Thyroid Medication Use and Birth Defects in the National Birth Defects Prevention Study.

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Howley, Meredith M; Fisher, Sarah C; Van Zutphen, Alissa R; Waller, Dorothy K; Carmichael, Suzan L; Browne, Marilyn L

2017-11-01

Thyroid disorders are common among reproductive-aged women, with hypothyroidism affecting 2 to 3% of pregnancies, and hyperthyroidism affecting an additional 0.1 to 1%. We examined associations between thyroid medications and individual birth defects using data from the National Birth Defects Prevention Study (NBDPS). The NBDPS is a multisite, population-based, case-control study that included pregnancies with estimated delivery dates from 1997 to 2011. We analyzed self-reported thyroid medication use from mothers of 31,409 birth defect cases and 11,536 unaffected controls. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using logistic regression for birth defects with five or more exposed cases, controlling for maternal age, race/ethnicity, and study center. Crude ORs and exact 95% CIs were estimated for defects with 3 to 4 exposed cases. Thyroid hormone was used by 738 (2.3%) case and 237 (2.1%) control mothers, and was associated with anencephaly (OR = 1.68; 95% CI, 1.03-2.73), holoprosencephaly (OR = 2.48; 95% CI, 1.13-5.44), hydrocephaly (1.77; 95% CI, 1.07-2.95) and small intestinal atresia (OR = 1.81; 95% CI, 1.04-3.15). Anti-thyroid medication was used by 34 (0.1%) case and 10 (<0.1%) control mothers, and was associated with aortic valve stenosis (OR = 6.91; 95% CI, 1.21-27.0). While new associations were identified, our findings are relatively consistent with previous NBDPS analyses. Our findings suggest thyroid medication use is not associated with most birth defects studied in the NBDPS, but may be associated with some specific birth defects. These results should not be interpreted to suggest that medications used to treat thyroid disease are teratogens, as the observed associations may reflect effects of the underlying thyroid disease. Birth Defects Research 109:1471-1481, 2017.© 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Preventive program of birth defects: incidence of anencephaly in Maracaibo, Venezuela. 1993-1996 period

International Nuclear Information System (INIS)

Moreno Fuenmayor, H; Valera, V; Socorro Candanoza, L; Bracho, A; Herrera, M; Rodriguez, Z; Concho, E

1996-01-01

Incidence of anencephaly in the State of Zulia, and specifically in the Eastern Coast of Lake Maracaibo, an oil exploitation area, has been declared high since the beginning of the 80's, coincident with the generalized use of ultrasound as a diagnostic tool for fetal evaluation. Through the Birth Defects Preventive Program, established at the Hospital Chiquinquira in Maracaibo, we have developed a fourfold strategy for the study of birth defects: i) analysis of more than 32,332 ultrasound evaluations within the Ultrasound Service, between 1993 and 1996, ii) a case-control malformation registry beginning in 1995, iii) a study of malformed stillbirths at the Pathology Service, observed after 4232 deliveries within this hospital, and iv) a registry of over 638 mothers with high risk pregnancy for fetal defects detected at the prenatal clinic and carried out at the Perinatal Medical Genetics Service. As a reference population we study 345 medical histories obtained from the Medical Genetics and Prenatal Diagnostic Service at Hospital Coromoto, and oil companies related medical facility. This approach has led us to conclude that the incidence of anencephaly in the State of Zulia is 0.75/1000, significantly similar to that expected for most populations

A population-based analysis of mortality in patients with Turner syndrome and hypoplastic left heart syndrome using the Texas Birth Defects Registry.

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Lara, Diego A; Ethen, Mary K; Canfield, Mark A; Nembhard, Wendy N; Morris, Shaine A

2017-01-01

Hypoplastic left heart syndrome (HLHS) is strongly associated with Turner syndrome (TS); outcome data when these conditions coexist is sparse. We aimed to investigate long-term survival and causes of death in this population. The Texas Birth Defects Registry was queried for all live born infants with HLHS during 1999-2007. We used Kaplan-Meier and Cox regression analyses to compare survival among patients with HLHS with TS (HLHS/TS+) to patients who had HLHS without genetic disorders or extracardiac birth defects (HLHS/TS-). Of the 542 patients with HLHS, 11 had TS (2.0%), 71 had other extracardiac birth defects or genetic disorders, and 463 had neither. The median follow-up time was 4.2 y (interquartile range [IQR] 2.1-6.5). Comparing those with HLHS/TS+ to HLHS/TS-, 100% versus 35% were female (P < .001), and median birth weight was 2140 g (IQR 1809-2650) versus 3196 g (IQR 2807-3540, P < .001). Neonatal mortality was 36% in HLHS/TS+ versus 27% in HLHS/TS- (log rank = 0.431). Ten of the 11 TS+ patients died during the study period for cumulative mortality of 91% versus 50% (hazard ratio (HR) for TS+: 2.90, 95% CI 1.53-5.48). Six patients died prior to surgery, 5 underwent Stage 1 palliation (S1P), 3 died after S1P, 2 survived past S2P, and one of these died at age 19 mo. The underlying cause of death was listed as congenital heart disease on all the death certificates of HLHS/TS+ patients. In multivariable analysis controlling for low birth weight (<2500 g), TS remained associated with significantly increased cumulative mortality, although females without TS had higher mortality than males (HR for TS+ versus males: 2.42, 95% CI 1.24-4.73; HR for TS- females versus males: 1.41, 95% CI 1.08-1.83). TS with HLHS is associated with significant mortality. The increased mortality in females without documented TS calls to question if TS is undetected in a portion of females with HLHS. © 2016 Wiley Periodicals, Inc.

Magnitude of Birth Defects in Central and Northwest Ethiopia from 2010-2014: A Descriptive Retrospective Study.

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Molla Taye

birth defects and 5,801 (95.5% isolated (single birth defects. Out of the total birth defects, 6,018 (99% were major and 58 (1% minor.The magnitude of birth defects increased from 2010-2014. Orofacial and neural tube defects contributed about two thirds of the birth defects. There is an urgent need for registry and surveillance system strategies for intervention and control of birth defects in Ethiopia.

Laterality defects in the national birth defects prevention study 1998-2007 birth prevalence and descriptive epidemiology

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Little is known epidemiologically about laterality defects. Using data from the National Birth Defects Prevention Study (NBDPS), a large multi-site case-control study of birth defects, we analyzed prevalence and selected characteristics in children born with laterality defects born from 1998 to 2007...

International retrospective cohort study of neural tube defects in relation to folic acid recommendations : are the recommendations working?

NARCIS (Netherlands)

Botto, LD; Lisi, A; Robert-Gnansia, E; Erickson, JD; Vollset, SE; Mastroiacovo, P; Botting, B; Cocchi, G; de Vigan, C; de Walle, H; Feijoo, M; Irgens, LM; McDonnell, B; Merlob, P; Ritvanen, A; Scarano, G; Siffel, C; Metneki, J; Stoll, C; Smithells, R; Goujard, J

2005-01-01

Objective To evaluate the effectiveness of policies and recommendations on folic acid aimed at reducing the occurrence of neural tube defects. Design Retrospective cohort study of births monitored by birth defect registries. Setting 13 birth defects registries monitoring rates of neural tube defects

Statewide Quality Improvement Initiative to Reduce Early Elective Deliveries and Improve Birth Registry Accuracy.

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Kaplan, Heather C; King, Eileen; White, Beth E; Ford, Susan E; Fuller, Sandra; Krew, Michael A; Marcotte, Michael P; Iams, Jay D; Bailit, Jennifer L; Bouchard, Jo M; Friar, Kelly; Lannon, Carole M

2018-04-01

To evaluate the success of a quality improvement initiative to reduce early elective deliveries at less than 39 weeks of gestation and improve birth registry data accuracy rapidly and at scale in Ohio. Between February 2013 and March 2014, participating hospitals were involved in a quality improvement initiative to reduce early elective deliveries at less than 39 weeks of gestation and improve birth registry data. This initiative was designed as a learning collaborative model (group webinars and a single face-to-face meeting) and included individual quality improvement coaching. It was implemented using a stepped wedge design with hospitals divided into three balanced groups (waves) participating in the initiative sequentially. Birth registry data were used to assess hospital rates of nonmedically indicated inductions at less than 39 weeks of gestation. Comparisons were made between groups participating and those not participating in the initiative at two time points. To measure birth registry accuracy, hospitals conducted monthly audits comparing birth registry data with the medical record. Associations were assessed using generalized linear repeated measures models accounting for time effects. Seventy of 72 (97%) eligible hospitals participated. Based on birth registry data, nonmedically indicated inductions at less than 39 weeks of gestation declined in all groups with implementation (wave 1: 6.2-3.2%, Pinitiative, they saw significant decreases in rates of early elective deliveries as compared with wave 3 (control; P=.018). All waves had significant improvement in birth registry accuracy (wave 1: 80-90%, P=.017; wave 2: 80-100%, P=.002; wave 3: 75-100%, Pinitiative enabled statewide spread of change strategies to decrease early elective deliveries and improve birth registry accuracy over 14 months and could be used for rapid dissemination of other evidence-based obstetric care practices across states or hospital systems.

Teratology: from science to birth defects prevention.

Science.gov (United States)

Rasmussen, Sonja A; Erickson, J David; Reef, Susan E; Ross, Danielle S

2009-01-01

One of the goals of birth defects research is to better understand risk or preventive factors for birth defects so that strategies for prevention can be developed. In this article, we have selected four areas of birth defects research that have led to the development of prevention strategies. These areas include rubella virus as a cause of congenital rubella syndrome, folic acid as a preventive factor for neural tube defects, cytomegalovirus infection as a cause of birth defects and developmental disabilities, and alcohol as a cause of fetal alcohol spectrum disorders. For each of these areas, we review key clinical and research findings that led to the identification of the risk or preventive factor, milestones in the development of prevention strategies, and the progress made thus far toward prevention.

Agricultural Compounds in Water and Birth Defects.

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Brender, Jean D; Weyer, Peter J

2016-06-01

Agricultural compounds have been detected in drinking water, some of which are teratogens in animal models. The most commonly detected agricultural compounds in drinking water include nitrate, atrazine, and desethylatrazine. Arsenic can also be an agricultural contaminant, although arsenic often originates from geologic sources. Nitrate has been the most studied agricultural compound in relation to prenatal exposure and birth defects. In several case-control studies published since 2000, women giving birth to babies with neural tube defects, oral clefts, and limb deficiencies were more likely than control mothers to be exposed to higher concentrations of drinking water nitrate during pregnancy. Higher concentrations of atrazine in drinking water have been associated with abdominal defects, gastroschisis, and other defects. Elevated arsenic in drinking water has also been associated with birth defects. Since these compounds often occur as mixtures, it is suggested that future research focus on the impact of mixtures, such as nitrate and atrazine, on birth defects.

What we don't know can hurt us: Nonresponse bias assessment in birth defects research.

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Strassle, Paula D; Cassell, Cynthia H; Shapira, Stuart K; Tinker, Sarah C; Meyer, Robert E; Grosse, Scott D

2015-07-01

Nonresponse bias assessment is an important and underutilized tool in survey research to assess potential bias due to incomplete participation. This study illustrates a nonresponse bias sensitivity assessment using a survey on perceived barriers to care for children with orofacial clefts in North Carolina. Children born in North Carolina between 2001 and 2004 with an orofacial cleft were eligible for inclusion. Vital statistics data, including maternal and child characteristics, were available on all eligible subjects. Missing 'responses' from nonparticipants were imputed using assumptions based on the distribution of responses, survey method (mail or phone), and participant maternal demographics. Overall, 245 of 475 subjects (51.6%) responded to either a mail or phone survey. Cost as a barrier to care was reported by 25.0% of participants. When stratified by survey type, 28.3% of mail respondents and 17.2% of phone respondents reported cost as a barrier. Under various assumptions, the bias-adjusted estimated prevalence of cost as barrier to care ranged from 16.1% to 30.0%. Maternal age, education, race, and marital status at time of birth were not associated with subjects reporting cost as a barrier. As survey response rates continue to decline, the importance of assessing the potential impact of nonresponse bias has become more critical. Birth defects research is particularly conducive to nonresponse bias analysis, especially when birth defect registries and birth certificate records are used. Future birth defect studies which use population-based surveillance data and have incomplete participation could benefit from this type of nonresponse bias assessment. Birth Defects Research (Part A) 103:603-609, 2015. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

Baseline Prevalence of Birth Defects Associated with Congenital Zika Virus Infection - Massachusetts, North Carolina, and Atlanta, Georgia, 2013-2014.

Science.gov (United States)

Cragan, Janet D; Mai, Cara T; Petersen, Emily E; Liberman, Rebecca F; Forestieri, Nina E; Stevens, Alissa C; Delaney, Augustina; Dawson, April L; Ellington, Sascha R; Shapiro-Mendoza, Carrie K; Dunn, Julie E; Higgins, Cathleen A; Meyer, Robert E; Williams, Tonya; Polen, Kara N D; Newsome, Kim; Reynolds, Megan; Isenburg, Jennifer; Gilboa, Suzanne M; Meaney-Delman, Dana M; Moore, Cynthia A; Boyle, Coleen A; Honein, Margaret A

2017-03-03

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 malformations † (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.

Birth defects risk associated with maternal sport fish consumption: potential effect modification by sex of offspring.

Science.gov (United States)

Mendola, Pauline; Robinson, Luther K; Buck, Germaine M; Druschel, Charlotte M; Fitzgerald, Edward F; Sever, Lowell E; Vena, John E

2005-02-01

Contaminated sport fish consumption may result in exposure to various reproductive and developmental toxicants, including pesticides and other suspected endocrine disruptors. We investigated the relation between maternal sport fish meals and risk of major birth defects among infants born to members of the New York State (NYS) Angler Cohort between 1986 and 1991 (n=2237 births). Birth defects (n=125 cases) were ascertained from both newborn medical records and the NYS Congenital Malformations Registry. For sport fish meals eaten during pregnancy, the odds ratio (OR) for all major malformations combined was slightly elevated for or =2 meals/month (OR=1.51, CI=0.74, 3.09), with no meals during pregnancy as the reference category. Higher ORs were consistently observed among male offspring compared with females. For > or =2 meals/month, the risk for males was significantly elevated (males: OR=3.01, CI: 1.2, 7.5; females: OR=0.73, CI: 0.2, 2.4). Exposure during pregnancy and effect modification by infants sex could be important considerations for future studies of birth outcomes associated with endocrine disruptors.

Birth Defects Among Fetuses and Infants of US Women With Evidence of Possible Zika Virus Infection During Pregnancy.

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Honein, Margaret A; Dawson, April L; Petersen, Emily E; Jones, Abbey M; Lee, Ellen H; Yazdy, Mahsa M; Ahmad, Nina; Macdonald, Jennifer; Evert, Nicole; Bingham, Andrea; Ellington, Sascha R; Shapiro-Mendoza, Carrie K; Oduyebo, Titilope; Fine, Anne D; Brown, Catherine M; Sommer, Jamie N; Gupta, Jyoti; Cavicchia, Philip; Slavinski, Sally; White, Jennifer L; Owen, S Michele; Petersen, Lyle R; Boyle, Coleen; Meaney-Delman, Dana; Jamieson, Denise J

2017-01-03

Understanding the risk of birth defects associated with Zika virus infection during pregnancy may help guide communication, prevention, and planning efforts. In the absence of Zika virus, microcephaly occurs in approximately 7 per 10 000 live births. To estimate the preliminary proportion of fetuses or infants with birth defects after maternal Zika virus infection by trimester of infection and maternal symptoms. Completed pregnancies with maternal, fetal, or infant laboratory evidence of possible recent Zika virus infection and outcomes reported in the continental United States and Hawaii from January 15 to September 22, 2016, in the US Zika Pregnancy Registry, a collaboration between the CDC and state and local health departments. Laboratory evidence of possible recent Zika virus infection in a maternal, placental, fetal, or infant sample. Birth defects potentially Zika associated: brain abnormalities with or without microcephaly, neural tube defects and other early brain malformations, eye abnormalities, and other central nervous system consequences. Among 442 completed pregnancies in women (median age, 28 years; range, 15-50 years) with laboratory evidence of possible recent Zika virus infection, birth defects potentially related to Zika virus were identified in 26 (6%; 95% CI, 4%-8%) fetuses or infants. There were 21 infants with birth defects among 395 live births and 5 fetuses with birth defects among 47 pregnancy losses. Birth defects were reported for 16 of 271 (6%; 95% CI, 4%-9%) pregnant asymptomatic women and 10 of 167 (6%; 95% CI, 3%-11%) symptomatic pregnant women. Of the 26 affected fetuses or infants, 4 had microcephaly and no reported neuroimaging, 14 had microcephaly and brain abnormalities, and 4 had brain abnormalities without microcephaly; reported brain abnormalities included intracranial calcifications, corpus callosum abnormalities, abnormal cortical formation, cerebral atrophy, ventriculomegaly, hydrocephaly, and cerebellar abnormalities

Birth defects in children with newborn encephalopathy

NARCIS (Netherlands)

Felix, JF; Badawi, N; Kurinczuk, JJ; Bower, C; Keogh, JM; Pemberton, PJ

2000-01-01

This study was designed to investigate birth defects found in association with newborn encephalopathy. All possible birth defects were ascertained in a population-based study of 276 term infants with moderate or severe encephalopathy and 564 unmatched term control infants. A strong association

Maternal residential proximity to chlorinated solvent emissions and birth defects in offspring: a case-control study.

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Brender, Jean D; Shinde, Mayura U; Zhan, F Benjamin; Gong, Xi; Langlois, Peter H

2014-11-19

Some studies have noted an association between maternal occupational exposures to chlorinated solvents and birth defects in offspring, but data are lacking on the potential impact of industrial air emissions of these solvents on birth defects. With data from the Texas Birth Defects Registry for births occurring in 1996-2008, we examined the relation between maternal residential proximity to industrial air releases of chlorinated solvents and birth defects in offspring of 60,613 case-mothers and 244,927 control-mothers. Maternal residential exposures to solvent emissions were estimated with metrics that took into account residential distances to industrial sources and annual amounts of chemicals released. Logistic regression was used to generate odds ratios and 95% confidence intervals for the associations between residential proximity to emissions of 14 chlorinated solvents and selected birth defects, including neural tube, oral cleft, limb deficiency, and congenital heart defects. All risk estimates were adjusted for year of delivery and maternal age, education, race/ethnicity, and public health region of residence. Relative to exposure risk values of 0, neural tube defects were associated with maternal residential exposures (exposure risk values >0) to several types of chlorinated solvents, most notably carbon tetrachloride (adjusted odds ratio [aOR] 1.42, 95% confidence interval [CI] 1.09, 1.86); chloroform (aOR 1.40, 95% CI 1.04, 1.87); ethyl chloride (aOR 1.39, 95% CI 1.08, 1.79); 1,1,2-trichloroethane (aOR 1.56, 95% CI 1.11, 2.18); and 1,2,3-trichloropropane (aOR 1.49, 95% CI 1.08, 2.06). Significant associations were also noted between a few chlorinated solvents and oral cleft, limb deficiency, and congenital heart defects. We observed stronger associations between some emissions and neural tube, oral cleft, and heart defects in offspring of mothers 35 years or older, such as spina bifida with carbon tetrachloride (aOR 2.49, 95% CI 1.09, 5.72), cleft palate

An exploratory analysis of the relationship between ambient ozone and particulate matter concentrations during early pregnancy and selected birth defects in Texas

International Nuclear Information System (INIS)

Vinikoor-Imler, Lisa C.; Stewart, Thomas G.; Luben, Thomas J.; Davis, J. Allen; Langlois, Peter H.

2015-01-01

We performed an exploratory analysis of ozone (O 3 ) and fine particulate matter (PM 2.5 ) concentrations during early pregnancy and multiple types of birth defects. Data on births were obtained from the Texas Birth Defects Registry (TBDR) and the National Birth Defects Prevention Study (NBDPS) in Texas. Air pollution concentrations were previously determined by combining modeled air pollution concentrations with air monitoring data. The analysis generated hypotheses for future, confirmatory studies; although many of the observed associations were null. The hypotheses are provided by an observed association between O 3 and craniosynostosis and inverse associations between PM 2.5 and septal and obstructive heart defects in the TBDR. Associations with PM 2.5 for septal heart defects and ventricular outflow tract obstructions were null using the NBDPS. Both the TBDR and the NBPDS had inverse associations between O 3 and septal heart defects. Further research to confirm the observed associations is warranted. - Highlights: • Air pollution concentrations combined modeled air data and air monitoring data. • No associations were observed between the majority of birth defects and PM 2.5 and O 3 . • Estimated associations between PM 2.5 and certain heart defects varied by dataset. • Results were suggestive of an inverse association between O 3 and septal heart defects. • Higher O 3 concentrations may be associated with increased odds of craniosynostosis. - Although most observed associations between ozone and fine particulate matter concentrations and birth defects were null, some were present and warrant further consideration

Birth defects in infants born in 1998-2004 to men and women serving in the U.S. military during the 1990-1991 Gulf War era.

Science.gov (United States)

Bukowinski, Anna T; DeScisciolo, Connie; Conlin, Ava Marie S; K Ryan, Margaret A; Sevick, Carter J; Smith, Tyler C

2012-09-01

Concerns about reproductive health persist among U.S. military members who served in the 1990-1991 Gulf War. This study explores the long-term impact of 1990-1991 Gulf War deployment on the prevalence of birth defects among infants of Gulf War veterans. Health care data from the Department of Defense Birth and Infant Health Registry and demographic and deployment information from the Defense Manpower Data Center were used to identify infants born between 1998 and 2004 to both male and female 1990-1991 Gulf War veterans. Multivariable logistic regression models estimated the adjusted odds of any birth defect and eight specific birth defects among infants of deployers versus non-deployers. In addition, birth defects were evaluated among infants born to 1990-1991 Gulf War veterans with deployment-specific exposures. Among 178,766 infants identified for these analyses, 3.4% were diagnosed with a birth defect in the first year of life. Compared to infants of non-deployers, infants of deployers were not at increased odds of being diagnosed with a birth defect, or any of eight specific birth defects, in the first year of life. A slightly increased prevalence of birth defects was observed among infants born to men who deployed to the 1990-1991 Gulf War for 153 to 200 days compared to those who deployed for 1 to 92 days. No other deployment-specific exposures were associated with birth defects in these infants. The 1990-1991 Gulf War deployers, including those with specific exposures of concern, were not found to be at increased risk for having infants with birth defects 7 to 14 years after deployment. Published 2012 Wiley Periodicals, Inc.

Prenatal nitrate intake from drinking water and selected birth defects in offspring of participants in the national birth defects prevention study.

Science.gov (United States)

Brender, Jean D; Weyer, Peter J; Romitti, Paul A; Mohanty, Binayak P; Shinde, Mayura U; Vuong, Ann M; Sharkey, Joseph R; Dwivedi, Dipankar; Horel, Scott A; Kantamneni, Jiji; Huber, John C; Zheng, Qi; Werler, Martha M; Kelley, Katherine E; Griesenbeck, John S; Zhan, F Benjamin; Langlois, Peter H; Suarez, Lucina; Canfield, Mark A

2013-09-01

Previous studies of prenatal exposure to drinking-water nitrate and birth defects in offspring have not accounted for water consumption patterns or potential interaction with nitrosatable drugs. We examined the relation between prenatal exposure to drinking-water nitrate and selected birth defects, accounting for maternal water consumption patterns and nitrosatable drug exposure. With data from the National Birth Defects Prevention Study, we linked addresses of 3,300 case mothers and 1,121 control mothers from the Iowa and Texas sites to public water supplies and respective nitrate measurements. We assigned nitrate levels for bottled water from collection of representative samples and standard laboratory testing. Daily nitrate consumption was estimated from self-reported water consumption at home and work. With the lowest tertile of nitrate intake around conception as the referent group, mothers of babies with spina bifida were 2.0 times more likely (95% CI: 1.3, 3.2) to ingest ≥ 5 mg nitrate daily from drinking water (vs. nitrate daily (vs. water nitrate intake did not increase associations between prenatal nitrosatable drug use and birth defects. Higher water nitrate intake was associated with several birth defects in offspring, but did not strengthen associations between nitrosatable drugs and birth defects.

Vital Signs: Update on Zika Virus–Associated Birth Defects and Evaluation of All U.S. Infants with Congenital Zika Virus Exposure — U.S. Zika Pregnancy Registry, 2016

Science.gov (United States)

Reynolds, Megan R.; Jones, Abbey M.; Petersen, Emily E.; Lee, Ellen H.; Rice, Marion E.; Bingham, Andrea; Ellington, Sascha R.; Evert, Nicole; Reagan-Steiner, Sarah; Oduyebo, Titilope; Brown, Catherine M.; Martin, Stacey; Ahmad, Nina; Bhatnagar, Julu; Macdonald, Jennifer; Gould, Carolyn; Fine, Anne D.; Polen, Kara D.; Lake-Burger, Heather; Hillard, Christina L.; Hall, Noemi; Yazdy, Mahsa M.; Slaughter, Karnesha; Sommer, Jamie N.; Adamski, Alys; Raycraft, Meghan; Fleck-Derderian, Shannon; Gupta, Jyoti; Newsome, Kimberly; Baez-Santiago, Madelyn; Slavinski, Sally; White, Jennifer L.; Moore, Cynthia A.; Shapiro-Mendoza, Carrie K.; Petersen, Lyle; Boyle, Coleen; Jamieson, Denise J.; Meaney-Delman, Dana; Adair, Jennifer; Ruberto, Irene; Haselow, Dirk T.; Im, Lucille; Jilek, Wendy; Lehmann, Monica S.; Olney, Richard; Porse, Charsey Cole; Ramstrom, Karen C.; Sowunmi, Similoluwa; Marzec, Natalie S.; Davis, Karin; Esponda-Morrison, Brenda; Fraser, M. Zachariah; O'Connor, Colleen Ann; Chung, Wendy; Richardson, Folasuyi; Sexton, Taylor; Stocks, Meredith E.; Woldai, Senait; Bundek, Amanda M.; Zambri, Jennifer; Goldberg, Cynthia; Eisenstein, Leah; Jackson, Jennifer; Kopit, Russell; Logue, Teresa; Mendoza, Raphael; Feldpausch, Amanda; Graham, Teri; Mann, Sylvia; Park, Sarah Y.; Carter, Kris Kelly; Potts, Emily J.; Stevens, Taryn; Simonson, Sean; Tonzel, Julius L.; Davis, Shari; Robinson, Sara; Hyun, Judie K.; Jenkins, Erin M.; Piccardi, Monika; Reid, Lawrence D.; Dunn, Julie E.; Higgins, Cathleen A.; Lin, Angela E.; Munshi, Gerlinde S.; Sandhu, Kayleigh; Scotland, Sarah J.; Soliva, Susan; Copeland, Glenn; Signs, Kimberly A.; Schiffman, Elizabeth; Byers, Paul; Hand, Sheryl; Mulgrew, Christine L.; Hamik, Jeff; Koirala, Samir; Ludwig, Lisa A.; Fredette, Carolyn Rose; Garafalo, Kristin; Worthington, Karen; Ropri, Abubakar; Ade, Julius Nchangtachi; Alaali, Zahra S.; Blog, Debra; Brunt, Scott J.; Bryant, Patrick; Burns, Amy E.; Bush, Steven; Carson, Kyle; Dean, Amy B.; Demarest, Valerie; Dufort, Elizabeth M.; Dupuis II, Alan P.; Sullivan-Frohm, Ann; Furuya, Andrea Marias; Fuschino, Meghan; Glaze, Viola H.; Griffin, Jacquelin; Hidalgo, Christina; Kulas, Karen E.; Lamson, Daryl M.; Lance, Lou Ann; Lee, William T.; Limberger, Ronald; Many, Patricia S.; Marchewka, Mary J.; Naizby, Brenda Elizabeth; Polfleit, MaryJo; Popowich, Michael; Rahman, Tabassum; Rem, Timothy; Robbins, Amy E.; Rowlands, Jemma V.; Seaver, Chantelle; Seward, Kimberley A.; Smith, Lou; Sohi, Inderbir; St. George, Kirsten; Souto, Maria I.; Wester, Rachel Elizabeth; Wong, Susan J.; Zeng, Li; Ackelsberg, Joel; Alex, Byron; Ballen, Vennus; Baumgartner, Jennifer; Bloch, Danielle; Clark, Sandhya; Conners, Erin; Cooper, Hannah; Davidson, Alexander; Dentinger, Catherine; Deocharan, Bisram; DeVito, Andrea; Fu, Jie; Hrusa, Gili; Iqbal, Maryam; Iwamoto, Martha; Jones, Lucretia; Kubinson, Hannah; Lash, Maura; Layton, Marcelle; Lee, Christopher T.; Liu, Dakai; McGibbon, Emily; Moy, Morgan; Ngai, Stephanie; Parton, Hilary B.; Peterson, Eric; Poy, Jose; Rakeman, Jennifer; Stoute, Alaina; Thompson, Corinne; Weiss, Don; Westheimer, Emily; Winters, Ann; Younis, Mohammad; Chan, Ronna L.; Cronquist, Laura Jean; Caton, Lisa; Lind, Leah; Nalluswami, Kumar; Perella, Dana; Brady, Diane S.; Gosciminski, Michael; McAuley, Patricia; Drociuk, Daniel; Leedom, Vinita; Witrick, Brian; Bollock, Jan; Hartel, Marie Bottomley; Lucinski, Loraine Swanson; McDonald, Morgan; Miller, Angela M.; Ponson, Tori Armand; Price, Laura; Nance, Amy E.; Peterson, Dallin; Cook, Sally; Martin, Brennan; Oltean, Hanna; Neary, Jillian; Baker, Melissa A.; Cummons, Kathy; Bryan, Katie; Arnold, Kathryn E.; Arth, Annelise C.; Bollweg, Brigid C.; Cragan, Janet D.; Dawson, April L.; Denison, Amy M.; Dziuban, Eric J.; Estetter, Lindsey; Silva-Flannery, Luciana; Free, Rebecca J.; Galang, Romeo R.; Gary, Joy; Goldsmith, Cynthia S.; Green, Caitlin; Hale, Gillian L.; Hayes, Heather M.; Igbinosa, Irogue; Keating, M. Kelly; Khan, Sumaiya; Kim, Shin Y.; Lampe, Margaret; Lewis, Amanda; Mai, Cara; Martines, Roosecelis Brasil; Miers, Brooke; Moore, Jazmyn; Muehlenbachs, Atis; Nahabedian, John; Panella, Amanda; Parihar, Vaunita; Patel, Mitesh M.; Rabeneck, D. Brett; Rasmussen, Sonja A.; Ritter, Jana M.; Rollin, Dominique C.; Sanders, Jeanine H.; Shieh, Wun-Ju; Simeone, Regina M.; Simon, Elizabeth L.; Sims, John R.; Spivey, Pamela J.; Talley-McRae, Helen; Tshiwala, Alphonse K.; VanMaldeghem, Kelley; Viens, Laura; Wainscott-Sargent, Anne; Williams, Tonya; Zaki, Sherif

2017-01-01

Background In collaboration with state, tribal, local, and territorial health departments, CDC established the U.S. Zika Pregnancy Registry (USZPR) in early 2016 to monitor pregnant women with laboratory evidence of possible recent Zika virus infection and their infants. Methods This report includes an analysis of completed pregnancies (which include live births and pregnancy losses, regardless of gestational age) in the 50 U.S. states and the District of Columbia (DC) with laboratory evidence of possible recent Zika virus infection reported to the USZPR from January 15 to December 27, 2016. Birth defects potentially associated with Zika virus infection during pregnancy include brain abnormalities and/or microcephaly, eye abnormalities, other consequences of central nervous system dysfunction, and neural tube defects and other early brain malformations. Results During the analysis period, 1,297 pregnant women in 44 states were reported to the USZPR. Zika virus–associated birth defects were reported for 51 (5%) of the 972 fetuses/infants from completed pregnancies with laboratory evidence of possible recent Zika virus infection (95% confidence interval [CI] = 4%–7%); the proportion was higher when restricted to pregnancies with laboratory-confirmed Zika virus infection (24/250 completed pregnancies [10%, 95% CI = 7%–14%]). Birth defects were reported in 15% (95% CI = 8%–26%) of fetuses/infants of completed pregnancies with confirmed Zika virus infection in the first trimester. Among 895 liveborn infants from pregnancies with possible recent Zika virus infection, postnatal neuroimaging was reported for 221 (25%), and Zika virus testing of at least one infant specimen was reported for 585 (65%). Conclusions and Implications for Public Health Practice These findings highlight why pregnant women should avoid Zika virus exposure. Because the full clinical spectrum of congenital Zika virus infection is not yet known, all infants born to women with laboratory

Methods for developing useful estimates of the costs associated with birth defects.

Science.gov (United States)

Case, Amy P; Canfield, Mark A

2009-11-01

Cost estimates for birth defects are useful to policy makers in deciding the best use of resources to prevent these conditions. Much of the effort in this area has focused on spina bifida, in part because cost savings can be estimated from folic acid-preventable cases. However, comprehensive cost-of-illness estimates for this condition may be too outdated, too general, or not applicable to individual states' environments. Using the live birth prevalence for spina bifida in Texas, we applied recent spina bifida cost estimates to approximate total lifetime medical and other costs for an average live birth cohort of spina bifida cases in Texas. In addition, we queried various government programs that provide services for persons with spina bifida to provide program-specific annual costs for this condition. Applying a recently published average lifetime medical cost of $635,000 per case of spina bifida to the average annual birth cohort of 120 Texas cases, an estimated $76 million in direct and indirect medical and other costs will be incurred in Texas over the life span of that cohort. Examples of estimated medical costs for one year are $5 million for infants using actual employer-paid insurance claims data and $6 million combined for children in two public sector programs. Stakeholders and state policy makers may look to state birth defects registries for useful cost data. Although comprehensive state-specific figures are not available, applying prevalence data to existing estimates and obtaining actual claims and program expenditures may help close this information gap.

Tritium releases, birth defects and infant deaths

International Nuclear Information System (INIS)

1991-01-01

The AECB has published a report 'Tritium releases from the Pickering Nuclear Generating Station and Birth Defects and Infant Mortality in Nearby Communities 1971-1988' (report number INFO-0401). This presents the results of a detailed analysis of deaths and birth defects occurring in infants born to mothers living in the area (25 Km radius) of the Pickering nuclear power plant, over an 18-year period. The analysis looked at the frequency of these defects and deaths in comparison to the general rate for Ontario, and also in relation to airborne and waterborne releases of tritium from the power plant. The overall conclusion was that the rates of infant death and birth defects were generally not higher in the study population than in all of Ontario. There was no prevalent relationship between these deaths and defects and tritium releases measured either at the power plant or by ground monitoring stations t some distance from the facility

Birth defects risk associated with maternal sport fish consumption: potential effect modification by sex of offspring

International Nuclear Information System (INIS)

Mendola, Pauline; Robinson, L.K.; Buck, G.M.; Druschel, C.M.; Fitzgerald, E.F.; Sever, L.E.; Vena, J.E.

2005-01-01

Contaminated sport fish consumption may result in exposure to various reproductive and developmental toxicants, including pesticides and other suspected endocrine disruptors. We investigated the relation between maternal sport fish meals and risk of major birth defects among infants born to members of the New York State (NYS) Angler Cohort between 1986 and 1991 (n=2237 births). Birth defects (n=125 cases) were ascertained from both newborn medical records and the NYS Congenital Malformations Registry. For sport fish meals eaten during pregnancy, the odds ratio (OR) for all major malformations combined was slightly elevated for ≤1 meal/month (OR=1.26, 95% confidence interval (CI): 0.84, 1.89) and ≥2 meals/month (OR=1.51, CI=0.74, 3.09), with no meals during pregnancy as the reference category. Higher ORs were consistently observed among male offspring compared with females. For ≥2 meals/month, the risk for males was significantly elevated (males: OR=3.01, CI: 1.2, 7.5; females: OR=0.73, CI: 0.2, 2.4). Exposure during pregnancy and effect modification by infants sex could be important considerations for future studies of birth outcomes associated with endocrine disruptors

Microcephaly and Other Birth Defects: Zika

Science.gov (United States)

... Español (Spanish) Recommend on Facebook Tweet Share Compartir Zika and Microcephaly Microcephaly is a birth defect in ... pregnancy or has stopped growing after birth. Congenital Zika Syndrome Congenital Zika syndrome is a unique pattern ...

Birth Defects: Cerebral Palsy

Science.gov (United States)

... Loss > Birth defects & other health conditions > Cerebral palsy Cerebral palsy E-mail to a friend Please fill in ... this page It's been added to your dashboard . Cerebral palsy (also called CP) is a group of conditions ...

Cancer and birth defects surveillance system for communities around the Savannah River Site. Annual progress report

Energy Technology Data Exchange (ETDEWEB)

Dunbar, J.B.

1994-05-01

The US DOE funded this grant to the Medical University of South Carolina for a cancer and birth defects registry for an initial three year period which was completed as of April 29, 1994. While this Technical Progress Report is prepared principally to document the activities of year 03, it also summarizes the accomplishments of the first two years in order to put into perspective the energy and progress of the program over the entire three year funding cycle.

Cancer and birth defects surveillance system for communities around the Savannah River Site. Annual progress report

International Nuclear Information System (INIS)

Dunbar, J.B.

1994-05-01

The US DOE funded this grant to the Medical University of South Carolina for a cancer and birth defects registry for an initial three year period which was completed as of April 29, 1994. While this Technical Progress Report is prepared principally to document the activities of year 03, it also summarizes the accomplishments of the first two years in order to put into perspective the energy and progress of the program over the entire three year funding cycle

Knowledge of birth defects among nursing mothers in a developing ...

African Journals Online (AJOL)

sponsibility is placed on parents in the recognition of these defects. Objectives: The .... be prevented, detected, inherited or treated; and if they knew that folic ... could be used to prevent certain birth defects. ..... birth defects such as smoking.

Analysis of health care status and demands of children of birth defects%出生缺陷患儿保健状况及保健需求分析

Institute of Scientific and Technical Information of China (English)

张颖; 丁辉

2011-01-01

[Objective]To acknowledge the health care status and demands of children born with birth defects.[Methods]Between July 2007 and September 2008, 453 live born cases of birth defects were diagnosed and registered by the Beijing Birth Defects Monitoring network-a hospital based birth defects registry system.Their parents were called to assess their survival status from birth up to the age of 6～8 months.[Results]The proportions of 315 live born infants with birth defects inhabited in Beijing, Expanded Program of Immunization, and physical examination were 94.00％,93.40％ respectively.The proportions of having been to the hospital once at least, not having been to the hospital, not acknowledging the fact of infants' birth defects were 70.70％, 27.10％, and 2.20％ respectively.[Conclusions]The medical services were not enough for the demands of children born with birth defects.To establish registry system of children born with birth defects, to accomplish the net of diagnosis, therapy and transport of children born with birth defect will provide more services to the children born with birth defects.%[目的]了解出生缺陷患儿保健状况及其家长对相关儿童保健的需求.[方法]对2007年7月-2008年9月分娩且家长均居住在北京市海淀区的453例活产出生缺陷患儿,分娩6～8个月时通过电话调查方式询问出生缺陷患儿家长.[结果]315例在北京市生活的儿童接受计划免疫接种率94.00%、体检率93.40%;70.70%"到医院复诊过至少1次",27.10%"未到医院复查",2.20%"家长否认孩子有出生缺陷".[结论]目前的医疗保健机构不能满足出生缺陷患儿医疗保健需求;建立有效的出生缺陷患儿信息登记系统对于患儿信息的长期随访至关重要;完善出生缺陷患儿诊断、治疗、转诊网络,为患儿提供更好的后续服务.

Public health approach to birth defects: the Argentine experience.

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Bidondo, María Paz; Groisman, Boris; Barbero, Pablo; Liascovich, Rosa

2015-04-01

Birth defects are a global problem, but their impact is particularly severe in low and middle income countries, where the conditions for prevention, treatment, and rehabilitation are more critical. The epidemiological transition in the infant mortality causes, and the concern of the community and the mass media about the teratogenic risk of environmental pollutants, has made health authorities aware of the importance of birth defects in Argentina. The objective of this paper is to outline those actions specifically taken in Argentina aimed at the prevention of birth defects at a national level. Firstly, we focus on birth defects in Argentina on a general basis, and then we present different laws and actions taken in terms of surveillance and public health programs, primary, secondary, and tertiary prevention. Finally, we present the Teratology Information Service "Fetal Health Line", and the genetic services organization and health professionals training by the National Center of Medical Genetics and the National Program of Genetics Network. In conclusion, in the country, several programs focus on different approaches to the problem, and the challenge is to coordinate the teamwork between them. Finally, we list tips to address birth defects from the public health perspective.

Association between antibiotic use among pregnant women with urinary tract infections in the first trimester and birth defects, National Birth Defects Prevention Study 1997 to 2011.

Science.gov (United States)

Ailes, Elizabeth C; Gilboa, Suzanne M; Gill, Simerpal K; Broussard, Cheryl S; Crider, Krista S; Berry, Robert J; Carter, Tonia C; Hobbs, Charlotte A; Interrante, Julia D; Reefhuis, Jennita

2016-11-01

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). 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. 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]). 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. © 2016 Wiley Periodicals

Beating Birth Defects (A Cup of Health with CDC)

Centers for Disease Control (CDC) Podcasts

2013-01-17

Each year in the U.S., one in 33 babies is affected by a major birth defect. Women can greatly improve their chances of giving birth to a healthy baby by avoiding some of the risk factors for birth defects before and during pregnancy. In this podcast, Dr. Stuart Shapira discusses ways to improve the chances of giving birth to a healthy baby.  Created: 1/17/2013 by MMWR.   Date Released: 1/17/2013.

FastStats: Birth Defects or Congenital Anomalies

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... this? Submit What's this? Submit Button NCHS Home Birth Defects or Congenital Anomalies Recommend on Facebook Tweet ... 4,825 Infant deaths per 100,000 live births: 121.3 Cause of infant death rank: 1 ...

Birth Defects Data and Statistics

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... Submit" /> Information For… Media Policy Makers Data & Statistics Recommend on Facebook Tweet Share Compartir On This ... and critical. Read below for the latest national statistics on the occurrence of birth defects in the ...

Assisted reproductive technology and major birth defects in Western Australia.

Science.gov (United States)

Hansen, Michele; Kurinczuk, Jennifer J; de Klerk, Nicholas; Burton, Peter; Bower, Carol

2012-10-01

To estimate the prevalence of major birth defects diagnosed by 6 years of age in all births and terminations of pregnancy for fetal anomaly conceived by assisted reproductive technology (when this included intracytoplasmic sperm injection and in vitro fertilization [IVF]) and the remainder of nonassisted reproductive technology-conceived children born in Western Australia from 1994 to 2002. This retrospective cohort study used data linkage between three population-based registers (Reproductive Technology Register, Western Australian Register of Developmental Anomalies, and Midwives' Notification of Birth System) to identify all assisted reproductive technology (n=2,911) and nonassisted reproductive technology (n=210,997) births with and without birth defects diagnosed by age 6 and all terminations of pregnancy for fetal anomaly. A major birth defect was diagnosed in 8.7% of assisted reproductive technology and 5.4% of nonassisted reproductive technology singletons (odds ratio [OR] 1.53, 95% confidence interval [CI] 1.30-1.79), as well as 7.1% of assisted reproductive technology twins and 5.9% of nonassisted reproductive technology twins of unlike sex (OR 1.08, 95% CI 0.77-1.51). The prevalence of birth defects in assisted reproductive technology singletons and twins decreased markedly over the study period. This change was evident across all three clinics contributing data over the whole study and was particularly marked for children conceived as a result of IVF. There has been a decrease in the prevalence of birth defects over time in children born as a result of assisted reproductive technology in Western Australia; however, the prevalence of major birth defects in assisted reproductive technology singletons remains increased compared with nonassisted reproductive technology singletons. II.

Risk factors and birth prevalence of birth defects and inborn errors of ...

African Journals Online (AJOL)

Children with any birth defect or metabolic errors of metabolism at birth or in the neonatology section were our sample for study. Control group was randomly selected from the cases with normal live births. Blood tests were performed for children suspected to suffer from genetic blood disorders. The principal BD as per the ...

Insights from Parents about Caring for a Child with Birth Defects

Directory of Open Access Journals (Sweden)

Amanda Mateus

2013-08-01

Full Text Available Birth defects affect 1 in 33 babies. Having a child with a birth defect impacts the whole family. Parents of children who have birth defects face unique challenges and desire to make life better for their kids. They also want to help to prevent birth defects in the future. Some of the challenges parents face involve communication with healthcare professionals, quality of life issues, creating awareness and advocating for research and funding, finding resources and support, and helping teens transition to appropriate, specialized adult care. This paper addresses these issues and their sub-issues, provides examples, and makes suggestions for improvement and research.

Insights from Parents about Caring for a Child with Birth Defects

Science.gov (United States)

Lemacks, Jodi; Fowles, Kristin; Mateus, Amanda; Thomas, Kayte

2013-01-01

Birth defects affect 1 in 33 babies. Having a child with a birth defect impacts the whole family. Parents of children who have birth defects face unique challenges and desire to make life better for their kids. They also want to help to prevent birth defects in the future. Some of the challenges parents face involve communication with healthcare professionals, quality of life issues, creating awareness and advocating for research and funding, finding resources and support, and helping teens transition to appropriate, specialized adult care. This paper addresses these issues and their sub-issues, provides examples, and makes suggestions for improvement and research. PMID:23965922

Maternal and perinatal aspects of birth defects: a case-control study

Directory of Open Access Journals (Sweden)

Geiza Cesar Nhoncanse

2014-03-01

Full Text Available Objective: To assess the prevalence of congenital defects and to investigate their maternal and perinatal associated aspects by reviewing Birth Certificates. Methods: Among all born alive infants from January 2003 to December 2007 in Maternidade da Santa Casa de Misericórdia of São Carlos, Southeast Brazil (12,199 infants, cases were identified as the newborns whose Birth Certificates registered any congenital defect. The same sex neonate born immediately after the case was chosen as a control. In total, 13 variables were analyzed: six were maternal related, three represented labor and delivery conditions and four were linked to fetal status. The chi-square and Fisher's exact tests were used to compare the variables, being significant p<0.05. Results: The prevalence of congenital defects was 0.38% and the association of two or more defects represented 32% of all cases. The number of mothers whose education level was equal or less than eight years was significantly higher among the group with birth defects (p=0.047. A higher frequency of prematurity (p<0.001 and cesarean delivery (p=0.004 was observed among children with birth defects. This group also showed lower birth weight and Apgar scores in the 1st and the 5th minute (p<0.001. Conclusions: The prevalence of congenital defect of 0.38% is possibly due to underreporting. The defects notified in the Birth Certificates were only the most visible ones, regardless of their severity. There is a need of adequate epidemiological monitoring of birth defects in order to create and expand prevention and treatment programs.

