 291 spina bifida cases and 2745 unaffected live born control infants with estimated dates of delivery from 1997 to 2002 were collected by means of maternal report. Two expert industrial hygienists estimated exposure intensity and frequency to insecticides, herbicides, and fungicides. Multivariable logistic regression models were used to estimate adjusted odds ratios (aOR) and 95% confidence intervals (CI) for exposure to any pesticide and to any class of pesticide (yes/no; and by median), and exposure to combinations of pesticides (yes/no) and risk of spina bifida. Adjusted odds ratios were also estimated by parent exposed to pesticides (neither, mother only, father only, both parents). RESULTS: Joint parental occupational pesticide exposure was positively associated with spina bifida (aOR, 1.5; 95% CI, 0.9-2.4) when compared with infants with neither maternal nor paternal exposures; a similar association was not observed when only one parent was exposed. There was a suggested positive association between combined paternal insecticide and fungicide exposures and spina bifida (aOR, 1.5; 95% CI, 0.8-2.8), however, nearly all other aORs were close to unity. CONCLUSION: Overall, there was little evidence paternal occupational pesticide exposure was associated with spina bifida. However, the small numbers make it difficult to precisely evaluate the role of pesticide classes, individually and in combination. Birth Defects Research (Part A) 106:963-971, 2016. © 2016 Wiley Periodicals, Inc.

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Maternal autoimmune disease and birth defects in the National Birth Defects Prevention Study.

Howley MM, Browne ML, Van Zutphen AR … +6 more , Richardson SD, Blossom SJ, Broussard CS, Carmichael SL, Druschel CM, National Birth Defects Prevention Study

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891777 · Full text

BACKGROUND: Little is known about the association between maternal autoimmune disease or its treatment and the risk of birth defects. We examined these associations using data from the National Birth Defects Prevention S... BACKGROUND: Little is known about the association between maternal autoimmune disease or its treatment and the risk of birth defects. We examined these associations using data from the National Birth Defects Prevention Study, a multi-site, population-based, case-control study. METHODS: Analyses included 25,116 case and 9897 unaffected control infants with estimated delivery dates between 1997 and 2009. Information on autoimmune disease, medication use, and other pregnancy exposures was collected by means of telephone interview. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for birth defects with five or more exposed cases; crude ORs and exact 95% CIs were estimated for birth defects with three to four exposed cases. RESULTS: Autoimmune disease was reported by 373 mothers (279 case and 94 control mothers). The majority of birth defects evaluated were not associated with autoimmune disease; however, a statistically significant association between maternal autoimmune disease and encephalocele was observed (OR, 4.64; 95% CI, 1.95-11.04). Eighty-two mothers with autoimmune disease used an immune modifying/suppressing medication during pregnancy; this was associated with encephalocele (OR, 7.26; 95% CI, 1.37-24.61) and atrial septal defects (OR, 3.01; 95% CI, 1.16-7.80). CONCLUSION: Our findings suggest maternal autoimmune disease and treatment are not associated with the majority of birth defects, but may be associated with some defects, particularly encephalocele. Given the low prevalence of individual autoimmune diseases and the rare use of specific medications, we were unable to examine associations of specific autoimmune diseases and medications with birth defects. Other studies are needed to confirm these findings. Birth Defects Research (Part A) 106:950-962, 2016. © 2016 Wiley Periodicals, Inc.

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Editorial advances in population-based birth defects surveillance, epidemiology, and public health practice.

Kirby RS, Browne ML

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891776 · Publisher ↗

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Surveillance of ventricular septal defects in Delaware.