Birth Defects in the Newborn Population: Race and Ethnicity

Directory of Open Access Journals (Sweden)

Alexander C. Egbe

2015-06-01

Conclusion: This is a comprehensive description of racial differences in the risk of birth defects in the United States. Observed racial differences in the risk of birth defects may be related to genetic susceptibilities, to cultural or social differences that could modify exposures, or to the many potential combinations between susceptibilities and exposures.

Links between environmental geochemistry and rate of birth defects: Shanxi Province, China

Energy Technology Data Exchange (ETDEWEB)

Yu Haiying [State Key Laboratory of Earth Surface Processes and Resource Ecology, School of Geography, Beijing Normal University, Beijing 100875 (China); College of Resources and Environmental Sciences, Sichuan Agricultural University, Ya' an, Sichuan 625014 (China); Zhang Keli, E-mail: keli@bnu.edu.cn [State Key Laboratory of Earth Surface Processes and Resource Ecology, School of Geography, Beijing Normal University, Beijing 100875 (China)

2011-01-01

The rate of birth defects in Shanxi Province is among the highest worldwide. In order to identify the impacts of geochemical and environmental factors on birth defect risk, samples of soil, water and food were collected from an area with an unusually high rate of birth defects (study area) and an area with a low rate of birth defects (control area) in Shanxi Province, China. Element contents were determined by ICP-OES, and the results were analyzed using a non-parametric test and stepwise regression. Differences in the level and distribution of 14 geochemical elements, namely arsenic (As), selenium (Se), molybdenum (Mo), zinc (Zn), strontium (Sr), iron (Fe), tin (Sn), magnesium (Mg), vanadium (V), calcium (Ca), copper (Cu), aluminum (Al), potassium (K) and sulfur (S) were thus compared between the study and control areas. The results reveal that the geochemical element contents in soil, water and food show a significant difference between the study area and control area, and suggest that the study area was characterized by higher S and lower Sr and Al contents. These findings, based on statistical analysis, may be useful in directing further epidemiological investigations identifying the leading causes of birth defects. - Research Highlights: {yields} Environmental geochemistry has an significant impact on birth defects in the regions with an unusually high rate of birth defects. {yields} An excess of S and deficiency of Sr and Al are the distinctive environmental features associated with the high rate of birth defects in the Shanxi Province of China. {yields} Geochemical anomalies is a non-medical basis for effective prevention and cure of birth defects.

Links between environmental geochemistry and rate of birth defects: Shanxi Province, China

International Nuclear Information System (INIS)

Yu Haiying; Zhang Keli

2011-01-01

The rate of birth defects in Shanxi Province is among the highest worldwide. In order to identify the impacts of geochemical and environmental factors on birth defect risk, samples of soil, water and food were collected from an area with an unusually high rate of birth defects (study area) and an area with a low rate of birth defects (control area) in Shanxi Province, China. Element contents were determined by ICP-OES, and the results were analyzed using a non-parametric test and stepwise regression. Differences in the level and distribution of 14 geochemical elements, namely arsenic (As), selenium (Se), molybdenum (Mo), zinc (Zn), strontium (Sr), iron (Fe), tin (Sn), magnesium (Mg), vanadium (V), calcium (Ca), copper (Cu), aluminum (Al), potassium (K) and sulfur (S) were thus compared between the study and control areas. The results reveal that the geochemical element contents in soil, water and food show a significant difference between the study area and control area, and suggest that the study area was characterized by higher S and lower Sr and Al contents. These findings, based on statistical analysis, may be useful in directing further epidemiological investigations identifying the leading causes of birth defects. - Research Highlights: → Environmental geochemistry has an significant impact on birth defects in the regions with an unusually high rate of birth defects. → An excess of S and deficiency of Sr and Al are the distinctive environmental features associated with the high rate of birth defects in the Shanxi Province of China. → Geochemical anomalies is a non-medical basis for effective prevention and cure of birth defects.

Maternal residential exposure to agricultural pesticides and birth defects in a 2003 to 2005 North Carolina birth cohort.

Science.gov (United States)

Rappazzo, Kristen M; Warren, Joshua L; Meyer, Robert E; Herring, Amy H; Sanders, Alison P; Brownstein, Naomi C; Luben, Thomas J

2016-04-01

Birth defects are responsible for a large proportion of disability and infant mortality. Exposure to a variety of pesticides have been linked to increased risk of birth defects. We conducted a case-control study to estimate the associations between a residence-based metric of agricultural pesticide exposure and birth defects. We linked singleton live birth records for 2003 to 2005 from the North Carolina (NC) State Center for Health Statistics to data from the NC Birth Defects Monitoring Program. Included women had residence at delivery inside NC and infants with gestational ages from 20 to 44 weeks (n = 304,906). Pesticide exposure was assigned using a previously constructed metric, estimating total chemical exposure (pounds of active ingredient) based on crops within 500 meters of maternal residence, specific dates of pregnancy, and chemical application dates based on the planting/harvesting dates of each crop. Logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals for four categories of exposure (90(th) percentiles) compared with unexposed. Models were adjusted for maternal race, age at delivery, education, marital status, and smoking status. We observed elevated ORs for congenital heart defects and certain structural defects affecting the gastrointestinal, genitourinary and musculoskeletal systems (e.g., OR [95% confidence interval] [highest exposure vs. unexposed] for tracheal esophageal fistula/esophageal atresia = 1.98 [0.69, 5.66], and OR for atrial septal defects: 1.70 [1.34, 2.14]). Our results provide some evidence of associations between residential exposure to agricultural pesticides and several birth defects phenotypes. Birth Defects Research (Part A) 106:240-249, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.

Science.gov (United States)

Orioli, Iêda M; Amar, Emmanuelle; Arteaga-Vazquez, Jazmin; Bakker, Marian K; Bianca, Sebastiano; Botto, Lorenzo D; Clementi, Maurizio; Correa, Adolfo; Csaky-Szunyogh, Melinda; Leoncini, Emanuele; Li, Zhu; López-Camelo, Jorge S; Lowry, R Brian; Marengo, Lisa; Martínez-Frías, María-Luisa; Mastroiacovo, Pierpaolo; Morgan, Margery; Pierini, Anna; Ritvanen, Annukka; Scarano, Gioacchino; Szabova, Elena; Castilla, Eduardo E

2011-11-15

Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system members of the International Clearinghouse for Birth Defects Surveillance and Research, and were reported according to a single pre-established protocol. Cases were clinically evaluated locally and reviewed centrally. A total of 249 cases with sirenomelia were identified among 25,290,172 births, for a prevalence of 0.98 per 100,000, with higher prevalence in the Mexican registry. An increase of sirenomelia prevalence with maternal age less than 20 years was statistically significant. The proportion of twinning was 9%, higher than the 1% expected. Sex was ambiguous in 47% of cases, and no different from expectation in the rest. The proportion of cases born alive, premature, and weighting less than 2,500 g were 47%, 71.2%, and 88.2%, respectively. Half of the cases with sirenomelia also presented with genital, large bowel, and urinary defects. About 10-15% of the cases had lower spinal column defects, single or anomalous umbilical artery, upper limb, cardiac, and central nervous system defects. There was a greater than expected association of sirenomelia with other very rare defects such as bladder exstrophy, cyclopia/holoprosencephaly, and acardia-acephalus. The application of the new biological network analysis approach, including molecular results, to these associated very rare diseases is suggested for future studies. Copyright © 2011 Wiley Periodicals, Inc.

Associations between maternal periconceptional exposure to secondhand tobacco smoke and major birth defects.

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Hoyt, Adrienne T; Canfield, Mark A; Romitti, Paul A; Botto, Lorenzo D; Anderka, Marlene T; Krikov, Sergey V; Tarpey, Morgan K; Feldkamp, Marcia L

2016-11-01

While associations between secondhand smoke and a few birth defects (namely, oral clefts and neural tube defects) have been noted in the scientific literature, to our knowledge, there is no single or comprehensive source of population-based information on its associations with a range of birth defects among nonsmoking mothers. We utilized data from the National Birth Defects Prevention Study, a large population-based multisite case-control study, to examine associations between maternal reports of periconceptional exposure to secondhand smoke in the household or workplace/school and major birth defects. The multisite National Birth Defects Prevention Study is the largest case-control study of birth defects to date in the United States. We selected cases from birth defect groups having >100 total cases, as well as all nonmalformed controls (10,200), from delivery years 1997 through 2009; 44 birth defects were examined. After excluding cases and controls from multiple births and whose mothers reported active smoking or pregestational diabetes, we analyzed data on periconceptional secondhand smoke exposure-encompassing the period 1 month prior to conception through the first trimester. For the birth defect craniosynostosis, we additionally examined the effect of exposure in the second and third trimesters as well due to the potential sensitivity to teratogens for this defect throughout pregnancy. Covariates included in all final models of birth defects with ≥5 exposed mothers were study site, previous live births, time between estimated date of delivery and interview date, maternal age at estimated date of delivery, race/ethnicity, education, body mass index, nativity, household income divided by number of people supported by this income, periconceptional alcohol consumption, and folic acid supplementation. For each birth defect examined, we used logistic regression analyses to estimate both crude and adjusted odds ratios and 95% confidence intervals for both

Maternal Residential Exposure to Agricultural Pesticides and Birth Defects in a 2003 to 2005 North Carolina Birth Cohort

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Birth defects are responsible for a large proportion of disability and infant mortality. Exposure to a variety of pesticides have been linked to increased risk of birth defects. We conducted a case-control study to estimate the associations between a residence-based metric of agr...

Using bayesian models to assess the effects of under-reporting of cannabis use on the association with birth defects, national birth defects prevention study, 1997-2005.

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van Gelder, Marleen M H J; Donders, A Rogier T; Devine, Owen; Roeleveld, Nel; Reefhuis, Jennita

2014-09-01

Studies on associations between periconceptional cannabis exposure and birth defects have mainly relied on self-reported exposure. Therefore, the results may be biased due to under-reporting of the exposure. The aim of this study was to quantify the potential effects of this form of exposure misclassification. Using multivariable logistic regression, we re-analysed associations between periconceptional cannabis use and 20 specific birth defects using data from the National Birth Defects Prevention Study from 1997-2005 for 13 859 case infants and 6556 control infants. For seven birth defects, we implemented four Bayesian models based on various assumptions concerning the sensitivity of self-reported cannabis use to estimate odds ratios (ORs), adjusted for confounding and under-reporting of the exposure. We used information on sensitivity of self-reported cannabis use from the literature for prior assumptions. The results unadjusted for under-reporting of the exposure showed an association between cannabis use and anencephaly (posterior OR 1.9 [95% credible interval (CRI) 1.1, 3.2]) which persisted after adjustment for potential exposure misclassification. Initially, no statistically significant associations were observed between cannabis use and the other birth defect categories studied. Although adjustment for under-reporting did not notably change these effect estimates, cannabis use was associated with esophageal atresia (posterior OR 1.7 [95% CRI 1.0, 2.9]), diaphragmatic hernia (posterior OR 1.8 [95% CRI 1.1, 3.0]), and gastroschisis (posterior OR 1.7 [95% CRI 1.2, 2.3]) after correction for exposure misclassification. Under-reporting of the exposure may have obscured some cannabis-birth defect associations in previous studies. However, the resulting bias is likely to be limited. © 2014 John Wiley & Sons Ltd.

Using Bayesian Models to Assess the Effects of Under-reporting of Cannabis Use on the Association with Birth Defects, National Birth Defects Prevention Study, 1997–2005

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van Gelder, Marleen M. H. J.; Rogier, A.; Donders, T.; Devine, Owen; Roeleveld, Nel; Reefhuis, Jennita

2015-01-01

Background Studies on associations between periconceptional cannabis exposure and birth defects have mainly relied on self-reported exposure. Therefore, the results may be biased due to underreporting of the exposure. The aim of this study was to quantify the potential effects of this form of exposure misclassification. Methods Using multivariable logistic regression, we re-analyzed associations between periconceptional cannabis use and 20 specific birth defects using data from the National Birth Defects Prevention Study from 1997–2005 for 13 859 case infants and 6556 control infants. For seven birth defects, we implemented four Bayesian models based on various assumptions concerning the sensitivity of self-reported cannabis use to estimate odds ratios (ORs), adjusted for confounding and underreporting of the exposure. We used information on sensitivity of self-reported cannabis use from the literature for prior assumptions. Results The results unadjusted for underreporting of the exposure showed an association between cannabis use and anencephaly (posterior OR 1.9 [95% credible interval (CRI) 1.1, 3.2]) which persisted after adjustment for potential exposure misclassification. Initially, no statistically significant associations were observed between cannabis use and the other birth defect categories studied. Although adjustment for underreporting did not notably change these effect estimates, cannabis use was associated with esophageal atresia (posterior OR 1.7 [95% CRI 1.0, 2.9]), diaphragmatic hernia (posterior OR 1.8 [95% CRI 1.1, 3.0]) and gastroschisis (posterior OR 1.7 [95% CRI 1.2, 2.3]) after correction for exposure misclassification. Conclusions Underreporting of the exposure may have obscured some cannabis-birth defect associations in previous studies. However, the resulting bias is likely to be limited. PMID:25155701

Feasibility of identifying families for genetic studies of birth defects using the National Health Interview Survey

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Nolan Vikki G

2004-05-01

Full Text Available Abstract Background The purpose of this study was to determine whether the National Health Interview Survey is a useful source to identify informative families for genetic studies of birth defects. Methods The 1994/1995 National Health Interview Survey (NHIS was used to identify households where individuals with two or more birth defects reside. Four groups of households were identified: 1 single non-familial (one individual with one birth defect; 2 single familial (more than one individual with one birth defect; 3 multiple non-familial (one individual with more than one birth defect, and 4 multiple familial (more than one individual with more than one birth defect. The March 2000 U.S. Census on households was used to estimate the total number of households in which there are individuals with birth defects. Results Of a total of 28,094 households and surveyed about birth defects and impairments, 1,083 single non-familial, 55 multiple non-familial, 54 single familial, and 8 multiple familial households were identified. Based on the 2000 U.S. census, it is estimated that there are 4,472,385 households where at least one person has one birth defect in the United States and in 234,846 of them there are at least two affected individuals. Western states had the highest prevalence rates. Conclusions Population-based methods, such as the NHIS, are modestly useful to identify the number and the regions where candidate families for genetic studies of birth defects reside. Clinic based studies and birth defects surveillance systems that collect family history offer better probability of ascertainment.

Heterogeneous rates for birth defects in Latin America: hints on causality.

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Lopez-Camelo, J S; Orioli, I M

1996-01-01

The aim of this work was to disclose risk factors associated with birth defects which were heterogeneously distributed in the different geographic regions sampled by the Latin American Collaborative Study of Congenital Malformations (ECLAMC). The material included 2,159,065 hospital births, delivered in the 1967-1989 period in 24 geographic regions of Latin America. Birth defect types with 50 case-control pairs or more were analyzed. A risk factor was defined as that available variable with differential geographic rates, correlated with those of a given birth defect type. Identified factors were tested by case-control multivariate logistic regression to confirm their role in the occurrence of the defect. Altitude and maternal acute illness during first trimester of pregnancy, named influenza, were risk factors for microtia. Prenatal drug exposure, mainly sex hormones, were connected with the occurrence of hypospadias in low frequency areas, while Native ancestry was a "protective" factor in the same regions. Acute (influenza), and chronic (epilepsy and syphilis) maternal illness during first trimester of pregnancy and gravidity higher than four were risk factors for cleft lip. The independence of these variables from maternal age suggested that low maternal socioeconomic level could explain the high birth defect order and, perhaps, syphilis in mothers. Postaxial polydactyly was associated with parental consanguinity, as well as Afro-American ancestry, suggesting genetic heterogeneity.

First Trimester Influenza Vaccination and Risks for Major Structural Birth Defects in Offspring.

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Kharbanda, Elyse Olshen; Vazquez-Benitez, Gabriela; Romitti, Paul A; Naleway, Allison L; Cheetham, T Craig; Lipkind, Heather S; Klein, Nicola P; Lee, Grace; Jackson, Michael L; Hambidge, Simon J; McCarthy, Natalie; DeStefano, Frank; Nordin, James D

2017-08-01

To examine risks for major structural birth defects in infants after first trimester inactivated influenza vaccine (IIV) exposures. In this observational study, we used electronic health data from 7 Vaccine Safety Datalink sites to examine risks for selected major structural defects in infants after maternal IIV exposure. Vaccine exposures for women with continuous insurance enrollment through pregnancy who delivered singleton live births between 2004 and 2013 were identified from standardized files. Infants with continuous insurance enrollment were followed to 1 year of age. We excluded mother-infant pairs with other exposures that potentially increased their background risk for birth defects. Selected cardiac, orofacial or respiratory, neurologic, ophthalmologic or otologic, gastrointestinal, genitourinary and muscular or limb defects were identified from diagnostic codes in infant medical records using validated algorithms. Propensity score adjusted generalized estimating equations were used to estimate prevalence ratios (PRs). We identified 52 856 infants with maternal first trimester IIV exposure and 373 088 infants whose mothers were unexposed to IIV during first trimester. Prevalence (per 100 live births) for selected major structural birth defects was 1.6 among first trimester IIV exposed versus 1.5 among unexposed mothers. The adjusted PR was 1.02 (95% CI 0.94-1.10). Organ system-specific PRs were similar to the overall PR. First trimester maternal IIV exposure was not associated with an increased risk for selected major structural birth defects in this large cohort of singleton live births. Copyright © 2017 Elsevier Inc. All rights reserved.

Prevalence of birth defects and risk-factor analysis from a population-based survey in Inner Mongolia, China

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Zhang Xingguang

2012-08-01

Full Text Available Abstract Background Birth Defects are a series of diseases that seriously affect children's health. Birth defects are generally caused by several interrelated factors. The aims of the article is to estimate the prevalence rate and types of birth defects in Inner Mongolia, China, to compare socio-demographic characteristics among the children with birth defects and to analyze the association between risk factors and birth defects. Methods Data used in this study were obtained through baseline survey of Inner Mongolia Birth Defects Program, a population-based survey conducted from 2005 to 2008. The survey used cluster sampling method in all 12 administrative districts of Inner Mongolia. Sampling size is calculated according to local population size at a certain percentage. All live births, stillbirths and abortions born from October 2005 to September 2008, whose families lived in Inner Mongolia at least one year, were included. The cases of birth defects were diagnosed by the clinical doctors according to their experiences with further laboratory tests if needed. The inclusion criteria of the cases that had already dead were decided according to death records available at local cites. We calculated prevalence rate and 95% confidence intervals of different groups. Outcome variable was the occurrence of birth defects and associations between risk factors and birth defects were analyzed by using Poisson regression analysis. Results 976 children with birth defects were diagnosed. The prevalence rate of birth defects was 156.1 per 10000 births (95%CI: 146.3-165.8. The prevalence rate of neural tube defect (20.1 per 10000 births including anencephaly(6.9 per 10000, spina bifida (10.6 per 10000, and encephalocele (2.7 per 10000 was the highest, followed by congenital heart disease (17.1 per 10000. The relative risk (RR for maternal age less than 25 was 2.22 (95%CI: 2.05, 2.41. The RR of the ethnic Mongols was lower than Han Chinese (RR: 0.84; 95%CI: 0

Parental mental illness and fatal birth defects in a national birth cohort

DEFF Research Database (Denmark)

Webb, Roger; Pickles, A.R.; King-Hele, Sarah

2007-01-01

BACKGROUND: Few large studies describe links between maternal mental illness and risk of major birth defect in offspring. Evidence is sparser still for how effects vary between maternal diagnoses and no previous study has assessed risk with paternal illnesses.MethodA population-based birth cohort...... genetic effects directly linked with maternal illness, lifestyle factors (diet, smoking, alcohol and drugs), poor antenatal care, psychotropic medication toxicity, and gene-environment interactions. Further research is needed to elucidate the causal mechanisms...

Lack of periconceptional vitamins or supplements that contain folic acid and diabetes mellitus-associated birth defects.

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Correa, Adolfo; Gilboa, Suzanne M; Botto, Lorenzo D; Moore, Cynthia A; Hobbs, Charlotte A; Cleves, Mario A; Riehle-Colarusso, Tiffany J; Waller, D Kim; Reece, E Albert

2012-03-01

The purpose of this study was to examine the risk of birth defects in relation to diabetes mellitus and the lack of use of periconceptional vitamins or supplements that contain folic acid. The National Birth Defects Prevention Study (1997-2004) is a multicenter, population-based case-control study of birth defects (14,721 cases and 5437 control infants). Cases were categorized into 18 types of heart defects and 26 noncardiac birth defects. We estimated odds ratios for independent and joint effects of preexisting diabetes mellitus and a lack of periconceptional use of vitamins or supplements that contain folic acid. The pattern of odds ratios suggested an increased risk of defects that are associated with diabetes mellitus in the absence vs the presence of the periconceptional use of vitamins or supplements that contain folic acid. The lack of periconceptional use of vitamins or supplements that contain folic acid may be associated with an excess risk for birth defects due to diabetes mellitus. Published by Mosby, Inc.

Birth defects in perinatal infants in areas contiguous to Hongyanhe Nuclear Power Plant before its normal operation

International Nuclear Information System (INIS)

Zhou Ling; Yin Zhihua; Han Zhonghui

2011-01-01

Objective: To understand the status of birth defects among the perinatal infants in the areas contiguous to Hongyanhe nuclear power plant before its normal operation, so as to provide background information for the evaluation of the impact of nuclear power plant on birth defects. Methods: From 1 October 1995 to 30 September 2009 the midwifery units at second class and above of Wafangdian City were asked to be in charge of recording the birth defects among the perinatal infants born during this period within the range of 50 km around the Hongyanhe nuclear power plant. Results: The total number of birth defects was 697, and the maternal number Was 83779. The average defect rate Was 83.20/10 4 . There were significant differences in the birth defect rate among different years (χ 2 =39.54, P<0.05), however, without linear trend therein,and among the survey areas (χ 2 =15.36, P<0.05) as well. The top five birth defects were congenital heart disease (148 cases), cleft lip with cleft palate (67 cases), congenital hydrocephalus (63 cases), and spina bifida (37 cases) and cleft lip (36 cases). Conclusions: The birth defect rate within the range of 50 km around the Hongyanhe nuclear power plant is lower than that of the region of Liaoning Province and the national rate of birth defects. (authors)

The Co-Occurrence of Autism and Birth Defects: Prevalence and Risk in a Population-Based Cohort

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Schendel, Diana E.; Autry, Andrew; Wines, Roberta; Moore, Cynthia

2009-01-01

Aim: To estimate the prevalence of major birth defects among children with autism, the prevalence of autism in children with birth defects, and the risk for autism associated with having birth defects. Method: Retrospective cohort including all children born in Atlanta, GA, USA, 1986 to 1993, who survived to age 3 years and were identified through…

Increasing trends in childlessness in recent birth cohorts - a registry-based study of the total Danish male population born from 1945 to 1980

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Priskorn, L; Holmboe, Sarah; Jacobsen, R

2012-01-01

The fertility rate has recently declined in many parts of the World, including Europe. To a large extent, this change can be explained by the socio-economic development. However, increasing fertility problems and widespread occurrence of poor semen quality could in part explain the few births....... The objective of this registry based study was to investigate birth cohort related trends in fertility and childlessness among Danish men. The study population comprised all 1 616 677 men in Denmark born from 1945 to 1980 of whom 1 359 975 (84.1%) were native Danes. Data were obtained from Statistics Denmark...... and contained information from The National Danish Birth Registry and The Danish In Vitro Fertilization (IVF) Registry. For consecutive birth cohorts of native Danish men cumulative fertility rates at age 45 declined from 1.91 children per man in the 1945 birth cohort to 1.71 for men born in 1960...

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

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Mai, Cara T; Law, David J; Mason, Craig A; McDowell, Bradley D; Meyer, Robert E; Musa, Debra

2007-12-01

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. (c) 2007 Wiley-Liss, Inc.

Association between risk of birth defects occurring level and arsenic concentrations in soils of Lvliang, Shanxi province of China

International Nuclear Information System (INIS)

Wu, Jilei; Zhang, Chaosheng; Pei, Lijun; Chen, Gong; Zheng, Xiaoying

2014-01-01

The risk of birth defects is generally accredited with genetic factors, environmental causes, but the contribution of environmental factors to birth defects is still inconclusive. With the hypothesis of associations of geochemical features distribution and birth defects risk, we collected birth records and measured the chemical components in soil samples from a high prevalence area of birth defects in Shanxi province, China. The relative risk levels among villages were estimated with conditional spatial autoregressive model and the relationships between the risk levels of the villages and the 15 types of chemical elements concentration in the cropland and woodland soils were explored. The results revealed that the arsenic levels in cropland soil showed a significant association with birth defects occurring risk in this area, which is consistent with existing evidences of arsenic as a teratogen and warrants further investigation on arsenic exposure routine to birth defect occurring risk. - Highlights: • Association between soil geochemical components and birth defects risk was proposed. • The relative risk difference among villages were estimated with CAR model. • Arsenic levels in cropland showed a significant association to birth defect risk. • The finding warrants further investigation on arsenic as a teratogen. - The difference of risk levels estimate by spatial statistics to birth defect significantly associated with arsenic levels in cropland soils warrants further investigation

[Monitoring of pregnancies exposed to drugs in France: the experience of the registries of congenital malformations].

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Doray, Bérénice

2014-01-01

Registries of congenital malformations were implemented in many industrialized countries following the drama of thalidomide. In 2013, four French registries of congenital malformations in France provide the systematic epidemiological surveillance of birth defects. All are part of international networks of registries, especially European surveillance of congenital anomalies (EUROCAT). If the development of prevention actions including prenatal diagnosis has gradually led the registries to play a key role of assessment on the impact of public health policies, one of the major roles of registries of congenital malformations remains early detection of clusters of malformations secondary to teratogenic effects. © 2014 Société Française de Pharmacologie et de Thérapeutique.

Maternal Risk Factors for Preterm Birth in Murmansk County, Russia: A Registry-Based Study.

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Usynina, Anna A; Postoev, Vitaly A; Grjibovski, Andrej M; Krettek, Alexandra; Nieboer, Evert; Odland, Jon Øyvind; Anda, Erik Eik

2016-09-01

Globally, about 11% of all liveborn infants are preterm. To date, data on prevalence and risk factors of preterm birth (PTB) in Russia are limited. The aims of this study were to estimate the prevalence of PTB in Murmansk County, Northwestern Russia and to investigate associations between PTB and selected maternal factors using the Murmansk County Birth Registry. We conducted a registry-based study of 52 806 births (2006-2011). In total, 51 156 births were included in the prevalence analysis, of which 3546 were PTBs. Odds ratios with 95% confidence intervals of moderate-to-late PTB, very PTB and extremely PTB for a range of maternal characteristics were estimated using multinomial logistic regression, adjusting for potential confounders. The overall prevalence of PTB in Murmansk County was 6.9%. Unmarried status, prior PTBs, spontaneous and induced abortions were strongly associated with PTB at any gestational age. Maternal low educational level increased the risk of extremely and moderate-to-late PTB. Young (<18 years) or older (≥35 years) mothers, graduates of vocational schools, underweight, overweight/obese mothers, and smokers were at higher risk of moderate-to-late PTB. Secondary education, alcohol abuse, diabetes mellitus, or gestational diabetes were strongly associated with moderate-to-late and very PTB. The observed prevalence of PTB (6.9%) in Murmansk County, Russia was comparable with data on live PTB from European countries. Adverse prior pregnancy outcomes, maternal low educational level, unmarried status, alcohol abuse, and diabetes mellitus or gestational diabetes were the most common risk factors for PTB. © 2016 John Wiley & Sons Ltd.

Epidemiology of neural tube defects in Saudi Arabia.

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AlShail, Essam; De Vol, Edward; Yassen, Ahsan; Elgamal, Essam A

2014-12-01

To evaluate the distribution and pattern of neural tube defects in Saudi Arabia by creating a hospital based registry. All cases registered in the King Faisal Specialist Hospital and Research Center (KFSH&RC) neural tube defect (NTD) registry since it was established in October 2000 until December 2012 were studied through active surveillance comprising a registrar who collects NTD information by reviewing the patient's medical records, and interviewing patient's families. The total number of patients registered from October 2000 to December 2012 was 718 patients. There were more females (417, 58%) than males (301, 42%). Of 620 mothers who underwent antenatal ultrasonography; 392 (63%) were diagnosed at birth, and 204 (33%) were diagnosed with antenatal hydrocephalus. In our registry sample, most mothers (95%) did not take folic acid 3 months prior to pregnancy, and 76% did not take folic acid during the 3 months after conception with the affected child. Only 5% received folic acid prior to conception. The KFSH&RC-NTD registry has met its objectives as a source of data that may significantly contribute to the prevention of NTDs, and improving quality of care for NTD patients through active publication of registry findings and management approaches.

BIRTH DEFECTS IN FOUR U.S. WHEAT-PRODUCING STATES

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Birth Defects in Four U.S. Wheat - Producing StatesDina M. Schreinemachers, National Health and Environmental Effects Research Laboratory, Office of Research and Development, U.S. Environmental Protection Agency, Research Triangle Park, NC 27711Wheat agriculture in Mi...

[Prevalence of birth defects according to the level of care in two hospitals, Cali, Colombia, 2012-2013].

Science.gov (United States)

Pachajoa, Harry; Villota, Vania A; Cruz, Luz Marina; Ariza, Yoseth

2015-01-01

Birth defects are morphologic alterations diagnosed prenatal or postnatally. Surveillance systems have been used to estimate the prevalence in high complexity care centers; however, the variation of the prevalence among different complexity care centers remains unknown. To compare the prevalence of birth defects among two different complexity care centers in Cali, Colombia. A descriptive hospital-based study following the methodology of the Latin American Collaborative Study of Congenital Malformations was conducted during 20 months in a medium complexity hospital and a high complexity hospital. During the study period, 7,140 births were attended of which 225 had at least one birth defect. The prevalence of these was of 1.7% (IC95% 1.3-2.0) and 7.4% (IC95% 6.2-8.7) for the medium complexity hospital and the high complexity hospital, respectively. The highest frequencies for the high complexity care center were: ventricular septal defect, 10%; congenital hydronephrosis, 7%; abdominal wall defects, 6%, and hydrocephalus, 5%, while for the medium complexity were: polydactyly, 15%; preauricular skin tags, 8%; congenital talipes equino varus, 7%, and hemangioma, 6%. The prevalence of birth defects among different complexity care centers varies in quantity, type and severity of the anomaly diagnosed. The surveillance of birth defects is a useful tool for any level of care. It allows estimating more accurately the prevalence of the city, as well being a base for the planning and targeting of resources according to the prevalence of different congenital defects.

Congenital anomalies of the kidney and the urinary tract: A murmansk county birth registry study.

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Postoev, Vitaly A; Grjibovski, Andrej M; Kovalenko, Anton A; Anda, Erik Eik; Nieboer, Evert; Odland, Jon Øyvind

2016-03-01

Congenital anomalies of the kidney and the urinary tract (CAKUTs) are relatively common birth defects. The combined prevalence in Europe was 3.3 per 1000 in 2012. The risk factors for these anomalies are not clearly identified. The aims of our study were to calculate the birth prevalences of urinary malformations in Murmansk County during 2006 to 2011 and to investigate related prenatal risk factors. The Murmansk County Birth Registry was the primary source of information and our study included 50,936 singletons in the examination of structure, prevalence and proportional distribution of CAKUTs. The multivariate analyses of risk factors involved 39,322 newborns. The prevalence of CAKUTs was 4.0 per 1000 newborns (95% confidence interval [CI], 3.4-4.5) and did not change during the study period. The most prevalent malformation was congenital hydronephrosis (14.2% of all cases). Diabetes mellitus or gestational diabetes (odds ratio [OR] = 4.77; 95% CI, 1.16-19.65), acute infections while pregnant (OR = 1.83; 95% CI, 1.14-2.94), the use of medication during pregnancy (OR = 2.03; 95% CI, 1.44-2.82), and conception during the summer (OR = 1.75; 95% CI 1.15-2.66) were significantly associated with higher risk of CAKUTs. The overall fourfold enhancement of the occurrence of urinary malformations in Murmansk County for the 2006 to 2011 period showed little annual dependence. During pregnancy, use of medications, infections, pre-existing diabetes mellitus, or gestational diabetes were associated with increased risk of these anomalies, as was conception during summer. Our findings have direct applications in improving prenatal care in Murmansk County and establishing targets for prenatal screening and women's consultations. © 2016 Wiley Periodicals, Inc.

Birth prevalence of neural tube defects and orofacial clefts in India: a systematic review and meta-analysis.

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Komal Preet Allagh

Full Text Available In the last two decades, India has witnessed a substantial decrease in infant mortality attributed to infectious disease and malnutrition. However, the mortality attributed to birth defects remains constant. Studies on the prevalence of birth defects such as neural tube defects and orofacial clefts in India have reported inconsistent results. Therefore, we conducted a systematic review of observational studies to document the birth prevalence of neural tube defects and orofacial clefts.A comprehensive literature search for observational studies was conducted in MEDLINE and EMBASE databases using key MeSH terms (neural tube defects OR cleft lip OR cleft palate AND Prevalence AND India. Two reviewers independently reviewed the retrieved studies, and studies satisfying the eligibility were included. The quality of included studies was assessed using selected criteria from STROBE statement.The overall pooled birth prevalence (random effect of neural tube defects in India is 4.5 per 1000 total births (95% CI 4.2 to 4.9. The overall pooled birth prevalence (random effect of orofacial clefts is 1.3 per 1000 total births (95% CI 1.1 to 1.5. Subgroup analyses were performed by region, time period, consanguinity, and gender of newborn.The overall prevalence of neural tube defects from India is high compared to other regions of the world, while that of orofacial clefts is similar to other countries. The majority of studies included in the review were hospital based. The quality of these studies ranged from low to moderate. Further well-designed, high quality community-based observational studies are needed to accurately estimate the burden of neural tube defects and orofacial clefts in India.

Population-Based Surveillance of Birth Defects Potentially Related to Zika Virus Infection - 15 States and U.S. Territories, 2016.

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Delaney, Augustina; Mai, Cara; Smoots, Ashley; Cragan, Janet; Ellington, Sascha; Langlois, Peter; Breidenbach, Rebecca; Fornoff, Jane; Dunn, Julie; Yazdy, Mahsa; Scotto-Rosato, Nancy; Sweatlock, Joseph; Fox, Deborah; Palacios, Jessica; Forestieri, Nina; Leedom, Vinita; Smiley, Mary; Nance, Amy; Lake-Burger, Heather; Romitti, Paul; Fall, Carrie; Prado, Miguel Valencia; Barton, Jerusha; Bryan, J Michael; Arias, William; Brown, Samara Viner; Kimura, Jonathan; Mann, Sylvia; Martin, Brennan; Orantes, Lucia; Taylor, Amber; Nahabedian, John; Akosa, Amanda; Song, Ziwei; Martin, Stacey; Ramlal, Roshan; Shapiro-Mendoza, Carrie; Isenburg, Jennifer; Moore, Cynthia A; Gilboa, Suzanne; Honein, Margaret A

2018-01-26

Zika virus infection during pregnancy can cause serious birth defects, including microcephaly and brain abnormalities (1). Population-based birth defects surveillance systems are critical to monitor all infants and fetuses with birth defects potentially related to Zika virus infection, regardless of known exposure or laboratory evidence of Zika virus infection during pregnancy. CDC analyzed data from 15 U.S. jurisdictions conducting population-based surveillance for birth defects potentially related to Zika virus infection.* Jurisdictions were stratified into the following three groups: those with 1) documented local transmission of Zika virus during 2016; 2) one or more cases of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents; and 3) less than one case of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents. A total of 2,962 infants and fetuses (3.0 per 1,000 live births; 95% confidence interval [CI] = 2.9-3.2) (2) met the case definition. † In areas with local transmission there was a non-statistically significant increase in total birth defects potentially related to Zika virus infection from 2.8 cases per 1,000 live births in the first half of 2016 to 3.0 cases in the second half (p = 0.10). However, when neural tube defects and other early brain malformations (NTDs) § were excluded, the prevalence of birth defects strongly linked to congenital Zika virus infection increased significantly, from 2.0 cases per 1,000 live births in the first half of 2016 to 2.4 cases in the second half, an increase of 29 more cases than expected (p = 0.009). These findings underscore the importance of surveillance for birth defects potentially related to Zika virus infection and the need for continued monitoring in areas at risk for Zika.

Effect of consanguinity on birth defects in Saudi women; results from a nested case-control study

DEFF Research Database (Denmark)

Majeed-Saidan, Muhammad Ali; Ammari, Amer N; AlHashem, Amal M

2015-01-01

BACKGROUND: The role of consanguinity in the etiology of structural birth defects outside of chromosomal and inherited disorders has always been debated. We studied the independent role of consanguinity on birth defects in Saudi women with a high prevalence of consanguineous marriages. METHODS: T...

What Every Chemist Should Know About Teratogens--Chemicals that Cause Birth Defects.

Science.gov (United States)

Beyler, Roger E.; Meyers, Vera Kolb

1982-01-01

Teratogens are agents which act during pregnancy producing physical/functional defects in the embryo, fetus, or offspring. Discusses teratogenic hazards in the workplace and academic environment, classes of teratogenic compounds, precautions for interpreting Teratogen List from Registry of Toxic Effects of Chemical Substances (RTECS), and how…

HETEROGENEITY OF NEURAL-TUBE DEFECTS IN EUROPE - THE SIGNIFICANCE OF SITE OF DEFECT AND PRESENCE OF OTHER MAJOR ANOMALIES IN RELATION TO GEOGRAPHIC DIFFERENCES IN PREVALENCE

NARCIS (Netherlands)

DOLK, H; DEWALS, P; GILLEROT, Y; LECHAT, MF; AYME, S; CORNEL, M; CUSCHIERI, A; GARNE, E; GOUJARD, J; LAURENCE, KM; LILLIS, D; LYS, F; NEVIN, N; OWENS, J; RADIC, A; STOLL, C; STONE, D; TENKATE, L

1991-01-01

In the period 1980-1987, neural tube defects were two to three times more prevalent in populations covered by EUROCAT registries in the United Kingdom and Ireland (UKI) than in Continental Europe and Malta (CEM). 1864 NTD cases in a total population of 580,000 births in UKI and 455 cases in a

Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study.

Science.gov (United States)

Vasluian, Ecaterina; van der Sluis, Corry K; van Essen, Anthonie J; Bergman, Jorieke E H; Dijkstra, Pieter U; Reinders-Messelink, Heleen A; de Walle, Hermien E K

2013-11-16

Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964-1977 to 30.4/10,000 births in Scotland from 1964-1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other birth defects. The aim of this study is to describe the birth prevalence of CLD in the northern Netherlands. In a population-based, epidemiological study we investigated the birth prevalences of CLD for 1981-2010. Data were collected by the European Surveillance of Congenital Anomalies in the northern Netherlands (EUROCAT-NNL). We excluded malpositions, club foot, and dislocation/dysplasia of hips or knees. Trends were analysed for the 19-year period 1992-2010 using χ² tests, as well as CLD association with anomalies affecting other organs. The birth prevalence of CLD was 21.1/10,000 births for 1981-2010. There was an overall decrease in non-syndromic limb defects (P = 0.023) caused by a decrease in the prevalence of non-syndromic syndactyly (P CLD, 55% were males, 57% had isolated defects, 13% had multiple congenital anomalies (MCA), and 30% had a recognised syndrome. The upper:lower limb ratio was 2:1, and the left:right side ratio was 1.2:1. Cardiovascular and urinary tract anomalies were common in combination with CLD (37% and 25% of cases with MCA). Digestive-tract anomalies were significantly associated with CLD (P = 0.016). The birth prevalence of CLD in the northern Netherlands was 21.1/10,000 births. The birth prevalence of non-syndromic syndactyly dropped from 5.2/10,000 to 1.1/10,000 in 1992-2010.

Neural tube defects in Malaysia: data from the Malaysian National Neonatal Registry.

Science.gov (United States)

Boo, Nem-Yun; Cheah, Irene G S; Thong, Meow-Keong

2013-10-01

This study aimed to determine the prevalence and early outcome of neural tube defects (NTDs) in Malaysia. This prospective study included all neonates with NTDs (spina bifida, anencephaly, encephalocoele) born in 2009 in 32 Malaysian hospitals in the Malaysian National Neonatal Network. The prevalence of NTDs was 0.42 per 1000 live births, being highest among the indigenous people of Sarawak (1.09 per 1000 live births) and lowest among Malaysians of Chinese descent (0.09 per 1000 live births). The most common type of NTDs was anencephaly (0.19 per 1000 live births), followed by spina bifida (0.11 per 1000 live births) and encephalocoele (0.07 per 1000 live births). Majority of the infants with anencephaly (94.5%, n = 51), 45.8% (n = 11) with encephalocoele and 9.5% (n = 4) with spina bifida died. The median duration of hospital stay was 4 (range: 0-161) days. NTDs were common in Malaysia. Mortality was high. Long-term monitoring of NTD prevalence following folic fortification of food is recommended.

Birth outcomes among military personnel after exposure to documented open-air burn pits before and during pregnancy.

Science.gov (United States)

Conlin, Ava Marie S; DeScisciolo, Connie; Sevick, Carter J; Bukowinski, Anna T; Phillips, Christopher J; Smith, Tyler C

2012-06-01

To examine birth outcomes in military women and men with potential exposure to documented open-air burn pits before and during pregnancy. Electronic data from the Department of Defense Birth and Infant Health Registry and the Defense Manpower Data Center were used to examine the prevalence of birth defects and preterm birth among infants of active-duty women and men who were deployed within a 3-mile radius of a documented open-air burn pit before or during pregnancy. In general, burn pit exposure at various times in relation to pregnancy and for differing durations was not consistently associated with an increase in birth defects or preterm birth in infants of active-duty military personnel. These analyses offer reassurance to service members that burn pit exposure is not consistently associated with these select adverse infant health outcomes.

Disinfection By-Product Exposures and the Risk of Specific Cardiac Birth Defects

Science.gov (United States)

Wright, J. Michael; Evans, Amanda; Kaufman, John A.; Rivera-Núñez, Zorimar; Narotsky, Michael G.

2016-01-01

Background: Epidemiological studies suggest that women exposed to disinfection by-products (DBPs) have an increased risk of delivering babies with cardiovascular defects (CVDs). Objective: We examined nine CVDs in relation to categorical DBP exposures including bromoform, chloroform, dibromochloromethane (DBCM), bromodichloromethane (BDCM), monobromoacetic acid (MBAA), dichloroacetic acid (DCAA), trichloroacetic acid (TCAA), and summary DBP measures (HAA5, THMBr, THM4, and DBP9). Methods: We calculated adjusted odds ratios (aORs) in a case–control study of birth defects in Massachusetts with complete quarterly 1999–2004 trihalomethane (THM) and haloacetic acid (HAA) data. We randomly matched 10 controls each to 904 CVD cases based on week of conception. Weight-averaged aggregate first-trimester DBP exposures were assigned to individuals based on residence at birth. Results: We detected associations for tetralogy of Fallot and the upper exposure categories for TCAA, DCAA, and HAA5 (aOR range, 3.34–6.51) including positive exposure–response relationships for DCAA and HAA5. aORs consistent in magnitude were detected between atrial septal defects and bromoform (aOR = 1.56; 95% CI: 1.01, 2.43), as well as DBCM, chloroform, and THM4 (aOR range, 1.26–1.67). Ventricular septal defects (VSDs) were associated with the highest bromoform (aOR = 1.85; 95% CI: 1.20, 2.83), MBAA (aOR = 1.81; 95% CI: 0.85, 3.84), and DBCM (aOR = 1.54; 95% CI: 1.00, 2.37) exposure categories. Conclusions: To our knowledge, this is the first birth defect study to develop multi-DBP adjusted regression models as well as the first CVD study to evaluate HAA exposures and the second to evaluate bromoform exposures. Our findings, therefore, inform exposure specificity for the consistent associations previously reported between THM4 and CVDs including VSDs. Citation: Wright JM, Evans A, Kaufman JA, Rivera-Núñez Z, Narotsky MG. 2017. Disinfection by-product exposures and the risk of specific

Epidemiology of birth defects, perinatal mortality and thyroid cancer before and after the Chernobyl catastrophe

International Nuclear Information System (INIS)

Frentzel-Beyme, R.; Scherb, H.

2007-01-01

Spatial and temporal trends of birth defects and perinatal mortality in Germany and Europe as well as in least and most contaminated regions have been compared and investigated by trends. In numerous data sets, especially from northern and eastern Europe, positive and significant trend variations with upward 'disturbances' in temporal relation associated with the Chernobyl accident 1986 have been identified and spatial associations with regional fallout have been found. A surprisingly consistent picture evolves of significantly raised stillbirth rates after Chernobyl of ca. 5 % in Poland, ca. 10 % in parts of Germany and Sweden, ca. 20 % in Denmark and Finland, and up to ca. 30% in Iceland and Hungary. Low as compared to higher contaminated regions show weaker or stronger effects, respectively. The additional relative risks for birth defects are in the same order of magnitude as the additional relative risks for stillbirth, namely 0,5%-20 %/kBq·m 2 . Using well-known conversion coefficients, the excess relative risk of 1 %/kBq·m 2 translates theoretically to a preliminary relative risk of 1,6/mSv/a. The incidence of thyroid carcinoma among children affected by Chernobyl fallout has increased dramatically in certain parts of Europe. Less evidence exists for a similar effect among adolescents and adults. The cancer registry of the Czech Republic provides an opportunity to study various determinants of the occurrence of thyroid cancer. After the Chernobyl accident, the thyroid cancer incidence of the Czech Republic reveals an additional annual increase of up to 5% depending on age and gender. The additional increases of thyroid cancer in the whole population of the Czech Republic are consistent with reports from other countries. To investigate trends in the sex distribution of newborns before and after the Chernobyl accident, gender-specific annual birth statistics were obtained from the Czech Republic, Denmark, Finland, Germany, Hungary, Norway, Poland, and Sweden

Mouse Models for Investigating the Developmental Bases of Human Birth Defects

OpenAIRE

MOON, ANNE M.

2006-01-01

Clinicians and basic scientists share an interest in discovering how genetic or environmental factors interact to perturb normal development and cause birth defects and human disease. Given the complexity of such interactions, it is not surprising that 4% of human infants are born with a congenital malformation, and cardiovascular defects occur in nearly 1%. Our research is based on the fundamental hypothesis that an understanding of normal and abnormal development will permit us to generate ...

Associations Between Disinfection By-Product Exposures and Craniofacial Birth Defects.

Science.gov (United States)

Kaufman, John A; Wright, J Michael; Evans, Amanda; Rivera-Núñez, Zorimar; Meyer, Amy; Narotsky, Michael G

2018-02-01

The aim of this study was to examine associations between craniofacial birth defects (CFDs) and disinfection by-product (DBP) exposures, including the sum of four trihalomethanes (THM4) and five haloacetic acids (HAA5) (ie, DBP9). We calculated first trimester adjusted odds ratios (aORs) for different DBPs in a matched case-control study of 366 CFD cases in Massachusetts towns with complete 1999 to 2004 THM and HAA data. We detected elevated aORs for cleft palate with DBP9 (highest quintile aOR = 3.52; 95% CI: 1.07, 11.60), HAA5, trichloroacetic acid (TCAA), and dichloroacetic acid. We detected elevated aORs for eye defects with TCAA and chloroform. This is the first epidemiological study of DBPs to examine eye and ear defects, as well as HAAs and CFDs. The associations for cleft palate and eye defects highlight the importance of examining specific defects and DBPs beyond THM4.

Are residents of mountain-top mining counties more likely to have infants with birth defects? The West Virginia experience.

Science.gov (United States)

Lamm, Steven H; Li, Ji; Robbins, Shayhan A; Dissen, Elisabeth; Chen, Rusan; Feinleib, Manning

2015-02-01

Pooled 1996 to 2003 birth certificate data for four central states in Appalachia indicated higher rates of infants with birth defects born to residents of counties with mountain-top mining (MTM) than born to residents of non-mining-counties (Ahern 2011). However, those analyses did not consider sources of uncertainty such as unbalanced distributions or quality of data. Quality issues have been a continuing problem with birth certificate analyses. We used 1990 to 2009 live birth certificate data for West Virginia to reassess this hypothesis. Forty-four hospitals contributed 98% of the MTM-county births and 95% of the non-mining-county births, of which six had more than 1000 births from both MTM and nonmining counties. Adjusted and stratified prevalence rate ratios (PRRs) were computed both by using Poisson regression and Mantel-Haenszel analysis. Unbalanced distribution of hospital births was observed by mining groups. The prevalence rate of infants with reported birth defects, higher in MTM-counties (0.021) than in non-mining-counties (0.015), yielded a significant crude PRR (cPRR = 1.43; 95% confidence interval [CI] = 1.36-1.52) but a nonsignificant hospital-adjusted PRR (adjPRR = 1.08; 95% CI = 0.97-1.20; p = 0.16) for the 44 hospitals. So did the six hospital data analysis ([cPRR = 2.39; 95% CI = 2.15-2.65] and [adjPRR = 1.01; 95% CI, 0.89-1.14; p = 0.87]). No increased risk of birth defects was observed for births from MTM-counties after adjustment for, or stratification by, hospital of birth. These results have consistently demonstrated that the reported association between birth defect rates and MTM coal mining was a consequence of data heterogeneity. The data do not demonstrate evidence of a "Mountain-top Mining" effect on the prevalence of infants with reported birth defects in WV. © 2014 Wiley Periodicals, Inc.

Assessing bottled water nitrate concentrations to evaluate total drinking water nitrate exposure and risk of birth defects.

Science.gov (United States)

Weyer, Peter J; Brender, Jean D; Romitti, Paul A; Kantamneni, Jiji R; Crawford, David; Sharkey, Joseph R; Shinde, Mayura; Horel, Scott A; Vuong, Ann M; Langlois, Peter H

2014-12-01

Previous epidemiologic studies of maternal exposure to drinking water nitrate did not account for bottled water consumption. The objective of this National Birth Defects Prevention Study (NBDPS) (USA) analysis was to assess the impact of bottled water use on the relation between maternal exposure to drinking water nitrate and selected birth defects in infants born during 1997-2005. Prenatal residences of 1,410 mothers reporting exclusive bottled water use were geocoded and mapped; 326 bottled water samples were collected and analyzed using Environmental Protection Agency Method 300.0. Median bottled water nitrate concentrations were assigned by community; mothers' overall intake of nitrate in mg/day from drinking water was calculated. Odds ratios for neural tube defects, limb deficiencies, oral cleft defects, and heart defects were estimated using mixed-effects models for logistic regression. Odds ratios (95% CIs) for the highest exposure group in offspring of mothers reporting exclusive use of bottled water were: neural tube defects [1.42 (0.51, 3.99)], limb deficiencies [1.86 (0.51, 6.80)], oral clefts [1.43 (0.61, 3.31)], and heart defects [2.13, (0.87, 5.17)]. Bottled water nitrate had no appreciable impact on risk for birth defects in the NBDPS.

[Spatial distribution of birth defects among children aged 0 to 5 years and its relationship with soil chemical elements in Chongqing].

Science.gov (United States)

Dong, Yan; Zhong, Zhao-hui; Li, Hong; Li, Jie; Wang, Ying-xiong; Peng, Bin; Zhang, Mao-zhong; Huang, Qiao; Yan, Ju; Xu, Fei-long

2013-10-01

To explore the correlation between the incidence of birth defects and the contents of soil elements so as to provide a scientific basis for screening the related pathogenic factors that inducing birth defects for the development of related preventive and control strategies. MapInfo 7.0 software was used to draw the maps on spatial distribution regarding the incidence rates of birth defects and the contents of 11 chemical elements in soil in the 33 studied areas. Variables on the two maps were superposed for analyzing the spatial correlation. SAS 8.0 software was used to analyze single factor, multi-factors and principal components as well as to comprehensively evaluate the degrees of relevance. Different incidence rates of birth defects showed in the maps of spatial distribution presented certain degrees of negative correlation with anomalies of soil chemical elements, including copper, chrome, iodine, selenium, zinc while positively correlated with the levels of lead. Results from the principal component regression equation indicating that the contents of copper(0.002), arsenic(-0.07), cadmium(0.05), chrome (-0.001), zinc (0.001), iodine(-0.03), lead (0.08), fluorine(-0.002)might serve as important factors that related to the prevalence of birth defects. Through the study on spatial distribution, we noticed that the incidence rates of birth defects were related to the contents of copper, chrome, iodine, selenium, zinc, lead in soil while the contents of chrome, iodine and lead might lead to the occurrence of birth defects.

Using bayesian models to assess the effects of under-reporting of cannabis use on the association with birth defects, national birth defects prevention study, 1997-2005

NARCIS (Netherlands)

Gelder, M.M.H.J. van; Donders, A.R.T.; Devine, O.; Roeleveld, N.; Reefhuis, J.; Prevention, S. National Birth

2014-01-01

BACKGROUND: Studies on associations between periconceptional cannabis exposure and birth defects have mainly relied on self-reported exposure. Therefore, the results may be biased due to under-reporting of the exposure. The aim of this study was to quantify the potential effects of this form of

Changing trend in congenital abdominal wall defects in Eastern region of Ireland.

LENUS (Irish Health Repository)

McDonnell, R

2002-09-01

In the past six years, there have been reports from abroad of an unexplained rise in the birth prevalence rate of the congenital abdominal wall defect gastroschisis, while rates for the macroscopically similar anomaly omphalocoele have remained stable. The Dublin EUROCAT Registry of congenital anomalies monitors trends in the birth prevalence of birth defects in the eastern region of Ireland. We analysed births of children with omphalocoele and gastroschisis born in the period 1981-2000, with comparisons of a number of demographic and obstetric variables. During the 20 year period the birth prevalence rate for omphalocoele remained stable at 2.5\\/10,000 births, whereas the rate for gastroschisis increased significantly during the 1990s from 1.0\\/10,000 in 1991 to 4.9\\/10,000 in 2000. Most of the increase occurred among mothers under 25 years of age. Omphalocoele was associated with a relatively high proportion of other major congenital anomalies. This study showed that there has been an unexpected rise in the birth prevalence of gastroschisis in the region, similar to that experienced in other countries in the same time period and likely to have common aetiological features.

Birth outcomes of cases with isolated atrial septal defect type II--a population-based case-control study.

Science.gov (United States)

Vereczkey, Attila; Kósa, Zsolt; Csáky-Szunyogh, Melinda; Urbán, Róbert; Czeizel, Andrew E

2013-07-01

In general, epidemiological studies have evaluated cases with congenital cardiovascular abnormalities together. The aim of this study is to describe the birth outcomes of cases with isolated/single atrial septal defect type II (ASD-II, i.e. only a fossa ovalis defect) after surgical correction or lethal outcome in the light of maternal sociodemographic data. Comparison of birth outcomes and maternal characteristics of cases with ASD-II and controls without defect. The population-based Hungarian Case-Control Surveillance of Congenital Abnormalities. Hungarian newborn infants with or without ASD-II. Medically recorded birth outcomes, maternal age and birth order were evaluated. Marital and employment status was based on maternal information. The lifestyle factors were analyzed in a subsample of mothers visited at home based on a personal interview with mothers and their close relatives, and the family consensus was accepted. Mean gestational age at delivery and birthweight, rate of preterm birth and low birthweight, maternal age, birth order, marital and employment status. The evaluation of 471 cases with ASD-II and 38,151 controls without any defects showed a female excess in cases with ASD-II, having shorter gestational age and lower mean birthweight, and thus a higher rate of preterm births and low birthweight. Intrauterine growth restriction and shorter gestational age were found in cases with ASD-II, particularly in female children. These factors may have a general developmental process in which there was not closure of the foramen ovale, thus echocardiographic screening of these babies might be of value. © 2012 The Authors Acta Obstetricia et Gynecologica Scandinavica © 2012 Nordic Federation of Societies of Obstetrics and Gynecology.

Traffic-Related Air Pollution and Selected Birth Defects in the San Joaquin Valley of California

Science.gov (United States)

Padula, Amy M.; Tager, Ira B.; Carmichael, Suzan L.; Hammond, S. Katharine; Yang, Wei; Lurmann, Frederick W.; Shaw, Gary M.

2014-01-01

BACKGROUND Birth defects are a leading cause of infant morbidity and mortality. Studies suggest associations between environmental contaminants and some structural anomalies, although evidence is limited and several anomalies have not been investigated previously. METHODS We used data from the California Center of the National Birth Defects Prevention Study and the Children's Health and Air Pollution Study to estimate the odds of 26 congenital birth defect phenotypes with respect to quartiles of seven ambient air pollutant and traffic exposures in California during the first 2 months of pregnancy, 1997 to 2006 (874 cases and 849 controls). We calculated odds ratios (adjusted for maternal race/ethnicity, education, and vitamin use; aOR) for 11 phenotypes that had at least 40 cases. RESULTS Few odds ratios had confidence intervals that did not include 1.0. Odds of esophageal atresia were increased for the highest versus lowest of traffic density (aOR = 2.8, 95% confidence interval [CI], 1.1–7.4) and PM10 exposure (aOR 4.9; 95% CI, 1.4–17.2). PM10 was associated with a decreased risk of hydrocephaly (aOR= 0.3; 95% CI, 0.1–0.9) and CO with decreased risk of anotia/microtia (aOR = 0.4; 95% CI, 0.2–0.8) and transverse limb deficiency (aOR = 0.4; 95% CI, 0.2–0.9), again reflecting highest versus lowest quartile comparisons. CONCLUSION Most analyses showed no substantive association between air pollution and the selected birth defects with few exceptions of mixed results. PMID:24108522

A Study of Handling Cytotoxic Drugs and Risk of Birth Defects in Offspring of Female Veterinarians

Directory of Open Access Journals (Sweden)

Adeleh Shirangi

2014-06-01

Full Text Available We examined the association of occupational exposure to handling cytotoxic drugs at work with risk of birth defects among a cohort of female veterinarians. This study is a follow up survey of 321 female participants (633 pregnancies who participated in the Health Risks of Australian Veterinarian project. Data on pregnancies and exposure during each pregnancy was obtained by self-administered mailed questionnaire. Female veterinarians handling cytotoxic drugs during their pregnancy had a two-fold increased risk of birth defects in their offspring (RR = 2.08, 95% CI (1.05–4.15. Results were consistent in subgroup analysis of those who graduated during the period of 1961 to 1980 (RR = 5.04, 95% CI (1.81, 14.03 and in those working specifically in small and large animal practice. There was no increased risk in the subgroup that graduated after 1980. Women with unplanned pregnancies were more likely to handle cytotoxic drugs on a daily basis (RR = 1.86, 95% CI, 1.00–3.48 and had a higher increased risk of birth defects than those who planned their pregnancies in recent graduates and in those who worked specifically in small animal practice (RR = 2.53, 95% CI, 1.18–5.42. This study suggests that the adverse effects of handling cytotoxic drugs in pregnant women may include an increased risk of birth defects. Pregnancy intention status is an important health behavior and should be considered in prenatal programs.

Agricultural chemical exposures and birth defects in the Eastern Cape Province, South Africa A case – control study

Directory of Open Access Journals (Sweden)

Tyler Joanne

2003-10-01

Full Text Available Abstract Background South Africa is one of the major users of pesticides on the African continent. The Eastern Cape is the second largest province in South Africa. There has been growing concern about the occurrence of certain birth defects which seemed to have increased in the past few years. In this paper we investigate associations between exposure to agricultural chemicals and certain birth defects. Few such studies have been undertaken in the developing world previously. Methods Between September 2000 and March 2001 a case – control study was conducted among rural women in the area of the Eastern cape to investigate the association between women's exposure to pesticides and the occurrence of birth defects. Information on birth defects was obtained from the register of the Paediatrics Department at the Cecilia Makiwane Hospital in Mdantsane, one of the largest referral hospitals in the province. The cases were children who were diagnosed with selected birth defects. The controls were children born in the same areas as the cases. Exposure information on the mothers was obtained by interview concerning from their activities in gardens and fields. Data were analysed using conditional logistic regression. Results A total of 89 case mothers and 178 control mothers was interviewed. Babies with birth defects were seven times more likely to be born to women exposed to chemicals used in gardens and fields compared to no reported exposure (Odds Ratio 7.18, 95% CI 3.99, 13.25; and were almost twice as likely to be born to women who were involved in dipping livestock used to prevent ticks (OR 1.92, 95% CI 1.15, 3.14. They were also 6.5 times more likely to be born to women who were using plastic containers for fetching water (OR 6.5, 95% CI 2.2, 27.9. Some of these containers had previously contained pesticides (OR 1.87, 95% CI 1.06, 3.31. Conclusions These findings suggest a link between exposure to pesticides and certain birth defects among the

Describing the Prevalence of Neural Tube Defects Worldwide: A Systematic Literature Review.

Science.gov (United States)

Zaganjor, Ibrahim; Sekkarie, Ahlia; Tsang, Becky L; Williams, Jennifer; Razzaghi, Hilda; Mulinare, Joseph; Sniezek, Joseph E; Cannon, Michael J; Rosenthal, Jorge

2016-01-01

Folate-sensitive neural tube defects (NTDs) are an important, preventable cause of morbidity and mortality worldwide. There is a need to describe the current global burden of NTDs and identify gaps in available NTD data. We conducted a systematic review and searched multiple databases for NTD prevalence estimates and abstracted data from peer-reviewed literature, birth defects surveillance registries, and reports published between January 1990 and July 2014 that had greater than 5,000 births and were not solely based on mortality data. We classified countries according to World Health Organization (WHO) regions and World Bank income classifications. The initial search yielded 11,614 results; after systematic review we identified 160 full text manuscripts and reports that met the inclusion criteria. Data came from 75 countries. Coverage by WHO region varied in completeness (i.e., % of countries reporting) as follows: African (17%), Eastern Mediterranean (57%), European (49%), Americas (43%), South-East Asian (36%), and Western Pacific (33%). The reported NTD prevalence ranges and medians for each region were: African (5.2-75.4; 11.7 per 10,000 births), Eastern Mediterranean (2.1-124.1; 21.9 per 10,000 births), European (1.3-35.9; 9.0 per 10,000 births), Americas (3.3-27.9; 11.5 per 10,000 births), South-East Asian (1.9-66.2; 15.8 per 10,000 births), and Western Pacific (0.3-199.4; 6.9 per 10,000 births). The presence of a registry or surveillance system for NTDs increased with country income level: low income (0%), lower-middle income (25%), upper-middle income (70%), and high income (91%). Many WHO member states (120/194) did not have any data on NTD prevalence. Where data are collected, prevalence estimates vary widely. These findings highlight the need for greater NTD surveillance efforts, especially in lower-income countries. NTDs are an important public health problem that can be prevented with folic acid supplementation and fortification of staple foods.

Describing the Prevalence of Neural Tube Defects Worldwide: A Systematic Literature Review.

Directory of Open Access Journals (Sweden)

Ibrahim Zaganjor

Full Text Available Folate-sensitive neural tube defects (NTDs are an important, preventable cause of morbidity and mortality worldwide. There is a need to describe the current global burden of NTDs and identify gaps in available NTD data.We conducted a systematic review and searched multiple databases for NTD prevalence estimates and abstracted data from peer-reviewed literature, birth defects surveillance registries, and reports published between January 1990 and July 2014 that had greater than 5,000 births and were not solely based on mortality data. We classified countries according to World Health Organization (WHO regions and World Bank income classifications. The initial search yielded 11,614 results; after systematic review we identified 160 full text manuscripts and reports that met the inclusion criteria. Data came from 75 countries. Coverage by WHO region varied in completeness (i.e., % of countries reporting as follows: African (17%, Eastern Mediterranean (57%, European (49%, Americas (43%, South-East Asian (36%, and Western Pacific (33%. The reported NTD prevalence ranges and medians for each region were: African (5.2-75.4; 11.7 per 10,000 births, Eastern Mediterranean (2.1-124.1; 21.9 per 10,000 births, European (1.3-35.9; 9.0 per 10,000 births, Americas (3.3-27.9; 11.5 per 10,000 births, South-East Asian (1.9-66.2; 15.8 per 10,000 births, and Western Pacific (0.3-199.4; 6.9 per 10,000 births. The presence of a registry or surveillance system for NTDs increased with country income level: low income (0%, lower-middle income (25%, upper-middle income (70%, and high income (91%.Many WHO member states (120/194 did not have any data on NTD prevalence. Where data are collected, prevalence estimates vary widely. These findings highlight the need for greater NTD surveillance efforts, especially in lower-income countries. NTDs are an important public health problem that can be prevented with folic acid supplementation and fortification of staple foods.

Birth prevalence for congenital limb defects in the northern Netherlands : A 30-year population-based study

NARCIS (Netherlands)

Golea-Vasluian, Ecaterina; van der Sluis, Corry K; van Essen, Anthonie J; Bergman, Jorieke E H; Dijkstra, Pieter U; Reinders-Messelink, Heleen A; de Walle, Hermien E K

2013-01-01

Background: Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964-1977 to 30.4/10,000 births in Scotland from 1964-1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other

Validation of birth outcomes from the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS): population-based analysis from the Massachusetts Outcome Study of Assisted Reproductive Technology (MOSART).

Science.gov (United States)

Stern, Judy E; Gopal, Daksha; Liberman, Rebecca F; Anderka, Marlene; Kotelchuck, Milton; Luke, Barbara

2016-09-01

To assess the validity of outcome data reported to the Society for Assisted Reproductive Technology Clinic Outcome Reporting System (SART CORS) compared with data from vital records and the birth defects registry in Massachusetts. Longitudinal cohort. Not applicable. A total of 342,035 live births and fetal deaths from Massachusetts mothers giving birth in the state from July 1, 2004, to December 31, 2008; 9,092 births and fetal deaths were from mothers who had conceived with the use of assisted reproductive technology (ART) and whose cycle data had been reported to the SART CORS. Not applicable. Percentage agreement between maternal race and ethnicity, delivery outcome (live birth or fetal death), plurality (singleton, twin, or triplet+), delivery date, and singleton birth weight reported in the SART CORS versus vital records; sensitivity and specificity for birth defects among singletons as reported in the SART CORS versus the Massachusetts Birth Defects Monitoring Program (BDMP). There was >95% agreement between the SART CORS and vital records for fields of maternal race/ethnicity, live birth/fetal death, and plurality; birth outcome date was within 1 day with 94.9% agreement and birth weight was within 100 g with 89.6% agreement. In contrast, sensitivity for report of any birth defect was 38.6%, with a range of 18.4%-50.0%, for specific birth defect categories. Although most SART CORS outcome fields are accurately reported, birth defect variables showed poor sensitivity compared with the gold standard data from the BDMP. We suggest that reporting of birth defects be discontinued. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Folic acid supplementation influences the distribution of neural tube defect subtypes : A registry-based study

NARCIS (Netherlands)

Bergman, J. E. H.; Otten, E.; Verheij, J. B. G. M.; de Walle, H. E. K.

Periconceptional folic acid (FA) reduces neural tube defect (NTD) risk, but seems to have a varying effect per NTD subtype. We aimed to study the effect of FA supplementation on NTD subtype distribution using data from EUROCAT Northern Netherlands. We included all birth types with non-syndromal NTDs

Folic Acid and Birth Defects: A Case Study (Iran

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Mohammad Bager Hosseini

2011-01-01

Full Text Available The aim of this study was to evaluate the impact of folic acid use in pregnancy for the reduction of neural tube defects (NTDs in the northwest region of Iran. We studied 243 women with pregnancies complicated by some forms of birth defect(s. These patients were identified by medical diagnostic tests as having a fetus with some types of congenital anomalies. The prevalence of NTDs among pregnant women who were referred for therapeutic termination of pregnancy was 24.7 percent. Consumption of folic acid prevented NTDs by 79 percent (Odds Ratio = 0.21, CI 95%: 0.12–0.40 and 94 percent (Odds Ratio = 0.06, CI 95%: 0.03–0.15 compared to pregnancies complicated by other anomalies and normal pregnancies, respectively. Hydrops fetalis, hydrocephaly, Down syndrome, and limb anomalies did not have any significant association with the folic acid use. Along with the advice for the consumption of folic acid for pregnant women, they should be offered prenatal screening or diagnostic tests to identify fetal abnormalities for possible termination of pregnancy.

Trends in cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects, metropolitan Atlanta, 1968-2005.

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Jackson, Jodi M; Crider, Krista S; Rasmussen, Sonja A; Cragan, Janet D; Olney, Richard S

2012-01-01

The purpose of this study was to examine changes in the use of cytogenetic testing and identification of chromosomal abnormalities among pregnancies and children with birth defects. Utilizing data from 1968 to 2005 from the Metropolitan Atlanta Congenital Defects Program, we analyzed trends in the frequency and timing (prenatal or postnatal) of cytogenetic testing and the prevalence of recognized chromosome abnormalities among pregnancies and children with birth defects (n = 51,424). Cytogenetic testing of pregnancies and children with birth defects increased from 7.2% in 1968 to 25.0% in 2005, as did the identification of chromosomal abnormalities (2.2% in 1968 to 6.8% in 2005). The use of prenatal cytogenetic testing decreased from 1996 to 2005 among women aged ≥35 years. Identification of chromosomal abnormalities in pregnancies and children with birth defects increased from 1968 to 2005, possibly due to increased testing, improved diagnostic techniques, or increasing maternal age. The decline in prenatal cytogenetic testing observed among mothers aged ≥35 years may be related to the availability of improved prenatal screening techniques, resulting in a reduction in the utilization of invasive diagnostic tests. Published 2011 Wiley Periodicals, Inc. This article is a U.S. Government work and is in the public domain in the USA.

Effect of Concomitant Birth Defects and Genetic Anomalies on Infant Mortality in Tetralogy of Fallot.

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Jernigan, Eric G; Strassle, Paula D; Stebbins, Rebecca C; Meyer, Robert E; Nelson, Jennifer S

2017-08-15

A substantial proportion of infants born with tetralogy of Fallot (TOF) die in infancy. A better understanding of the heterogeneity associated with TOF, including extracardiac malformations and chromosomal anomalies is vital to stratifying risk and optimizing outcomes during infancy. Using the North Carolina Birth Defects Monitoring Program, infants diagnosed with TOF and born between 2003 and 2012 were included. Kaplan-Meier survival curves were used to estimate cumulative 1-year mortality, stratified by the presence of concomitant birth defects (BDs) and chromosomal anomalies. Multivariable logistic regression was used to estimate the direct effect of each concomitant BD, after adjusting for all others. A total of 496 infants with TOF were included, and 15% (n = 76) died. The number of concomitant BD systems was significantly associated with the risk of death at 1-year, p < 0.0001. Specifically, the risk of mortality was 8% among infants with TOF with or without additional cardiac defects, 16% among infants with TOF and 1 extracardiac BD system, 19% among infants with 2 extracardiac BD systems, and 39% among infants with ≥ 3 extracardiac BD systems. After adjustment, concomitant eye and gastrointestinal defects were significantly associated increased with 1-year mortality, odds ratio 2.83 (95% confidence interval, 1.08-7.32) and odds ratio 4.43 (95% confidence interval, 1.57, 12.45), respectively. Infants with trisomy 13 or trisomy 18 were also significantly more likely to die, p < 0.0001. Both concomitant BDs and genetic anomalies increase the risk of mortality among infants with TOF. Future studies are needed to identify the underlying genetic and socioeconomic risk factors for high-risk TOF infants. Birth Defects Research 109:1154-1165, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Proceedings of the Conference on Birth Defects for Educators (May 4, 1978).

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Davidson, Michael S., Ed.; Davidson, Mary W., Ed.

Six papers from a 1978 conference on birth defects focus on prevention. G. Stickle ("The Health of America's Babies: How Do We Stack Up?'" reviews risk in pregnancy, cites inadequate prenatal care and maternal nutrition, and discusses examples of how the United States is not applying its knowledge of how to improve pregnancy outcome. In "Genetic…

The Danish national quality database for births

DEFF Research Database (Denmark)

Andersson, Charlotte Brix; Flems, Christina; Kesmodel, Ulrik Schiøler

2016-01-01

Aim of the database: The aim of the Danish National Quality Database for Births (DNQDB) is to measure the quality of the care provided during birth through specific indicators. Study population: The database includes all hospital births in Denmark. Main variables: Anesthesia/pain relief, continuous...... Medical Birth Registry. Registration to the Danish Medical Birth Registry is mandatory for all maternity units in Denmark. During the 5 years, performance has improved in the areas covered by the process indicators and for some of the outcome indicators. Conclusion: Measuring quality of care during...

Overview of Epidemiology, Genetics, Birth Defects, and Chromosome Abnormalities Associated With CDH

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Pober, Barbara R.

2010-01-01

Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. PMID:17436298

Construction of HMI Network System for Individualized Maternity Intervention Service against Birth Defects in Community

Institute of Scientific and Technical Information of China (English)

Xu-huai HU

2007-01-01

The paper expounds the community maternity service system against birth defects,from the viewpoint of individualized service in family planning. We have utilized modern information technology to develop health management information (HMI) network with individualized maternity, and to establish the community service system for intervention of birth defects. The service system applied the concept of modern health management information to implementing informational management for screening,treatment, following up, outcome monitoring, so as to provide a base for promotion of health, diagnosis, treatment as well as scientific research, with the prenatal screening of Down's syndrome as a model. The introduction to informational network during the processes of service has been carried out with regards to its composition, function and application, while introducing the effects of computerized case record individualized in prevention, management and research of Down's syndrome.

Geospatial clustering of gastroschisis in Poland: Data from the Polish Registry of Congenital Malformations (PRCM

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Anna Materna-Kiryluk

2016-06-01

Full Text Available Objectives: The aims of this study were: to evaluate the prevalence of abdominal wall defects in the Polish population, to analyze temporal trends in the prevalence, to identify areas (clusters of high risk of abdominal wall defects, and to characterize, with respect to epidemiology, children with abdominal wall defects and their mothers in the area defined as a cluster. Material and Methods: We used isolated congenital malformations (gastroschisis Q79.3 and omphalocele Q79.2 according to the International Statistical Classification of Diseases and Related Health Problems, 10th revision (ICD-10, the extended version data reported to the Polish Registry of Congenital Malformations (PRCM over the years 1998– 2008 based on the population of 2 362 502 live births. We analyzed 11 administrative regions of Poland with complete epidemiologic data. Results: Of 11 regions, 2 had a significantly higher standardized prevalence of isolated gastroschisis: Dolnośląskie (1.7/10 000 live births, p = 0.0052 and Śląskie (1.9/10 000 live births, p < 0.0001. Furthermore, within the region of Dolnośląskie, we defined a clear prevalence of the isolated gastroschisis cluster (p = 0.023. We comprehensively examined demographic and socio-economic risk factors for abdominal wall defects in this area, and we found that these factors failed to account for the cluster. Conclusions: We identified a distinct prevalence cluster for isolated gastroschisis, although a precise reason for the disease clustering in this region remains unknown. Cluster identification enables more focused research aimed at identification of specific factors with teratogenic effects.

Cerebral palsy in eastern Denmark: declining birth prevalence but increasing numbers of unilateral cerebral palsy in birth year period 1986-1998

DEFF Research Database (Denmark)

Ravn, Susanne Holst; Flachs, Esben Meulengracht; Uldall, Peter

2010-01-01

The Cerebral Palsy Registry in eastern Denmark has been collecting cases using a uniform data sampling procedure since birth year 1979. Children are included by two child neurologists and an obstetrician. Information on pregnancy, birth, neonatal period, impairments and demographic data are regis......The Cerebral Palsy Registry in eastern Denmark has been collecting cases using a uniform data sampling procedure since birth year 1979. Children are included by two child neurologists and an obstetrician. Information on pregnancy, birth, neonatal period, impairments and demographic data...

First-trimester exposure to metformin and risk of birth defects: a systematic review and meta-analysis.

Science.gov (United States)

Cassina, Matteo; Donà, Marta; Di Gianantonio, Elena; Litta, Pietro; Clementi, Maurizio

2014-01-01

Metformin is generally considered a non-teratogenic drug; however, only a few studies specifically designed to assess the rate of congenital anomalies after metformin use have been published in the literature. The objects of the present study were to review all of the prospective and retrospective studies reporting on women treated with metformin at least during the first trimester of their pregnancy and to estimate the overall rate of major birth defects. Databases were searched for English language articles until December 2013. Inclusion criteria for the meta-analysis were: a case group of women with PCOS or pre-pregnancy type 2 diabetes and first-trimester exposure to metformin; a disease-matched control group which was not exposed to metformin or other oral anti-diabetic agents; and a list of the major anomalies in both the study and the control groups. A random effects model was used for the meta-analysis of data, using odds ratios. Studies not fulfilling the inclusion criteria for the meta-analysis but reporting relevant data on major malformations in women diagnosed with PCOS were then used to estimate the overall birth defects rate. Meta-analysis of nine controlled studies with women affected by PCOS detected that the rate of major birth defects in the metformin-exposed group was not statistically increased compared with the disease-matched control group and that there was no significant heterogeneity among the studies. The metformin-exposed sample was composed of 351 pregnancies and the OR of major birth defects was 0.86 (95% confidence interval: 0.18-4.08; Pheterogeneity = 0.71). By evaluating all of the non-overlapping PCOS studies reported in the literature, even those without an appropriate control group, the overall rate of major anomalies was 0.6% in the sample of 517 women who discontinued the therapy upon conception or confirmation of pregnancy and 0.5% in the sample of 634 women who were treated with metformin throughout the first trimester of

Birth defects data for 8 California counties by county, maternal age, maternal race/ethnicity, and infant gender for the years 2000-2006.

Data.gov (United States)

California Environmental Health Tracking Program — This dataset contains counts, rates, and confidence intervals of 12 selected birth defects among live births during 2000-2006 within eight California counties:...

Defeitos congênitos no Município do Rio de Janeiro, Brasil: uma avaliação através do SINASC (2000-2004 Birth defects in Rio de Janeiro, Brazil: an evaluation through birth certificates (2000-2004

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Fernando Antônio Ramos Guerra

2008-01-01

Full Text Available Avaliou-se a ocorrência de defeitos congênitos em nascidos vivos no Município do Rio de Janeiro, Brasil, com base no Sistema de Informações sobre Nascidos Vivos (SINASC, no período de 1º de janeiro de 2000 a 31 de dezembro de 2004. Através de um estudo seccional e descritivo, estudaram-se as variáveis relativas aos defeitos congênitos (presença e aparelho ou sistema acometido, aos serviços de saúde, às mães, às gestações, aos recém-natos e aos partos. Constatou-se uma prevalência de defeitos congênitos de 83/10 mil nascidos vivos. Os sistemas orgânicos mais afetados foram o osteomuscular, nervoso central, genital, as fendas lábio-palatinas e as anomalias cromossômicas. A maioria dos casos nasceu nas maternidades municipais e na rede privada, e maior prevalência de defeitos congênitos ocorreu no Instituto Fernandes Figueira da Fundação Oswaldo Cruz. Os defeitos congênitos foram mais prevalentes entre os filhos de mulheres mais velhas e menos instruídas. O percentual de casos ignorados foi alto, chegando a 21% em algumas maternidades. Uma maior divulgação das informações do SINASC sobre defeitos congênitos deveria ser estimulada. Estudos de confiabilidade são recomendados para melhor aproveitamento das informações.To evaluate the occurrence of birth defects in the city of Rio de Janeiro, Brazil, using the Live Birth Information System (SINASC, we performed a cross-sectional study on all live newborns with birth defects from January 1, 2000, to December 31, 2004. The variables referred to birth defects (presence and system affected, type of health service, mothers, gestations, live births, and deliveries. Prevalence of birth defects was 83/10,000 live births. The most frequent birth defects involved the musculoskeletal system, central nervous system, cleft lip and palate, and chromosomal anomalies. The majority of cases were born in public (municipal and private maternity hospitals, with the highest prevalence

Long-term mortality in patients with atrial septal defect

DEFF Research Database (Denmark)

Nyboe, Camilla; Karunanithi, Zarmiga; Nielsen-Kudsk, Jens Erik

2018-01-01

Aims: In this nationwide cohort of atrial septal defect (ASD) patients, the largest to date, we report the longest follow-up time with and without closure in childhood and adulthood compared with a general population cohort. Methods and results: Using population-based registries, we included Danish...... individuals born before 1994 who received an ASD diagnosis between 1959 and 2013. All diagnoses were subsequently validated (n = 2277). Using the Kaplan-Meier estimates and Cox proportional hazards regression adjusted for sex, birth year, and a modified Charlson Comorbidity Index, we compared the mortality...... of ASD patients with that of a birth year and sex matched general population cohort. The median follow-up from ASD diagnosis was 18.1 years (range 1-53 years). Patients with ASD had a higher mortality [adjusted hazard ratio (HR): 1.7; 95% confidence interval (CI): 1.5-1.9] compared with the general...

Risk factors and birth prevalence of birth defects and inborn errors of ...

African Journals Online (AJOL)

raoul

2011-02-23

Feb 23, 2011 ... methylmalonic aciduria, and maple syrup urine disease (MSUD) had their diagnoses confirmed by enzyme assay. The diagnosis of all ... Personal information like date of birth, sex, area of residence, mother's age at birth, father's age, order of birth, birth weight, gestational age on birth, medical history and ...

Congenital Heart Defects and CCHD

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... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

An exploratory analysis of the relationship between ambient ozone and particulate matter concentrations during early pregnancy and selected birth defects in Texas

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Background: Associations between ozone (O3) and fine particulate matter (PM2.5) concentrations and birth outcomes have been previously demonstrated. We perform an exploratory analysis of O3 and PM2.5 concentrations during early pregnancy and multiple types of birth defects. Met...

Birth characteristics and Wilms tumors in children in the Nordic countries

DEFF Research Database (Denmark)

Schüz, Joachim; Schmidt, Lisbeth Samsø; Kogner, Per

2011-01-01

Little is known about causes of Wilms tumor. Because of the young age at diagnosis, several studies have looked at various birth characteristics. We conducted a registry-based case-control study involving 690 cases of Wilms tumor aged 0-14 years, occurring in Denmark, Finland, Norway or Sweden...... during 1985-2006, individually matched to five controls drawn randomly from the Nordic childhood population. Information on birth characteristics was obtained from the population-based medical birth registries. We estimated odds ratios (ORs) and 95% confidence intervals (CIs) using conditional logistic......-for-gestational age girls also had a higher risk (2.48, 1.51-4.05), whereas no effect was seen for boys (1.12, 0.60-2.07). An association was seen with Apgar score at 5 min birth order. In our large-scale, registry...

The Vermont oxford neonatal encephalopathy registry: rationale, methods, and initial results

Science.gov (United States)

2012-01-01

Background In 2006, the Vermont Oxford Network (VON) established the Neonatal Encephalopathy Registry (NER) to characterize infants born with neonatal encephalopathy, describe evaluations and medical treatments, monitor hypothermic therapy (HT) dissemination, define clinical research questions, and identify opportunities for improved care. Methods Eligible infants were ≥ 36 weeks with seizures, altered consciousness (stupor, coma) during the first 72 hours of life, a 5 minute Apgar score of ≤ 3, or receiving HT. Infants with central nervous system birth defects were excluded. Results From 2006–2010, 95 centers registered 4232 infants. Of those, 59% suffered a seizure, 50% had a 5 minute Apgar score of ≤ 3, 38% received HT, and 18% had stupor/coma documented on neurologic exam. Some infants experienced more than one eligibility criterion. Only 53% had a cord gas obtained and only 63% had a blood gas obtained within 24 hours of birth, important components for determining HT eligibility. Sixty-four percent received ventilator support, 65% received anticonvulsants, 66% had a head MRI, 23% had a cranial CT, 67% had a full channel encephalogram (EEG) and 33% amplitude integrated EEG. Of all infants, 87% survived. Conclusions The VON NER describes the heterogeneous population of infants with NE, the subset that received HT, their patterns of care, and outcomes. The optimal routine care of infants with neonatal encephalopathy is unknown. The registry method is well suited to identify opportunities for improvement in the care of infants affected by NE and study interventions such as HT as they are implemented in clinical practice. PMID:22726296

Notes from the Field: Zika Virus-Associated Neonatal Birth Defects Surveillance - Texas, January 2016-July 2017.

Science.gov (United States)

Hall, Noemi Borsay; Broussard, Kelly; Evert, Nicole; Canfield, Mark

2017-08-11

On November 28, 2016, the Texas Department of State Health Services (Texas DSHS) reported its first confirmed case of local mosquitoborne Zika virus transmission in the city of Brownsville, located in south Texas along the U.S.-Mexico border. Zika virus infection during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, congenital deafness, and limb contractures (1). On January 1, 2016, Texas DSHS established enhanced surveillance to identify women with laboratory evidence of possible Zika virus infection during pregnancy and suspected cases of Zika virus-associated birth defects among completed pregnancies.

Neural Tube Defects

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Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the ... that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In ...

Abdominal Wall Defects in Greenland 1989-2015.

Science.gov (United States)

Bugge, Merete; Drachmann, Gitte; Kern, Peder; Budtz-Jørgensen, Esben; Eiberg, Hans; Olsen, Britta; Tommerup, Niels; Nielsen, Inge-Merete

2017-07-03

In the last decades, an increasing rate of gastroschisis but not of omphalocele has been reported worldwide. Greenland is the world's largest island, but 80% is covered by an ice cap, it has a small population of around 56,000 peoples (as of 2016). The occurrence of abdominal wall defects has never been investigated in Greenland. The present study is based on data retrieved from three nationwide and two local registries in the Greenlandic health care system over 27 years (1989-2015). We identified 33 infants with abdominal wall defects born in the study time period. All cases were reclassified to 28 cases of gastroschisis, four cases of omphalocele, and there was 1 infant in the indeterminate group. The point prevalence at birth for gastroschisis increased significantly from 8 to 35 (average 10.7) per 10,000 liveborn and -stillborn infants. Mothers below 20 years of age represented 23% of all cases and the prevalence for this group was 17 per 10,000 liveborn and stillborn. Perinatal mortality for infants with gastroschisis was high (18%), and 1 year survival was 71%. For omphalocele, the prevalence varied from 8 to 11 per 10,000 liveborn and stillborn infants. There was no increasing rate in the period, further highlighting an etiological difference between gastroschisis and omphalocele. This study confirms the increasing prevalence of gastroschisis in Greenland in the period from 1989 to 2015. The average was 10.7 per 10,000 liveborn and -stillborn infants and, to the best of our knowledge, this is the highest prevalence ever reported. Birth Defects Research 109:836-842, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Impact of time to maternal interview on interview responses in the National Birth Defects Prevention Study.

Science.gov (United States)

Tinker, Sarah C; Gibbs, Cassandra; Strickland, Matthew J; Devine, Owen J; Crider, Krista S; Werler, Martha M; Anderka, Marlene T; Reefhuis, Jennita

2013-06-01

Prenatal exposures often are assessed using retrospective interviews. Time from exposure to interview may influence data accuracy. We investigated the association of time to interview (TTI) with aspects of interview responses in the National Birth Defects Prevention Study, a population-based case-control study of birth defects in 10 US states. Mothers completed a computer-assisted telephone interview 1.5-24 months after their estimated date of delivery. Proxy metrics for interview quality were whether certain exposures were reported, whether the start month of reported medication use or illness was reported, or whether responses were missing. Interaction by case status was assessed. Interviews were completed with 30,542 mothers (22,366 cases and 8,176 controls) who gave birth between 1997 and 2007. Mothers of cases were interviewed later than were mothers of controls (11.7 months vs. 9.5 months, respectively). In adjusted analyses, having a TTI that was greater than 6 months was associated with only a few aspects of interview responses (e.g., start month of pseudoephedrine use). Interaction by case-control status was observed for some exposures; mothers of controls had a greater reduction in interview quality with increased TTI in these instances (e.g., report of morning sickness, start month of acetaminophen use and ibuprofen use). The results suggest that TTI might impact interview responses; however, the impact may be minimal and specific to the type of exposure.

Maternal obesity and congenital heart defects: a population-based study123

Science.gov (United States)

Mills, James L; Troendle, James; Conley, Mary R; Carter, Tonia; Druschel, Charlotte M

2010-01-01

Background: Obesity affects almost one-third of pregnant women and causes many complications, including neural tube defects. It is not clear whether the risk of congenital heart defects, the most common malformations, is also increased. Objective: This study was conducted to determine whether obesity is associated with an increased risk of congenital heart defects. Design: A population-based, nested, case-control study was conducted in infants born with congenital heart defects and unaffected controls from the cohort of all births (n = 1,536,828) between 1993 and 2003 in New York State, excluding New York City. The type of congenital heart defect, maternal body mass index (BMI; in kg/m2), and other risk factors were obtained from the Congenital Malformations Registry and vital records. Mothers of 7392 congenital heart defect cases and 56,304 unaffected controls were studied. Results: All obese women (BMI ≥ 30) were significantly more likely than normal-weight women (BMI: 19–24.9) to have children with a congenital heart defect [odds ratio (OR): 1.15; 95% CI: 1.07, 1.23; P heart defects with increasing maternal obesity (P heart syndrome, aortic stenosis, pulmonic stenosis, and tetralogy of Fallot. Conclusions: Obese, but not overweight, women are at significantly increased risk of bearing children with a range of congenital heart defects, and the risk increases with increasing BMI. Weight reduction as a way to reduce risk should be investigated. PMID:20375192

Risk factors in limb reduction defects.

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Stoll, C; Alembik, Y; Dott, B; Roth, M P

1992-07-01

Risk factors were studied in 123 children with limb reduction defects (LRD) from 118,265 consecutive births of known outcome during the period from 1979 to 1987 in the area which is covered by our registry of congenital malformations. For each case a control was studied. The LRD was localised and classified according to the EUROCAT guide for the description and classification of limb defects. The prevalence of LRD was 1.04 per thousand: 82.9% of the babies were liveborn, 13.0% were late spontaneous abortion or stillborn and termination was performed in 4.0% of the cases. The proportion of males was 0.55. The most common malformations in the 51.2% of children who had at least one other anomaly than LRD were associated cardiac, digestive and renal anomalies. The pregnancy with limb anomalies was more often complicated by oligohydramnios, polyhydramnios and threatened abortion but there were no differences in parental characteristics. However, 9.7% of marriages were consanguineous (P less than 0.01) and the incidence of LRD in first-degree relatives of the children with LRD was high. First-degree relatives also had more non-limb malformations than did those of controls.

50 CFR 600.1410 - Registry process.

Science.gov (United States)

2010-10-01

... United States § 600.1410 Registry process. (a) A person may register through the NMFS web site at www... state registration or U.S. Coast Guard documentation number; home port or principal area of operation... website. (b) Individuals must submit their name; address; telephone number; date of birth; region(s) of...

Novel features of 3q29 deletion syndrome: Results from the 3q29 registry

Science.gov (United States)

Glassford, Megan R.; Rosenfeld, Jill A.; Freedman, Alexa A.; Zwick, Michael E.