Acheson A, Vaidy A, Stomieroski K … +7 more , Thompson DR, Maiden KM, Ehrenthal DB, Yezdani S, Bhat AM, Locke R, Bartoshesky LE

Birth Defects Res A Clin Mol Teratol · 2016 Nov · PMID 27891775 · Publisher ↗

BACKGROUND: The prevalence of ventricular septal defects (VSDs), a birth defect in which there is an opening in the wall that separates the left and right ventricles of the heart, seemed to be substantially higher in Del... BACKGROUND: The prevalence of ventricular septal defects (VSDs), a birth defect in which there is an opening in the wall that separates the left and right ventricles of the heart, seemed to be substantially higher in Delaware compared with the National Birth Defects Prevention Network (NBDPN). The Delaware Birth Defects Registry (BDR) noted their high prevalence of VSDs in comparison with other states. METHODS: A subset of children with a VSD born in 2007 through 2010 was identified from the complete reportable statewide defect list that the BDR creates each year. VSDs were categorized by type of VSD (muscular, perimembranous, conotruncal, or atrioventricular septal defect), by either isolated or complex, and then by spontaneously closed, surgically closed, open but clinically insignificant, lost to follow-up, fetal or neonatal death. RESULTS: The BDR team found a prevalence of VSD of 83.4 per 10,000 including fetal/neonatal deaths. Excluding fetal and neonatal deaths the prevalence was 78.7 per 10,000 live births. Excluding small muscular VSDs, the prevalence in Delaware falls to 25.7 per 10,000. CONCLUSION: The BDR team chose to include all babies with all types of VSDs. Using these criteria Delaware's prevalence of 78.7 was higher than that reported by other states (whose prevalence ranges from 1.6 to 70.0 per 10,000 live births) (National Birth Defects Prevention Network, ). Delaware's prevalence is similar to other states when small muscular VSDs are excluded. Birth Defects Research (Part A) 106:888-893, 2016. © 2016 Wiley Periodicals, Inc.

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Twenty-five-year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010.

Nembhard WN, Bourke J, Leonard H … +3 more , Eckersley L, Li J, Bower C

Birth Defects Res A Clin Mol Teratol · 2016 Dec · PMID 27801971 · Publisher ↗

BACKGROUND: Australian Aboriginal children have increased infant and childhood mortality compared with Caucasian children, but their mortality related to congenital heart defects (CHDs) throughout life is unknown. METHOD... BACKGROUND: Australian Aboriginal children have increased infant and childhood mortality compared with Caucasian children, but their mortality related to congenital heart defects (CHDs) throughout life is unknown. METHODS: We conducted a retrospective cohort study using data on 8,110 live born, singleton infants with CHDs born January 1980 to December 2010 from the Western Australian Register of Developmental Anomalies. Vital status was determined from death and medical records. Data for infants with chromosomal anomalies (except Down syndrome) were excluded. Kaplan-Meier Product-Limit estimates and 95% confidence intervals (CIs) were computed by Aboriginality. Hazard ratios (HRs) and 95% CIs were calculated from multivariable Cox-Proportional Hazard Regression models. RESULTS: Aboriginal children had lower survival than Caucasians for all CHDs combined but most notably during the neonatal period for functional single ventricle (50.0% vs. 86.1%; p = 0.015) and during the postneonatal period for tetralogy of Fallot (87.0% vs. 97.4%; p = 0.021) and atrioventricular septal defect (60.0% vs. 94.6%; p = 0.010). After adjusting for covariates except remoteness and socioeconomic status (SES), Aboriginal children with all CHDs combined (HR = 1.4; 95% CI, 1.0-1.9), with transposition of the great arteries (HR = 4.3; 95% CI, 1.0-18.9) or functional single ventricle (HR = 8.6; 95% CI, 1.3-57.9) had increased risk of mortality compared with Caucasian children. When remoteness and SES were included, the risks were not statistically significant. CONCLUSION: Long-term survival was lower for Aboriginal children with CHDs, and Aboriginal children with specific CHD phenotypes had increased risk of mortality throughout life. Increased risk may be due to SES and environmental factors. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:1016-1031, 2016. © 2016 Wiley Periodicals, Inc.

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Changing of the guards: EMA warning on paternal use of mycophenolate mofetil: An unnecessary and insufficiently substantiated precaution.

Damkier P, Passier A, Bo Petersen L … +2 more , Havnen G, Thestrup Pedersen AJ

Birth Defects Res A Clin Mol Teratol · 2016 Oct · PMID 27678452 · Publisher ↗

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Birth Defects Research. Part A, Clinical And Molecular Teratology[JOURNAL]

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