2016-01-01

3q29 deletion syndrome is caused by a recurrent, typically de novo heterozygous 1.6 Mb deletion, but because incidence of the deletion is rare (1 in 30,000 births) the phenotype is not well described. To characterize the range of phenotypic manifestations associated with 3q29 deletion syndrome, we have developed an online registry (3q29deletion.org) for ascertainment of study subjects and phenotypic data collection via Internet‐based survey instruments. We report here on data collected during the first 18 months of registry operation, from 44 patients. This is the largest cohort of 3q29 deletion carriers ever assembled and surveyed in a systematic way. Our data reveal that 28% of registry participants report neuropsychiatric phenotypes, including anxiety disorder, panic attacks, depression, bipolar disorder, and schizophrenia. Other novel findings include a high prevalence (64%) of feeding problems in infancy and reduced weight at birth for 3q29 deletion carriers (average reduction 13.9 oz (394 g), adjusted for gestational age and sex, P = 6.5e‐07). We further report on the frequency of heart defects, autism, recurrent ear infections, gastrointestinal phenotypes, and dental phenotypes, among others. We also report on the expected timing of delayed developmental milestones. This is the most comprehensive description of the 3q29 deletion phenotype to date. These results are clinically actionable toward improving patient care for 3q29 deletion carriers, and can guide the expectations of physicians and parents. These data also demonstrate the value of patient‐reported outcomes to reveal the full phenotypic spectrum of rare genomic disorders. © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc. PMID:26738761

Birth outcome in women with ulcerative colitis and Crohn's disease, and pharmacoepidemiological aspects of anti-inflammatory drug therapy

DEFF Research Database (Denmark)

Nørgård, Bente Mertz

2011-01-01

, including patients with ulcerative colitis and Crohn's disease. The third part (and the latest publications) includes birth outcome in women with Crohn's disease; and the methods of cohort establishment in these studies are developed and improved due to the knowledge gathered from conducting the earlier...... prescription Database, the Danish National Hospital Discharge Registry, the Danish Medical Birth Registry, and review of selected medical records. After exposure to sulfasalazine during pregnancy our data suggest. No significantly increased overall relative risk of congenital abnormalities and no significantly...... National Hospital Discharge Registry, the nationwide Danish Prescription Database and the Danish Medical Birth Registry. Furthermore, birth outcomes are examined in Crohn's disease women with disease activity during pregnancy, based on data from review of hospital records, the Danish National Hospital...

Birth defects in Norway by levels of external and food-based exposure to radiation from Chernobyl

International Nuclear Information System (INIS)

Lie, R.T.; Irgens, L.M.; Skjaerven, R.; Reitan, J.B.; Strand, P.; Strand, T.

1992-01-01

In Norway, external doses of radiation resulting from fallout from the Chernobyl nuclear accident were estimated from detailed measurements, including soil deposition patterns. Internal doses were estimated from measurements of radioactive cesium in meat and milk supplies. The doses were calculated as average monthly doses for each of 454 municipalities during 36 consecutive months after the accident in spring 1986. Prospectively collected data on all newborns listed in the Medical Birth Registry of Norway who were conceived in the period May 1983-April 1989 were used to assess possible dose-response relations between estimated external and food-based exposures and congenital malformations and some other conditions. A positive association was observed between total radiation dose (external plus food-based) and hydrocephaly, while a negative association was observed for Down's syndrome. However, an important conclusion of the study was that no associations were found for conditions previously reported to be associated with radiation, i.e., small head circumference, congenital cataracts, anencephaly, spina bifida, and low birth weight. Potential sources of bias, including exposure misclassification and incomplete ascertainment of cases, are discussed

Birthing Healthy Babies (A Minute of Health with CDC)

Centers for Disease Control (CDC) Podcasts

Birth defects are common, costly, and critical. If you're pregnant or planning to get pregnant, you can take steps to improve your chances of giving birth to a healthy child. This podcast discusses ways to prevent birth defects.

Birth Defects Research and Tracking

Science.gov (United States)

... Basis for Future Research on Medication Use During Pregnancy (Published: July 15, 2016) Key Findings: Antibiotic Use among Women with Urinary Tract Infections in the First Trimester of Pregnancy and Birth ...

Cerebral palsy in eastern Denmark: declining birth prevalence but increasing numbers of unilateral cerebral palsy in birth year period 1986-1998

DEFF Research Database (Denmark)

Ravn, Susanne Holst; Flachs, Esben Meulengracht; Uldall, Peter

2010-01-01

The Cerebral Palsy Registry in eastern Denmark has been collecting cases using a uniform data sampling procedure since birth year 1979. Children are included by two child neurologists and an obstetrician. Information on pregnancy, birth, neonatal period, impairments and demographic data...... are registered. The total cerebral palsy birth prevalence has been significantly decreasing since the birth period 1983-1986 with 3.0 per 1000 live births until the period 1995-1998 with 2.1 per 1000 live births. The overall decrease was seen in preterm infants (...

Maternal dietary intake of nitrates, nitrites and nitrosamines and selected birth defects in offspring: a case-control study.

Science.gov (United States)

Huber, John C; Brender, Jean D; Zheng, Qi; Sharkey, Joseph R; Vuong, Ann M; Shinde, Mayura U; Griesenbeck, John S; Suarez, Lucina; Langlois, Peter H; Canfield, Mark A; Romitti, Paul A; Weyer, Peter J

2013-03-21

Dietary intake of nitrates, nitrites, and nitrosamines can increase the endogenous formation of N-nitroso compounds in the stomach. Results from animal studies suggest that these compounds might be teratogenic. We examined the relationship between maternal dietary intake of nitrates, nitrites (including plant and animal sources as separate groups), and nitrosamines and several types of birth defects in offspring. For this population-based case-control study, data from a 58-question food frequency questionnaire, adapted from the short Willett Food Frequency Questionnaire and administered as part of the National Birth Defects Prevention Study (NBDPS), were used to estimate daily intake of dietary nitrates, nitrites, and nitrosamines in a sample of 6544 mothers of infants with neural tube defects (NTD)s, oral clefts (OC)s, or limb deficiencies (LD)s and 6807 mothers of unaffected control infants. Total daily intake of these compounds was divided into quartiles based on the control mother distributions. Odds ratios (OR)s and 95% confidence intervals (CI)s were estimated using logistic regression; estimates were adjusted for maternal daily caloric intake, maternal race-ethnicity, education, dietary folate intake, high fat diet (>30% of calories from fat), and state of residence. While some unadjusted ORs for NTDS had 95% (CI)s that excluded the null value, none remained significant after adjustment for covariates, and the effect sizes were small (adjusted odds ratios [aOR]nitrate, nitrite, and nitrosamines.

Development and validation of a national data registry for midwife-led births: the Midwives Alliance of North America Statistics Project 2.0 dataset.

Science.gov (United States)

Cheyney, Melissa; Bovbjerg, Marit; Everson, Courtney; Gordon, Wendy; Hannibal, Darcy; Vedam, Saraswathi

2014-01-01

In 2004, the Midwives Alliance of North America's (MANA's) Division of Research developed a Web-based data collection system to gather information on the practices and outcomes associated with midwife-led births in the United States. This system, called the MANA Statistics Project (MANA Stats), grew out of a widely acknowledged need for more reliable data on outcomes by intended place of birth. This article describes the history and development of the MANA Stats birth registry and provides an analysis of the 2.0 dataset's content, strengths, and limitations. Data collection and review procedures for the MANA Stats 2.0 dataset are described, along with methods for the assessment of data accuracy. We calculated descriptive statistics for client demographics and contributing midwife credentials, and assessed the quality of data by calculating point estimates, 95% confidence intervals, and kappa statistics for key outcomes on pre- and postreview samples of records. The MANA Stats 2.0 dataset (2004-2009) contains 24,848 courses of care, 20,893 of which are for women who planned a home or birth center birth at the onset of labor. The majority of these records were planned home births (81%). Births were attended primarily by certified professional midwives (73%), and clients were largely white (92%), married (87%), and college-educated (49%). Data quality analyses of 9932 records revealed no differences between pre- and postreviewed samples for 7 key benchmarking variables (kappa, 0.98-1.00). The MANA Stats 2.0 data were accurately entered by participants; any errors in this dataset are likely random and not systematic. The primary limitation of the 2.0 dataset is that the sample was captured through voluntary participation; thus, it may not accurately reflect population-based outcomes. The dataset's primary strength is that it will allow for the examination of research questions on normal physiologic birth and midwife-led birth outcomes by intended place of birth. �

Tritium releases from the Pickering Nuclear Generating Station and birth defects and infant mortality in nearby communities 1971-1988

International Nuclear Information System (INIS)

Johnson, K.C.; Rouleau, J.

1991-10-01

This study was commissioned to examine whether there were elevated rates of stillbirth, birth defects, or death in the first year of life between 1971 and 1988 among offspring of residents of communities within a 25-kilometre radius of the Pickering Nuclear Generating Station. The study was also to investigate whether there were any statistical associations between the monthly airborne or waterborne tritium emissions from the Pickering Nuclear Generating Station and the rates of these reproductive outcomes. Overall analysis did not support a hypothesis of increased rates of stillbirths, neonatal mortality or infant mortality near the Pickering Nuclear Generating Station, or a hypothesis of increased birth prevalence of birth defects for 21 of 22 diagnostic categories. The prevalence of Down Syndrome was elevated in both Pickering and Ajax; however, there was no consistent pattern between tritium release levels and Down Syndrome prevalence, chance could not be ruled out for the associations between Down Syndrome and tritium releases or ground-monitored concentrations, the association was detected in an analysis where multiple testing was done which may turn up significant associations by change, and maternal residence at birth and early in pregnancy needs to be verified. The association between Down Syndrome and low-level radiation remains indeterminate when existing evidence from epidemiological studies is summed. The estimated radiation exposure from the nuclear plant for residents of Pickering and Ajax is lower by a factor of 100 than the normal natural background radiation. Further study is recommended. (21 tabs., 29 figs., 5 maps, 37 refs.)

Trends of selected malformations in relation to folic acid recommendations and fortification: an international assessment.

LENUS (Irish Health Repository)

Botto, Lorenzo D

2006-10-01

Two crucial issues relative to the benefits and impact of folic acid in the prevention of birth defects are whether supplementation recommendations alone, without fortification, are effective in reducing the population-wide rates of neural tube defects (NTDs), and whether such policies can reduce the occurrence of other birth defects. Using data from 15 registries, we assessed rates and trends of 14 major defects, including NTDs, in areas with official recommendations or fortification to assess the effectiveness of recommendations and fortification on a wide range of major birth defects.

Reducing selection bias in case-control studies from rare disease registries.

Science.gov (United States)

Cole, J Alexander; Taylor, John S; Hangartner, Thomas N; Weinreb, Neal J; Mistry, Pramod K; Khan, Aneal

2011-09-12

In clinical research of rare diseases, where small patient numbers and disease heterogeneity limit study design options, registries are a valuable resource for demographic and outcome information. However, in contrast to prospective, randomized clinical trials, the observational design of registries is prone to introduce selection bias and negatively impact the validity of data analyses. The objective of the study was to demonstrate the utility of case-control matching and the risk-set method in order to control bias in data from a rare disease registry. Data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry were used as an example. A case-control matching analysis using the risk-set method was conducted to identify two groups of patients with type 1 Gaucher disease in the ICGG Gaucher Registry: patients with avascular osteonecrosis (AVN) and those without AVN. The frequency distributions of gender, decade of birth, treatment status, and splenectomy status were presented for cases and controls before and after matching. Odds ratios (and 95% confidence intervals) were calculated for each variable before and after matching. The application of case-control matching methodology results in cohorts of cases (i.e., patients with AVN) and controls (i.e., patients without AVN) who have comparable distributions for four common parameters used in subject selection: gender, year of birth (age), treatment status, and splenectomy status. Matching resulted in odds ratios of approximately 1.00, indicating no bias. We demonstrated bias in case-control selection in subjects from a prototype rare disease registry and used case-control matching to minimize this bias. Therefore, this approach appears useful to study cohorts of heterogeneous patients in rare disease registries.

Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Science.gov (United States)

Bermejo-Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bianca, Sebastiano; Bianchi, Fabrizio; Botto, Lorenzo D; Canfield, Mark A; Castilla, Eduardo E; Clementi, Maurizio; Cocchi, Guido; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, R Brian; Mastroiacovo, Pierpaolo; Mutchinick, Osvaldo M; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Martínez-Frías, María-Luisa

2011-11-15

Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52-0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 g; most MCA (60.7%) weighed less than 2,500 g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. Copyright © 2011 Wiley Periodicals, Inc.

Phocomelia: A Worldwide Descriptive Epidemiologic Study in a Large Series of Cases From the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature

Science.gov (United States)

Bermejo-Sánchez, Eva; Cuevas, Lourdes; Amar, Emmanuelle; Bianca, Sebastiano; Bianchi, Fabrizio; Botto, Lorenzo D.; Canfield, Mark A.; Castilla, Eduardo E.; Clementi, Maurizio; Cocchi, Guido; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Mastroiacovo, Pierpaolo; Mutchinick, Osvaldo M.; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Martínez-Frías, María-Luisa

2015-01-01

Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52–0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 g; most MCA (60.7%) weighed less than 2,500 g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. PMID:22002800

Choroidal thickness in relation to birth parameters in 11- to 12-year-old children

DEFF Research Database (Denmark)

Li, Xiao Q; Munkholm, Anja; Larsen, Michael

2015-01-01

biometry and measurement of height, weight, refraction, and self-reported pubertal development status. Birth parameters were obtained from the Danish Medical Birth Registry. RESULTS: The subfoveal choroid in low birth weight children (

Sirenomelia : An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research, and Literature Review

NARCIS (Netherlands)

Orioli, Ieda M.; Amar, Emmanuelle; Arteaga-Vazquez, Jazmin; Bakker, Marian K.; Bianca, Sebastiano; Botto, Lorenzo D.; Clementi, Maurizio; Correa, Adolfo; Csaky-Szunyogh, Melinda; Leoncini, Emanuele; Li, Zhu; Lopez-Camelo, Jorge S.; Lowry, R. Brian; Marengo, Lisa; Martinez-Frias, Maria-Luisa; Mastroiacovo, Pierpaolo; Morgan, Margery; Pierini, Anna; Ritvanen, Annukka; Scarano, Gioacchino; Szabova, Elena; Castilla, Eduardo E.

2011-01-01

Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system

Evaluating the completeness of the national ALS registry, United States.

Science.gov (United States)

Kaye, Wendy E; Wagner, Laurie; Wu, Ruoming; Mehta, Paul

2018-02-01

Our objective was to evaluate the completeness of the United States National ALS Registry (Registry). We compared persons with ALS who were passively identified by the Registry with those actively identified in the State and Metropolitan Area ALS Surveillance project. Cases in the two projects were matched using a combination of identifiers, including, partial social security number, name, date of birth, and sex. The distributions of cases from the two projects that matched/did not match were compared and Chi-square tests conducted to determine statistical significance. There were 5883 ALS cases identified by the surveillance project. Of these, 1116 died before the Registry started, leaving 4767 cases. We matched 2720 cases from the surveillance project to those in the Registry. The cases identified by the surveillance project that did not match cases in the Registry were more likely to be non-white, Hispanic, less than 65 years of age, and from western states. The methods used by the Registry to identify ALS cases, i.e. national administrative data and self-registration, worked well but missed cases. These findings suggest that developing strategies to identify and promote the Registry to those who were more likely to be missing, e.g. non-white and Hispanic, could be beneficial to improving the completeness of the Registry.

Prevalence of smoking before and during pregnancy and changes in this habit during pregnancy in Northwest Russia: a Murmansk county birth registry study.

Science.gov (United States)

Kharkova, Olga A; Krettek, Alexandra; Grjibovski, Andrej M; Nieboer, Evert; Odland, Jon Øyvind

2016-03-08

Smoking during pregnancy leads to adverse maternal and birth outcomes. However, the prevalence of smoking among women in Russia has increased from  20% in the 2000s. We conducted a registry-based study in Murmansk County, Northwest Russia. Our aims were twofold: (i) assess the prevalence of smoking before and during pregnancy; and (ii) examine the socio-demographic factors associated with giving up smoking or reducing the number of cigarettes smoked once pregnancy was established. This study employs data from the population-based Murmansk County Birth Registry (MCBR) collected during 2006-2011. We used logistic regression to investigate associations between women's socio-demographic characteristics and changes in smoking habit during pregnancy. To avoid departure from uniform risk within specific delivery departments, we employed clustered robust standard errors. Of all births registered in the MCBR, 25.2% of the mothers were smokers before pregnancy and 18.9% continued smoking during pregnancy. Cessation of smoking during pregnancy was associated with education, marital status and parity but not with maternal age, place of residence, and ethnicity. Women aged ≤ 20-24 years had higher odds of reducing the absolute numbers of cigarettes smoked per day during pregnancy than those aged ≥ 30-34 years. Moreover, smoking nulliparae and pregnant women who had one child were more likely to reduce the absolute numbers of cigarettes smoked per day compared to women having ≥ 2 children. About 25.0% of smoking women in the Murmansk County in Northwest Russia quit smoking after awareness of the pregnancy, and one-third of them reduced the number cigarettes smoked during pregnancy. Our study demonstrates that women who have a higher education, husband, and are primiparous are more likely to quit smoking during pregnancy. Maternal age and number of children are indicators that influence reduction in smoking during pregnancy. Our findings are useful in

Reducing selection bias in case-control studies from rare disease registries

Directory of Open Access Journals (Sweden)

Mistry Pramod K

2011-09-01

Full Text Available Abstract Background In clinical research of rare diseases, where small patient numbers and disease heterogeneity limit study design options, registries are a valuable resource for demographic and outcome information. However, in contrast to prospective, randomized clinical trials, the observational design of registries is prone to introduce selection bias and negatively impact the validity of data analyses. The objective of the study was to demonstrate the utility of case-control matching and the risk-set method in order to control bias in data from a rare disease registry. Data from the International Collaborative Gaucher Group (ICGG Gaucher Registry were used as an example. Methods A case-control matching analysis using the risk-set method was conducted to identify two groups of patients with type 1 Gaucher disease in the ICGG Gaucher Registry: patients with avascular osteonecrosis (AVN and those without AVN. The frequency distributions of gender, decade of birth, treatment status, and splenectomy status were presented for cases and controls before and after matching. Odds ratios (and 95% confidence intervals were calculated for each variable before and after matching. Results The application of case-control matching methodology results in cohorts of cases (i.e., patients with AVN and controls (i.e., patients without AVN who have comparable distributions for four common parameters used in subject selection: gender, year of birth (age, treatment status, and splenectomy status. Matching resulted in odds ratios of approximately 1.00, indicating no bias. Conclusions We demonstrated bias in case-control selection in subjects from a prototype rare disease registry and used case-control matching to minimize this bias. Therefore, this approach appears useful to study cohorts of heterogeneous patients in rare disease registries.

The experience of black parents/caretakers with the births and care of a child with profound congenital defects

Directory of Open Access Journals (Sweden)

M.S. Mabaso

1990-09-01

Full Text Available The reaction of Black families to the birth and care of a baby with profound congenital defects was researched using twenty case studies. It was found that the families went through stages of the grieving process, that they shifted from the Western/Christian viewpoint to the traditional viewpoint in their struggle to cope and that they find the existing services grossly inadequate.

Birthing Healthy Babies (A Minute of Health with CDC)

Centers for Disease Control (CDC) Podcasts

2018-01-11

Birth defects are common, costly, and critical. If you’re pregnant or planning to get pregnant, you can take steps to improve your chances of giving birth to a healthy child. This podcast discusses ways to prevent birth defects.  Created: 1/11/2018 by MMWR.   Date Released: 1/11/2018.

Congenital Heart Defects and Receipt of Special Education Services.

Science.gov (United States)

Riehle-Colarusso, Tiffany; Autry, Andrew; Razzaghi, Hilda; Boyle, Coleen A; Mahle, William T; Van Naarden Braun, Kim; Correa, Adolfo

2015-09-01

We investigated the prevalence of receipt of special education services among children with congenital heart defects (CHDs) compared with children without birth defects. Children born from 1982 to 2004 in metropolitan Atlanta with CHDs (n = 3744) were identified from a population-based birth defect surveillance program; children without birth defects (n = 860 715) were identified from birth certificates. Cohorts were linked to special education files for the 1992-2012 school years to identify special education services. Children with noncardiac defects or genetic syndromes were excluded; children with CHDs were classified by presence or absence of critical CHDs (ie, CHDs requiring intervention by age one year). We evaluated the prevalence of receipt of special education services and prevalence rate ratios using children without birth defects as a reference. Compared with children without birth defects, children with CHDs were 50% more likely to receive special education services overall (adjusted prevalence rate ratio [aPRR] = 1.5; 95% confidence interval [CI]: 1.4-1.7). Specifically, they had higher prevalence of several special education categories including: intellectual disability (aPRR = 3.8; 95% CI: 2.8-5.1), sensory impairment (aPRR = 3.0; 95% CI: 1.8-5.0), other health impairment (aPRR = 2.8; 95% CI: 2.2-3.5), significant developmental delay (aPRR = 1.9; 95% CI: 1.3-2.8), and specific learning disability (aPRR = 1.4; 95% CI: 1.1-1.7). For most special education services, the excess prevalence did not vary by presence of critical CHDs. Children with CHDs received special education services more often than children without birth defects. These findings highlight the need for special education services and the importance of developmental screening for all children with CHDs. Copyright © 2015 by the American Academy of Pediatrics.

Prevalence at birth of congenital malformations in communities near the Hanford site

International Nuclear Information System (INIS)

Sever, L.E.; Hessol, N.A.; Gilbert, E.S.; McIntyre, J.M.

1988-01-01

The authors examined the prevalence of congenital malformations among births in Benton and Franklin counties, in southeastern Washington State, from 1968 through 1980. The Hanford Site is in this area and serves as a major employer. In addition, various agriculturally and chemically related activities are in the area. Hospital and vital records were used to identify 454 malformation cases among 23,319 births; this yielded a malformation rate of 19.6 per 1000 births, a rate similar to those reported in other studies. The rates of specific malformations ascertained during the first year of life were compared with combined rates from the states of Washington, Oregon, and Idaho from the Birth Defects Monitoring Program. Among defects that would be expected to be comparably ascertained, a statistically significant elevated rate of neural tube defects was observed (1.72 per 1000 births vs. 0.99 per 1000). Rates of cleft lip were significantly lower in Benton and Franklin counties than in the Birth Defects Monitoring Program (0.59 per 1,000 vs. 1.17 per 1000). For congenital heart defects, pyloric stenosis, and Down syndrome, which are often not diagnosed in the newborn period, Birth Defects Monitoring Program data did not offer appropriate comparisons. The rates of these defects did not appear to be elevated in relation to rates found in other relevant populations. When rates of neural tube defects were compared with those in populations other than the Birth Defects Monitoring Program, the Benton and Franklin county rates were still considered to be elevated. The increased bicounty rate cannot be explained by employment of the parents at Hanford or by the impact of plant emissions on the local population

Quality assessment of home births in Denmark

DEFF Research Database (Denmark)

Jensen, Sabrina; Colmorn, Lotte B.; Schroll, Anne-Mette

2017-01-01

INTRODUCTION: The safety of home births has been widely debated. Observational studies examining maternal and neonatal outcomes of home births have become more frequent, and the quality of these studies has improved. The aim of the present study was to describe neonatal outcomes of home births...... compared with hospital births and to discuss which data are needed to evaluate the safety of home births. METHODS: This was a register-based cohort study. Data on all births in Denmark (2003-2013) were collected from the Danish Medical Birth Registry (DMBR). The cohort included healthy women...... with uncomplicated pregnancies and no medical interventions during delivery. A total of 6,395 home births and 266,604 hospital births were eligible for analysis. Comparative analyses were performed separately in nulliparous and multiparous women. The outcome measures were neonatal mortality and morbidity. RESULTS...

Quality assessment of home births in Denmark

DEFF Research Database (Denmark)

Jensen, Sabrina; Colmorn, Lotte B.; Schroll, Anne-Mette

2017-01-01

by nulliparous at home. CONCLUSIONS: This study indicates that home births in Denmark are characterized by a high level of safety owing to low rates of perinatal mortality and morbidity. Missing registration on intrapartum transfers and planned versus unplanned home births in the DMBR are, however, major......INTRODUCTION: The safety of home births has been widely debated. Observational studies examining maternal and neonatal outcomes of home births have become more frequent, and the quality of these studies has improved. The aim of the present study was to describe neonatal outcomes of home births...... compared with hospital births and to discuss which data are needed to evaluate the safety of home births. METHODS: This was a register-based cohort study. Data on all births in Denmark (2003-2013) were collected from the Danish Medical Birth Registry (DMBR). The cohort included healthy women...

Spatial distribution of orofacial cleft defect births in Harris County, Texas, 1990 to 1994, and historical evidence for the presence of low-level radioactivity in tap water.

Science.gov (United States)

Cech, Irina; Burau, Keith D; Walston, Jane

2007-06-01

While both ionizing and nonionizing radiation are known to impair human reproductive capacity, the role of low-level domestic radiation continues to be an unsettled issue. We examined the geostatistical distribution (residential longitude and latitude) of orofacial cleft birth cases adjusted for the underlying population distribution. Furthermore, we examined the cleft birth rates enumerated by zip codes for possible associations with levels of radium and radon in drinking water. Cleft births and unaffected live births in Harris County, Texas, from 1990 to 1994, were geocoded by residential addresses and tested for spatial clusters using the space-time clustering program SaTScan. Historical sample data on local variations in water quality facilitated the assessment of the association of orofacial cleft defect births with low-level radiation exposure. A cluster of significantly greater than expected numbers of cleft defect births was identified in northwest Harris County, (relative risk = 3.0, P = 0.043), where the presence of elevated levels of radium (> 3 pCi/L) and radon (> 300 pCi/L) in the tap water has been known since the 1980s. Despite the ecological design of the study, lacking individual exposure measurements for cleft birth residences, there was strong suggestive evidence of an association between elevated radiation levels in tap water and elevated cleft birth prevalence rates by zip codes. Attention of physicians is invited to environmental causes as potential risk factors for orofacial cleft. This would aid in genetic counseling and the development of future preventive measures.

Cumulative costs for the prosthetic reconstructions and maintenance in young adult patients with birth defects affecting the formation of teeth.

Science.gov (United States)

Incici, Erol; Matuliene, Giedre; Hüsler, Jürg; Salvi, Giovanni E; Pjetursson, Bjarni; Brägger, Urs

2009-07-01

To assess retrospectively the cumulative costs for the long-term oral rehabilitation of patients with birth defects affecting the development of teeth. Patients with birth defects who had received fixed reconstructions on teeth and/or implants > or =5 years ago were asked to participate in a comprehensive clinical, radiographic and economic evaluation. From the 45 patients included, 18 were cases with a cleft lip and palate, five had amelogenesis/dentinogenesis imperfecta and 22 were cases with hypodontia/oligodontia. The initial costs for the first oral rehabilitation (before the age of 20) had been covered by the Swiss Insurance for Disability. The costs for the initial rehabilitation of the 45 cases amounted to 407,584 CHF (39% for laboratory fees). Linear regression analyses for the initial treatment costs per replaced tooth revealed the formula 731 CHF+(811 CHF x units) on teeth and 3369 CHF+(1183 CHF x units) for reconstructions on implants (Phealthy teeth, fewer tooth units need to be replaced and the cumulative long-term costs seem to be similar compared with cases restored on teeth.

Maternal alcohol drinking pattern during pregnancy and the risk for an offspring with an isolated congenital heart defect and in particular a ventricular septal defect or an atrial septal defect

DEFF Research Database (Denmark)

Strandberg-Larsen, Katrine; Skov-Ettrup, Lise Skrubbeltrang; Grønbaek, Morten

2011-01-01

(VSD) or of an atrial septal defect (ASD). METHODS: Participants were 80,346 pregnant women who were enrolled into the Danish National Birth Cohort in 1996-2002 and gave birth to a live-born singleton without any chromosome anomalies. Twice during pregnancy these women were asked about their intake...... the early part of pregnancy was not statistical significantly associated with the prevalence of isolated VSD and ASD in offspring. Birth Defects Research (Part A), 2011. © 2011 Wiley-Liss, Inc....

Global Burden of Neural Tube Defects, Risk Factors, and Prevention

Directory of Open Access Journals (Sweden)

Joseph E

2014-11-01

Full Text Available Neural tube defects (NTDs, serious birth defects of the brain and spine usually resulting in death or paralysis, affect an estimated 300,000 births each year worldwide. Although the majority of NTDs are preventable with adequate folic acid consumption during the preconception period and throughout the first few weeks of gestation, many populations, in particular those in low and middle resource settings, do not have access to fortified foods or vitamin supplements containing folic acid. Further, accurate birth defects surveillance data, which could help inform mandatory fortification and other NTD prevention initiatives, are lacking in many of these settings. The burden of birth defects in South East Asia is among the highest in the world. Expanding global neural tube defects prevention initiatives can support the achievement of the United Nations Millennium Development Goal 4 to reduce child mortality, a goal which many countries in South East Asia are currently not poised to reach, and the 63rd World Health Assembly Resolution on birth defects. More work is needed to develop and implement mandatory folic acid fortification policies, as well as supplementation programs in countries where the reach of fortification is limited.

Holt Oram syndrome : a registry-based study in Europe

NARCIS (Netherlands)

Barisic, Ingeborg; Boban, Ljubica; Greenlees, Ruth; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke E. H.; Braz, Paula; Budd, Judith L. S.; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; McDonnell, Bob; Nelen, Vera; Pierini, Anna; Queisser-Wahrendorf, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Dolk, Helen

2014-01-01

Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterised by upper limb anomalies and congenital heart defects. We present epidemiological and clinical aspects of HOS patients using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. Methods: The

Mother and child characteristics at birth and early age leukemia: a case-cohort population-based study.

Science.gov (United States)

Reis, Rejane de Souza; Silva, Neimar de Paula; Santos, Marceli de Oliveira; Oliveira, Julio Fernando Pinto; Thuler, Luiz Claudio Santos; de Camargo, Beatriz; Pombo-de-Oliveira, Maria S

The population-based cancer registries (PBCR) and the Information System on Live Births in Brazil (Sistema de Informações sobre Nascidos Vivos [SINASC]) have information that enables the test for risk factors associated with leukemia at an early age. The aim of this study was to identify maternal and birth characteristics associated with early-age acute leukemia (EAL) in Brazil. A case-cohort study was performed using secondary dataset information of PBCR and SINASC. The risk association variables were grouped into (i) characteristics of the child at birth and (ii) characteristics of maternal exposure during pregnancy. The case-control ratio was 1:4. Linkage was performed using R software; odds ratio (OR) and 95% confidence interval (CI) were calculated by logistic regression models. EAL was associated with maternal occupational exposure to chemicals (agricultural, chemical, and petrochemical industry; adjOR: 2.18, 95% CI: 1.16-4.10) and with birth defects (adjOR: 3.62, 95% CI: 1.19-11.00). The results of this study, with the identification of EAL risk factors in population-based case-cohort study, strengthen the knowledge and improve databases, contributing to investigations on risk factors associated with childhood leukemia worldwide. Copyright © 2017 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

Mother and child characteristics at birth and early age leukemia: a case-cohort population-based study,

Directory of Open Access Journals (Sweden)

Rejane de Souza Reis

Full Text Available Abstract Objective: The population-based cancer registries (PBCR and the Information System on Live Births in Brazil (Sistema de Informações sobre Nascidos Vivos [SINASC] have information that enables the test for risk factors associated with leukemia at an early age. The aim of this study was to identify maternal and birth characteristics associated with early-age acute leukemia (EAL in Brazil. Methods: A case-cohort study was performed using secondary dataset information of PBCR and SINASC. The risk association variables were grouped into (i characteristics of the child at birth and (ii characteristics of maternal exposure during pregnancy. The case-control ratio was 1:4. Linkage was performed using R software; odds ratio (OR and 95% confidence interval (CI were calculated by logistic regression models. Results: EAL was associated with maternal occupational exposure to chemicals (agricultural, chemical, and petrochemical industry; adjOR: 2.18, 95% CI: 1.16-4.10 and with birth defects (adjOR: 3.62, 95% CI: 1.19-11.00. Conclusions: The results of this study, with the identification of EAL risk factors in population-based case-cohort study, strengthen the knowledge and improve databases, contributing to investigations on risk factors associated with childhood leukemia worldwide.

How Suitable Are Registry Data for Recurrence Risk Calculations?

DEFF Research Database (Denmark)

Ellesøe, Sabrina Gade; Jensen, Anders Boeck; Ängquist, Lars Henrik

2016-01-01

if registry data are used indiscriminately. Here, we investigated the consequences of misclassifications for the RRR using validated diagnoses on Danish patients with familial CHD. METHODS: Danish citizens are assigned a civil registration number (CPR number) at birth or immigration, which acts as a unique...... of the PPVs of diagnoses in the Danish registries, and from this, we deduced the false discovery rate (FDR). To measure the consequences on the RRR, the FDR was applied to a simulated data set with true RRR values of 2 and 10. RESULTS: We validated diagnoses of 2,442 patients from 1,593 families. Of these...

Increasing Low Birth Weight Rates: Deliveries in a Tertiary Hospital in Istanbul

OpenAIRE

Berrin Telatar; Orhan Ünal; Abdülkadir Piçak; Lale Ger; Serdar Cömert; Cem Turan; Yasemin Akin

2010-01-01

Objective:Prevalence of low birth weight deliveries may vary across different environments. The necessity of determination of regional data prompted this study. Methods:Information of all deliveries from January 2004 to December 2008 was obtained from delivery registry records retrospectively. Initial data including birth weight, vital status, sex, maternal age and mode of delivery were recorded using medical files. The frequency of low birth weight, very low birth weight, extremely low birth...

Birthing Healthy Babies (A Cup of Health with CDC)

Centers for Disease Control (CDC) Podcasts

Every four and a half minutes a baby is born with a birth defect in the United States. That means nearly 120,000 babies, or about three percent of all babies born each year. In this podcast, Dr. Suzanne Gilboa discusses ways to prevent birth defects.

Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997.

Science.gov (United States)

Shaw, Gary M; Carmichael, Suzan L; Yang, Wei; Harris, John A; Finnell, Richard H; Lammer, Edward J

2005-08-15

There is a paucity of epidemiologic information about the eye malformations anophthalmia and microphthalmia. Using data from a large population-based registry, we explored prevalences and maternal/infant characteristics associated with anophthalmia and bilateral microphthalmia. Data were derived from the California Birth Defects Monitoring Program, a population-based active surveillance system for collecting information on infants and fetuses with congenital malformations using multiple source ascertainment. Approximately 2.5 million births (liveborn and stillborn) occurred during the ascertainment period, 1989-1997. Information on maternal and infant/fetal characteristics was obtained from California birth certificate and fetal death files. The prevalence per 10,000 livebirths and stillbirths for anophthalmia was 0.18 and for bilateral microphthalmia was 0.22. These estimates reflect prevalences among births without chromosomal anomalies. Relative risks of anophthalmia were modestly higher among women aged 40 or more (relative risk = 2.0, 95% confidence interval 0.5-8.6). Risks were substantially lower for those mothers with >12 years of education, even after adjusting for other study factors, relative risk = 0.6 (0.2-1.7). The risk of anophthalmia was approximately twofold among multiple births compared to singletons. Similar to results for anophthalmia, decreased risks for bilateral microphthalmia were observed for maternal education of 12 years or more and increased risks observed for multiple births. These data show descriptive epidemiologic features of anophthalmia and bilateral microphthalmia. Copyright 2005 Wiley-Liss, Inc.

Bladder Exstrophy: An Epidemiologic Study From the International Clearinghouse for Birth Defects Surveillance and Research, and an Overview of the Literature

Science.gov (United States)

SIFFEL, CSABA; CORREA, ADOLFO; AMAR, EMMANUELLE; BAKKER, MARIAN K.; BERMEJO-SÁNCHEZ, EVA; BIANCA, SEBASTIANO; CASTILLA, EDUARDO E.; CLEMENTI, MAURIZIO; COCCHI, GUIDO; CSÁKY-SZUNYOGH, MELINDA; FELDKAMP, MARCIA L.; LANDAU, DANIELLE; LEONCINI, EMANUELE; LI, ZHU; LOWRY, R. BRIAN; MARENGO, LISA K.; MASTROIACOVO, PIERPAOLO; MORGAN, MARGERY; MUTCHINICK, OSVALDO M.; PIERINI, ANNA; RISSMANN, ANKE; RITVANEN, ANNUKKA; SCARANO, GIOACCHINO; SZABOVA, ELENA; OLNEY, RICHARD S.

2015-01-01

Bladder exstrophy (BE) is a complex congenital anomaly characterized by a defect in the closure of the lower abdominal wall and bladder. We aimed to provide an overview of the literature and conduct an epidemiologic study to describe the prevalence, and maternal and case characteristics of BE. We used data from 22 participating member programs of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). All cases were reviewed and classified as isolated, syndrome, and multiple congenital anomalies. We estimated the total prevalence of BE and calculated the frequency and odds ratios for various maternal and case characteristics. A total of 546 cases with BE were identified among 26,355,094 births. The total prevalence of BE was 2.07 per 100,000 births (95% CI: 1.90–2.25) and varied between 0.52 and 4.63 among surveillance programs participating in the study. BE was nearly twice as common among male as among female cases. The proportion of isolated cases was 71%. Prevalence appeared to increase with increasing categories of maternal age, particularly among isolated cases. The total prevalence of BE showed some variations by geographical region, which is most likely attributable to differences in registration of cases. The higher total prevalence among male cases and older mothers, especially among isolated cases, warrants further attention. PMID:22002949

The Danish Medical Birth Register

DEFF Research Database (Denmark)

Bliddal, Mette; Broe, Anne; Pottegård, Anton

2018-01-01

The Danish Medical Birth Register was established in 1973. It is a key component of the Danish health information system. The register enables monitoring of the health of pregnant women and their offspring, it provides data for quality assessment of the perinatal care in Denmark, and it is used...... on all births in Denmark and comprises primarily of data from the Danish National Patient Registry supplemented with forms on home deliveries and stillbirths. It contains information on maternal age provided by the Civil Registration System. Information on pre-pregnancy body mass index and smoking...

Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin.

Science.gov (United States)

Happle, R

1987-04-01

A genetic concept is advanced to explain the origin of several sporadic syndromes characterized by a mosaic distribution of skin defects. It is postulated that these disorders are due to the action of a lethal gene surviving by mosaicism. The presence of the mutation in the zygote will lead to death of the embryo at an early stage of development. Cells bearing the mutation can survive only in a mosaic state, in close proximity with normal cells. The mosaic may arise either from a gametic half chromatid mutation or from an early somatic mutation. This concept of origin is proposed to apply to the Schimmelpenning-Feuerstein-Mims syndrome, the McCune-Albright syndrome, the Klippel-Trenaunay syndrome, the Sturge-Weber syndrome, and neurocutaneous melanosis. Moreover, this etiologic hypothesis may apply to two other birth defects that have recently been delineated, the Proteus syndrome (partial gigantism of hands or feet, hemihypertrophy, macrocephaly, linear papillomatous epidermal nevus, subcutaneous hemangiomas and lipomas, accelerated growth, and visceral anomalies), and the Delleman-Oorthuys syndrome (orbital cyst, porencephaly, periorbital appendages, and focal aplasia of the skin.

Birth Defects Associated with Perturbations in Pre-implantation, Gastrulation & Axis Extension: from Conjoined Twinning to Caudal Dysgenesis

Science.gov (United States)

Ferrer-Vaquer, Anna; Hadjantonakis, Anna-Katerina

2012-01-01

Congenital malformations represent approximately 3 in 100 live births within the human population. Understanding their pathogenesis and ultimately formulating effective treatments is underpinned by knowledge of the events and factors that regulate normal embryonic development. Studies in model organisms, primarily in the mouse, the most prominent genetically tractable mammalian model, have equipped us with a rudimentary understanding of mammalian development from early lineage commitment to morphogenetic processes. In this way information provided by studies in the mouse can, in some cases, be used to draw parallels with other mammals, including human. Here we provide an overview of our current understanding of the general sequence of developmental events from early cell cleavages to gastrulation and axis extension occurring in human embryos. We will also review some of the rare birth defects occurring at these stages, in particular those resulting in conjoined twinning or caudal dysgenesis. PMID:24014416

Central Nervous System Birth Defects in Surgically Treated Infants in Sarajevo Region of Bosnia and Herzegovina

Directory of Open Access Journals (Sweden)

Selma Aličelebić

2007-11-01

Full Text Available Congenital anomalies of the central nervous system (CNS are common. The prevalence of these anomalies shows considerable geographical variation and female predominance. The aim of this work was to obtain the frequency of different CNS congenital anomalies types and their sex distribution among cases hospitalized in a Department of Neurosurgery, University of Sarajevo Clinics Center, Bosnia and Herzegovina, during the period January 2001 to December 2004. Retrospective study was carried out on the basis of the clinical records. Standard methods of descriptive statistics were performed for the data analysis. A total of 103 cases were surgically treated in the period from 2001 through 2004. Out of that number 56 (54,4% were female patients, while 47 (46,6% were male patients. Seven different CNS birth defect types were found in this investigation. These were: spina bifida (42 cases or 40,78%, congenital hydrocephalus (35 cases or 33,98%, arachnoid cyst (15 cases or 14,56%, Dandy-Walker syndrome (5 cases or 4,85%, dermoid cyst (4 cases or 3,88%, one of Arnold-Chiari syndrome (0,98% and one of encefalocele (0,98%. According to this investigation, CNS congenital birth defects were slightly higher in females (54,4%. The most frequent types were spina bifida (40,78% both in females (22,33% and in males (18,45%, hydrocephalus (33,98% and arachnoid cyst (14,56%. The anomalies of the other organ systems, associated with CNS anomalies obtained in this investigation, were pes equinovarus, cheiloshisis, cardiomegalia and palatoshisis. They were found in six cases (5,82%, equal in both sexes.

Genetic Mutations, Birth Lengths, Weights and Head Circumferences of Children with IGF-I Receptor Defects. Comparison with other Congenital Defects in the GH/IGF-I axis.

Science.gov (United States)

Essakow, Jenna Lee; Lauterpacht, Aharon; Lilos, Pearl; Kauli, Rivka; Laron, Zvi

2016-09-01

In recent years more and more genetic defects along the GHRH-GH-IGF-I axis have been reported. Mutations of the IGF-I receptor (R) are a rare abnormality of whom only the heterozygote progenies survive. To summarize, from the literature, data on birth length, weight and head circumference of neonates with IGF-I-R mutations, and to correlate the data with that of other types of mutations in the GH/IGF-I axis. Sixty seven neonates from 24 published articles were included and forty seven different mutations of the IGF-I (R) located on chromosome 15 have been identified. Mean (±SD) birth length (BL), available for 26, (10 M, 16F) neonates with a gestational age of 34-41weeks, was 44.2±4cm; one was premature (30cm at 31 weeks). There was a significant correlation between birth length and gestational age (GA) r=0.71 (p>.001). Mean birth weight (BW) of 41 neonates (18M, 23F) was 2388±743gr. Two premature neonates weighed 650gr and 950gr respectively. The BW correlated significantly with gestational age, (males: r=0.68; p=0.007, females: r=0.49; p=0.024). The BMI of 25 neonates ranged from 6 to 13. In 22 records marked microcephaly was ascertained or stated. Nine of 16 mothers were short (133 -148cm), m±SD = 150.5±7.3cm. Copyright© of YS Medical Media ltd.

Evaluation of LexisNexis Batch Solutions in the New York State Cancer Registry

OpenAIRE

Pradhan, Eva; Boscoe, Francis P.

2014-01-01

Using Lexis Nexis Batch Solutions, the New York State Cancer Registry was able to identify substantial numbers of missing addresses, birth dates, and social security numbers, for persons diagnosed as far back as 1976.

Artefactual increasing frequency of omphaloceles in the northern Netherlands : lessons for systematic analysis of apparent epidemics

NARCIS (Netherlands)

Reefhuis, J; de Walle, HEK; Cornel, MC

Background While monitoring birth defects in a registry, statistically significant increases in prevalence occasionally occur. In the European Registration Of Congenital Anomalies (EUROCAT) in the Northern Netherlands 20 000 births are monitored every year. For omphaloceles, a steady increase in the

The Civil Registry of Children Born of Surrogacy Pregnancy: An Investigation Based on Recent Spain Supreme Court Judgments

Directory of Open Access Journals (Sweden)

Anna Cristina de Carvalho Rettore

2016-10-01

Full Text Available In foreign law, there has been intense debates concerning civil registry of children born of surrogacy pregnancy, when such birth disrespects the country’s norms. Thus, based on the analysis of recent Spain Supreme Court judgments – that is, through a juridical-comparative investigation, using primary and secondary sources –, and considering that although Brazil lacks an express federal law about the issue, a Resolution of the Federal Counsel of Medicine establishing parameters is being generally applied, the paper aims to answer whether or not Brazilian registry should be facilitated for births (demonstrated as not uncommon that disregard such parameters.

Birth weight and other perinatal characteristics and childhood leukemia in California.

Science.gov (United States)

Oksuzyan, S; Crespi, C M; Cockburn, M; Mezei, G; Kheifets, L

2012-12-01

We conducted a large registry-based study in California to investigate the association of perinatal factors and childhood leukemia with analysis of two major subtypes, acute lymphocytic leukemia (ALL) and acute myeloid leukemia (AML). We linked California cancer and birth registries to obtain information on 5788 cases and 5788 controls matched on age and sex (1:1). We examined the association of birth weight, gestational age, birth and pregnancy order, parental ages, and specific conditions during pregnancy and risk of total leukemia, ALL and AML using conditional logistic regression, with adjustment for potential confounders. The odds ratio (OR) per 1000 g increase in birth weight was 1.11 for both total leukemia and ALL. The OR were highest for babies weighing ≥ 4500 g with reference birth weight and LGA were associated with increased risk and SGA with decreased risk of total childhood leukemia and ALL, being first-born was associated with decreased risk of AML, and advanced paternal age was associated with increased risk of ALL. These findings suggest that associations of childhood leukemia and perinatal factors depend highly on subtype of leukemia. Copyright © 2012 Elsevier Ltd. All rights reserved.

Birthing Healthy Babies (A Cup of Health with CDC)

Centers for Disease Control (CDC) Podcasts

2018-01-11

Every four and a half minutes a baby is born with a birth defect in the United States. That means nearly 120,000 babies, or about three percent of all babies born each year. In this podcast, Dr. Suzanne Gilboa discusses ways to prevent birth defects.  Created: 1/11/2018 by MMWR.   Date Released: 1/11/2018.

Epidemiology of multiple congenital anomalies in Europe: A EUROCAT population-based registry study

DEFF Research Database (Denmark)

Calzolari, Elisa; Barisic, Ingeborg; Loane, Maria

2014-01-01

BACKGROUND: This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population-based European registries (EUROCAT) covering 959,446 births in 2004 and 2010. METHODS: EUROCAT implemented a computer algorithm f...

Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies

DEFF Research Database (Denmark)

Loane, Maria; Dolk, Helen; Garne, Ester

2011-01-01

The European Surveillance of Congenital Anomalies (EUROCAT) network of population-based congenital anomaly registries is an important source of epidemiologic information on congenital anomalies in Europe covering live births, fetal deaths from 20 weeks gestation, and terminations of pregnancy for...

Navajo birth outcomes in the Shiprock uranium mining area

International Nuclear Information System (INIS)

Shields, L.M.; Wiese, W.H.; Skipper, B.J.; Charley, B.; Benally, L.

1992-01-01

The role of environmental radiation in the etiology of birth defects, stillbirths, and other adverse outcomes of pregnancy was evaluated for 13,329 Navajos born at the Public Health Service/Indian Health Service Hospital in the Shiprock, NM, uranium mining area (1964-1981). More than 320 kinds of defective congenital conditions were abstracted from hospital records. Using a nested case-control design, families of 266 pairs of index and control births were interviewed. The only statistically significant association between uranium operations and unfavorable birth outcome was identified with the mother living near tailings or mine dumps. Among the fathers who worked in the mines, those of the index cases had histories of more years of work exposure but not necessarily greater gonadal dosage of radiation. Also, birth defects increased significantly when either parent worked in the Shiprock electronics assembly plant. Overall, the associations between adverse pregnancy outcome and exposure to radiation were weak and must be interpreted with caution with respect to implying a biogenetic basis

Evaluation of risk factors associated with congenital malformations in the surveillance program of birth defects based on the methodology ECLAMC in Bogotá during the period 2001 to 2010

OpenAIRE

Zarate, Ana María; Pontificia Universidad Javeriana; García, Gloria; Secretaría Distrital de Salud; Zarante, Ignacio; Pontificia Universidad Javeriana

2016-01-01

Introduction: Birth defects are a cause of morbidity and mortality in our country, so the Institute of Human Genetics and the Health Secretary of Bogotá developed a surveillance program based on the methodology of the Latin American Collaborative Study of Congenital Malformations (ECLAMC).Methods: We collected data on births monitored in the case-control and monitor modes. Maternal and newborn risk factors were evaluated.Results: 121,674 births were monitored, 1,81% had congenital malformatio...

Gastroschisis and associated defects: an international study.

LENUS (Irish Health Repository)

Mastroiacovo, Pierpaolo

2007-04-01

Our objective was to evaluate the frequency and type of malformations associated with gastroschisis in a large pool of international data, to identify malformation patterns, and to evaluate the role of maternal age in non-isolated cases. Case-by-case information from 24 registries, all members of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), were evaluated. After the exclusion of other abdominal wall defects cases were classified as: (a) isolated; (b) recognizable syndrome, chromosomal or not; (c) multiple congenital anomalies (MCA). Our results showed that out of 3,322 total cases 469 non-isolated cases were registered (14.1%): 41 chromosomal syndromes, 24 other syndromes, and 404 MCA. Among MCA four groups of anomalies were most frequent: CNS (4.5%), cardio-vascular (2.5%), limb (2.2%), and kidney anomalies (1.9%). No similar patterns emerged except two patterns resembling limb-body wall complex and OEIS. In both of them the gastroschisis could be however misclassified. Chromosomal trisomies and possibly non-syndromic MCA are associated with an older maternal age more than isolated cases. On consideration of our data and the most valid studies published in the literature, the best estimate of the proportion of gastroschisis associated with major unrelated defects is about 10%, with a few cases associated to recognizable syndromes. Recognized syndromes with gastroschisis seem to be so exceptional that the well documented and validated cases are worth being published as interesting case report. An appropriate case definition in etiological studies should include only isolated gastroschisis after an appropriate definition of isolated and non-isolated cases and a thorough case-by-case review.

Risk factors for premature birth in French Guiana: the importance of reducing health inequalities.

Science.gov (United States)

Leneuve-Dorilas, Malika; Favre, Anne; Carles, Gabriel; Louis, Alphonse; Nacher, Mathieu

2017-11-27

French Guiana has the highest birth rate in South America. This French territory also has the highest premature birth rate and perinatal mortality rate of all French territories. The objective was to determine the premature birth rate and to identify the prevalence of risk factors of premature birth in French Guiana. A retrospective study of all births in French Guiana was conducted between January 2013 and December 2014 using the computerized registry compiling all live births over 22 weeks of gestation on the territory. During this period 12 983 live births were reported on the territory. 13.5% of newborns were born before 37 (1755/12 983). The study of the registry revealed that common sociodemographic risk factors of prematurity were present. In addition, past obstetrical history was also important: a scarred uterus increased the risk of prematurity adjusted odds ratio =1.4, 95%CI (1.2-1.6). Similarly, obstetrical surveillance, the absence of preparation for birth or of prenatal interview increased the risk of prematurity by 2.4 and 2.3, the excess fraction in the population was 69% and 72.2%, respectively. Known classical risk factors are important. In the present study excess fractions were calculated in order to prioritize interventions to reduce the prematurity rate.

Physical inactivity affects skeletal muscle insulin signaling in a birth weight-dependent manner

DEFF Research Database (Denmark)

Mortensen, Brynjulf; Friedrichsen, Martin; Andersen, Nicoline Resen

2014-01-01

We investigated whether physical inactivity could unmask defects in insulin and AMPK signaling in low birth weight (LBW) subjects.......We investigated whether physical inactivity could unmask defects in insulin and AMPK signaling in low birth weight (LBW) subjects....

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

LENUS (Irish Health Repository)

Barisic, Ingeborg

2014-01-08

Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990-2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340\\/355) live born, 0.8% (3\\/355) fetal deaths, 3.4% (12\\/355) terminations of pregnancy for fetal anomaly and 1.5% (5\\/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly\\/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia\\/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs\\/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia\\/ear anomalies and at least one major characteristic anomaly, was 3.8 per 100 000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder.European Journal of Human Genetics advance online publication, 8 January 2014; doi:10.1038\\/ejhg.2013.287.

Amelia: A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature

Science.gov (United States)

BERMEJO-SÁNCHEZ, EVA; CUEVAS, LOURDES; AMAR, EMMANUELLE; BAKKER, MARIAN K.; BIANCA, SEBASTIANO; BIANCHI, FABRIZIO; CANFIELD, MARK A.; CASTILLA, EDUARDO E.; CLEMENTI, MAURIZIO; COCCHI, GUIDO; FELDKAMP, MARCIA L.; LANDAU, DANIELLE; LEONCINI, EMANUELE; LI, ZHU; LOWRY, R. BRIAN; MASTROIACOVO, PIERPAOLO; MUTCHINICK, OSVALDO M.; RISSMANN, ANKE; RITVANEN, ANNUKKA; SCARANO, GIOACCHINO; SIFFEL, CSABA; SZABOVA, ELENA; MARTÍNEZ-FRÍAS, MARÍA-LUISA

2015-01-01

This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26–1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly. PMID:22002956

Lower Birth Weight and Diet in Taiwanese Girls More than Boys Predicts Learning Impediments

Science.gov (United States)

Lee, Meei-Shyuan; Huang, Lin-Yuan; Chang, Yu-Hung; Huang, Susana Tzy-Ying; Yu, Hsiao-Li; Wahlqvist, Mark L.

2012-01-01

Possible links between lower birth weight, childhood diet, and learning in Taiwan are evaluated. The population representative Elementary School Children's Nutrition and Health Survey in Taiwan 2001-2002 and the national birth registry were used to examine school and social performance using the modified Scale for Assessing Emotional Disturbance…

Birth characteristics and Wilms tumors in children in the Nordic countries: a register-based case-control study.

Science.gov (United States)

Schüz, Joachim; Schmidt, Lisbeth Samsø; Kogner, Per; Lähteenmäki, Päivi M; Pal, Niklas; Stokland, Tore; Schmiegelow, Kjeld

2011-05-01

Little is known about causes of Wilms tumor. Because of the young age at diagnosis, several studies have looked at various birth characteristics. We conducted a registry-based case-control study involving 690 cases of Wilms tumor aged 0-14 years, occurring in Denmark, Finland, Norway or Sweden during 1985-2006, individually matched to five controls drawn randomly from the Nordic childhood population. Information on birth characteristics was obtained from the population-based medical birth registries. We estimated odds ratios (ORs) and 95% confidence intervals (CIs) using conditional logistic regression analysis. We observed a distinct association between Wilms tumor and high birth weight (≥4 kg) for girls (OR 1.97, CI 1.50-2.59) but not for boys (1.04, 0.78-1.38); overall, the OR was 1.43 (1.17-1.74). Among girls, risk increased by 28% (15-42%) per 500 g increase in birth weight. Large-for-gestational age girls also had a higher risk (2.48, 1.51-4.05), whereas no effect was seen for boys (1.12, 0.60-2.07). An association was seen with Apgar score at 5 min birth order. In our large-scale, registry-based study, we confirmed earlier observations of an association between high birth weight and risk of Wilms tumor, but we found an effect only in girls. The higher risk of infants with low Apgar score might reflect hypoxia causing cell damage, adverse side effects of neonatal treatment or reverse causation as low Apgar score might indicate the presence of a tumor. Copyright © 2010 UICC.

The prevalence at birth of congenital malformations in the city of Ozyorsk located near the nuclear complex Mayak production association

Energy Technology Data Exchange (ETDEWEB)

Petrushkina, N. P.; Koshurnikova, N. A.; Okatenko, P. V.

2004-07-01

For many years possible genetic effects of exposure to ionizing radiation have been a subject of interest and concern, but data from studies of the risk of radiation-induced hereditary effects in humans are limited. the most extensive human studies of genetic effects were those conducted on the Japanese. A-bomb survivors. In These studies in investigators examined the association of various levels of radiation exposure and several different endpoints, including major congenital defects, stillbirth, death during the first week of life, survivals, and sex ratio and Down's syndrome (8, (14-16). Although associations of these outcomes with radiation exposure were in the positive direction, none were close to statistical significance. Only teratogenic effects of in utero exposure at Hiroshima and Nagasaki, microcephaly and mental retardation, have been observed (8, (10, 16)). Of most interest is possible association of congenital malformations (CMs) with parental occupational radiation exposure. Determination of the role of parental occupational exposure in induction of CMs in children is necessary to evaluate reliability of radiation protection standards Epidemiological studies conducted on the basis of Registries of children who were born in regions located near a nuclear complex may be useful for such evaluation. It is preferable to carry out such studies on the basis of population registries, since long follow-up in large populations allows to reveal increased frequency of even very rare forms of congenital abnormalities. In a case-control study of association of parental occupational exposure due to Hanford Nuclear Site and risk of CMs in their offspring there was no evidence of such an association (12, 13). Our investigation is conducted on the basis of the basis of the Registry of children of Ozyorsk. The whole Registry includes all children with 1948-1988 birth years show were born or-came to town at the age of 0-14 years, and were residents of these towns

The prevalence at birth of congenital malformations in the city of Ozyorsk located near the nuclear complex Mayak production association

International Nuclear Information System (INIS)

Petrushkina, N. P.; Koshurnikova, N. A.; Okatenko, P. V.

2004-01-01

For many years possible genetic effects of exposure to ionizing radiation have been a subject of interest and concern, but data from studies of the risk of radiation-induced hereditary effects in humans are limited. the most extensive human studies of genetic effects were those conducted on the Japanese. A-bomb survivors. In These studies in investigators examined the association of various levels of radiation exposure and several different endpoints, including major congenital defects, stillbirth, death during the first week of life, survivals, and sex ratio and Down's syndrome (8, (14-16). Although associations of these outcomes with radiation exposure were in the positive direction, none were close to statistical significance. Only teratogenic effects of in utero exposure at Hiroshima and Nagasaki, microcephaly and mental retardation, have been observed (8, (10, 16)). Of most interest is possible association of congenital malformations (CMs) with parental occupational radiation exposure. Determination of the role of parental occupational exposure in induction of CMs in children is necessary to evaluate reliability of radiation protection standards Epidemiological studies conducted on the basis of Registries of children who were born in regions located near a nuclear complex may be useful for such evaluation. It is preferable to carry out such studies on the basis of population registries, since long follow-up in large populations allows to reveal increased frequency of even very rare forms of congenital abnormalities. In a case-control study of association of parental occupational exposure due to Hanford Nuclear Site and risk of CMs in their offspring there was no evidence of such an association (12, 13). Our investigation is conducted on the basis of the basis of the Registry of children of Ozyorsk. The whole Registry includes all children with 1948-1988 birth years show were born or-came to town at the age of 0-14 years, and were residents of these towns one

Brothers and reduction of the birth weight of later-born siblings

DEFF Research Database (Denmark)

Nielsen, Henriette Svarre; Mortensen, Laust; Nygaard, Ulrikka

2008-01-01

It has been speculated whether maternal immune responses against male-specific minor histocompatibility (H-Y) antigens affect pregnancies negatively. This study explores, on a population level, whether previous births of boys compared with girls are associated with a decrease in birth weight...... of later-born siblings. The population was identified in the Danish Birth Registry and consisted of all Danish women who gave birth to their first-born singleton from 1980 to 1998. The women were followed until 2004, and their subsequent births were recorded. A total of 545,839 second- to fourth......-born children were identified. The authors used linear regression to analyze the association between sex of preceding children and birth weight of subsequent siblings. Brothers compared with sisters reduced the birth weight of later-born siblings. One or two brothers, respectively, reduced the mean birth weight...

Live birth and adverse birth outcomes in women with ulcerative colitis and Crohn's disease receiving assisted reproduction

DEFF Research Database (Denmark)

Nørgård, Bente Mertz; Larsen, P V; Fedder, J

2016-01-01

, the OR of preterm birth was 5.29 (95% CI 2.41 to 11.63) in analyses including singletons and multiple births; restricted to singletons the OR was 1.80, 95% CI 0.49 to 6.62. CONCLUSIONS: Our results suggest that women with UC and CD receiving ART treatments cannot expect the same success for each embryo transfer......OBJECTIVE: To examine the chance of live births and adverse birth outcomes in women with ulcerative colitis (UC) and Crohn's disease (CD) compared with women without inflammatory bowel disease (IBD) who have undergone assisted reproductive technology (ART) treatments. METHODS: This was a nationwide...... cohort study based on Danish health registries, comprising all women with an embryo transfer during 1 January 1994 through 2013. The cohorts comprised 1360 ART treatments in 432 women with UC, 554 ART treatments in 182 women with CD and 148 540 treatments in 52 489 women without IBD. Our primary outcome...

Birth characteristics and Wilms tumors in children in the Nordic countries

DEFF Research Database (Denmark)

Schüz, Joachim; Schmidt, Lisbeth Samsø; Kogner, Per

2011-01-01

during 1985-2006, individually matched to five controls drawn randomly from the Nordic childhood population. Information on birth characteristics was obtained from the population-based medical birth registries. We estimated odds ratios (ORs) and 95% confidence intervals (CIs) using conditional logistic......-based study, we confirmed earlier observations of an association between high birth weight and risk of Wilms tumor, but we found an effect only in girls. The higher risk of infants with low Apgar score might reflect hypoxia causing cell damage, adverse side effects of neonatal treatment or reverse causation...

The Mid-Atlantic Twin Registry, revisited.

Science.gov (United States)

Lilley, Emily C H; Silberg, Judy L

2013-02-01

The Mid-Atlantic Twin Registry (MATR) is a population-based registry of more than 56,000 twins primarily born or living in Virginia, North Carolina, and South Carolina. The MATR employs several methods of ascertaining twins, and devotes considerable resources to tracking and maintaining communication with MATR participants. Researchers may utilize the MATR for administration of research services including study recruitment, collection of DNA, archival data set creation, as well as data collection through mailed, phone, or online surveys. In addition, the MATR houses the MATR Repository, with over 1,200 blood samples available for researchers interested in DNA genotyping. For over 35 years MATR twins have participated in research studies with investigators from diverse scientific disciplines and various institutions. These studies, which have resulted in numerous publications, have covered a range of topics, including the human microbiome, developmental psychopathology, depression, anxiety, substance use, epigenetics of aging, children of twins, pre-term birth, social attitudes, seizures, eating disorders, as well as sleep homeostasis. Researchers interested in utilizing twins are encouraged to contact the MATR to discuss potential research opportunities.

Prevention of birth defects in the pre-conception period: knowledge and practice of health care professionals (nurses and doctors in a city of Southern Brazil

Directory of Open Access Journals (Sweden)

Flávia Romariz Ferreira

2015-10-01

Full Text Available Background: Some congenital defects can be prevented in the pregestational stage. However, many health professionals are not prepared to provide counselling to couples regarding the same. Objective: This study aimed to assess the performance of doctors and nurses from a primary health-care unit in Florianopolis, Brazil, in preventing birth defects in the preconception period based on the recommendations of the Control Center of Disease Prevention. Materials and Methods: This descriptive cross sectional study was performed at a tertiary referral center. In this study, a semi-structured questionnaire was provided to 160 health professionals comprising doctors and nurses who were actively involved in providing primary health care in family health programs. The non-parametric Chi-square (χ2 test was used to analyse the data obtained through multiple choice questions. Results: Our results showed that although 81.9% of health professionals provided health-care assistance based on protocols, and only 46.2% professionals were aware of the presence of the topic in the protocol. Of the recommendations provided by the Control Center of Disease Prevention, the use of folic acid was the most prescribed. However, this prescription was not statistically different between nurses and doctors (P=0.85. Conclusion: This study identified the fragile nature in these professional’s knowledge about the prevention of birth defects in pre-conception period, as evidenced by the inconsistency in their responses.

Mortalidad por defectos al nacimiento en menores de 5 años de edad en México de 1998 a 2006 Birth defects mortality in five-year-old minors of age, Mexico, 1998-2006

Directory of Open Access Journals (Sweden)

Javier Valdés-Hernández

2009-10-01

Full Text Available OBJETIVOS: Analizar la mortalidad por defectos al nacimiento (DAN entre 1998 y 2006. Seleccionar los municipios con alta mortalidad en OBJECTIVE: To analyze mortality due to birth defects from 1998-2006. To select municipalities with high mortality among children under 5 years of age. MATERIAL AND METHODS: The source of information was mortality records from vital statistics collected by SSA/INEGI. We used the 2005 Municipal Geostatistical Framework by INEGI and SIGEPI for the spatial analysis. The selection criteria were municipalities with 80% and over of deaths due to birth defects. RESULTS: Deaths diminished 8% during 1998-2006 and rates decreased 20%. A total of 42.57% - 48% of deaths are due to circulatory system defects and 13.69% - 19.39% are due to the nervous system; the former rose 4% and the latter fell 32%. Eighty percent or more occur in children under 5 years and the rate in this group fell 8.63%. A total of 1 025 (41.82% municipalities are priorities, 104 (10.14% are high and 102 (9.95% are very high priorities, where 66% of deaths occur among children under 5 years old. DISCUSSION: The interventions to decrease mortality due to birth defects should be directed towards one-year-old children (75% and towards 8.4% of the municipalities that are a very high priority, since they represent 66% of the deaths.

Trends in birth weight-specific and -adjusted infant mortality rates in Taiwan between 2004 and 2011.

Science.gov (United States)

Liang, Fu-Wen; Chou, Hung-Chieh; Chiou, Shu-Ti; Chen, Li-Hua; Wu, Mei-Hwan; Lue, Hung-Chi; Chiang, Tung-Liang; Lu, Tsung-Hsueh

2018-06-01

A yearly increase in the proportion of very low birth weight (VLBW) live births has resulted in the slowdown of decreasing trends in crude infant mortality rates (IMRs). In this study, we examined the trends in birth weight-specific as well as birth weight-adjusted IMRs in Taiwan. We linked three nationwide datasets, namely the National Birth Reporting Database, National Birth Certification Registry, and National Death Certification Registry databases, to calculate the IMRs according to the birth weight category. Trend tests and mortality rate ratios in the periods 2010-2011 and 2004-2005 were used to examine the extent of reduction in birth weight-specific and birth weight-adjusted IMRs. The proportion of VLBW (births increased from 0.78% in 2004-2005 to 0.89% in 2010-2011, thus exhibiting a 15% increase. The extents of the decreases in birth weight-specific IMRs in the 500-999, 1000-1499, 1500-1999, 2000-2499, and 2500-2999 g birth weight categories were 15%, 33%, 43%, 30%, and 28%, respectively, from 2004-2005 to 2010-2011. The reduction in IMR in each birth weight category was larger than the reduction in the crude IMR (13%). By contrast, the IMR in the birth weight category exhibited a 56% increase during the study period. The IMRs were calculated by excluding all live births with a birth weight of birth weight-adjusted IMRs, which were calculated using a standard birth weight distribution structure for adjustment, exhibited similar extent reductions. In countries with an increasing proportion of VLBW live births, birth weight-specific or -adjusted IMRs are more appropriate than other indices for accurately assessing the real extent of reduction in IMRs. Copyright © 2017. Published by Elsevier B.V.

Advanced molecular and cytogenetic technologies in birth defect diagnosis and prevention%分子和细胞遗传学新技术在出生缺陷诊断及防治中的应用

Institute of Scientific and Technical Information of China (English)

Marilyn M. LI

2005-01-01

SUMMARY Fluorescence in situ hybridization (FISH) has become an important diagnostic tool as an adjunct to classical cytogenetics. FISH utilizes DNA probes comprised of specific nucleic acid sequences tagged with fluorescent molecules to identify the number and location of specific DNA sequences in human cells. These probes can be used to determine various numerical and structural chromosomal aberrations, in many cases, gene dosage and/or structure alterations. Chromosomal abnormalities are responsible for a considerable number of birth defects, and more than 50% of spontaneous abortions. These numbers have been significantly higher since the advent of FISH technology that allows the detection of submicroscopic chromosome alterations. The clinic application of FISH technology in postnatal, prenatal, and preimplantation diagnoses has been playing an important role in the diagnosis and prevention of birth defects. As new technologies evolve, more and more new FISH techniques - such as subtelomeric FISH, multicolor FISH (M-FISH), comparative genomic hybridization (CGH), and microarray - are used in clinical diagnoses, the role of FISH technology in both research and clinical aspects of birth defects will surely continue to expand.

Preterm Birth and Adult Wealth: Mathematics Skills Count.

Science.gov (United States)

Basten, Maartje; Jaekel, Julia; Johnson, Samantha; Gilmore, Camilla; Wolke, Dieter

2015-10-01

Each year, 15 million babies worldwide are born preterm. Preterm birth is associated with adverse neurodevelopmental outcomes across the life span. Recent registry-based studies suggest that preterm birth is associated with decreased wealth in adulthood, but the mediating mechanisms are unknown. This study investigated whether the relationship between preterm birth and low adult wealth is mediated by poor academic abilities and educational qualifications. Participants were members of two British population-based birth cohorts born in 1958 and 1970, respectively. Results showed that preterm birth was associated with decreased wealth at 42 years of age. This association was mediated by decreased intelligence, reading, and, in particular, mathematics attainment in middle childhood, as well as decreased educational qualifications in young adulthood. Findings were similar in both cohorts, which suggests that these mechanisms may be time invariant. Special educational support in childhood may prevent preterm children from becoming less wealthy as adults. © The Author(s) 2015.

Iodide-trapping defect of the thyroid

International Nuclear Information System (INIS)

Pannall, P.R.; Steyn, A.F.; Van Reenen, O.

1978-01-01

We describe a grossly hypothyroid 50-year-old woman, mentally retarded since birth. On the basis of her history of recurrent goitre, absence of 131 I neck uptake and a low saliva/plasma 131 I ratio, congenital hypothyroidism due to a defect of the iodide-trapping mechanism was diagnosed. Other family members studied did not have the defect

Epidemiologic study of neural tube defects in Los Angeles County. I. Prevalence at birth based on multiple sources of case ascertainment

Energy Technology Data Exchange (ETDEWEB)

Sever, L.E. (Pacific Northwest Lab., Richland, WA); Sanders, M.; Monsen, R.

1982-01-01

Epidemiologic studies of the neural tube defects (NTDs), anencephalus and spina bifida, have for the most part been based on single sources of case ascertainment in past studies. The present investigation attempts total ascertainment of NTD cases in the newborn population of Los Angeles County residents for the period 1966 to 1972. Design of the study, sources of data, and estimates of prevalence rates based on single and multiple sources of case ascertainment are here discussed. Anencephalus cases totaled 448, spina bifida 442, and encephalocele 72, giving prevalence rates of 0.52, 0.51, and 0.08 per 1000 total births, respectively, for these neural tube defects - rates considered to be low. The Los Angeles County prevalence rates are compared with those of other recent North American studies and support is provided for earlier suggestions of low rates on the West Coast.

Association between month of birth and melanoma risk: fact or fiction?

Science.gov (United States)

Fiessler, Cornelia; Pfahlberg, Annette B; Keller, Andrea K; Radespiel-Tröger, Martin; Uter, Wolfgang; Gefeller, Olaf

2017-04-01

Evidence on the effect of ultraviolet radiation (UVR) exposure in infancy on melanoma risk in later life is scarce. Three recent studies suggest that people born in spring carry a higher melanoma risk. Our study aimed at verifying whether such a seasonal pattern of melanoma risk actually exists. Data from the population-based Cancer Registry Bavaria (CRB) on the birth months of 28 374 incident melanoma cases between 2002 and 2012 were analysed and compared with data from the Bavarian State Office for Statistics and Data Processing on the birth month distribution in the Bavarian population. Crude and adjusted analyses using negative binomial regression models were performed in the total study group and supplemented by several subgroup analyses. In the crude analysis, the birth months March-May were over-represented among melanoma cases. Negative binomial regression models adjusted only for sex and birth year revealed a seasonal association between melanoma risk and birth month with 13-21% higher relative incidence rates for March, April and May compared with the reference December. However, after additionally adjusting for the birth month distribution of the Bavarian population, these risk estimates decreased markedly and no association with the birth month was observed any more. Similar results emerged in all subgroup analyses. Our large registry-based study provides no evidence that people born in spring carry a higher risk for developing melanoma in later life and thus lends no support to the hypothesis of higher UVR susceptibility during the first months of life. © The Author 2016; all rights reserved. Published by Oxford University Press on behalf of the International Epidemiological Association

Birth characteristics and childhood carcinomas.

Science.gov (United States)

Johnson, K J; Carozza, S E; Chow, E J; Fox, E E; Horel, S; McLaughlin, C C; Mueller, B A; Puumala, S E; Reynolds, P; Von Behren, J; Spector, L G

2011-10-25

Carcinomas in children are rare and have not been well studied. We conducted a population-based case-control study and examined associations between birth characteristics and childhood carcinomas diagnosed from 28 days to 14 years during 1980-2004 using pooled data from five states (NY, WA, MN, TX, and CA) that linked their birth and cancer registries. The pooled data set contained 57,966 controls and 475 carcinoma cases, including 159 thyroid and 126 malignant melanoma cases. We used unconditional logistic regression to calculate odds ratios (ORs) and 95% confidence intervals (CIs). White compared with 'other' race was positively associated with melanoma (OR=3.22, 95% CI 1.33-8.33). Older maternal age increased the risk for melanoma (OR(per 5-year age increase)=1.20, 95% CI 1.00-1.44), whereas paternal age increased the risk for any carcinoma (OR=1.10(per 5-year age increase), 95% CI 1.01-1.20) and thyroid carcinoma (OR(per 5-year age increase)=1.16, 95% CI 1.01-1.33). Gestational age birth weight, and birth order were not significantly associated with childhood carcinomas. This exploratory study indicates that some birth characteristics including older parental age and low gestational age may be related to childhood carcinoma aetiology.

Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark.

Science.gov (United States)

Roos, Laura; Jensen, Hanne; Grønskov, Karen; Holst, René; Tümer, Zeynep

2016-10-01

This study aims to quantify the occurrence of the congenital eye malformations anophthalmia (AO), microphthalmia (MO) and coloboma among liveborn infants in Denmark, and to estimate the rate of chromosomal abnormalities in this group of patients. A cohort of patients born in 1995-2012 with diagnoses of MO/AO or coloboma was identified from the Danish National Patient Registry (DNPR), and their ocular and extra-ocular diagnoses were reviewed. In order to assess the occurrence of chromosomal abnormalities in the cohort, the data were cross-referenced with the Danish Cytogenetic Central Registry (DCCR). We identified 415 patients with MO/AO/coloboma in the DNPR. The total number of live births from 1995-2012 was 1,174,299, and the average birth prevalence of MO/AO/coloboma was 3.6/10,000 live births and of MO/AO was 1.2/10,000 live births. Extra-ocular abnormalities were observed in 32.1% of MO/AO cases and 21.7% of coloboma cases. Chromosome analysis was performed in 36.1% of the cohort, and 14.7% of cases had an abnormal karyotype. In 8.7% of the cohort, a chromosome microarray analysis was performed, and in 44.4% of cases, a possibly pathogenic copy number variation was observed. The birth prevalence of MO/AO/coloboma in Denmark has been steady at 3.6/10,000 live births during the last 17 years. The rate of syndromic cases was lower compared to other studies. A relatively high rate of pathogenic chromosomal aberrations was observed, suggesting an important role for cytogenetic analysis in this group of patients.

Birth outcome in women with ulcerative colitis and Crohn's disease, and pharmacoepidemiological aspects of anti-inflammatory drug therapy.

Science.gov (United States)

Nørgård, Bente Mertz

2011-12-01

The clinical epidemiological studies included in this thesis fall into three parts. The first part includes studies on birth outcome in women with ulcerative colitis. The second part includes pharmacoepidemiological studies on birth outcome after anti-inflammatory drug therapy in pregnancy, including patients with ulcerative colitis and Crohn's disease. The third part (and the latest publications) includes birth outcome in women with Crohn's disease; and the methods of cohort establishment in these studies are developed and improved due to the knowledge gathered from conducting the earlier studies. The birth outcomes in women with ulcerative colitis are examined in a nationwide, Danish, cohort of women based on data from the Danish National Hospital Discharge Registry and the Danish Medical Birth Registry, and within a Hungarian case-control data set. Our data suggest: 1) Significantly increased risk of preterm birth when women give birth 0-6 months after establishment of the diagnosis. It is considered whether the increased risk may be influenced by disease activity around the time of establishing the diagnosis. 2) No increased risk of giving birth to children with low birth weight, intrauterine growth retardation or congenital abnormalities (evaluated overall). 3) Significantly increased risk of some selected congenital abnormalities (limb deficiencies, obstructive urinary and multiple congenital abnormalities). No other studies have examined the risk of selected congenital abnormalities in children born by women with ulcerative colitis. The pharmacoepidemiological studies on birth outcomes after use of anti-inflammatory drug therapy in pregnancy, including women with ulcerative colitis and Crohn's disease, are based on data from the Hungarian case-control data set, a countywide Danish prescription Database, the Danish National Hospital Discharge Registry, the Danish Medical Birth Registry, and review of selected medical records. After exposure to sulfasalazine

Outcomes of independent midwifery attended births in birth centres and home births: a retrospective cohort study in Japan.

Science.gov (United States)

Kataoka, Yaeko; Eto, Hiromi; Iida, Mariko

2013-08-01

blood loss over 500mL (RR1.28; 95%CI 1.07 to 1.53) and over 1000mL (RR1.75; 95%CI 1.04 to 2.82) compared to women birthing at home. our results for birth outcomes with independent midwives at birth centres and home births in Japan indicated a high degree of safety and evidence-based practice. This study had some limitations because of its incomplete data and low response rate. However, this is one of the few studies that reported outcomes of Japanese independent midwives and the safety of their practice. A birth registry system would provide us with more accurate and complete information of all childbirths with which to evaluate the safety of independent Japanese midwives. Copyright © 2013 Elsevier Ltd. All rights reserved.

Data linkage between the National Birth Defects Prevention Study and the Occupational Information Network (O*NET) to assess workplace physical activity, sedentary behaviors, and emotional stressors during pregnancy.

Science.gov (United States)

Lee, Laura J; Symanski, Elaine; Lupo, Philip J; Tinker, Sarah C; Razzaghi, Hilda; Pompeii, Lisa A; Hoyt, Adrienne T; Canfield, Mark A; Chan, Wenyaw

2016-02-01

Knowledge of the prevalence of work-related physical activities, sedentary behaviors, and emotional stressors among pregnant women is limited, and the extent to which these exposures vary by maternal characteristics remains unclear. Data on mothers of 6,817 infants without major birth defects, with estimated delivery during 1997 through 2009 who worked during pregnancy were obtained from the National Birth Defects Prevention Study. Information on multiple domains of occupational exposures was gathered by linking mother's primary job to the Occupational Information Network Version 9.0. The most frequent estimated physical activity associated with jobs during pregnancy was standing. Of 6,337 mothers, 31.0% reported jobs associated with standing for ≥75% of their time. There was significant variability in estimated occupational exposures by maternal age, race/ethnicity, and educational level. Our findings augment existing literature on occupational physical activities, sedentary behaviors, emotional stressors, and occupational health disparities during pregnancy. © 2015 Wiley Periodicals, Inc.

eRegistries: Electronic registries for maternal and child health.

Science.gov (United States)

Frøen, J Frederik; Myhre, Sonja L; Frost, Michael J; Chou, Doris; Mehl, Garrett; Say, Lale; Cheng, Socheat; Fjeldheim, Ingvild; Friberg, Ingrid K; French, Steve; Jani, Jagrati V; Kaye, Jane; Lewis, John; Lunde, Ane; Mørkrid, Kjersti; Nankabirwa, Victoria; Nyanchoka, Linda; Stone, Hollie; Venkateswaran, Mahima; Wojcieszek, Aleena M; Temmerman, Marleen; Flenady, Vicki J

2016-01-19

The Global Roadmap for Health Measurement and Accountability sees integrated systems for health information as key to obtaining seamless, sustainable, and secure information exchanges at all levels of health systems. The Global Strategy for Women's, Children's and Adolescent's Health aims to achieve a continuum of quality of care with effective coverage of interventions. The WHO and World Bank recommend that countries focus on intervention coverage to monitor programs and progress for universal health coverage. Electronic health registries - eRegistries - represent integrated systems that secure a triple return on investments: First, effective single data collection for health workers to seamlessly follow individuals along the continuum of care and across disconnected cadres of care providers. Second, real-time public health surveillance and monitoring of intervention coverage, and third, feedback of information to individuals, care providers and the public for transparent accountability. This series on eRegistries presents frameworks and tools to facilitate the development and secure operation of eRegistries for maternal and child health. In this first paper of the eRegistries Series we have used WHO frameworks and taxonomy to map how eRegistries can support commonly used electronic and mobile applications to alleviate health systems constraints in maternal and child health. A web-based survey of public health officials in 64 low- and middle-income countries, and a systematic search of literature from 2005-2015, aimed to assess country capacities by the current status, quality and use of data in reproductive health registries. eRegistries can offer support for the 12 most commonly used electronic and mobile applications for health. Countries are implementing health registries in various forms, the majority in transition from paper-based data collection to electronic systems, but very few have eRegistries that can act as an integrating backbone for health

Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.

Science.gov (United States)

Boer, Lucas L; Morava, Eva; Klein, Willemijn M; Schepens-Franke, Annelieke N; Oostra, Roelof Jan

2017-06-01

The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis. It is imaginable that different "primary field defects," whether or not genetically based, induce a spectrum of caudal malformations. In the current study, we review the contemporary hypotheses and conceptual approaches regarding the etiology and pathogenesis of sirenomelia, especially in the context of concomitant conditions. To expand on the latter, we included the external and internal dysmorphology of one third trimester sirenomelic fetus from our anatomical museum collection, in which multiple concomitant but discordant anomalies were observed compared with classic sirenomelia, and was diagnosed as VACTERL-H association with sirenomelia. Birth Defects Research 109:791-804, 2017. © 2017 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc. © 2017 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc.

Department of Defense Birth and Infant Health Registry: Select Reproductive Health Outcomes, 2003-2014 (Open Access Publisher’s Version)

Science.gov (United States)

2017-11-01

along with prior Registry analyses, pro- vide reassurance that military service is not independently associated with increased risks for select...deliveries are included in the Registry’s infant population due to standard exclusions . November 2017 Vol. 24 No. 11 MSMR Page 49 leveraging Registry data...exposure and adverse event detection in the Military Health System. Pharmacoepidemiol Drug Saf. 2015;24(5):510–517. 13. MacDorman MF, Gregory EC. Fetal

Operative technique at caesarean delivery and risk of complete uterine rupture in a subsequent trial of labour at term. A registry case-control study

DEFF Research Database (Denmark)

Thisted, Dorthe L. A.; Mortensen, Laust H.; Hvidman, Lone

2017-01-01

Objective: To estimate the relation of single-layer closure at previous caesarean delivery, and other pre-labour and intra-partum risk factors for complete uterine rupture in trial of vaginal birth after a caesarean (TOLAC) at term. Study design: Population-based case-control study. We identified...... all women (n = 39 742) recorded in the Danish Medical Birth Registry (DMBR) during a 12-year period (1997–2008) with a singleton pregnancy at term and TOLAC. Among these, all women with a complete uterine rupture were identified (cases). Information from the registry was validated against medical...... of uterine rupture. Conclusion: Single-layer uterine closure did not remain significantly associated to uterine rupture during TOLAC at term after adjustment for confounding factors. Induction of labour with an unfavourable cervix, birth weight ≥ 4000g and indicators of prolonged labour were all major risk...

Milk consumption during pregnancy is associated with increased infant size at birth: prospective cohort study

DEFF Research Database (Denmark)

Olsen, Sjurdur F; Halldorsson, Thorhallur I; Willett, Walter C

2007-01-01

BACKGROUND: Cow milk contains many potentially growth-promoting factors. OBJECTIVE: The objective was to examine whether milk consumption during pregnancy is associated with greater infant size at birth. DESIGN: During 1996-2002, the Danish National Birth Cohort collected data on midpregnancy diet...... through questionnaires and on covariates through telephone interviews and ascertained birth outcomes through registry linkages. Findings were adjusted for mother's parity, age, height, prepregnant BMI, gestational weight gain, smoking status, and total energy intake; father's height; and family...

Birth order and Risk of Childhood Cancer: A Pooled Analysis from Five U.S. States

OpenAIRE

Von Behren, Julie; Spector, Logan G.; Mueller, Beth A.; Carozza, Susan E.; Chow, Eric J.; Fox, Erin E.; Horel, Scott; Johnson, Kimberly J.; McLaughlin, Colleen; Puumala, Susan E.; Ross, Julie A.; Reynolds, Peggy

2010-01-01

The causes of childhood cancers are largely unknown. Birth order has been used as a proxy for prenatal and postnatal exposures, such as frequency of infections and in utero hormone exposures. We investigated the association between birth order and childhood cancers in a pooled case-control dataset. The subjects were drawn from population-based registries of cancers and births in California, Minnesota, New York, Texas, and Washington. We included 17,672 cases less than 15 years of age who were...

EMI Registry Design

CERN Document Server

Memon, S

2011-01-01

Grid services are the fundamental building blocks of today's Distributed Computing Infrastructures (DCI). The discovery of services in the DCI is a primary function that is a precursor to other tasks such as workload and data management. In this context, a service registry can be used to fulfil such a requirement. Existing service registries, such as the ARC Information Index or UNICORE Registry, are examples that have proven themselves in production environments. Such implementations provide a centralized service registry, however, todays DCIs, such as EGI, are based on a federation model. It is therefore necessary for the service registry to mirror such a model in order for it to seamlessly fit into the operational and management requirements - a DCI built using federated approach. This document presents an architecture for a federated service registry and a prototype based on this architecture, the EMI Registry. Special attention is given to how the federated service registry is robust to environment failu...

Pulse Oximetry Screening Adapted to a System with Home Births: The Dutch Experience

Directory of Open Access Journals (Sweden)

Ilona C. Narayen

2018-03-01

Full Text Available Neonatal screening for critical congenital heart defects is proven to be safe, accurate, and cost-effective. The screening has been implemented in many countries across all continents in the world. However, screening for critical congenital heart defects after home births had not been studied widely yet. The Netherlands is known for its unique perinatal care system with a high rate of home births (18% and early discharge after an uncomplicated delivery in hospital. We report a feasibility, accuracy, and acceptability study performed in the Dutch perinatal care system. Screening newborns for critical congenital heart defects using pulse oximetry is feasible after home births and early discharge, and acceptable to mothers. The accuracy of the test is comparable to other early-screening settings, with a moderate sensitivity and high specificity.

Residential agricultural pesticide exposures and risks of selected birth defects among offspring in the San Joaquin Valley of California.

Science.gov (United States)

Carmichael, Suzan L; Yang, Wei; Roberts, Eric; Kegley, Susan E; Brown, Timothy J; English, Paul B; Lammer, Edward J; Shaw, Gary M

2016-01-01

We examined associations of birth defects with residential proximity to commercial agricultural pesticide applications in California. Subjects included 367 cases representing five types of birth defects and 785 nonmalformed controls born 1997 to 2006. Associations with any versus no exposure to physicochemical groups of pesticides and specific chemicals were assessed using logistic regression adjusted for covariates. Overall, 46% of cases and 38% of controls were classified as exposed to pesticides within a 500 m radius of mother's address during a 3-month periconceptional window. We estimated odds ratios (ORs) for 85 groups and 95 chemicals with five or more exposed cases and control mothers. Ninety-five percent confidence intervals (CI) excluded 1.0 for 11 ORs for groups and 22 ORs for chemicals, ranging from 1.9 to 3.1 for groups and 1.8 to 4.9 for chemicals except for two that were <1 (noted below). For groups, these ORs were for anotia/microtia (n = 95 cases) and dichlorophenoxy acids/esters and neonicotinoids; anorectal atresia/stenosis (n = 77) and alcohol/ethers and organophosphates (these ORs were < 1.0); transverse limb deficiencies (n = 59) and dichlorophenoxy acids/esters, petroleum derivatives, and triazines; and craniosynostosis (n = 79) and alcohol/ethers, avermectins, neonicotinoids, and organophosphates. For chemicals, ORs were: anotia/microtia and five pesticides from the groups dichlorophenoxy acids/esters, copper-containing compounds, neonicotinoids, organophosphates, and triazines; transverse limb deficiency and six pesticides - oxyfluorfen and pesticides from the groups copper-containing compounds, 2,6-dinitroanilines, neonicotinoids, petroleum derivatives and polyalkyloxy compounds; craniosynostosis and 10 pesticides - oxyfluorfen and pesticides from the groups alcohol/ethers, avermectins, n-methyl-carbamates, neonicotinoids, ogranophosphates (two chemicals), polyalkyloxy compounds (two chemicals), and pyrethroids; and

Clinical differentiation of patent foramen ovale and secundum atrial septal defect: a survey of pediatric cardiologists in Dallas, Texas, USA.

Science.gov (United States)

Scheuerle, Angela

2011-01-01

Public health birth defect surveillance registries rely on health care provider diagnosis and definition of congenital anomalies. Major anomalies are likely to have consistent diagnoses across providers; however, definition of some more common, often minor, defects can be problematic. Of particular frustration are the transient neonatal heart findings: patent ductus arteriosus, patent foramen ovale, and pulmonary artery branch stenosis. Under certain circumstances these findings may be considered true anomalies-patent foramen ovale (PFO) as a clinical finding overlaps significantly with atrial septal defect (ASD) of secundum type, the latter being considered a true congenital malformation. Some criteria must be established to separate these conditions in case ascertainment. It is therefore helpful to understand the clinical definitions of patent foramen ovale and secundum atrial septal defect. Pediatric cardiologists in the greater Dallas, Texas metropolitan area were surveyed by telephone, fax, and/or email and asked what criteria they use to distinguish a PFO from a secundum ASD. This was an open-ended question. No baseline parameters were suggested or introduced by the interviewer. Pediatric cardiology fellowship training was identified for each physician to examine the hypothesis that graduates of a given program would use the same diagnostic criteria. Responses were obtained from 22 of 23 pediatric cardiologists. Four measurement criteria were identified: size of the opening, presence or absence of a flap of septal tissue, appearance of the defect on echocardiogram and presence/absence/amount of blood shunting across through the opening. Though there was overlap, diagnostic criteria differentiating PFO and secundum ASD varied among pediatric cardiologists. Two fellowship programs were well represented by the respondent population. Eight respondents were trained at Fellowship 1 and 5 at Fellowship 2. Place of fellowship training was not a strong indicator of

The German Aortic Valve Registry (GARY): a nationwide registry for patients undergoing invasive therapy for severe aortic valve stenosis.

Science.gov (United States)

Beckmann, A; Hamm, C; Figulla, H R; Cremer, J; Kuck, K H; Lange, R; Zahn, R; Sack, S; Schuler, G C; Walther, T; Beyersdorf, F; Böhm, M; Heusch, G; Funkat, A K; Meinertz, T; Neumann, T; Papoutsis, K; Schneider, S; Welz, A; Mohr, F W

2012-07-01

Background The increasing prevalence of severe aortic valve defects correlates with the increase of life expectancy. For decades, surgical aortic valve replacement (AVR), under the use of extracorporeal circulation, has been the gold standard for treatment of severe aortic valve diseases. In Germany ~12,000 patients receive isolated aortic valve surgery per year. For some time, percutaneous balloon valvuloplasty has been used as a palliative therapeutic option for very few patients. Currently, alternatives for the established surgical procedures such as transcatheter aortic valve implantation (TAVI) have become available, but there are only limited data from randomized studies or low-volume registries concerning long-time outcome. In Germany, the implementation of this new technology into hospital care increased rapidly in the past few years. Therefore, the German Aortic Valve Registry (GARY) was founded in July 2010 including all available therapeutic options and providing data from a large quantity of patients.Methods The GARY is assembled as a complete survey for all invasive therapies in patients with relevant aortic valve diseases. It evaluates the new therapeutic options and compares them to surgical AVR. The model for data acquisition is based on three data sources: source I, the mandatory German database for external performance measurement; source II, a specific registry dataset; and source III, a follow-up data sheet (generated by phone interview). Various procedures will be compared concerning observed complications, mortality, and quality of life up to 5 years after the initial procedure. Furthermore, the registry will enable a compilation of evidence-based indication criteria and, in addition, also a comparison of all approved operative procedures, such as Ross or David procedures, and the use of different mechanical or biological aortic valve prostheses.Results Since the launch of data acquisition in July 2010, almost all institutions performing

The App-Runx1 region is critical for birth defects and electrocardiographic dysfunctions observed in a Down syndrome mouse model.

Directory of Open Access Journals (Sweden)

Matthieu Raveau

2012-05-01

Full Text Available Down syndrome (DS leads to complex phenotypes and is the main genetic cause of birth defects and heart diseases. The Ts65Dn DS mouse model is trisomic for the distal part of mouse chromosome 16 and displays similar features with post-natal lethality and cardiovascular defects. In order to better understand these defects, we defined electrocardiogram (ECG with a precordial set-up, and we found conduction defects and modifications in wave shape, amplitudes, and durations in Ts65Dn mice. By using a genetic approach consisting of crossing Ts65Dn mice with Ms5Yah mice monosomic for the App-Runx1 genetic interval, we showed that the Ts65Dn viability and ECG were improved by this reduction of gene copy number. Whole-genome expression studies confirmed gene dosage effect in Ts65Dn, Ms5Yah, and Ts65Dn/Ms5Yah hearts and showed an overall perturbation of pathways connected to post-natal lethality (Coq7, Dyrk1a, F5, Gabpa, Hmgn1, Pde10a, Morc3, Slc5a3, and Vwf and heart function (Tfb1m, Adam19, Slc8a1/Ncx1, and Rcan1. In addition cardiac connexins (Cx40, Cx43 and sodium channel sub-units (Scn5a, Scn1b, Scn10a were found down-regulated in Ts65Dn atria with additional down-regulation of Cx40 in Ts65Dn ventricles and were likely contributing to conduction defects. All these data pinpoint new cardiac phenotypes in the Ts65Dn, mimicking aspects of human DS features and pathways altered in the mouse model. In addition they highlight the role of the App-Runx1 interval, including Sod1 and Tiam1, in the induction of post-natal lethality and of the cardiac conduction defects in Ts65Dn. These results might lead to new therapeutic strategies to improve the care of DS people.

Physically strenuous work during pregnancy and risk of preterm birth

DEFF Research Database (Denmark)

Knudsen, Iben Risager; Bonde, Jens Peter; Bondo, Sesilje

2017-01-01

computed by logistic regression using a population sample of gainfully employed women as reference (n = 345,915). The risk of preterm birth was increased in women lifting heavy loads during pregnancy (OR 1.40, 95% CI [0.88, 2.23]) but not in women with physically strenuous work (OR 0.98, 95% CI [0.66, 1......The aim of the study was to examine the risk of preterm birth following physically strenuous work during pregnancy. We included 343 pregnant women referred to an occupational medical clinic. Data on preterm birth and covariates were retrieved from the Danish Birth Registry. Risk estimates were.......46]). The mean gestational age in the heavy-lifting group compared to the reference group was 2.4 days shorter (95% CI [0.36, 4.41]). The study challenges earlier reassuring findings as heavy-lifting pregnant women had a reduced gestational age, indicating a possibility of increased risk of preterm birth....

Multilevel factors influencing preterm birth in an urban setting

Directory of Open Access Journals (Sweden)

Saba W. Masho

2014-01-01

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

The influence of birth weight and body mass in early adulthood on early coronary heart disease risk among Danish men born in 1953

DEFF Research Database (Denmark)

Osler, Merete; Lund, Rikke; Kriegbaum, Margit

2009-01-01

This study examines the joint and separate influence of birth weight and body mass in young adulthood on subsequent coronary heart disease (CHD) risk. A cohort of 9,143 men born in Copenhagen, Denmark, in 1953, for whom information on birth weight and body weight and height around age 19 years were...... retrieved from birth certificates and conscript records, respectively, were followed from 1978 until 2005 (between age 25 and 52 years) for incident fatal and non-fatal CHD. Data on CHD were obtained through record linkage to the Cause of Death Registry and the National Patient Registry. During follow......-up, a total of 475 men had a CHD diagnosis. Men with low birth weight, high body mass index (BMI) at age 19, a father from the working class, and low educational level at age 19 had an increased risk for CHD. Birth weight was inversely associated with CHD only in men with BMI of 25 kg/m(2) or above...

Why babies die in unplanned out?of?institution births: an enquiry into perinatal deaths in Norway 1999?2013

OpenAIRE

Gunnarsson, Bj?rn; Fasting, Sigurd; Skogvoll, Eirik; Sm?rason, Alexander K.; Salvesen, Kjell ?.

2017-01-01

Introduction The aims were to describe causes of death associated with unplanned out-of-institution births, and to study whether they could be prevented. Material and methods Retrospective population-based observational study based on data from the Medical Birth Registry of Norway and medical records. Between 1 January 1999 and 31 December 2013, 69 perinatal deaths among 6027 unplanned out-of-institution births, whether unplanned at home, during transportation, or unspecified, were...

Genetics Home Reference: abdominal wall defect

Science.gov (United States)

... are two main types of abdominal wall defects: omphalocele and gastroschisis . Omphalocele is an opening in the center of the ... covering the exposed organs in gastroschisis. Fetuses with omphalocele may grow slowly before birth (intrauterine growth retardation) ...

Quality assessment of home births in Denmark.

Science.gov (United States)

Jensen, Sabrina; Colmorn, Lotte B; Schroll, Anne-Mette; Krebs, Lone

2017-05-01

The safety of home births has been widely debated. Observational studies examining maternal and neonatal outcomes of home births have become more frequent, and the quality of these studies has improved. The aim of the present study was to describe neonatal outcomes of home births compared with hospital births and to discuss which data are needed to evaluate the safety of home births. This was a register-based cohort study. Data on all births in Denmark (2003-2013) were collected from the Danish Medical Birth Registry (DMBR). The cohort included healthy women with uncomplicated pregnancies and no medical interventions during delivery. A total of 6,395 home births and 266,604 hospital births were eligible for analysis. Comparative analyses were performed separately in nulliparous and multiparous women. The outcome measures were neonatal mortality and morbidity. Frequencies of admission to a neonatal intensive care unit and treatment with continuous positive airway pressure were significantly lower in infants born at home than in infants born at a hospital. A slightly, but significantly increased rate of early neonatal death was found among infants delivered by nulliparous at home. This study indicates that home births in Denmark are characterized by a high level of safety owing to low rates of perinatal mortality and morbidity. Missing registration on intrapartum transfers and planned versus unplanned home births in the DMBR are, however, major limitations to the validity and utility of the reported results. Registration of these items of information is necessary to make reasonable assessments of home births in the future. none. not relevant. Articles published in the DMJ are “open access”. This means that the articles are distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits any non-commercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.

A multinational case-control study on childhood brain tumours, anthropogenic factors, birth characteristics and prenatal exposures: A validation of interview data.

Science.gov (United States)

Vienneau, Danielle; Infanger, Denis; Feychting, Maria; Schüz, Joachim; Schmidt, Lisbeth Samsø; Poulsen, Aslak Harbo; Tettamanti, Giorgio; Klæboe, Lars; Kuehni, Claudia E; Tynes, Tore; Von der Weid, Nicolas; Lannering, Birgitta; Röösli, Martin

2016-02-01

Little is known about the aetiology of childhood brain tumours. We investigated anthropometric factors (birth weight, length, maternal age), birth characteristics (e.g. vacuum extraction, preterm delivery, birth order) and exposures during pregnancy (e.g. maternal: smoking, working, dietary supplement intake) in relation to risk of brain tumour diagnosis among 7-19 year olds. The multinational case-control study in Denmark, Sweden, Norway and Switzerland (CEFALO) included interviews with 352 (participation rate=83.2%) eligible cases and 646 (71.1%) population-based controls. Interview data were complemented with data from birth registries and validated by assessing agreement (Cohen's Kappa). We used conditional logistic regression models matched on age, sex and geographical region (adjusted for maternal age and parental education) to explore associations between birth factors and childhood brain tumour risk. Agreement between interview and birth registry data ranged from moderate (Kappa=0.54; worked during pregnancy) to almost perfect (Kappa=0.98; birth weight). Neither anthropogenic factors nor birth characteristics were associated with childhood brain tumour risk. Maternal vitamin intake during pregnancy was indicative of a protective effect (OR 0.75, 95%-CI: 0.56-1.01). No association was seen for maternal smoking during pregnancy or working during pregnancy. We found little evidence that the considered birth factors were related to brain tumour risk among children and adolescents. Copyright © 2015 Elsevier Ltd. All rights reserved.

Some Considerations on the Adoption Registration in the Civil Registry

Directory of Open Access Journals (Sweden)

Gabriela LUPŞAN

2014-12-01

Full Text Available Filiation is, in a broad sense, an identity element, dependent or not on the biological relationships, that represents, in some situations, either a condition for the existence of a right (e.g. the right to inheritance or for example to conclude a legal act (e.g. marriage. The proof of filiation is the birth certificate drawn up in civil registry or on the material basis of birth, or on the basis of the adoption judgment. In this paper, we aimed at analyzing the final part of the adoption procedure, the subsequent stage for becoming final the adoption judgment, which sets face to face the adopting person or family and the administrative authority, obliged to execute the judge's decision, i.e. to create a filiation relation between the adopted on the one hand and the adoptive parent or parents.

Preventing neural tube defects in Europe: a missed opportunity.

Science.gov (United States)

Busby, Araceli; Abramsky, Lenore; Dolk, Helen; Armstrong, Ben; Addor, Marie-Claude; Anneren, Goran; Armstrong, Nicola; Baguette, Andre; Barisic, Ingeborg; Berghold, Andrea; Bianca, Sebastiano; Braz, Paula; Calzolari, Elisa; Christiansen, Marianne; Cocchi, Guido; Daltveit, Anne Kjersti; De Walle, Hermien; Edwards, Grace; Gatt, Miriam; Gener, Blanca; Gillerot, Yves; Gjergja, Romana; Goujard, Janine; Haeusler, Martin; Latos-Bielenska, Anna; McDonnell, Robert; Neville, Amanda; Olars, Birgitta; Portillo, Isabel; Ritvanen, Annukka; Robert-Gnansia, Elizabeth; Rösch, Christine; Scarano, Gioacchino; Steinbicker, Volker

2005-01-01

Each year, more than 4500 pregnancies in the European Union are affected by neural tube defects (NTD). Unambiguous evidence of the effectiveness of periconceptional folic acid in preventing the majority of neural tube defects has been available since 1991. We report on trends in the total prevalence of neural tube defects up to 2002, in the context of a survey in 18 European countries of periconceptional folic acid supplementation (PFAS) policies and their implementation. EUROCAT is a network of population-based registries in Europe collaborating in the epidemiological surveillance of congenital anomalies. Representatives from 18 participating countries provided information about policy, health education campaigns and surveys of PFAS uptake. The yearly total prevalence of neural tube defects including livebirths, stillbirths and terminations of pregnancy was calculated from 1980 to 2002 for 34 registries, with UK and Ireland estimated separately from the rest of Europe. A meta-analysis of changes in NTD total prevalence between 1989-1991 and 2000-2002 according to PFAS policy was undertaken for 24 registries. By 2005, 13 countries had a government recommendation that women planning a pregnancy should take 0.4mg folic acid supplement daily, accompanied in 7 countries by government-led health education initiatives. In the UK and Ireland, countries with PFAS policy, there was a 30% decline in NTD total prevalence (95% CI 16-42%) but it was difficult to distinguish this from the pre-existing strong decline. In other European countries with PFAS policy, there was virtually no decline in NTD total prevalence whether a policy was in place by 1999 (2%, 95% CI 28% reduction to 32% increase) or not (8%, 95% CI 26% reduction to 16% increase). The potential for preventing NTDs by periconceptional folic acid supplementation is still far from being fulfilled in Europe. Only a public health policy including folic acid fortification of staple foods is likely to result in large

Windows registry forensics advanced digital forensic analysis of the Windows registry

CERN Document Server

Carvey, Harlan

2011-01-01

Harlan Carvey brings readers an advanced book on Windows Registry - the most difficult part of Windows to analyze in forensics! Windows Registry Forensics provides the background of the Registry to help develop an understanding of the binary structure of Registry hive files. Approaches to live response and analysis are included, and tools and techniques for postmortem analysis are discussed at length. Tools and techniques will be presented that take the analyst beyond the current use of viewers and into real analysis of data contained in the Registry. This book also has a DVD containing tools, instructions and videos.

Maternal mortality in rural south Ethiopia: outcomes of community-based birth registration by health extension workers.

Directory of Open Access Journals (Sweden)

Yaliso Yaya

Full Text Available Rural communities in low-income countries lack vital registrations to track birth outcomes. We aimed to examine the feasibility of community-based birth registration and measure maternal mortality ratio (MMR in rural south Ethiopia.In 2010, health extension workers (HEWs registered births and maternal deaths among 421,639 people in three districts (Derashe, Bonke, and Arba Minch Zuria. One nurse-supervisor per district provided administrative and technical support to HEWs. The primary outcomes were the feasibility of registration of a high proportion of births and measuring MMR. The secondary outcome was the proportion of skilled birth attendance. We validated the completeness of the registry and the MMR by conducting a house-to-house survey in 15 randomly selected villages in Bonke.We registered 10,987 births (81·4% of expected 13,492 births with annual crude birth rate of 32 per 1,000 population. The validation study showed that, of 2,401 births occurred in the surveyed households within eight months of the initiation of the registry, 71·6% (1,718 were registered with similar MMRs (474 vs. 439 between the registered and unregistered births. Overall, we recorded 53 maternal deaths; MMR was 489 per 100,000 live births and 83% (44 of 53 maternal deaths occurred at home. Ninety percent (9,863 births were at home, 4% (430 at health posts, 2·5% (282 at health centres, and 3·5% (412 in hospitals. MMR increased if: the male partners were illiterate (609 vs. 346; p= 0·051 and the villages had no road access (946 vs. 410; p= 0·039. The validation helped to increase the registration coverage by 10% through feedback discussions.It is possible to obtain a high-coverage birth registration and measure MMR in rural communities where a functional system of community health workers exists. The MMR was high in rural south Ethiopia and most births and maternal deaths occurred at home.

Maternal Mortality in Rural South Ethiopia: Outcomes of Community-Based Birth Registration by Health Extension Workers

Science.gov (United States)

Yaya, Yaliso; Data, Tadesse; Lindtjørn, Bernt

2015-01-01

Introduction Rural communities in low-income countries lack vital registrations to track birth outcomes. We aimed to examine the feasibility of community-based birth registration and measure maternal mortality ratio (MMR) in rural south Ethiopia. Methods In 2010, health extension workers (HEWs) registered births and maternal deaths among 421,639 people in three districts (Derashe, Bonke, and Arba Minch Zuria). One nurse-supervisor per district provided administrative and technical support to HEWs. The primary outcomes were the feasibility of registration of a high proportion of births and measuring MMR. The secondary outcome was the proportion of skilled birth attendance. We validated the completeness of the registry and the MMR by conducting a house-to-house survey in 15 randomly selected villages in Bonke. Results We registered 10,987 births (81·4% of expected 13,492 births) with annual crude birth rate of 32 per 1,000 population. The validation study showed that, of 2,401 births occurred in the surveyed households within eight months of the initiation of the registry, 71·6% (1,718) were registered with similar MMRs (474 vs. 439) between the registered and unregistered births. Overall, we recorded 53 maternal deaths; MMR was 489 per 100,000 live births and 83% (44 of 53 maternal deaths) occurred at home. Ninety percent (9,863 births) were at home, 4% (430) at health posts, 2·5% (282) at health centres, and 3·5% (412) in hospitals. MMR increased if: the male partners were illiterate (609 vs. 346; p= 0·051) and the villages had no road access (946 vs. 410; p= 0·039). The validation helped to increase the registration coverage by 10% through feedback discussions. Conclusion It is possible to obtain a high-coverage birth registration and measure MMR in rural communities where a functional system of community health workers exists. The MMR was high in rural south Ethiopia and most births and maternal deaths occurred at home. PMID:25799229

Cancer in children and young adults born after assisted reproductive technology

DEFF Research Database (Denmark)

Sundh, Karin Jerhamre; Henningsen, Anna-Karina A; Källen, Karin

2014-01-01

STUDY QUESTION: Do children and young adults born after assisted reproductive technology (ART) have an increased risk of cancer? SUMMARY ANSWER: Children born after ART showed no overall increase in the rate of cancer when compared with children born as a result of spontaneous conception. WHAT...... IS KNOWN ALREADY: Children born after ART have more adverse perinatal outcomes, i.e. preterm births, low birthweights and birth defects. Previous studies have shown divergent results regarding the risk of cancer among children born after ART. STUDY DESIGN, SIZE, DURATION: A retrospective Nordic population...... group of children born after spontaneous conception. This control group was almost 4-fold the size of the ART group (n = 358 419) and matched for parity, year of birth and country. Data on perinatal outcomes and cancer were obtained from the National Medical Birth Registries, the Cancer Registries...

Children with low birth weight and low gestational age in Oslo, Norway: immigration is not the cause of increasing proportions.

OpenAIRE

Stoltenberg, C; Magnus, P

1995-01-01

STUDY OBJECTIVE--To determine the influence of children born to immigrant mothers on the total proportions of low birth weight and preterm deliveries in Oslo and to explain the increases in the proportions of children with low birth weight and low gestational age since 1980-1982. DESIGN--This was a cross sectional study based on Norwegian Medical Birth Registry data and information on mothers' country of birth from the Central Bureau of Statistics. SETTING--Oslo, Norway 1968-91. POPULATION--A...

Increasing low birth weight rates: deliveries in a tertiary hospital in istanbul.

Science.gov (United States)

Akin, Yasemin; Cömert, Serdar; Turan, Cem; Unal, Orhan; Piçak, Abdülkadir; Ger, Lale; Telatar, Berrin

2010-09-01

Prevalence of low birth weight deliveries may vary across different environments. The necessity of determination of regional data prompted this study. Information of all deliveries from January 2004 to December 2008 was obtained from delivery registry records retrospectively. Initial data including birth weight, vital status, sex, maternal age and mode of delivery were recorded using medical files. The frequency of low birth weight, very low birth weight, extremely low birth weight and stillbirth deliveries were determined. Among 19,533 total births, there were 450 (23.04 per 1000) stillbirths. Low birth weight rate was 10.61%. A significant increase in yearly distribution of low birth weight deliveries was observed (Pbirth weight and extremely low birth weight delivery rates were 3.14% and 1.58% respectively. Among 2073 low birth weight infants, 333 (16.06%) were stillbirths. The stillbirth delivery rate and the birth of a female infant among low birth weight deliveries were significantly higher than infants with birth weight ≥2500g (Pbirth weight and maternal age. The rate of cesarean section among low birth weight infants was 49.4%. High low birth weight and stillbirth rates, as well as the increase in low birth weight deliveries over the past five years in this study are striking. For reduction of increased low birth weight rates, appropriate intervention methods should be initiated.

Contribution of Congenital Anomalies to Preterm Birth Risk in the Netherlands: poster presentation

NARCIS (Netherlands)

Mohangoo1, A.; Lanting, C.; Bennebroek Gravenhorst, J.; Verloove-Vanhorick, P.; Buitendijk, S.

2010-01-01

Objective: To asses the extents to which congenital anomalies affect risk of preterm birth. Methods: For the present study, we analysed data on 1,972,058 newborns registered in the Netherlands Perinatal Registry database (inclusion criteria 16 weeks of gestation). Logistic regression techniques were

Epidemiologic study of neural tube defects in Los Angeles County. II. Etiologic factors in an area with low prevalence at birth

Energy Technology Data Exchange (ETDEWEB)

Sever, L.E.

1982-01-01

Epidemiologic characteristics of neural tube defect (NTD) births occurring in Los Angeles County, California, residents during the period 1966-1972 are presented. The prevalence at birth was 0.52/1000 births for anencephalus, 0.51/1000 for spina bifida, and 0.08/1000 for encephalocele, rates considered to be low for a predominantly white population. We hypothesized that environmental (nongenetic) factors are of less etiologic importance in a low-prevalence population than in areas or time periods with high prevalence. We tested that hypothesis by examining epidemiologic characteristics of NTDs in Los Angeles County and comparing them with high-prevalence populations. The data did not support a major etiologic role for environmental factors: (1) no significant differences between rates by month of birth or conception; (2) no significant association with maternal age or parity for anencephalus; for spina bifida a significant maternal age effect (P < 0.01) and for encephalocele a parity effect (P < 0.02); and (3) no significant relationship with father's occupational class for either anencephalus or encephalocele but a marginally significant (P < 0.05) inverse association for spina bifida when a statistic based on ordinal relationships was used. Findings supporting the importance of genetic factors in etiology included: (1) a high percentage of males; (2) a higher twin concordance rate than in high-prevalence populations; and (3) an anencephalus rate among blacks comparable with rates for blacks in other United States populations. Our findings in conjunction with those from other areas and times of low prevalence suggest environmental factors play a relatively insignificant role in the etiology of NTDs in such populations.

Maternal Use of Weight Loss Products and the Risk of Neural Tube Defects in Offspring: A Systematic Literature Review.

Science.gov (United States)

Hoang, Thanh T; Agopian, A J; Mitchell, Laura E

2018-01-15

Several studies have assessed potential associations between use of weight loss products in the periconceptional period and neural tube defects (NTDs). However, the individual studies are inconclusive and there has not been a systematic review of this literature. We conducted a systematic search, using Ovid MEDLINE and PubMed, to identify studies that evaluated the association between products used for weight loss and the risk of NTDs. Because many studies of birth defects only evaluate a composite birth defect outcome, we evaluated studies that defined the outcome as "any major birth defect" or as NTDs. We abstracted data on study design, exposure definition, outcome definition, covariates and effect size estimates from each article that met our inclusion criteria. For studies that evaluated a composite birth defect outcome, we also abstracted the number of NTD cases included in the composite outcome. We used a modified version of the Newcastle-Ottawa Scale to assess the quality of each article. We screened 865 citations and identified nine articles that met our inclusion criteria. The majority of studies reported positive associations between maternal use of weight loss products and birth defects (overall and NTDs). However, there were few significant associations and there was considerable heterogeneity in the specific exposures assessed across the nine studies. Our systematic review of weight loss products and NTDs indicates that the literature on this topic is sparse. Because several studies reported modest, positive associations between risk and use of weight loss products, additional studies are warranted. Birth Defects Research 110:48-55, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Second generation registry framework.

Science.gov (United States)

Bellgard, Matthew I; Render, Lee; Radochonski, Maciej; Hunter, Adam

2014-01-01

Information management systems are essential to capture data be it for public health and human disease, sustainable agriculture, or plant and animal biosecurity. In public health, the term patient registry is often used to describe information management systems that are used to record and track phenotypic data of patients. Appropriate design, implementation and deployment of patient registries enables rapid decision making and ongoing data mining ultimately leading to improved patient outcomes. A major bottleneck encountered is the static nature of these registries. That is, software developers are required to work with stakeholders to determine requirements, design the system, implement the required data fields and functionality for each patient registry. Additionally, software developer time is required for ongoing maintenance and customisation. It is desirable to deploy a sophisticated registry framework that can allow scientists and registry curators possessing standard computing skills to dynamically construct a complete patient registry from scratch and customise it for their specific needs with little or no need to engage a software developer at any stage. This paper introduces our second generation open source registry framework which builds on our previous rare disease registry framework (RDRF). This second generation RDRF is a new approach as it empowers registry administrators to construct one or more patient registries without software developer effort. New data elements for a diverse range of phenotypic and genotypic measurements can be defined at any time. Defined data elements can then be utilised in any of the created registries. Fine grained, multi-level user and workgroup access can be applied to each data element to ensure appropriate access and data privacy. We introduce the concept of derived data elements to assist the data element standards communities on how they might be best categorised. We introduce the second generation RDRF that

Risk of breast cancer following fertility treatment--a registry based cohort study of parous women in Norway.

Science.gov (United States)

Reigstad, Marte Myhre; Larsen, Inger Kristin; Myklebust, Tor Åge; Robsahm, Trude Eid; Oldereid, Nan Birgitte; Omland, Anne Katerine; Vangen, Siri; Brinton, Louise Annette; Storeng, Ritsa

2015-03-01

Despite increasing numbers of women availing themselves of assisted reproductive technology (ART), effects on cancer risk remain unresolved. Given hormonal exposures, breast cancer risk is of particular concern. The aim of this study is to investigate breast cancer risk amongst women giving birth following ART as compared to that amongst women who gave birth without ART. Data on all women who gave birth in Norway with or without ART, between 1984 and 2010 were obtained from the Medical Birth Registry of Norway (MBRN). 808,834 women eligible for study were linked to the Cancer Registry of Norway. Cox proportional models computed hazard ratios (HR) and 95% confidence intervals (CI) of breast cancer between the two groups, adjusting for age, parity, age at first birth, calendar period and region of residence. In total, 8,037 women were diagnosed with breast cancer during the study period, 138 ART women and 7,899 unexposed. Total follow-up time was 12,401,121 person-years (median 16.0); median age at entry was 32.5 years (range 18.6-49.9) for ART women and 26.3 (range 10.5-54.6) for unexposed. Women exposed to ART had an elevated risk of breast cancer (adjusted HR 1.20, 95% CI 1.01-1.42). Subgroup analyses gave an HR of 1.30 (95% CI 1.07-1.57) for women treated with IVF and 1.35 (95 % CI 1.07-1.71) for women with follow-up >10 years, compared with controls. Our findings of increased risk in the study population warrant continued monitoring of women treated with ART as this population advances into more typical cancer age ranges. © 2014 UICC.

KIR and HLA-C: Immunogenetic regulation of human birth weight

Directory of Open Access Journals (Sweden)

Lydia E. Farrell

2014-12-01

Full Text Available Pregnancies resulting in very small or very large babies are at higher risk of obstetric complications with increased morbidity for both mother and baby. Using data from the Medical Birth Registry of Norway we have shown how human birth weight is still subject to stabilizing selection. Particular combinations of maternal/fetal immune genes have been implicated in pregnancies resulting in a low birth weight baby (<5th birth weight centile. More specifically, an inhibitory maternal KIRAA genotype with a paternally derived fetal HLA-C2 ligand. At the other end of the birth weight spectrum the presence of an activating maternal KIR2DS1 gene is associated with increased birth weight in linear or logistic regression analyses of all pregnancies >5th centile (p=0.005, OR=2.65. Thus, inhibitory maternal KIR combined with fetal HLA-C2 is more frequently associated with low birth weight, whereas activating maternal KIR with fetal HLA-C2 ligand is associated with increasing birth weight. Our findings using the MoBa cohort have replicated the association of KIR and HLA-C seen in poor placentation, and confirm the importance of maternal/fetal immune gene interactions in determining the outcome of pregnancy.

Combined adverse effects of maternal smoking and high body mass index on heart development in offspring : evidence for interaction?

NARCIS (Netherlands)

Baardman, M.E.; Kerstjens-Frederikse, W.S.; Corpeleijn, E.; de Walle, H.E.K.; Hofstra, R.M.W.; Berger, R.M.F.; Bakker, M.K.

Objective To study the influence of a possible interaction between maternal smoking and high body mass index (BMI) on the occurrence of specific congenital heart anomalies (CHA) in offspring. Design Case-control study. Setting Data from a population-based birth defects registry in the Netherlands.

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

Science.gov (United States)

Sernadela, Pedro; González-Castro, Lorena; Carta, Claudio; van der Horst, Eelke; Lopes, Pedro; Kaliyaperumal, Rajaram; Thompson, Mark; Thompson, Rachel; Queralt-Rosinach, Núria; Lopez, Estrella; Wood, Libby; Robertson, Agata; Lamanna, Claudia; Gilling, Mette; Orth, Michael; Merino-Martinez, Roxana; Posada, Manuel; Taruscio, Domenica; Lochmüller, Hanns; Robinson, Peter; Roos, Marco; Oliveira, José Luís

2017-01-01

Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step to improve patient treatments and to create the most adequate tools for personalized medicine. However, the growing number of disease-specific patient registries brings also new technical challenges. Usually, these systems are developed as closed data silos, with independent formats and models, lacking comprehensive mechanisms to enable data sharing. To tackle these challenges, we developed a Semantic Web based solution that allows connecting distributed and heterogeneous registries, enabling the federation of knowledge between multiple independent environments. This semantic layer creates a holistic view over a set of anonymised registries, supporting semantic data representation, integrated access, and querying. The implemented system gave us the opportunity to answer challenging questions across disperse rare disease patient registries. The interconnection between those registries using Semantic Web technologies benefits our final solution in a way that we can query single or multiple instances according to our needs. The outcome is a unique semantic layer, connecting miscellaneous registries and delivering a lightweight holistic perspective over the wealth of knowledge stemming from linked rare disease patient registries.

Registry data for cross-country comparisons of migrants' healthcare utilization in the EU: a survey study of availability and content

Directory of Open Access Journals (Sweden)

Krasnik Allan

2009-11-01

Full Text Available Abstract Background Cross-national comparable data on migrants' use of healthcare services are important to address problems in access to healthcare; to identify high risk groups for prevention efforts; and to evaluate healthcare systems comparatively. Some of the main obstacles limiting analyses of health care utilization are lack of sufficient coverage and availability of reliable and valid healthcare data which includes information allowing for identification of migrants. The objective of this paper was to reveal which registry data on healthcare utilization were available in the EU countries in which migrants can be identified; and to determine to what extent data were comparable between the EU countries. Methods A questionnaire survey on availability of healthcare utilization registries in which migrants can be identified was carried out among all national statistic agencies and other relevant national health authorities in the 27 EU countries in 2008-9 as part of the Migrant and Ethnic Minority Health Observatory-project (MEHO. The information received was compared with information from a general survey on availability of survey and registry data on migrants conducted by Agency of Public Health, Lazio Region, Italy within the MEHO-project; thus, the information on registries was double-checked to assure accuracy and verification. Results Available registry data on healthcare utilization which allow for identification on migrants on a national/regional basis were only reported in 11 EU countries: Austria, Belgium, Denmark, Finland, Greece, Italy, Luxembourg, the Netherlands, Poland, Slovenia, and Sweden. Data on hospital care, including surgical procedures, were most frequently available whereas only few countries had data on care outside the hospital. Regarding identification of migrants, five countries reported having information on both citizenship and country of birth, one reported availability of information on country of birth, and

Congenital Anomalies Associated with Trisomy 18 or Trisomy 13 : A Registry-Based Study in 16 European Countries, 2000-2011

NARCIS (Netherlands)

Springett, Anna; Wellesley, Diana; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke; Cavero-Carbonell, Clara; Csaky-Szunyogh, Melinda; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; Dias, Carlos Matias; McDonnell, Robert; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Rounding, Catherine; Stoianova, Sylvia; Tuckerz, David; Zymak-Zakutnia, Natalya; Morris, Joan K.

2015-01-01

The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and

Possible association of first and high birth order of pregnant women with the risk of isolated congenital abnormalities in Hungary - a population-based case-matched control study.

Science.gov (United States)

Csermely, Gyula; Susánszky, Éva; Czeizel, Andrew E; Veszprémi, Béla

2014-08-01

In epidemiological studies at the estimation of risk factors in the origin of specified congenital abnormalities in general birth order (parity) is considered as confounder. The aim of this study was to analyze the possible association of first and high (four or more) birth order with the risk of congenital abnormalities in a population-based case-matched control data set. The large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities included 21,494 cases with different isolated congenital abnormality and their 34,311 matched controls. First the distribution of birth order was compared of 24 congenital abnormality groups and their matched controls. In the second step the possible association of first and high birth order with the risk of congenital abnormalities was estimated. Finally some subgroups of neural-tube defects, congenital heart defects and abdominal wall's defects were evaluated separately. A higher risk of spina bifida aperta/cystica, esophageal atresia/stenosis and clubfoot was observed in the offspring of primiparous mothers. Of 24 congenital abnormality groups, 14 had mothers with larger proportion of high birth order. Ear defects, congenital heart defects, cleft lip± palate and obstructive defects of urinary tract had a linear trend from a lower proportion of first born cases to the larger proportion of high birth order. Birth order showed U-shaped distribution of neural-tube defects and clubfoot, i.e. both first and high birth order had a larger proportion in cases than in their matched controls. Birth order is a contributing factor in the origin of some isolated congenital abnormalities. The higher risk of certain congenital abnormalities in pregnant women with first or high birth order is worth considering in the clinical practice, e.g. ultrasound scanning. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

Benefits of smoking bans on preterm and early-term births: a natural experimental design in Switzerland.

Science.gov (United States)

Vicedo-Cabrera, Ana M; Schindler, Christian; Radovanovic, Dragana; Grize, Leticia; Witassek, Fabienne; Dratva, Julia; Röösli, Martin; Perez, Laura

2016-12-01

Birth outcomes are relevant for future children's heath. Capitalising on a natural experimental design in Switzerland, we evaluated how regional smoking bans introduced at different time points affected birth outcomes, including preterm and early-term births. We used birth registry data of all singleton neonates born in Switzerland (2007-2012). We developed canton-specific interrupted time-series followed by random meta-analysis to evaluate the benefits of smoking bans on preterm (Switzerland with cantons that adopted more comprehensive smoking bans achieving greater benefits. Early-term births constitute a previously ignored though important group. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

First-trimester smoking cessation in pregnancy did not increase the risk of preeclampsia/eclampsia: A Murmansk County Birth Registry study.

Directory of Open Access Journals (Sweden)

Olga A Kharkova

Full Text Available Although prior studies have shown that smoking reduces preeclampsia/eclampsia risk, the consequence of giving up this habit during pregnancy should be assessed. The aims of the current study were threefold: (i describe maternal characteristics of women with preeclampsia/eclampsia; (ii examine a possible association between the number of cigarettes smoked daily during pregnancy and the development of this affliction; and (iii determine if first-trimester discontinuation of smoking during pregnancy influences the risk.A registry-based study was conducted using data from the Murmansk County Birth Registry (MCBR. It included women without pre-existing hypertension, who delivered a singleton infant during 2006-2011 and had attended the first antenatal visit before 12 week of gestation. We adjusted for potential confounders using logistic regression.The prevalence of preeclampsia/eclampsia was 8.3% (95%CI: 8.0-8.6. Preeclampsia/eclampsia associated with maternal age, education, marital status, parity, excessive weight gain and body mass index at the first antenatal visit. There was a dose-response relationship between the number of smoked cigarettes per day during pregnancy and the risk of preeclampsia/eclampsia (adjusted OR1-5 cig/day = 0.69 with 95%CI: 0.56-0.87; OR6-10 cig/day = 0.65 with 95%CI: 0.51-0.82; and OR≥11 cig/day = 0.49 with 95%CI: 0.30-0.81. There was no difference in this risk among women who smoked before and during pregnancy and those who did so before but not during pregnancy (adjusted OR = 1.10 with 95%CI: 0.91-1.32.Preeclampsia/eclampsia was associated with maternal age, education, marital status, parity, excessive weight gain, and body mass index at the first antenatal visit. There was a negative dose-response relationship between the number of smoked cigarettes per day during pregnancy and the odds of preeclampsia/eclampsia. However, women who gave up smoking during the first trimester of gestation had the same risk of

Clinical Case Registries (CCR)

Data.gov (United States)

Department of Veterans Affairs — The Clinical Case Registries (CCR) replaced the former Immunology Case Registry and the Hepatitis C Case Registry with local and national databases. The CCR:HIV and...

Declining trends in conception rates in recent birth cohorts of native Danish women: a possible role of deteriorating male reproductive health

DEFF Research Database (Denmark)

Jensen, Tina Kold; Sobotka, Thomás; Hansen, Martin A.

2008-01-01

lower TNCR and that in terms of their total fertility rate, the declining TNCR is compensated by an increasing use of ART. Our hypothesis of an ongoing birth cohort-related decline in fecundity was also supported by our finding of increasing and substantial use of ART in the management of infertility......Recent findings of poor semen quality among at least 20% of normal young men in Denmark prompted us to use unique Danish registers on births and induced abortions to evaluate a possible effect of the poor male fecundity on pregnancy rates among their presumed partners - the younger cohorts of women....... We have analysed data from the Danish birth and abortion registries as well as the Danish registry for assisted reproduction (ART) and defined a total natural conception rate (TNCR), which is equal to fertility rate plus induced abortion rate minus ART conception rate. A unique personal...

Declining trends in conception rates in recent birth cohorts of native Danish women: a possible role of deteriorating male reproductive health

DEFF Research Database (Denmark)

Jensen, T.K.; Sobotka, T.; Hansen, Marc Allan

2008-01-01

lower TNCR and that in terms of their total fertility rate, the declining TNCR is compensated by an increasing use of ART. Our hypothesis of an ongoing birth cohort-related decline in fecundity was also supported by our finding of increasing and substantial use of ART in the management of infertility......Recent findings of poor semen quality among at least 20% of normal young men in Denmark prompted us to use unique Danish registers on births and induced abortions to evaluate a possible effect of the poor male fecundity on pregnancy rates among their presumed partners--the younger cohorts of women....... We have analysed data from the Danish birth and abortion registries as well as the Danish registry for assisted reproduction (ART) and defined a total natural conception rate (TNCR), which is equal to fertility rate plus induced abortion rate minus ART conception rate. A unique personal...

[The possibility of registering in the Spanish Civil Registry children born abroad from surrogate mothers].

Science.gov (United States)

De Barrón Arniches, Paloma

2009-01-01

In the Spanish Civil Registry it is now possible to register "natural" children of a homosexual marriage born overseas through surrogate pregnancy. And this is despite article 10.1 of the current Spanish law regarding assisted human reproduction techniques, which declares fully null and void contracts renouncing maternal relationship, and orders imperatively that in these cases, the relationship of children is determined by birth. This article analyses and formulates a criticism regarding the Resolution of the Office of Registries and Notaries, of February 18, 2009, insisting on some relevant issues such as legal security and greater interest of the minor, in the context of the analysis of the facts of the case and the arguments put forward in the resolution.

Birth order and postpartum psychiatric disorders.

Science.gov (United States)

Munk-Olsen, Trine; Jones, Ian; Laursen, Thomas Munk

2014-05-01

Primiparity is a well-established and significant risk factor for postpartum psychosis and especially bipolar affective disorders. However, no studies have, to our knowledge, quantified the risk of psychiatric disorders after the first, second, or subsequent births. The overall aim of the present study was to study the risk of first-time psychiatric episodes requiring inpatient treatment after the birth of the first, second, or third child. A cohort comprising 750,127 women was defined using information from Danish population registries. Women were followed individually from the date of birth of their first, second, or third child through the following 12 months over the period 1970-2011. The outcome of interest was defined as first-time admissions to a psychiatric hospital with any type of psychiatric disorder. Women who had a first psychiatric episode which required inpatient treatment after their first (n = 1,327), second (n = 735), or third (n = 238) delivery were included. The highest risk was found in primiparous mothers 10-19 days postpartum [relative risk (RR) = 8.65; 95% confidence interval (CI): 6.89-10.85]. After the second birth, the highest risk was at 60-89 days postpartum (RR = 2.01; 95% CI: 1.52-2.65), and there was no increased risk after the third birth. The effect of primiparity was strongest for bipolar disorders. Primiparity is a significant risk factor for experiencing a first-time episode with a psychiatric disorder, especially bipolar disorders. A second birth was associated with a smaller risk, and there was no increased risk after the third birth. The risk of postpartum episodes after the second delivery increased with increasing inter-pregnancy intervals, a result which warrants further investigation. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The Western Denmark Heart Registry

DEFF Research Database (Denmark)

Schmidt, Morten; Maeng, Michael; Madsen, Morten

2018-01-01

The WDHR (Western Denmark Heart Registry) is a seminational, multicenter-based registry with longitudinal registration of detailed patient and procedure data since 1999. The registry includes as of January 1, 2017 approximately 240,000 coronary angiographies, 90,000 percutaneous coronary interven......The WDHR (Western Denmark Heart Registry) is a seminational, multicenter-based registry with longitudinal registration of detailed patient and procedure data since 1999. The registry includes as of January 1, 2017 approximately 240,000 coronary angiographies, 90,000 percutaneous coronary...

Temporal Trends in Fertility Rates: A Nationwide Registry Based Study from 1901 to 2014

OpenAIRE

Blomberg Jensen, Martin; Priskorn, L?rke; Jensen, Tina Kold; Juul, Anders; Skakkebaek, Niels Erik

2015-01-01

Objective Increasing age at first childbirth has been suggested to increase the risk for infertility. Our objective is to determine whether women above thirty years of age historically have been able to sustain fertility rates above replacement level. Design A descriptive nationwide Danish study using birth registries from 1901?2014. Setting Information on women?s age at childbirth was obtained by using records from primary, secondary and tertiary institutions. Participants Mothers to 8,024,9...

Occupational lifting during pregnancy and child's birth size in a large cohort study

DEFF Research Database (Denmark)

Juhl, Mette; Larsen, Pernille Stemann; Andersen, Per Kragh

2014-01-01

OBJECTIVES: It has been suggested that the handling of heavy loads during pregnancy is associated with impaired fetal growth. We examined the association between quantity and frequency of maternal occupational lifting and the child's size at birth, measured by weight, length, ponderal index, small......-for-gestational-age (SGA), abdominal circumference, head circumference, and placental weight. METHODS: We analyzed birth size from the Danish Medical Birth Registry of 66 693 live-born children in the Danish National Birth Cohort according to the mother's self-reported information on occupational lifting from telephone...... women with occupational lifting versus women with no lifting, but the differences were very small, and there was a statistically significant trend only for placental weight showing lighter weight with increasing number of kilos lifted per day. In jobs likely to include person-lifting, we found increased...

Socioeconomic position in early life, birth weight, childhood cognitive function, and adult mortality

DEFF Research Database (Denmark)

Osler, M; Andersen, A-M N; Due, P

2003-01-01

. The data were analysed using Cox regression. SETTING: The metropolitan area of Copenhagen, Denmark. SUBJECTS: 7493 male singletons born in 1953, who completed a questionnaire with various cognitive measures, in school at age 12 years, and for whom birth certificates with data on birth and parental...... with all cause mortality. The association between father's social class and mortality attenuated (HR(working class)1.30 (1.08 to 1.56); HR(unknown class)1.81 (1.30 to 2.52)) after control for birth weight and cognitive function. Mortality from cardiovascular diseases and violent deaths was also......OBJECTIVE: To examine the relation between socioeconomic position in early life and mortality in young adulthood, taking birth weight and childhood cognitive function into account. DESIGN: A longitudinal study with record linkage to the Civil Registration System and Cause of Death Registry...

Frequency of cardiac defects among children at echocardiography centre in a teaching hospital

International Nuclear Information System (INIS)

Malik, A.S.; Majeed, R.; Channer, M.S.; Saleem, M.I.

2010-01-01

Objective: To assess frequency of cardiac defects among children from birth to 12 years of age on each Methodology: A cross sectional study was conducted at echocardiography centre in coronary care unit at Bahawal Victoria Hby Paediatric Transthoracic echo probe; 2-D colour Doppler, Acuson CV-70 and Niemo-30 echocardiography machines. Mothers of children with cardiac defects were interviewed at the echocardiography centre. Variables included were A- Muscular plus Vascular defects; B- Valvular defects; C-Pericardial effusion; D- Dextrocardia and E- Congestive cardiac failure. History of children for sore throat followed by joint pains; history of mothers for drug intake (antihypertensive, antipyretic, anti-emetic, hypoglycaemic) as well as chronic diseases (diabetes mellitus, hypertension, anaemia) during pregnancy were surveyed. Parity of mothers, their cousin marriages, and family socio-economic status was also inquired. The results were tabulated, analyzed and finally subjected to suitable test of significant (SR of proportion) to find out statistical significant if any. Results: It was found that out of 150 patients, 76 (50.66%) were suffering from Cardiac muscular and Vascular defects, 61 (40.66%) Valvular defects, 7 (4.66%) Pericardial effusion, 2 (1.33%) Dextrocardia and 4 (2.66%) from Congestive Cardiac Failure. According to age, 54 (36%) were from birth to 3 years of age and 51 (34%) from 10 to 12 years. There was history of Rheumatic fever among 45 (30%) children. There were 106 (70.6%) children from lower socio-economic class and 79 (52.6%) parents had history of cousin marriages. Conclusion: Frequency of cardiac defects was more in children of male sex, lower socio-economic group, from birth to three years age and children from primipara mothers in our specified locality. Rheumatic fever, cousin's marriage, and prescribed drugs intake during pregnancy (for metabolic and hormonal disorders) were other contributors to cardiac defects. (author)

Lower birth weight and diet in Taiwanese girls more than boys predicts learning impediments.

Science.gov (United States)

Lee, Meei-Shyuan; Huang, Lin-Yuan; Chang, Yu-Hung; Huang, Susana Tzy-Ying; Yu, Hsiao-Li; Wahlqvist, Mark L

2012-01-01

Possible links between lower birth weight, childhood diet, and learning in Taiwan are evaluated. The population representative Elementary School Children's Nutrition and Health Survey in Taiwan 2001-2002 and the national birth registry were used to examine school and social performance using the modified Scale for Assessing Emotional Disturbance questionnaires in relation to diet quality by the Youth Healthy Eating Index-Taiwan and birth weight of children aged 6-13 years (n=2283). Lower birth weight (≤15th percentile: ≤2850 g for boys and ≤2700 g for girls) children were mostly from mountainous areas and of indigenous descent. Compared to normal birth weight, lower birth weight girls experienced greater inability to learn and weaker overall competence. Better diet quality predicted more favorable emotional and behavioral outcomes in lower birth weight girls, and this persisted with adjustment for covariates. None of these findings were evident among boys. Girls' cognitive and social development appears to be susceptible to diet quality and birth weight, such that the adverse risk of lower birth weight on school performance may be offset by improved diet. Copyright © 2012 Elsevier Ltd. All rights reserved.

National registry of hemoglobinopathies in Spain (REPHem).

Science.gov (United States)

Cela, Elena; Bellón, José M; de la Cruz, María; Beléndez, Cristina; Berrueco, Rubén; Ruiz, Anna; Elorza, Izaskun; Díaz de Heredia, Cristina; Cervera, Aurea; Vallés, Griselda; Salinas, J Antonio; Coll, M Teresa; Bermúdez, Mar; Prudencio, Marta; Argilés, Bienvenida; Vecilla, Cruz

2017-07-01

Although highly prevalent throughout the world, the accurate prevalence of hemoglobinopathies in Spain is unknown. This study presents data on the national registry of hemoglobinopathies of patients with thalassemia major (TM), thalassemia intermedia (TI), and sickle cell disease (SCD) in Spain created in 2014. Fifty centers reported cases retrospectively. Data were registered from neonatal screening or from the first contact at diagnosis until last follow-up or death. Data of the 715 eligible patients were collected: 615 SCD (497 SS, 64 SC, 54 SBeta phenotypes), 73 thalassemia, 9 CC phenotype, and 18 other variants. Most of the SCD patients were born in Spain (65%), and 51% of these were diagnosed at newborn screening. Median age at the first diagnosis was 0.4 years for thalassemia and 1.0 years for SCD. The estimated incidence was 0.002 thalassemia cases and 0.03 SCD cases/1,000 live births. Median age was 8.9 years (0.2-33.7) for thalassemia and 8.1 years (0.2-32.8) for SCD patients. Stroke was registered in 16 SCD cases. Transplantation was performed in 43 TM and 23 SCD patients at a median age of 5.2 and 7.8 years, respectively. Twenty-one patients died (3 TM, 17 SCD, 1 CC) and 200 were lost to follow-up. Causes of death were related to transplantation in three patients with TM and three patients with SCD. Death did not seem to be associated with SCD in six patients, but nine patients died secondary to disease complications. Overall survival was 95% at 15 years of age. The registry provides data about the prevalence of hemoglobinopathies in Spain and will permit future cohort studies and the possibility of comparison with other registries. © 2016 Wiley Periodicals, Inc.

Workload and time management in central cancer registries: baseline data and implication for registry staffing.

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Chapman, Susan A; Mulvihill, Linda; Herrera, Carolina

2012-01-01

The Workload and Time Management Survey of Central Cancer Registries was conducted in 2011 to assess the amount of time spent on work activities usually performed by cancer registrars. A survey including 39 multi-item questions,together with a work activities data collection log, was sent by email to the central cancer registry (CCR) manager in each of the 50 states and the District of Columbia. Twenty-four central cancer registries (47%) responded to the survey.Results indicate that registries faced reductions in budgeted staffing from 2008-2009. The number of source records and total cases were important indicators of workload. Four core activities, including abstracting at the registry, visual editing,case consolidation, and resolving edit reports, accounted for about half of registry workload. We estimate an average of 12.4 full-time equivalents (FTEs) are required to perform all cancer registration activities tracked by the survey; however,estimates vary widely by registry size. These findings may be useful for registries as a benchmark for their own registry workload and time-management data and to develop staffing guidelines.

Preeclampsia complicated by advanced maternal age: a registry-based study on primiparous women in Finland 1997–2008

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Lamminpää Reeta

2012-06-01

Full Text Available Abstract Background Preeclampsia is a frequent syndrome and its cause has been linked to multiple factors, making prevention of the syndrome a continuous challenge. One of the suggested risk factors for preeclampsia is advanced maternal age. In the Western countries, maternal age at first delivery has been steadily increasing, yet few studies have examined women of advanced maternal age with preeclampsia. The purpose of this registry-based study was to compare the obstetric outcomes in primiparous and preeclamptic women younger and older than 35 years. Methods The registry-based study used data from three Finnish health registries: Finnish Medical Birth Register, Finnish Hospital Discharge Register and Register of Congenital Malformations. The sample contained women under 35 years of age (N = 15,437 compared with those 35 and over (N = 2,387 who were diagnosed with preeclampsia and had their first singleton birth in Finland between 1997 and 2008. In multivariate modeling, the main outcome measures were Preterm delivery (before 34 and 37 weeks, low Apgar score (5 min., small-for-gestational-age, fetal death, asphyxia, Cesarean delivery, induction, blood transfusion and admission to a Neonatal Intensive Care Unit. Results Women of advanced maternal age (AMA exhibited more preeclampsia (9.4% than younger women (6.4%. They had more prior terminations (25 ( Conclusions Preeclampsia is more common in women with advanced maternal age. Advanced maternal age is an independent risk factor for adverse outcomes in first-time mothers with preeclampsia.

Review of patient registries in dermatology.

Science.gov (United States)

DiMarco, Gabriella; Hill, Dane; Feldman, Steven R

2016-10-01

Patient registries are datasets containing information on patients with a particular disease or patients who are undergoing a specific treatment. Our objective was to search for and catalog the types of registries being used in dermatology and investigate their characteristics and uses. We searched Google, the Registry of Patient Registries, Orphanet, and ClinicalTrials.gov to compile a list of dermatology disease registries. We also conducted a literature review on the uses of dermatology registries using PubMed. We identified 48 dermatology patient registries, with 23 distinct diseases represented. We also identified 11 registries used for postmarketing surveillance of skin disease. Our search was limited to registries in English. Registries are commonly used for the study of rare dermatologic diseases and for postsurveillance monitoring of systemic therapies in more common dermatologic diseases, such as psoriasis. Copyright © 2016 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.

Promise and peril: Dissemination of findings from studies of drugs used in pregnancy and their association with birth defects.

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Patrick, Stephen W; Cooper, William O

2015-08-01

When and how to publish birth defects research can be complex, especially in the context of drugs used in pregnancy. Such research frequently involves multiple stakeholders, including regulatory agencies. Researchers must balance the potential peril of an unnecessarily panicked populace versus the benefit of protecting the public's health. We use a case presentation and contemporary literature to highlight the potential tradeoffs that researchers must consider. We highlight important considerations including the public health impact, examining the likelihood of causality, understanding common considerations when using large data sources, the role of peer review and working in partnership with regulatory agencies. We suggest that plans for analyses, dissemination and risk communication are done best a priori and not post hoc. Rigorous research evaluating the impact of drugs used in pregnancy, coupled with effective dissemination strategies, has the potential improve outcomes for mothers and their infants for generations. © 2015 Wiley Periodicals, Inc.

Sex of the first-born and risk of preterm birth in the subsequent pregnancy

DEFF Research Database (Denmark)

Mortensen, Laust H; Nielsen, Henriette Svarre; Cnattingius, Sven

2011-01-01

BACKGROUND: Recent data suggest that the chance of successfully maintaining a pregnancy may be influenced by the sex of previously born children. We explored a possible relation between sex of the first-born infant and the risk of preterm birth in the second pregnancy. METHODS: Using data from...... the National Medical Birth Registries in Denmark 1980-2004 and Sweden 1980-2001, we selected all women whose first and second births were singleton and who had information on sex of first-born infant and gestational age for the second (Denmark, n = 393,686; Sweden, n = 603,282). Cox proportional hazards...... regression analysis was used to estimate the hazard ratio of preterm birth in the second pregnancy according to the sex of the first-born infant. RESULTS: Compared with women whose first baby was a girl, women with boys had an increased risk of preterm birth in a second pregnancy (hazard ratio = 1.10 [95...

Descriptive epidemiology of anophthalmia and microphthalmia, Hawaii, 1986-2001.

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Forrester, Mathias B; Merz, Ruth D

2006-03-01

Population-based epidemiologic data on anophthalmia and microphthalmia in the United States are limited and have come mainly from only a few states. The intent of this study was to report on the epidemiology of these eye defects. Cases were derived from a population-based birth defects registry in Hawaii and comprised all infants and fetuses with anophthalmia and microphthalmia who were delivered during 1986-2001. Anophthalmia and microphthalmia rates per 10,000 births were determined for selected factors, and comparisons were made by calculating the rate ratios and 95% confidence intervals (CIs). Ninety-six cases of anophthalmia and microphthalmia were identified, with a rate of 3.21 per 10,000 live births. The eye defects were isolated in 5 cases (5.2%), and 24 cases (25.0%) had confirmed chromosomal abnormalities. The risk of anophthalmia and microphthalmia varied over time and was significantly higher for live-born infants with low birth weights and gestational ages. The anophthalmia and microphthalmia rates also varied by maternal race/ethnicity, sex, and plurality, although these differences were not statistically significant. Anophthalmia and microphthalmia frequently occurred with other birth defects, and the rate was consistent with that found in the literature. The risk of defects differed significantly with time period, birth weight, and gestational age. The impact of many factors on anophthalmia and microphthalmia in Hawaii was frequently consistent with that reported elsewhere. Copyright 2006 Wiley-Liss, Inc.

Infectious exposure in the first years of life and risk of central nervous system tumours in children: analysis of birth order, childcare attendance and seasonality of birth.

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Schmidt, L S; Kamper-Jørgensen, M; Schmiegelow, K; Johansen, C; Lähteenmäki, P; Träger, C; Stokland, T; Grell, K; Gustafson, G; Kogner, P; Sehested, A; Schüz, J

2010-05-25

An infective, mostly viral basis has been found in different human cancers. To test the hypothesis of a possible infectious aetiology for central nervous system (CNS) tumours in children, we investigated the associations with proxy measures of exposure to infectious disease. In a large case-control study nested in the populations of Denmark, Norway, Sweden, and Finland of 4.4 million children, we studied the association of birth order and seasonal variation of birth with subsequent risk for CNS tumours. We identified 3983 children from the national cancer registries, and information on exposure was obtained from the high-quality national administrative health registries. We investigated the association between childcare attendance during the first 2 years of life and the risk for CNS tumours in a subset of Danish children with CNS tumours, using information from the Danish Childcare database. We observed no association between birth order and risk of CNS tumours overall (odds ratio (OR) for second born or later born vs first born, 1.03; 95% confidence interval (CI), 0.96-1.10) or by histological subgroup, and children with CNS tumours did not show a seasonal variation of birth that was distinct from that of the background population. Childcare attendance compared with homecare showed a slightly increased OR (1.29; 95% CI, 0.90-1.86) for CNS tumours, with the highest risk observed in children attending a crèche. The strongest association was observed for embryonal CNS tumours. We found no effect of age at enrolment or duration of enrolment in childcare. These results do not support the hypothesis that the burden of exposure to infectious disease in early childhood has an important role in the aetiology of paediatric CNS tumours.

Infectious exposure in the first years of life and risk of central nervous system tumours in children: analysis of birth order, childcare attendance and seasonality of birth

Science.gov (United States)

Schmidt, L S; Kamper-Jørgensen, M; Schmiegelow, K; Johansen, C; Lähteenmäki, P; Träger, C; Stokland, T; Grell, K; Gustafson, G; Kogner, P; Sehested, A; Schüz, J

2010-01-01

Background: An infective, mostly viral basis has been found in different human cancers. To test the hypothesis of a possible infectious aetiology for central nervous system (CNS) tumours in children, we investigated the associations with proxy measures of exposure to infectious disease. Methods: In a large case–control study nested in the populations of Denmark, Norway, Sweden, and Finland of 4.4 million children, we studied the association of birth order and seasonal variation of birth with subsequent risk for CNS tumours. We identified 3983 children from the national cancer registries, and information on exposure was obtained from the high-quality national administrative health registries. We investigated the association between childcare attendance during the first 2 years of life and the risk for CNS tumours in a subset of Danish children with CNS tumours, using information from the Danish Childcare database. Results: We observed no association between birth order and risk of CNS tumours overall (odds ratio (OR) for second born or later born vs first born, 1.03; 95% confidence interval (CI), 0.96–1.10) or by histological subgroup, and children with CNS tumours did not show a seasonal variation of birth that was distinct from that of the background population. Childcare attendance compared with homecare showed a slightly increased OR (1.29; 95% CI, 0.90–1.86) for CNS tumours, with the highest risk observed in children attending a crèche. The strongest association was observed for embryonal CNS tumours. We found no effect of age at enrolment or duration of enrolment in childcare. Conclusion: These results do not support the hypothesis that the burden of exposure to infectious disease in early childhood has an important role in the aetiology of paediatric CNS tumours. PMID:20461079

Safety of the Pandemic H1N1 Influenza Vaccine among Pregnant U.S. Military Women and Their Newborns

Science.gov (United States)

2013-03-01

copyediting. The authors appreciate the support of Eileen Hruska and the Defense Man- power Data Center, Seaside, California, with vaccine data access and...e33–40. 16. Ryan MA, Pershyn-Kisor MA, Honner WK, Smith TC, Reed RJ, Gray GC. The Department of Defense Birth Defects Registry: overview of a new

Weight at birth and subsequent fecundability: a prospective cohort study.

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Cathrine Wildenschild

Full Text Available To examine the association between a woman's birth weight and her subsequent fecundability.In this prospective cohort study, we included 2,773 Danish pregnancy planners enrolled in the internet-based cohort study "Snart-Gravid", conducted during 2007-2012. Participants were 18-40 years old at study entry, attempting to conceive, and were not receiving fertility treatment. Data on weight at birth were obtained from the Danish Medical Birth Registry and categorized as <2,500 grams, 2,500-2,999 grams, 3,000-3,999 grams, and ≥ 4,000 grams. In additional analyses, birth weight was categorized according to z-scores for each gestational week at birth. Time-to-pregnancy measured in cycles was used to compute fecundability ratios (FR and 95% confidence intervals (CI, using a proportional probabilities regression model.Relative to women with a birth weight of 3,000-3,999 grams, FRs adjusted for gestational age, year of birth, and maternal socio-demographic and medical factors were 0.99 (95% CI: 0.73;1.34, 0.99 (95% CI: 0.87;1.12, and 1.08 (95% CI: 0.94;1.24 for birth weight <2,500 grams, 2,500-2,999 grams, and ≥ 4,000 grams, respectively. Estimates remained unchanged after further adjustment for markers of the participant's mother's fecundability. We obtained similar results when we restricted to women who were born at term, and to women who had attempted to conceive for a maximum of 6 cycles before study entry. Results remained similar when we estimated FRs according to z-scores of birth weight.Our results indicate that birth weight appears not to be an important determinant of fecundability.

Variation in practice patterns in device closure of atrial septal defects and patent ductus arteriosus: An analysis of data from the IMproving Pediatric and Adult Congenital Treatment (IMPACT) registry.

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O'Byrne, Michael L; Kennedy, Kevin F; Rome, Jonathan J; Glatz, Andrew C

2018-02-01

Practice variation is a potentially important measure of healthcare quality. The IMPACT registry provides a representative national sample with which to study practice variation in trans-catheter interventions for congenital heart disease. We studied cases for closure of atrial septal defect (ASD) and patent ductus arteriosus (PDA) in IMPACT between January 1, 2011, and September 30, 2015, using hierarchical multivariate models studying (1) the distribution of indications for closure and (2) in patients whose indication for closure was left (LVVO) or right ventricular volume overload (RVVO), the factors influencing probability of closure of a small defect (either in size or in terms of the magnitude of shunt). Over the study period, 5233 PDA and 4459 ASD cases were performed at 77 hospitals. The indications for ASD closure were RVVO in 84% and stroke prevention in 13%. Indications for PDA closure were LVVO in 57%, endocarditis prevention in 36%, and pulmonary hypertension in 7%. There was statistically significant variability in indications between hospitals for PDA and ASD procedures (median rate ratio (MRR): 1.3 and 1.1; both Pclosure of PDA and ASD. Further research is necessary to study whether this affects outcomes or resource utilization. Copyright © 2017 Elsevier Inc. All rights reserved.

Maternal folic acid supplementation and dietary folate intake and congenital heart defects.

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Baohong Mao

Full Text Available It has been reported that folic acid supplementation before and/or during pregnancy could reduce the risk of congenital heart defects (CHDs. However, the results from limited epidemiologic studies have been inconclusive. We investigated the associations between maternal folic acid supplementation, dietary folate intake, and the risk of CHDs.A birth cohort study was conducted in 2010-2012 at the Gansu Provincial Maternity & Child Care Hospital in Lanzhou, China. After exclusion of stillbirths and multiple births, a total of 94 births were identified with congenital heart defects, and 9,993 births without any birth defects. Unconditional logistic regression was used to estimate the associations.Compared to non-users, folic acid supplement users before pregnancy had a reduced risk of overall CHDs (OR: 0.42, 95% CI: 0.21-0.86, Ptrend = 0.025 after adjusted for potential confounders. A protective effect was observed for certain subtypes of CHDs (OR: 0.37, 95% CI: 0.16-0.85 for malformation of great arteries; 0.26, 0.10-0.68 for malformation of cardiac septa; 0.34, 0.13-0.93 for Atrial septal defect. A similar protective effect was also seen for multiple CHDs (OR: 0.49, 95% CI: 0.26-0.93, Ptrend = 0.004. Compared with the middle quartiles of dietary folate intake, lower dietary folate intake (<149.88 μg/day during pregnancy were associated with increased risk of overall CHDs (OR: 1.63, 95% CI: 1.01-2.62 and patent ductus arteriosus (OR: 1.85, 95% CI: 1.03-3.32. Women who were non-user folic acid supplement and lower dietary folate intake have almost 2-fold increased CHDs risk in their offspring.Our study suggested that folic acid supplementation before pregnancy was associated with a reduced risk of CHDs, lower dietary folate intake during pregnancy was associated with increased risk. The observed associations varied by CHD subtypes. A synergistic effect of dietary folate intake and folic acid supplementation was also observed.

No excess risk of adverse birth outcomes in populations living near special waste landfill sites in Scotland.

Science.gov (United States)

Morris, S E; Thomson, A O; Jarup, L; de Hoogh, C; Briggs, D J; Elliott, P

2003-11-01

A recent study showed small excess risks of low birth weight, very low birth weight and certain congenital anomalies in populations living near landfill sites in Great Britain. The objective of the current study was to investigate the risk of adverse birth outcomes associated with residence near special waste landfill sites in Scotland. We studied risks of adverse birth outcomes in populations living within 2 km of 61 Scottish special waste landfill sites operational at some time between 1982 and 1997 compared with those living further away. 324,167 live births, 1,849 stillbirths, and 11,138 congenital anomalies (including terminations) were included in the study. Relative risks were computed for all congenital anomalies combined, some specific anomalies and prevalence of stillbirth and low and very low birth weight (special waste landfill sites was 0.96 (99% confidence interval 0.89 to 1.02) adjusted for confounders. Adjusted risks were 0.71 (0.36 to 1.42) for neural tube defects, 1.03 (0.85 to 1.26) for cardiovascular defects, 0.84 (0.58 to 1.22) for hypospadias and epispadias (with no excess of surgical corrections), 0.78 (0.27 to 2.23) for abdominal wall defects (1.32 (0.42-4.17) for hospital admissions), 1.22 (0.28 to 5.38) for surgical correction of gastroschisis and exomphalos and 1.01 (0.96 to 1.07) and 1.01 (0.90 to 1.15) for low and very low birth weight respectively. There was no excess risk of stillbirth. In conclusion, we found no statistically significant excess risks of congenital anomalies or low birth weight in populations living near special waste landfill sites in Scotland.

A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.

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Napier, Kathryn R; Tones, Megan; Simons, Chloe; Heussler, Helen; Hunter, Adam A; Cross, Meagan; Bellgard, Matthew I

2017-08-01

Angelman syndrome (AS) is a rare neurodevelopmental disorder that is characterised by severe global developmental delays, ataxia, loss of speech, epilepsy, sleep disorders, and a happy disposition. There is currently no cure for AS, though several pharmaceutical companies are anticipating drug trials for new therapies to treat AS. The Foundation for Angelman Therapeutics (FAST) Australia therefore identified a need for a global AS patient registry to identify patients for recruitment for clinical trials.The Global AS Registry was deployed in September 2016 utilising the Rare Disease Registry Framework, an open-source tool that enables the efficient creation and management of patient registries. The Global AS Registry is web-based and allows parents and guardians worldwide to register, provide informed consent, and enter data on individuals with AS. 286 patients have registered in the first 8 months since deployment.We demonstrate the successful deployment of the first patient-driven global registry for AS. The data generated from the Global AS Registry will be crucial in identifying patients suitable for clinical trials and in informing research that will identify treatments for AS, and ultimately improve the lives of individuals and their families living with AS.

Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.

Science.gov (United States)

Bourbon, Mafalda; Alves, Ana Catarina; Alonso, Rodrigo; Mata, Nelva; Aguiar, Pedro; Padró, Teresa; Mata, Pedro

2017-07-01

Familial hypercholesterolemia (FH) is an autosomal dominant disease of cholesterol metabolism that confers an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Therefore, early identification and treatment of these patients can improve prognosis and reduce the burden of cardiovascular mortality. The aim of this work was to perform the mutational analysis of the SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) registry. The study recruited 2938 individuals with genetic diagnosis of FH belonging to 775 families. Statistical analysis was performed using SPSS v23. A total of 194 variants have been detected in this study, 24 of them were never described before. About 88% of the patients have a pathogenic or likely pathogenic variant. Patients with null variants have a more severe phenotype than patients with defective variants, presenting with significantly higher levels of atherogenic particles (total cholesterol, LDL-cholesterol and apolipoprotein B). This study shows the molecular characteristics of the FH patients included in the SAFEHEART registry and the relationship with the phenotypic expression. The majority of the genetic variants are considered to be pathogenic or likely pathogenic, which confers a high level of confidence to the entry and follow-up data analysis performed with this registry concerning FH patients' prognosis, treatment and survival. Copyright © 2017 Elsevier B.V. All rights reserved.

Meta-analysis of individual registry results enhances international registry collaboration.

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Paxton, Elizabeth W; Mohaddes, Maziar; Laaksonen, Inari; Lorimer, Michelle; Graves, Stephen E; Malchau, Henrik; Namba, Robert S; Kärrholm, John; Rolfson, Ola; Cafri, Guy

2018-03-28

Background and purpose - Although common in medical research, meta-analysis has not been widely adopted in registry collaborations. A meta-analytic approach in which each registry conducts a standardized analysis on its own data followed by a meta-analysis to calculate a weighted average of the estimates allows collaboration without sharing patient-level data. The value of meta-analysis as an alternative to individual patient data analysis is illustrated in this study by comparing the risk of revision of porous tantalum cups versus other uncemented cups in primary total hip arthroplasties from Sweden, Australia, and a US registry (2003-2015). Patients and methods - For both individual patient data analysis and meta-analysis approaches a Cox proportional hazard model was fit for time to revision, comparing porous tantalum (n = 23,201) with other uncemented cups (n = 128,321). Covariates included age, sex, diagnosis, head size, and stem fixation. In the meta-analysis approach, treatment effect size (i.e., Cox model hazard ratio) was calculated within each registry and a weighted average for the individual registries' estimates was calculated. Results - Patient-level data analysis and meta-analytic approaches yielded the same results with the porous tantalum cups having a higher risk of revision than other uncemented cups (HR (95% CI) 1.6 (1.4-1.7) and HR (95% CI) 1.5 (1.4-1.7), respectively). Adding the US cohort to the meta-analysis led to greater generalizability, increased precision of the treatment effect, and similar findings (HR (95% CI) 1.6 (1.4-1.7)) with increased risk of porous tantalum cups. Interpretation - The meta-analytic technique is a viable option to address privacy, security, and data ownership concerns allowing more expansive registry collaboration, greater generalizability, and increased precision of treatment effects.

Conotruncal Heart Defect Repair in Sub-Saharan Africa: Remarkable Outcomes Despite Poor Access to Treatment.

Science.gov (United States)

Edwin, Frank; Entsua-Mensah, Kow; Sereboe, Lawrence A; Tettey, Mark M; Aniteye, Ernest A; Tamatey, Martin M; Adzamli, Innocent; Akyaa-Yao, Nana; Gyan, Kofi B; Ofosu-Appiah, Ernest; Kotei, David

2016-09-01

The outcome of children born with conotruncal heart defects may serve as an indication of the status of pediatric cardiac care in sub-Saharan Africa (SSA). This study was undertaken to determine the outcome of children born with conotruncal anomalies in SSA, regarding access to treatment and outcomes of surgical intervention. From our institution in Ghana, we retrospectively analyzed the outcomes of surgery, in the two-year period from June 2013 to May 2015. The birth prevalence of congenital heart defects (CHDs) in SSA countries was derived by extrapolation using an incidence of 8 per 1,000 live births for CHDs. The birth prevalence of CHDs for the 48 countries in SSA using 2013 country data was 258,875; 10% of these are presumed to be conotruncal anomalies. Six countries (Nigeria, Democratic Republic of the Congo, Ethiopia, Tanzania, Uganda, and Kenya) accounted for 53.5% of the birth prevalence. In Ghana, 20 patients (tetralogy of Fallot [TOF], 17; pulmonary atresia, 3) underwent palliation and 50 (TOF, 36; double-outlet right ventricle, 14) underwent repair. Hospital mortality was 0% for palliation and 4% for repair. Only 6 (0.5%) of the expected 1,234 cases of conotruncal defects underwent palliation or repair within two years of birth. Six countries in SSA account for more than 50% of the CHD burden. Access to treatment within two years of birth is probably <1%. The experience from Ghana demonstrates that remarkable surgical outcomes are achievable in low- to middle-income countries of SSA. © The Author(s) 2016.

Prevention of vitamin K deficiency bleeding in breastfed infants: lessons from the Dutch and Danish biliary atresia registries

DEFF Research Database (Denmark)

Hasselt, P.M. van; Koning, T.J. de; Vries, E. de

2008-01-01

OBJECTIVE: Newborns routinely receive vitamin K to prevent vitamin K deficiency bleeding. The efficacy of oral vitamin K administration may be compromised in infants with unrecognized cholestasis. We aimed to compare the risk of vitamin K deficiency bleeding under different prophylactic regimens...... in infants with biliary atresia. PATIENTS AND METHODS: From Dutch and Danish national biliary atresia registries, we retrieved infants who were either breastfed and received 1 mg of oral vitamin K at birth followed by 25 microg of daily oral vitamin K prophylaxis (Netherlands, 1991-2003), 2 mg of oral...... vitamin K at birth followed by 1 mg of weekly oral prophylaxis (Denmark, 1994 to May 2000), or 2 mg of intramuscular prophylaxis at birth (Denmark, June 2000-2005) or were fed by formula. We determined the absolute and relative risk of severe vitamin K deficiency and vitamin K deficiency bleeding...

Higher Rates of DZ Twinning in a Twenty-First Century Birth Cohort.

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Rhea, Sally Ann; Corley, Robin P; Heath, Andrew C; Iacono, William G; Neale, Michael C; Hewitt, John K

2017-09-01

The Colorado Twin Registry is a population based registry initiated in 1984 with the involvement of the Colorado Department of Health, Division of Vital Statistics. Recruitment includes birth cohorts several years prior to 1984 and all subsequent years. As part of a recent evaluation of Colorado birth records for the years 2006 through 2008 we became aware of a shifting trend in the proportion of MZ and DZ twins in the Colorado population. Historically (Bulmer 1970 The biology of twinning in man, Clarendon, Oxford) we have expected a 1/3, 1/3, 1/3 ratio of MZ, same-sex DZ and opposite sex DZ twins in Caucasian populations. An excess of MZ pairs in most studies was assumed to be due to selection bias. Somewhat more recently, Hur et al.(1995 Behav Genet 25, 337-340) provided evidence that the DZ twinning rate was falling and that therefore selection bias was not the reason for higher MZ enrollment in most twin studies. They suggested that twin researchers might consider strategies to over-enroll DZ pairs to maximize statistical power. In contrast, we now find that of the 3217 twin births in Colorado from 2006 to 2008 with identified sex information the MZ rate is estimated at only 22%, and we have corroborating reports from other states of similar estimates. These were calculated applying Weinberg's rule which assumes an equal birth rate for same sex and opposite sex DZ pairs so that the proportion of MZ in a sample is the proportion of same sex (MM + FF) minus the proportion of opposite-sex (MF, FM). We explore factors, such as an increase in the proportion of non-Caucasian parents and an increase in average maternal age, which may contribute to this shift.

Birth weight, sex, and celiac disease: a nationwide twin study

Directory of Open Access Journals (Sweden)

Kuja-Halkola R

2017-11-01

Full Text Available Ralf Kuja-Halkola,1 Benjamin Lebwohl,1,2 Jonas Halfvarson,3 Louise Emilsson,4–6 Patrik K Magnusson,1 Jonas F Ludvigsson1,2,7,8 1Department Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; 2Department of Medicine, Celiac Disease Center, Columbia University Medical Center, Columbia University, New York, NY, USA; 3Department of Gastroenterology, Faculty of Medicine and Health, Örebro University, Örebro, Sweden; 4Department of Health Management and Health Economy, Institute of Health and Society, University of Oslo, Oslo, Norway; 5Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA; 6Centre for Clinical Research, Vårdcentralen Värmlands Nysäter, County Council of Värmland, Värmland, 7Department of Pediatrics, Örebro University Hospital, Örebro, Sweden; 8Division of Epidemiology and Public Health, School of Medicine, City Hospital, University of Nottingham, Nottingham, UK Objective: Earlier research suggests that birth weight may be associated with celiac disease (CD, but the direction of association has been unclear potentially due to confounding effect from genetic and intrafamilial factors. Through within-twin analyses, we aimed to minimize confounding effects such as twins that share genetic and early environmental exposures.Materials and methods: Using the Swedish Twin Registry, we examined the birth weight of 146,830 twins according to the CD status. CD was defined as having villous atrophy according to a small intestinal biopsy reports.Results: The prevalence of diagnosed CD was 0.5% (n=669, and we included 407 discordant pairs of CD–non-CD twins. Comparing the 669 CD patients with non-CD twins, the association between birth weight and future CD was not statistically significant (odds ratio [OR] per 1000 g increase in birth weight: 1.16; 95% confidence interval [CI]=0.97–1.38. In males, the association was positive and statistically significant (OR=1.50; 95% CI

Converged Registries Solution (CRS)

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Department of Veterans Affairs — The Converged Registries platform is a hardware and software architecture designed to host individual patient registries and eliminate duplicative development effort...

Adult congenital heart disease in Greece: Preliminary data from the CHALLENGE registry.

Science.gov (United States)

Giannakoulas, G; Vasiliadis, K; Frogoudaki, A; Ntellos, C; Tzifa, A; Brili, S; Manginas, A; Papaphylactou, M; Parcharidou, D; Kampouridis, N; Pitsis, A; Chamaidi, A; Kolios, M; Papadopoulos, G; Douras, A; Davlouros, P; Ntiloudi, D; Karvounis, H; Kalangos, A; Tsioufis, C; Rammos, S

2017-10-15

The majority of patients with congenital heart disease (CHD), nowadays, survives into adulthood and is faced with long-term complications. We aimed to study the basic demographic and clinical characteristics of adult patients with congenital heart disease (ACHD) in Greece. A registry named CHALLENGE (Adult Congenital Heart Disease Registry. A registry from Hellenic Cardiology Society) was initiated in January 2012. Patients with structural CHD older than 16years old were enrolled by 16 specialized centers nationwide. Out of a population of 2115 patients with ACHD, who have been registered, (mean age 38years (SD 16), 52% women), 47% were classified as suffering from mild, 37% from moderate and 15% from severe ACHD. Atrial septal defect (ASD) was the most prevalent diagnosis (33%). The vast majority of ACHD patients (92%) was asymptomatic or mildly symptomatic (NYHA class I/II). The most symptomatic patients were suffering from an ASD, most often the elderly or those under targeted therapy for pulmonary arterial hypertension. Elderly patients (>60years old) accounted for 12% of the ACHD population. Half of patients had undergone at least one open-heart surgery, while 39% were under cardiac medications (15% under antiarrhythmic drugs, 16% under anticoagulants, 16% under medications for heart failure and 4% under targeted therapy for pulmonary arterial hypertension). ACHD patients are an emerging patient population and national prospective registries such as CHALLENGE are of unique importance in order to identify the ongoing needs of these patients and match them with the appropriate resource allocation. Copyright © 2017 Elsevier B.V. All rights reserved.

Birth order and risk of childhood cancer: a pooled analysis from five US States.

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Von Behren, Julie; Spector, Logan G; Mueller, Beth A; Carozza, Susan E; Chow, Eric J; Fox, Erin E; Horel, Scott; Johnson, Kimberly J; McLaughlin, Colleen; Puumala, Susan E; Ross, Julie A; Reynolds, Peggy

2011-06-01

The causes of childhood cancers are largely unknown. Birth order has been used as a proxy for prenatal and postnatal exposures, such as frequency of infections and in utero hormone exposures. We investigated the association between birth order and childhood cancers in a pooled case-control dataset. The subjects were drawn from population-based registries of cancers and births in California, Minnesota, New York, Texas and Washington. We included 17,672 cases confidence intervals using logistic regression, adjusted for sex, birth year, maternal race, maternal age, multiple birth, gestational age and birth weight. Overall, we found an inverse relationship between childhood cancer risk and birth order. For children in the fourth or higher birth order category compared to first-born children, the adjusted OR was 0.87 (95% CI: 0.81, 0.93) for all cancers combined. When we examined risks by cancer type, a decreasing risk with increasing birth order was seen in the central nervous system tumors, neuroblastoma, bilateral retinoblastoma, Wilms tumor and rhabdomyosarcoma. We observed increased risks with increasing birth order for acute myeloid leukemia but a slight decrease in risk for acute lymphoid leukemia. These risk estimates were based on a very large sample size, which allowed us to examine rare cancer types with greater statistical power than in most previous studies, however the biologic mechanisms remain to be elucidated. Copyright © 2010 UICC.

Review of U.S. registries for psoriasis.

Science.gov (United States)

Amin, Mina; No, Daniel J; Wu, Jashin J

2017-12-01

Patient registries are databases comprised of standardized clinical data for a specific population of patients with a particular disease or medical condition. Information from patient registries allows clinicians to assess long-lasting outcomes in patients with a specific disease, such as psoriasis. Our primary objective was to identify available psoriasis registries in the United States (U.S.) and evaluate the application of patient registries compared to clinical trials. We searched Google, the Registry of Patient Registries, Orphanet and ClinicalTrials.gov to create a list of U.S. psoriasis registries. We also performed a literature review on the application of psoriasis registries using PubMed. We identified 6 psoriasis patient registries in the United States. Patient registries are frequently used for psoriasis in the U.S. and provide important information about the safety, efficacy and long-term effects of systemic therapies.

Congenital hydrocephalus - prevalence, prenatal diagnosis and outcome of pregnancy in four European regions

DEFF Research Database (Denmark)

Garne, Ester; Loane, Maria; Addor, Marie-Claude

2009-01-01

OBJECTIVE: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. METHODS: Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include...... defects were not included in the study. RESULTS: Eighty-seven cases with congenital hydrocephalus were identified during the study period giving an overall prevalence of 4.65 per 10,000 births. There were 41 livebirths (47%), four fetal deaths (5%) and 42 TOPFA (48%). Nine percent of all cases were from...

Congenital heart defects and extracardiac malformations.

Science.gov (United States)

Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

Understanding the role of violence as a social determinant of preterm birth.

Science.gov (United States)

Masho, Saba W; Cha, Susan; Chapman, Derek A; Chelmow, David

2017-02-01

Preterm birth is one of the leading causes of infant morbidity and mortality. Although major strides have been made in identifying risk factors for preterm birth, the complexities between social and individual risk factors are not well understood. This study examines the association between neighborhood youth violence and preterm birth. A 10-year live birth registry data set (2004 through 2013) from Richmond, VA, a mid-sized, racially diverse city, was analyzed (N = 27,519). Data were geocoded and merged with census tract and police report data. Gestational age at birth was classified as rates were calculated for each census tract area and categorized into quartiles. Hierarchical models were examined fitting multilevel logistic regression models incorporating randomly distributed census tract-specific intercepts assuming a binary distribution and a logit link function. Nearly a fifth of all births occurred in areas with the highest quartiles of violence. After adjusting for maternal age, race/ethnicity, education, paternal presence, parity, adequacy of prenatal care, pregnancy complications, history of preterm birth, insurance, and tobacco, alcohol, and drug use, census tracts with the highest level of violence had 38% higher odds of very preterm births (adjusted odds ratio, 1.38; 95% confidence interval, 1.06-1.80), than census tracts with the lowest level of violence. There is an association between high rate of youth violence and very preterm birth. Findings from this study may help inform future research to develop targeted interventions aimed at reducing community violence and very preterm birth in vulnerable populations. Copyright © 2016 Elsevier Inc. All rights reserved.

Neonatal Outcomes in the Birth Center Setting: A Systematic Review.

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Phillippi, Julia C; Danhausen, Kathleen; Alliman, Jill; Phillippi, R David

2018-01-01

This systematic review investigates the effect of the birth center setting on neonatal mortality in economically developed countries to aid women and clinicians in decision making. We searched the Google Scholar, CINAHL, and PubMed databases using key terms birth/birthing center or out of hospital with perinatal/neonatal outcomes. Ancestry searches identified additional studies, and an alert was set for new publications. We included primary source studies in English, published after 1980, conducted in a developed country, and researching planned birth in centers with guidelines similar to American Association of Birth Centers standards. After initial review, we conducted a preliminary analysis, assessing which measures of neonatal health, morbidity, and mortality were included across studies. Neonatal mortality was selected as the sole summary measure as other measures were sporadically reported or inconsistently defined. Seventeen studies were included, representing at least 84,500 women admitted to a birth center in labor. There were substantial differences of study design, sampling techniques, and definitions of neonatal outcomes across studies, limiting conclusive statements of the effect of intrapartum care in a birth center. No reviewed study found a statistically increased rate of neonatal mortality in birth centers compared to low-risk women giving birth in hospitals, nor did data suggest a trend toward higher neonatal mortality in birth centers. As in all birth settings, nulliparous women, women aged greater than 35 years, and women with pregnancies of more than 42 weeks' gestation may have an increased risk of neonatal mortality. There are substantial flaws in the literature concerning the effect of birth center care on neonatal outcomes. More research is needed on subgroups at risk of poor outcomes in the birth center environment. To expedite research, consistent use of national and international definitions of perinatal and neonatal mortality within

Risk of adverse birth outcomes in populations living near landfill sites

Science.gov (United States)

Elliott, Paul; Briggs, David; Morris, Sara; de Hoogh, Cornelis; Hurt, Christopher; Jensen, Tina Kold; Maitland, Ian; Richardson, Sylvia; Wakefield, Jon; Jarup, Lars

2001-01-01

Objective To investigate the risk of adverse birth outcomes associated with residence near landfill sites in Great Britain. Design Geographical study of risks of adverse birth outcomes in populations living within 2 km of 9565 landfill sites operational at some time between 1982 and 1997 (from a total of 19 196 sites) compared with those living further away. Setting Great Britain. Subjects Over 8.2 million live births, 43 471 stillbirths, and 124 597 congenital anomalies (including terminations). Main outcome measures All congenital anomalies combined, some specific anomalies, and prevalence of low and very low birth weight (<2500 g and <1500 g). Results For all anomalies combined, relative risk of residence near landfill sites (all waste types) was 0.92 (99% confidence interval 0.907 to 0.923) unadjusted, and 1.01 (1.005 to 1.023) adjusted for confounders. Adjusted risks were 1.05 (1.01 to 1.10) for neural tube defects, 0.96 (0.93 to 0.99) for cardiovascular defects, 1.07 (1.04 to 1.10) for hypospadias and epispadias (with no excess of surgical correction), 1.08 (1.01 to 1.15) for abdominal wall defects, 1.19 (1.05 to 1.34) for surgical correction of gastroschisis and exomphalos, and 1.05 (1.047 to 1.055) and 1.04 (1.03 to 1.05) for low and very low birth weight respectively. There was no excess risk of stillbirth. Findings for special (hazardous) waste sites did not differ systematically from those for non-special sites. For some specific anomalies, higher risks were found in the period before opening compared with after opening of a landfill site, especially hospital admissions for abdominal wall defects. Conclusions We found small excess risks of congenital anomalies and low and very low birth weight in populations living near landfill sites. No causal mechanisms are available to explain these findings, and alternative explanations include data artefacts and residual confounding. Further studies are needed to help differentiate between the various

Increasing incidence of testicular cancer--birth cohort effects.

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Ekbom, A; Akre, O

1998-01-01

The incidence of testicular cancer is rising in most Western populations. A collaborative study between nine population-based cancer registries in countries around the Baltic Sea was utilized in order to analyze in detail geographic variations and temporal trends in the occurrence of testicular cancer. There were 34,309 cases registered up until 1989 starting in Denmark in 1942 and most recently in Latvia in 1977. From the descriptive epidemiology it was obvious that there was a substantial variation in the age-standardized incidence amounting to about a 10-fold difference between the different countries ranging from 0.8 per 100,000 person-years in Lithuania to 7.6 per 100,000 person-years in Denmark. Previous studies have indicated that this increase is due to birth cohort effects. A more detailed analysis was therefore performed in those six countries with a sufficiently long period of cancer registration; Poland, former East Germany, Norway, Finland, Denmark and Sweden. This analysis showed that birth cohort is a more important determinant of testicular cancer risk than year of diagnosis. In Poland, former East Germany and Finland, there was an increasing risk for all birth cohorts. Among men born in Denmark, Norway or Sweden between 1930 and 1945, this increasing trend in risk was interrupted in these birth cohorts but followed thereafter by an uninterrupted increase by birth cohort. In conclusion, life time exposure to environmental factors which are associated with the incidence of testicular cancer appear to be more related to birth cohort than to year of diagnosis. Because testicular cancer typically occurs at an early age, major etiological factors therefore need to operate early in life, perhaps even in utero.

Paternal occupational exposure to radiofrequency electromagnetic fields and risk of adverse pregnancy outcome

International Nuclear Information System (INIS)

Mjoen, Geir; Saetre, Dag Ottar; Lie, Rolv T.; Tynes, Tore; Blaasaas, Karl Gerhard; Hannevik, Merete; Irgens, Lorentz M.

2006-01-01

Background:During the last decades, public concern that radiofrequency radiation (RFR) may be related to adverse reproductive outcomes has been emerging. Our objective was to assess associations between paternal occupational exposure to RFR and adverse pregnancy outcomes including birth defects using population-based data from Norway.Methods:Data on reproductive outcomes derived from the Medical Birth Registry of Norway were linked with data on paternal occupation derived from the general population censuses. An expert panel categorized occupations according to exposure. Using logistic regression, we analyzed 24 categories of birth defects as well as other adverse outcomes.Results:In the offspring of fathers most likely to have been exposed, increased risk was observed for preterm birth (odds ratio (OR): 1.08, 95% confidence interval (CI): 1.03, 1.15). In this group we also observed a decreased risk of cleft lip (OR: 0.63, 95% CI: 0.41, 0.97). In the medium exposed group, we observed increased risk for a category of ,other defects' (OR: 2.40, 95% CI: 1.22, 4.70), and a decreased risk for a category of ,other syndromes' (OR: 0.75, 95% CI: 0.56, 0.99) and upper gastrointestinal defects (OR: 0.61, 95% CI: 0.40, 0.93).Conclusion:The study is partly reassuring for occupationally exposed fathers

Season and preterm birth in Norway: A cautionary tale.

Science.gov (United States)

Weinberg, Clarice R; Shi, Min; DeRoo, Lisa A; Basso, Olga; Skjærven, Rolv

2015-06-01

Preterm birth is a common, costly and dangerous pregnancy complication. Seasonality of risk would suggest modifiable causes. We examine seasonal effects on preterm birth, using data from the Medical Birth Registry of Norway (2,321,652 births), and show that results based on births are misleading and a fetuses-at-risk approach is essential. In our harmonic-regression Cox proportional hazards model we consider fetal risk of birth between 22 and 37 completed weeks of gestation. We examine effects of both day of year of conception (for early effects) and day of ongoing gestation (for seasonal effects on labour onset) as modifiers of gestational-age-based risk. Naïve analysis of preterm rates across days of birth shows compelling evidence for seasonality (P distribution of the fetal population at risk. When we instead properly treat fetuses as the individuals at risk, restrict analysis to pregnancies with relatively accurate ultrasound-based assessment of gestational age (available since 1998) and adjust for socio-demographic factors and maternal smoking, we find modest effects of both time of year of conception and time of year at risk, with peaks for early preterm near early January and early July. Analyses of seasonal effects on preterm birth are demonstrably vulnerable to confounding by seasonality of conception, measurement error in conception dating, and socio-demographic factors. The seasonal variation based on fetuses reveals two peaks for early preterm, coinciding with New Year's Day and the early July beginning of Norway's summer break, and may simply reflect a holiday-related pattern of unintended conception. Published by Oxford University Press on behalf of the International Epidemiological Association 2015. This work is written by a US Government employee and is in the public domain in the US.

Predicting congenital heart defects: A comparison of three data mining methods.

Directory of Open Access Journals (Sweden)

Yanhong Luo

Full Text Available Congenital heart defects (CHD is one of the most common birth defects in China. Many studies have examined risk factors for CHD, but their predictive abilities have not been evaluated. In particular, few studies have attempted to predict risks of CHD from, necessarily unbalanced, population-based cross-sectional data. Therefore, we developed and validated machine learning models for predicting, before and during pregnancy, women's risks of bearing children with CHD. We compared the results of these models in a large-scale, comprehensive population-based retrospective cross-sectional epidemiological survey of birth defects in six counties in Shanxi Province, China, covering 2006 to 2008. This contained 78 cases of CHD among 33831 live births. We constructed nine synthetic variables to use in the models: maternal age, annual per capita income, family history, maternal history of illness, nutrition and folic acid deficiency, maternal illness in pregnancy, medication use in pregnancy, environmental risk factors in pregnancy, and unhealthy maternal lifestyle in pregnancy. The machine learning algorithms Weighted Support Vector Machine (WSVM and Weighted Random Forest (WRF were trained on, and a logistic regression (Logit was fitted to, two-thirds of the data. Their predictive abilities were then tested in the remaining data. True positive rate (TPR, true negative rate (TNR, accuracy (ACC, area under the curves (AUC, G-means, and Weighted accuracy (WTacc were used to compare the classification performance of the models. Median values, from repeating the data partitioning 1000 times, were used in all comparisons. The TPR and TNR of the three classifiers were above 0.65 and 0.93, respectively, better than any reported in the literature. TPR, wtACC, AUC and G were highest for WSVM, showing that it performed best. All three models are precise enough to identify groups at high risk of CHD. They should all be considered for future investigations of other

[Incidence of cervical cancer in women in North-Holland by country of birth from 1988-1998].

Science.gov (United States)

Visser, O; Busquet, E H; van Leeuwen, F E; Aaronson, N K; Ory, F G

2003-01-11

To describe the incidence of cervical cancer in women in North-Holland by country of birth. Descriptive epidemiological study based on data from cancer registries. The number of cases of cervical cancer in North-Holland for the period 1988-1998 was determined using data from the regional cancer registry of the Comprehensive Cancer Centre, Amsterdam. Based on data from the Netherlands Cancer Registry, a comparison was made between the observed (O) and the expected (E) number of cases by area of residence (i.e., Amsterdam versus the rest of North-Holland) and by the woman's country of birth. In the period 1988-1998, the incidence of cervical cancer among women living in North-Holland was significantly higher than that of the nation as a whole (O/E-ratio: 1.2; 95% CI: 1.1-1.2). In particular, the incidence of cervical cancer for women living in Amsterdam (O/E-ratio: 1.5; 95% CI: 1.4-1.6), and for women born in Morocco (O/E-ratio: 2.1; 95% CI: 1.4-3.1) or Surinam (O/E-ratio: 1.5; 95% CI: 1.1-2.0) was much higher. The country of birth was unknown in 10% of the women. The percentage of patients with extension of the disease outside the uterus (TNM-stages II-IV) did not differ between women born in the Netherlands and those born abroad. The incidence of cervical cancer during the period 1988-1998 was significantly higher for women living in Amsterdam and for women born in Morocco or Surinam than that for the Netherlands as a whole. No significant difference in stage of disease at diagnosis was observed between women born in the Netherlands versus those born abroad.

Nordic registry-based cohort studies: Possibilities and pitfalls when combining Nordic registry data.

Science.gov (United States)

Maret-Ouda, John; Tao, Wenjing; Wahlin, Karl; Lagergren, Jesper

2017-07-01

All five Nordic countries (Denmark, Finland, Iceland, Norway and Sweden) have nationwide registries with similar data structure and validity, as well as personal identity numbers enabling linkage between registries. These resources provide opportunities for medical research that is based on large registry-based cohort studies with long and complete follow-up. This review describes practical aspects, opportunities and challenges encountered when setting up all-Nordic registry-based cohort studies. Relevant articles describing registries often used for medical research in the Nordic countries were retrieved. Further, our experiences of conducting this type of study, including planning, acquiring permissions, data retrieval and data cleaning and handling, and the possibilities and challenges we have encountered are described. Combining data from the Nordic countries makes it possible to create large and powerful cohorts. The main challenges include obtaining all permissions within each country, usually in the local language, and retrieving the data. These challenges emphasise the importance of having experienced collaborators within each country. Following the acquisition of data, data management requires the understanding of the differences between the variables to be used in the various countries. A concern is the long time required between initiation and completion. Nationwide Nordic registries can be combined into cohorts with high validity and statistical power, but the considerable expertise, workload and time required to complete such cohorts should not be underestimated.

Birth weight and order as risk factors for childhood central nervous system tumors.

Science.gov (United States)

MacLean, Jane; Partap, Sonia; Reynolds, Peggy; Von Behren, Julie; Fisher, Paul Graham

2010-09-01

To determine whether birth characteristics related to maternal-fetal health in utero are associated with the development of childhood central nervous system tumors. We identified, from the California Cancer Registry, 3733 children under age 15 diagnosed with childhood central nervous system tumors between 1988 and 2006 and linked these cases to their California birth certificates. Four controls per case, matched on birth date and sex, were randomly selected from the same birth files. We evaluated associations of multiple childhood CNS tumor subtypes with birth weight and birth order. Low birth weight was associated with a reduced risk of low-grade gliomas (OR=0.67; 95% CI, 0.46 to 0.97) and high birth weight was associated with increased risk of high-grade gliomas (OR=1.57; 95% CI, 1.16 to 2.12). High birth order (fourth or higher) was associated with decreased risk of low-grade gliomas (OR=0.75; 95% CI, 0.56 to 0.99) and increased risk of high-grade gliomas (OR=1.32; 95% CI, 1.01 to 1.72 for second order). Factors that drive growth in utero may increase the risk of low-grade gliomas. There may be a similar relationship in high-grade gliomas, although other factors, such as early infection, may modify this association. Additional investigation is warranted to validate and further define these findings. Copyright (c) 2010 Mosby, Inc. All rights reserved.

Nitrosatable Drug Exposure during Pregnancy and Preterm and Small-for-Gestational-Age Births.

Science.gov (United States)

Vuong, Ann M; Shinde, Mayura U; Brender, Jean D; Shipp, Eva M; Huber, John C; Zheng, Qi; McDonald, Thomas J; Sharkey, Joseph R; Hoyt, Adrienne T; Werler, Martha M; Kelley, Katherine E; Langlois, Peter H; Canfield, Mark A

2015-01-01

Nitrosatable drugs react with nitrite in the stomach to form N-nitroso compounds, observed in animal models to result in adverse pregnancy outcomes, such as birth defects and reduced fetal weight. Previous studies examining prenatal exposure to medications classified as nitrosatable have reported an increased risk of preterm births (PTBs) and small-for-gestational-age (SGA) infants. Using data from mothers (controls) of babies without major birth defects from the National Birth Defects Prevention Study, prenatal nitrosatable drug usage by trimester and month of gestation was examined in relation to PTBs and SGA infants. Positive associations were observed with nitrosatable drug use and PTBs, with the strongest relationship with second trimester exposure (adjusted hazard ratio [aHR] 1.37, [95% confidence interval (CI) 1.10, 1.70]). Of the nitrosatable functional groups, secondary amines were the most notable, with a higher association among women with second (aHR 1.37, [95% CI 1.05, 1.79]) and third (aHR 1.34, [95% CI 1.02, 1.76]) trimester exposure compared with women with no prenatal nitrosatable drug use. Among SGA infants, a borderline association was noted with amide exposure during the third trimester (adjusted odds ratio 1.43 [95% confidence interval [CI] 1.00, 2.05]). Prenatal exposure to nitrosatable drugs during the second and third trimester of pregnancy, particularly secondary amines, might increase the risk of PTBs. However, prenatal exposure to nitrosatable drugs was not associated with SGA infants, with the exception of amide drugs. © 2014 John Wiley & Sons Ltd.

The EuroMyositis registry

DEFF Research Database (Denmark)

Lilleker, James B; Vencovsky, Jiri; Wang, Guochun

2018-01-01

AIMS: The EuroMyositis Registry facilitates collaboration across the idiopathic inflammatory myopathy (IIM) research community. This inaugural report examines pooled Registry data. METHODS: Cross-sectional analysis of IIM cases from 11 countries was performed. Associations between clinical subtyp...

Danish Hip Arthroscopy Registry

DEFF Research Database (Denmark)

Mygind-Klavsen, Bjarne; Grønbech Nielsen, Torsten; Maagaard, Niels

2016-01-01

Danish Hip Arthroscopy Registry (DHAR) was initiated in 2012 as a web-based prospective registry. The purpose of this study was to evaluate and report the epidemiologic and perioperative data of the first 2000 procedures in a Danish hip arthroscopy population and to describe the development of DHAR...... was 0.65 and HAGOS sub-scores were 51 (pain), 49 (symptoms), 53 (ADL), 35 (sport), 20 (physical activity) and 29, respectively. We conclude that patients undergoing hip arthroscopy report considerable pain, loss of function, reduced level of activity and reduced quality-of-life prior to surgery....... The problems with development and maintaining a large clinical registry are described and further studies are needed to validate data completeness. We consider the development of a national clinical registry for hip arthroscopy as a successful way of developing and maintaining a valuable clinical...

Iranian Joint Registry(Iranian National Hip and Knee Arthroplasty Registry

Directory of Open Access Journals (Sweden)

Hamidreza Aslani

2016-04-01

Full Text Available Periodic evaluation and monitoring the health and economic outcome of joint replacement surgery is a common and popular process under the territory of joint registries in many countries. In this article we introduce the methodology used for the foundation of the National Iranian Joint Registry (IJR with a joint collaboration of the Social Security Organization (SSO and academic research departments considering the requirements of the Iran’s Ministry of Health and Education.

[Types of medical registries - definitions, methodological aspects and quality of the scientific work with registries].

Science.gov (United States)

Mathis-Edenhofer, Stefan; Piso, Brigitte

2011-12-01

This work presents a comprehensive list of registry definitions including broader and narrower definitions. Compared to each other different methodological issues can be identified. Some of these issues are common for all registry types; some can be assigned more easily to a specific registry type. Instruments for evaluating the quality of registers reflect many of the mentioned aspects. Generally, and especially at registers with a descriptive or exploratory research dimension it is important to consider their intended purpose and in about it was achieved. This includes, for instance, whether the purpose and the methodology are coordinated. From the start of registration an initiator should be - based on the purpose - aware of the methodological dimension of the registry. This helps to apply the correct type of the registry, the appropriate guidance and, ultimately, the arguments for the effort (cost-benefit ratio).

A study on limb reduction defects in six European regions

NARCIS (Netherlands)

Stoll, C; Calzolari, E; Cornel, M; GarciaMinaur, S; Garne, E; Nevin, N

1996-01-01

Limb reduction defects (LRD) gained especial attention after the thalidomide tragedy in 1962, LRD are common congenital malformations which present as obvious congenital anomalies recognized at birth, Therefore it might be assumed that they are well documented, However classification of LRDs is

Immunization registries in the EMR Era

Science.gov (United States)

Stevens, Lindsay A.; Palma, Jonathan P.; Pandher, Kiran K.; Longhurst, Christopher A.

2013-01-01

Background: The CDC established a national objective to create population-based tracking of immunizations through regional and statewide registries nearly 2 decades ago, and these registries have increased coverage rates and reduced duplicate immunizations. With increased adoption of commercial electronic medical records (EMR), some institutions have used unidirectional links to send immunization data to designated registries. However, access to these registries within a vendor EMR has not been previously reported. Purpose: To develop a visually integrated interface between an EMR and a statewide immunization registry at a previously non-reporting hospital, and to assess subsequent changes in provider use and satisfaction. Methods: A group of healthcare providers were surveyed before and after implementation of the new interface. The surveys addressed access of the California Immunization Registry (CAIR), and satisfaction with the availability of immunization information. Information Technology (IT) teams developed a “smart-link” within the electronic patient chart that provides a single-click interface for visual integration of data within the CAIR database. Results: Use of the tool has increased in the months since its initiation, and over 20,000 new immunizations have been exported successfully to CAIR since the hospital began sharing data with the registry. Survey data suggest that providers find this tool improves workflow and overall satisfaction with availability of immunization data. (p=0.009). Conclusions: Visual integration of external registries into a vendor EMR system is feasible and improves provider satisfaction and registry reporting. PMID:23923096

Cohort Profile : The National Academy of Sciences-National Research Council Twin Registry (NAS-NRC Twin Registry)

NARCIS (Netherlands)

Gatz, Margaret; Harris, Jennifer R.; Kaprio, Jaakko; McGue, Matt; Smith, Nicholas L.; Snieder, Harold; Spiro, Avron; Butler, David A.

The National Academy of Sciences-National Research Council Twin Registry (NAS-NRC Twin Registry) is a comprehensive registry of White male twin pairs born in the USA between 1917 and 1927, both of the twins having served in the military. The purpose was medical research and ultimately improved

Development of a prognostic model for predicting spontaneous singleton preterm birth.

Science.gov (United States)

Schaaf, Jelle M; Ravelli, Anita C J; Mol, Ben Willem J; Abu-Hanna, Ameen

2012-10-01

To develop and validate a prognostic model for prediction of spontaneous preterm birth. Prospective cohort study using data of the nationwide perinatal registry in The Netherlands. We studied 1,524,058 singleton pregnancies between 1999 and 2007. We developed a multiple logistic regression model to estimate the risk of spontaneous preterm birth based on maternal and pregnancy characteristics. We used bootstrapping techniques to internally validate our model. Discrimination (AUC), accuracy (Brier score) and calibration (calibration graphs and Hosmer-Lemeshow C-statistic) were used to assess the model's predictive performance. Our primary outcome measure was spontaneous preterm birth at model included 13 variables for predicting preterm birth. The predicted probabilities ranged from 0.01 to 0.71 (IQR 0.02-0.04). The model had an area under the receiver operator characteristic curve (AUC) of 0.63 (95% CI 0.63-0.63), the Brier score was 0.04 (95% CI 0.04-0.04) and the Hosmer Lemeshow C-statistic was significant (pvalues of predicted probability. The positive predictive value was 26% (95% CI 20-33%) for the 0.4 probability cut-off point. The model's discrimination was fair and it had modest calibration. Previous preterm birth, drug abuse and vaginal bleeding in the first half of pregnancy were the most important predictors for spontaneous preterm birth. Although not applicable in clinical practice yet, this model is a next step towards early prediction of spontaneous preterm birth that enables caregivers to start preventive therapy in women at higher risk. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

Birth order, sibship size, and risk for germ-cell testicular cancer.

Science.gov (United States)

Richiardi, Lorenzo; Akre, Olof; Lambe, Mats; Granath, Fredrik; Montgomery, Scott M; Ekbom, Anders

2004-05-01

Several studies have reported an inverse association between birth order and testicular cancer risk, but estimates vary greatly and the biologic mechanism underlying the association is not established. We have evaluated the effect of birth order, sibship size, and the combined effect of these 2 variables in relation to risk for testicular cancer in a large, nested case-control study. Specifically, we compared 3051 patients with germ-cell testicular cancer (diagnosed between 1958 and 1998 and identified through the Swedish Cancer Registry) with 9007 population control subjects. Using record linkage with the Multi-Generation Register and the Census, we obtained information on number, order, and sex of the subjects' siblings, parental age, and paternal socioeconomic status. Both birth order and sibship size had an inverse and monotonically decreasing association with testicular cancer risk after adjusting for parental age, paternal socioeconomic status, and twin status. The associations were modified by subjects' cohort of birth and were not present among those born after 1959. The odds ratio for having at least 3 siblings, compared with none, was 0.63 (95% confidence interval = 0.53-0.75) among subjects born before 1960. Stratified analyses showed that birth order and number of younger siblings had a similar inverse association with the risk for testicular cancer. Sibship size, and not only birth order, is associated with testicular cancer risk. This suggests a higher prevalence of parental subfertility among patients with testicular cancer.

A Registry Framework Enabling Patient-Centred Care.

Science.gov (United States)

Bellgard, Matthew I; Napier, Kathryn; Render, Lee; Radochonski, Maciej; Lamont, Leanne; Graham, Caroline; Wilton, Steve D; Fletcher, Sue; Goldblatt, Jack; Hunter, Adam A; Weeramanthri, Tarun

2015-01-01

Clinical decisions rely on expert knowledge that draws on quality patient phenotypic and physiological data. In this regard, systems that can support patient-centric care are essential. Patient registries are a key component of patient-centre care and can come in many forms such as disease-specific, recruitment, clinical, contact, post market and surveillance. There are, however, a number of significant challenges to overcome in order to maximise the utility of these information management systems to facilitate improved patient-centred care. Registries need to be harmonised regionally, nationally and internationally. However, the majority are implemented as standalone systems without consideration for data standards or system interoperability. Hence the task of harmonisation can become daunting. Fortunately, there are strategies to address this. In this paper, a disease registry framework is outlined that enables efficient deployment of national and international registries that can be modified dynamically as registry requirements evolve. This framework provides a basis for the development and implementation of data standards and enables patients to seamlessly belong to multiple registries. Other significant advances include the ability for registry curators to create and manage registries themselves without the need to contract software developers, and the concept of a registry description language for ease of registry template sharing.

Smoking ban and health at birth: Evidence from Hungary.

Science.gov (United States)

Hajdu, Tamás; Hajdu, Gábor

2018-06-13

In 2012, smoking restrictions were extended to hospitality venues in Hungary. Women working in bars and restaurants were primarily affected by the intervention. In this research, we analyze the effect of this smoking ban on the outcomes of their pregnancies. Using individual live birth, fetal loss, and infant mortality registry data, we examine the probability of live birth, indicators of health at birth, and the probability of death in the first year of life. We apply a difference-in-differences framework and show that the smoking ban has improved health at birth. We observed birth weight to increase by 56 g (95% CI: 4.2 to 106.8) and gestation length by 0.19 weeks (95% CI: 0.02 to 0.36). Due to the ban, the probability of being born with very low and low birth weight has decreased by 1.2 and 2.2 percentage points, respectively (95% CI: -0.2 to -2.2 and 0.06 to -4.4), and we see a 0.9 percentage points reduction in the chance of being born very preterm (95% CI: -0.03 to -1.9). We also observe a decrease in the probability of being born with a low Ponderal index (decrease of 4.1 percentage points, 95% CI: -0.7 to -7.5). Performing a series of robustness and placebo tests, we provide evidence that supports the causal interpretation of our results. We also show that the ban was more beneficial for newborns of parents with low educational attainment and at the bottom of the fetal health endowment distribution. Copyright © 2018 Elsevier B.V. All rights reserved.

Registries in European post-marketing surveillance

DEFF Research Database (Denmark)

Bouvy, Jacoline C; Blake, Kevin; Slattery, Jim

2017-01-01

at gaining further insight into the European Medicines Agency's (EMA) requests for new registries and registry studies using existing registries and to review the experience gained in their conduct. METHODS: European Public Assessment Reports were consulted to identify products for which a request...

Contextualized B2B Registries

OpenAIRE

Radetzki, U; Boniface, M.J.; Surridge, M.

2007-01-01

Abstract. Service discovery is a fundamental concept underpinning the move towards dynamic service-oriented business partnerships. The business process for integrating service discovery and underlying registry technologies into busi-ness relationships, procurement and project management functions has not been examined and hence existing Web Service registries lack capabilities required by business today. In this paper we present a novel contextualized B2B registry that supports dynamic regist...

Characteristics and outcome of unplanned out-of-institution births in Norway from 1999 to 2013: a cross-sectional study.

Science.gov (United States)

Gunnarsson, Björn; Smárason, Alexander K; Skogvoll, Eirik; Fasting, Sigurd

2014-10-01

To study the incidence, maternal characteristics and outcome of unplanned out-of-institution births (= unplanned births) in Norway. Register-based cross-sectional study. All births in Norway (n = 892 137) from 1999 to 2013 with gestational age ≥22 weeks. Analysis of data from the Medical Birth Registry of Norway from 1999 to 2013. Unplanned births (n = 6062) were compared with all other births (reference group). The annual incidence rate of unplanned births was 6.8/1000 births and remained stable during the period of study. Young multiparous women residing in remote municipalities were at the highest risk of experiencing unplanned births. The unplanned birth group had higher perinatal mortality rate for the period, 11.4/1000 compared with 4.9/1000 for the reference group (incidence rate ratio 2.31, 95% confidence interval 1.82-2.93, p life, compared with reference births in the same birthweight category. Unplanned births are associated with adverse outcome. Excessive mortality is possibly caused by reduced availability of necessary medical interventions for vulnerable newborns out-of-hospital. © 2014 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic Federation of Societies of Obstetrics and Gynecology (NFOG).

Waste incineration and adverse birth and neonatal outcomes: a systematic review.

Science.gov (United States)

Ashworth, Danielle C; Elliott, Paul; Toledano, Mireille B

2014-08-01

Public concern about potential health risks associated with incineration has prompted studies to investigate the relationship between incineration and risk of cancer, and more recently, birth outcomes. We conducted a systematic review of epidemiologic studies evaluating the relationship between waste incineration and the risk of adverse birth and neonatal outcomes. Literature searches were performed within the MEDLINE database, through PubMed and Ovid interfaces, for the search terms; incineration, birth, reproduction, neonatal, congenital anomalies and all related terms. Here we discuss and critically evaluate the findings of these studies. A comprehensive literature search yielded fourteen studies, encompassing a range of outcomes (including congenital anomalies, birth weight, twinning, stillbirths, sex ratio and infant death), exposure assessment methods and study designs. For congenital anomalies most studies reported no association with proximity to or emissions from waste incinerators and "all anomalies", but weak associations for neural tube and heart defects and stronger associations with facial clefts and urinary tract defects. There is limited evidence for an association between incineration and twinning and no evidence of an association with birth weight, stillbirths or sex ratio, but this may reflect the sparsity of studies exploring these outcomes. The current evidence-base is inconclusive and often limited by problems of exposure assessment, possible residual confounding, lack of statistical power with variability in study design and outcomes. However, we identified a number of higher quality studies reporting significant positive relationships with broad groups of congenital anomalies, warranting further investigation. Future studies should address the identified limitations in order to help improve our understanding of any potential adverse birth outcomes associated with incineration, particularly focussing on broad groups of anomalies, to inform

Birth Characteristics and Childhood Leukemia Risk: Correlations With Genetic Markers.

Science.gov (United States)

Kennedy, Amy E; Kamdar, Kala Y; Lupo, Philip J; Okcu, Mehmet F; Scheurer, Michael E; Dorak, Mehmet T

2015-07-01

Birth characteristics such as birth order, birth weight, birth defects, and Down syndrome showed some of the first risk associations with childhood leukemia. Examinations of correlations between birth characteristics and leukemia risk markers have been limited to birth weight-related genetic polymorphisms. We integrated information on nongenetic and genetic markers by evaluating the relationship of birth characteristics, genetic markers for childhood acute lymphoblastic leukemia (ALL) susceptibility, and ALL risk together. The multiethnic study consisted of cases with childhood ALL (n=161) and healthy controls (n=261). Birth characteristic data were collected through questionnaires, and genotyping was achieved by TaqMan SNP Genotyping Assays. We observed risk associations for birth weight over 4000 g (odds ratios [OR]=1.93; 95% confidence interval [CI], 1.16-3.19), birth length (OR=1.18 per inch; 95% CI, 1.01-1.38), and with gestational age (OR=1.10 per week; 95% CI, 1.00-1.21). Only the HFE tag single-nucleotide polymorphism (SNP) rs9366637 showed an inverse correlation with a birth characteristic, gestational age, with a gene-dosage effect (P=0.005), and in interaction with a transferrin receptor rs3817672 genotype (Pinteraction=0.05). This correlation translated into a strong association for rs9366637 with preterm birth (OR=5.0; 95% CI, 1.19-20.9). Our study provides evidence for the involvement of prenatal events in the development of childhood ALL. The inverse correlation of rs9366637 with gestational age has implications on the design of HFE association studies in birth weight and childhood conditions using full-term newborns as controls.

Fetal growth and preterm birth in children exposed to maternal or paternal rheumatoid arthritis. A nationwide cohort study

DEFF Research Database (Denmark)

Rom, Ane L; Wu, Chunsen; Olsen, Jørn

2014-01-01

OBJECTIVE: To assess indicators of fetal growth and risk of preterm birth in children of parents with rheumatoid arthritis (RA). METHODS: Through linkage of Danish national registries, we identified all children born in Denmark between 1977 and 2008. We used general linear regression models...... to estimate mean differences in indicators of fetal growth among children with a parent with RA compared to unexposed children. Odds ratios (ORs) and 95% confidence intervals (95% CIs) of preterm birth were calculated using a logistic regression model. RESULTS: Of the 1,917,723 children included, a total...... of 13,556 children were exposed to maternal RA or maternal preclinical RA. Children exposed to maternal RA (n = 2,101) had approximately similar length, head circumference, and abdominal circumference at birth compared with children of mothers without RA. Birth weight was 87 gm lower (mean difference...

Estudo de prevalência de defeitos congênitos no Vale do Paraíba Paulista Prevalence study of birth defects in Vale do Paraíba, São Paulo, Brazil

Directory of Open Access Journals (Sweden)

Cilene Otaviano Pinto

2007-09-01

Full Text Available OBJETIVO: Estimar a prevalência de anomalias congênitas no Vale do Paraíba Paulista em 2002 e 2003. MÉTODOS: Estudo transversal com base em dados constantes na Declaração de Nascido Vivo (DNV, cujas informações estavam no portal da Secretaria da Saúde do Estado de São Paulo. As malformações foram descritas de acordo com o capítulo XVII do Código Internacional de Doenças (CID 10, referente a variáveis maternas e do recém-nascido. A variável desfecho (dependente foi a presença de anomalia congênita; as demais informações das mães e do recém-nascido constantes na DNV (variáveis independentes foram analisadas para estimar as associações entre elas e a variável desfecho. Utilizou-se o programa Epi-Info 6.04d para análise estatística e o teste do qui-quadrado, do qui-quadrado de tendência linear e o teste t de Student. RESULTADOS: Foram analisados 41.838 dados com informações constantes nas DNVs, sendo identificados 618 (1,5% sem preenchimento do campo correspondente à anomalia congênita e 317 (0,76% nascidos com anomalia congênita. Houve associação positiva de anomalias congênitas com menor duração da gestação, maior número de filhos mortos, tipo de parto, baixo peso ao nascer e menor escore de Apgar. Os sistemas mais afetados foram o osteomuscular e o nervoso. CONCLUSÕES: A prevalência de malformações foi menor que a encontrada em outros estudos, possivelmente por sub-registro de informação.OBJECTIVE: Estimate the prevalence of birth defects in the Vale do Paraíba Paulista, São Paulo - Brazil, during the years of 2002 and 2003. METHODS: Cross-sectional study based on Birth Certificates available in the São Paulo Health Secretary site. The abnormalities were described according to chapter XVII of the International Classification of Diseases and Related Health Problems (ICD 10 for variables related to mothers and infants born alive at birth. The dependent variable was the presence of abnormalities

Corpus callosum defect with dilated lateral ventricles and an ...

African Journals Online (AJOL)

Diamond-Blackfan anemia (DBA), an inherited bone marrow failure syndrome characterized by anemia that usually presents before the first birthday or in early childhood, is associated with birth defects and an increased risk of cancer. Although anemia is the most prominent feature of DBA, the disease is also characterized ...

Glocal clinical registries: pacemaker registry design and implementation for global and local integration--methodology and case study.

Directory of Open Access Journals (Sweden)

Kátia Regina da Silva

Full Text Available The ability to apply standard and interoperable solutions for implementing and managing medical registries as well as aggregate, reproduce, and access data sets from legacy formats and platforms to advanced standard formats and operating systems are crucial for both clinical healthcare and biomedical research settings.Our study describes a reproducible, highly scalable, standard framework for a device registry implementation addressing both local data quality components and global linking problems.We developed a device registry framework involving the following steps: (1 Data standards definition and representation of the research workflow, (2 Development of electronic case report forms using REDCap (Research Electronic Data Capture, (3 Data collection according to the clinical research workflow and, (4 Data augmentation by enriching the registry database with local electronic health records, governmental database and linked open data collections, (5 Data quality control and (6 Data dissemination through the registry Web site. Our registry adopted all applicable standardized data elements proposed by American College Cardiology / American Heart Association Clinical Data Standards, as well as variables derived from cardiac devices randomized trials and Clinical Data Interchange Standards Consortium. Local interoperability was performed between REDCap and data derived from Electronic Health Record system. The original data set was also augmented by incorporating the reimbursed values paid by the Brazilian government during a hospitalization for pacemaker implantation. By linking our registry to the open data collection repository Linked Clinical Trials (LinkedCT we found 130 clinical trials which are potentially correlated with our pacemaker registry.This study demonstrates how standard and reproducible solutions can be applied in the implementation of medical registries to constitute a re-usable framework. Such approach has the potential to

Characteristics of boys with the so-called true undescended testis diagnosed at the third postnatal month--a population-based case-control study.

Science.gov (United States)

Mavrogenis, Stelios; Urbán, Robert; Czeizel, Andrew E

2015-07-01

Undescended testis (cryptorchidism) is a common congenital abnormality of male genital organs diagnosed at birth followed with frequent postnatal descensus. However, the so-called isolated true undescended testis (ITUT) diagnosed at the third postnatal month seems to be an independent defect-entity, and this hypothesis was planned to confirm or reject in the study. The evaluation of birth outcomes and maternal socio-demographic data of cases with ITUT in the population-based large dataset of the Hungarian Congenital Abnormality Registry. There was a higher rate of preterm birth and particularly of low birthweight in 2052 cases with ITUT compared to 24,814 population male controls without any defects. The rate of twins was not higher in cases with older mothers, higher birth order and lower socio-economic status. The comparison of data of boys with undescended testis diagnosed at birth found in the previous study and with ITUT in this study confirmed our hypothesis. Undescended testis can be differentiated into two subgroups: boys with frequent postnatal descensus mainly after preterm delivery and boys with ITUT without postnatal testis descensus with frequent intrauterine growth restriction, older mothers with higher birth order and low socio-economic status.

Maternal and paternal age at delivery, birth order, and risk of childhood onset type 1 diabetes: population based cohort study

Science.gov (United States)

Stene, Lars C; Magnus, Per; Lie, Rolv T; Søvik, Oddmund; Joner, Geir

2001-01-01

Objective To estimate the associations of maternal and paternal age at delivery and of birth order with the risk of childhood onset type 1 diabetes. Design Cohort study by record linkage of the medical birth registry and the national childhood diabetes registry in Norway. Setting Norway. Subjects All live births in Norway between 1974 and 1998 (1.4 million people) were followed for a maximum of 15 years, contributing 8.2 million person years of observation during 1989-98. 1824 cases of type 1 diabetes diagnosed between 1989 and 1998 were identified. Main outcome measures Incidence of type 1 diabetes. Results There was no association between maternal age at delivery and type 1 diabetes among firstborn children, but among fourthborn children there was a 43.2% increase in incidence of diabetes for each five year increase in maternal age (95% confidence interval 6.4% to 92.6%). Each increase in birth order was associated with a 17.9% reduction in incidence (3.2% to 30.4%) when maternal age was 20-24 years, but the association was weaker when maternal age was 30 years or more. Paternal age was not associated with type 1 diabetes after maternal age was adjusted for. Conclusions Intrauterine factors and early life environment may influence the risk of type 1 diabetes. The relation of maternal age and birth order to risk of type 1 diabetes is complex. What is already known on this topicMaternal age at birth is positively associated with risk of childhood onset type 1 diabetesStudies of the effect of birth order on risk of type 1 diabetes have given inconsistent resultsWhat does this study add?In a national cohort, risk of diabetes in firstborn children was not associated with maternal ageIncreasing maternal age was a risk factor in children born second or laterThe strength of the association increased with increasing birth order PMID:11509426

Current situation and challenge of registry in China.

Science.gov (United States)

Zhang, Yang; Feng, Yuji; Qu, Zhi; Qi, Yali; Zhan, Siyan

2014-09-01

Increasing emphasis has been placed on registries for an organized system used in developing clinical research to improve health care. China has sufficient data that can be applied broadly, but the heterogeneity and irregularity of registries limit their applicability. This article aims to describe the status of registries in China and the related challenges. Patient registries for observational studies were retrieved from the International Clinical Trials Registry to quantitatively evaluate the number of comparatively high-quality registries in China. A literature search was also performed to provide support and updates. A total of 64 patient registries were retrieved from ClinicalTrials.gov using disease, product, and health service as criteria. The sample sizes ranged from 15 to 30,400, with only 12 registries marked as completed. This article describes and compares the detailed information in many aspects. The efficient use of registries has already made considerable progress in China; however, registries still require standardization, high-quality transition, and coordinated development.

A comparison of neural tube defects identified by two independent routine recording systems for congenital malformations in Northern Ireland.

Science.gov (United States)

Nevin, N C; McDonald, J R; Walby, A L

1978-12-01

The efficiency of two systems for recording congenital malformations has been compared; one system, the Registrar General's Congenital Malformation Notification, is based on registering all malformed infants, and the other, the Child Health System, records all births. In Northern Ireland for three years [1974--1976], using multiple sources of ascertainment, a total of 686 infants with neural tube defects was identified among 79 783 live and stillbirths. The incidence for all neural tube defects in 8 60 per 1 000 births. The Registrar General's Congenital Malformation Notification System identified 83.6% whereas the Child Health System identified only 63.3% of all neural tube defects. Both systems together identified 86.2% of all neural tube defects. The two systems are suitable for monitoring of malformations and the addition of information from the Genetic Counselling Clinics would enhance the data for epidemiological studies.

Clinical Case Registries: Simultaneous Local and National Disease Registries for Population Quality Management

Science.gov (United States)

Backus, Lisa I.; Gavrilov, Sergey; Loomis, Timothy P.; Halloran, James P.; Phillips, Barbara R.; Belperio, Pamela S.; Mole, Larry A.

2009-01-01

The Department of Veterans Affairs (VA) has a system-wide, patient-centric electronic medical record system (EMR) within which the authors developed the Clinical Case Registries (CCR) to support population-centric delivery and evaluation of VA medical care. To date, the authors have applied the CCR to populations with human immunodeficiency virus (HIV) and hepatitis C virus (HCV). Local components use diagnosis codes and laboratory test results to identify patients who may have HIV or HCV and support queries on local care delivery with customizable reports. For each patient in a local registry, key EMR data are transferred via HL7 messaging to a single national registry. From 128 local registry systems, over 60,000 and 320,000 veterans in VA care have been identified as having HIV and HCV, respectively, and entered in the national database. Local and national reports covering demographics, resource usage, quality of care metrics and medication safety issues have been generated. PMID:19717794

Up-to-date and projected estimates of survival for people with cystic fibrosis using baseline characteristics: A longitudinal study using UK patient registry data.

Science.gov (United States)

Keogh, Ruth H; Szczesniak, Rhonda; Taylor-Robinson, David; Bilton, Diana

2018-03-01

Cystic fibrosis (CF) is the most common inherited disease in Caucasians, affecting around 10,000 individuals in the UK today. Prognosis has improved considerably over recent decades with ongoing improvements in treatment and care. Providing up-to-date survival predictions is important for patients, clinicians and health services planning. Flexible parametric survival modelling of UK CF Registry data from 2011 to 2015, capturing 602 deaths in 10,428 individuals. Survival curves were estimated from birth; conditional on reaching older ages; and projected under different assumptions concerning future mortality trends, using baseline characteristics of sex, CFTR genotype (zero, one, two copies of F508del) and age at diagnosis. Male sex was associated with better survival, as was older age at diagnosis, but only in F508del non-homozygotes. Survival did not differ by genotype among individuals diagnosed at birth. Median survival ages at birth in F508del homozygotes were 46years (males) and 41years (females), and similar in non-homozygotes diagnosed at birth. F508del heterozygotes diagnosed aged 5 had median survival ages of 57 (males) and 51 (females). Conditional on survival to 30, median survival age rises to 52 (males) and 49 (females) in homozygotes. Mortality rates decreased annually by 2% during 2006-2015. Future improvements at this rate suggest median survival ages for F508del homozygous babies of 65 (males) and 56 (females). Over half of babies born today, and of individuals aged 30 and above today, can expect to survive into at least their fifth decade. Evidence before this study We searched PubMed with terms "(cystic fibrosis survival) and (projection OR model OR registry OR United Kingdom OR UK)" to identify relevant studies on survival estimates for individuals with cystic fibrosis (CF). We also considered the most recent annual report from the UK Cystic Fibrosis Registry (Cystic Fibrosis Trust, 2016), a review by Buzzetti and colleagues (2009), the chapter

[Trauma registry and injury].

Science.gov (United States)

Shapira, S C

2001-10-01

The trauma registry network constitutes an essential database in every injury prevention system. In order to rationally estimate the extent of injury in general, and injuries from traffic accidents in particular, the trauma registry systems should contain the most comprehensive and broad database possible, in line with the operational definitions. Ideally, the base of the injury pyramid should also include mild injuries and even "near-misses". The Israeli National Trauma Registry has come a long way in the last few years. The eventual inclusion of all trauma centers in Israel will enable the establishment of a firm base for the allocation of resources by decision-makers.

The influence on birthweight of maternal living conditions a decade prior to giving birth

Directory of Open Access Journals (Sweden)

John Singhammer

2009-10-01

Full Text Available The study’s aim was to correlate measures of mothers’ socio-economic status, a decade prior to giving birth, with their children’s birthweight. As part of a larger study, information on birth characteristics from 706 babies born 1970-73 were linked with census data obtained from their mothers near the time of birth as well as one decade earlier. The 706 individuals were selected at random from two national surveys in 1998 and 2000 and traced back to the time of birth in the period 1970-73. Information on birth characteristics was linked to census data obtained from the mothers in 1960 and 1970. Included was information on parent’s living conditions (e.g. income, type of dwelling, indoor plumbing, telephone, number of people in the household. Information on mother’s health during pregnancy, a decade before childbirth and near childbirth, and data on mothers’ and the infants’ health at birth was obtained from the Medical Birth Registry of Norway. In analysis that included both early and current socio-economic conditions maternal education and rural residency at the time of giving birth were observed as statistical significant predictors of birthweight. Results were adjusted for maternal age, parity, plurality, gender and diagnoses before and during pregnancy, all factors observed to attenuate birthweight. Indicators of women’s socio-economic conditions a decade prior to giving birth were not significantly associated with birthweight. These findings do not clearly support suggestions in the literature that an infant’s vitality may be influenced by the family’s socio-economic conditions years before birth.

The Qingdao Twin Registry

DEFF Research Database (Denmark)

Duan, Haiping; Ning, Feng; Zhang, Dongfeng

2013-01-01

In 1998, the Qingdao Twin Registry was initiated as the main part of the Chinese National Twin Registry. By 2005, a total of 10,655 twin pairs had been recruited. Since then new twin cohorts have been sampled, with one longitudinal cohort of adolescent twins selected to explore determinants of me...

Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of congenital anomalies

DEFF Research Database (Denmark)

Wemakor, A.; Casson, K.; Garne, E.

2015-01-01

Objective / Background The Selective Serotonin Reuptake Inhibitor (SSRI) antidepressants are widely prescribed in pregnancy, but there is evidence that they may cause congenital anomalies, particularly congenital heart defects (CHD). Objective: To determine the specificity of association between...... first trimester pregnancy exposure to individual SSRI and specific congenital anomalies (CAs). Methods Population-based case-malformed control study covering 3.3 million births from 12 EUROCAT registries 1995-2009. CAs included non-syndromic live births, fetal deaths and terminations of pregnancy......% confidence intervals (CI) were calculated adjusted for registry. Results SSRI use in first trimester pregnancy was associated with CHD overall (OR 1.38, 95 % CI 1.05-1.82, n=109); and with severe CHDs (OR 1.56, 95 % CI 1.03-2.38, n=29). Specific associations between SSRI and Tetralogy of Fallot (OR 3.36, 95...

The value of trauma registries.

Science.gov (United States)

Moore, Lynne; Clark, David E

2008-06-01

Trauma registries are databases that document acute care delivered to patients hospitalised with injuries. They are designed to provide information that can be used to improve the efficiency and quality of trauma care. Indeed, the combination of trauma registry data at regional or national levels can produce very large databases that allow unprecedented opportunities for the evaluation of patient outcomes and inter-hospital comparisons. However, the creation and upkeep of trauma registries requires a substantial investment of money, time and effort, data quality is an important challenge and aggregated trauma data sets rarely represent a population-based sample of trauma. In addition, trauma hospitalisations are already routinely documented in administrative hospital discharge databases. The present review aims to provide evidence that trauma registry data can be used to improve the care dispensed to victims of injury in ways that could not be achieved with information from administrative databases alone. In addition, we will define the structure and purpose of contemporary trauma registries, acknowledge their limitations, and discuss possible ways to make them more useful.

On Domain Registries and Website Content

DEFF Research Database (Denmark)

Schwemer, Sebastian Felix

2018-01-01

such as Internet access service providers, hosting platforms, and websites that link to content. This article shows that in recent years, however, that the (secondary) liability of domain registries and registrars, and more specifically country code top-level domain registries (ccTLDs) for website content, has...... been tested in several EU Member States. The article investigates tendencies in the national lower-court jurisprudence and explores to what extent the liability exemption regime of the E-Commerce Directive applies to domain registries. The analysis concludes that whereas domain registries fall under...

EMI Registry Development Plan

CERN Document Server

Memon, S.; Szigeti, G.; Field, L.

2012-01-01

This documents describes the overall development plan of the EMI Registry product, the plan focuses on the realisation of the EMI Registry specification as defined in the document. It is understood that during the course of the development phase the specification will likely evolve and the changes will be fed into the specification document.

How Do We Define Congenital Heart Defects for Scientific Studies?

DEFF Research Database (Denmark)

Garne, Ester; Olsen, Morten Smaerup; Johnsen, Søren Paaske

2012-01-01

of echocardiography in neonatal intensive care, a patent ductus arteriosus (PDA) or flow over the atrial septum will often be visible. These findings may be coded as CHD at discharge and in this way falsely increase the CHD prevalence in the population. There are several purposes for which population-based data...... practice. We include PDA and atrial septal defects as CHD cases if these defects are still open 2 months after birth. International consensus on how to define CHD would improve the validity and comparability of epidemiological studies on CHD....

Triptan safety during pregnancy: a Norwegian population registry study

International Nuclear Information System (INIS)

Nezvalová-Henriksen, Kateřina; Spigset, Olav; Nordeng, Hedvig

2013-01-01

Knowledge on triptan safety during pregnancy remains limited to their class effect or studies on sumatriptan. Our aim was to evaluate the individual effect of four most frequently used triptans on several pregnancy outcomes. We used the Norwegian prescription database to access information on triptans redeemed by pregnant women living in Norway between 2004 and 2007. This database was linked to the Medical Birth Registry of Norway covering every institutional delivery in Norway and providing information on pregnancy, delivery, maternal and neonatal health. Estimates of associations with pregnancy outcomes were obtained by Generalised Estimation Equations analysis. Of the 181,125 women in our study, 1,465 (0.8 %) redeemed triptans during pregnancy, and 1,095 (0.6 %) redeemed triptans before pregnancy only (disease comparison group). The population comparison group comprised the remaining 178,565 women. Using this group as reference, we found no associations between triptan redemption during pregnancy and congenital malformations. Second trimester redemption was associated with postpartum haemorrhage (adjusted OR 1.57; 95 % CI 1.19–2.07). The disease comparison group had an increased risk of major congenital malformations (adjusted OR 1.48; 95 % CI 1.11–1.97), low birth weight (adjusted OR 1.39; 95 % CI 1.08–1.81), and preterm birth (adjusted OR 1.30; 95 % CI 1.06–1.60). The association of triptans with postpartum hemorrhage could be attributable to decreased platelet agreeability occurring in severe migraine. Likewise, the increased risk of major congenital malformations and other adverse pregnancy outcomes in the disease comparison group might be attributable to migraine severity

Area-level poverty and preterm birth risk: A population-based multilevel analysis

Science.gov (United States)

DeFranco, Emily A; Lian, Min; Muglia, Louis A; Schootman, Mario

2008-01-01

Background Preterm birth is a complex disease with etiologic influences from a variety of social, environmental, hormonal, genetic, and other factors. The purpose of this study was to utilize a large population-based birth registry to estimate the independent effect of county-level poverty on preterm birth risk. To accomplish this, we used a multilevel logistic regression approach to account for multiple co-existent individual-level variables and county-level poverty rate. Methods Population-based study utilizing Missouri's birth certificate database (1989–1997). We conducted a multilevel logistic regression analysis to estimate the effect of county-level poverty on PTB risk. Of 634,994 births nested within 115 counties in Missouri, two levels were considered. Individual-level variables included demographics factors, prenatal care, health-related behavioral risk factors, and medical risk factors. The area-level variable included the percentage of the population within each county living below the poverty line (US census data, 1990). Counties were divided into quartiles of poverty; the first quartile (lowest rate of poverty) was the reference group. Results PTB rate of PTB poverty and increased through the 4th quartile (4.9%), p poverty was significantly associated with PTB risk. PTB risk (poverty, adjusted odds ratio (adjOR) 1.18 (95% CI 1.03, 1.35), with a similar effect at earlier gestational ages (birth, above other underlying risk factors. Although the risk increase is modest, it affects a large number of pregnancies. PMID:18793437

Area-level poverty and preterm birth risk: A population-based multilevel analysis

Directory of Open Access Journals (Sweden)

Muglia Louis A

2008-09-01

Full Text Available Abstract Background Preterm birth is a complex disease with etiologic influences from a variety of social, environmental, hormonal, genetic, and other factors. The purpose of this study was to utilize a large population-based birth registry to estimate the independent effect of county-level poverty on preterm birth risk. To accomplish this, we used a multilevel logistic regression approach to account for multiple co-existent individual-level variables and county-level poverty rate. Methods Population-based study utilizing Missouri's birth certificate database (1989–1997. We conducted a multilevel logistic regression analysis to estimate the effect of county-level poverty on PTB risk. Of 634,994 births nested within 115 counties in Missouri, two levels were considered. Individual-level variables included demographics factors, prenatal care, health-related behavioral risk factors, and medical risk factors. The area-level variable included the percentage of the population within each county living below the poverty line (US census data, 1990. Counties were divided into quartiles of poverty; the first quartile (lowest rate of poverty was the reference group. Results PTB th quartile (4.9%, p adjOR 1.18 (95% CI 1.03, 1.35, with a similar effect at earlier gestational ages (adjOR 1.27 (95% CI 1.06, 1.52. Conclusion Women residing in socioeconomically deprived areas are at increased risk of preterm birth, above other underlying risk factors. Although the risk increase is modest, it affects a large number of pregnancies.

The European Cystic Fibrosis Society Patient Registry: valuable lessons learned on how to sustain a disease registry.

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Viviani, Laura; Zolin, Anna; Mehta, Anil; Olesen, Hanne Vebert

2014-06-07

Disease registries have the invaluable potential to provide an insight into the natural history of the disease under investigation, to provide useful information (e.g. through health indicators) for planning health care services and to identify suitable groups of patients for clinical trials enrolment. However, the establishment and maintenance of disease registries is a burdensome initiative from economical and organisational points of view and experience sharing on registries management is important to avoid waste of resources. The aim of this paper is to discuss the problems embedded in the institution and management of an international disease registry to warn against common mistakes that can derail the best of intentions: we share the experience of the European Cystic Fibrosis Society Patient Registry, which collects data on almost 30,000 patients from 23 countries. We discuss the major problems that researchers often encounter in the creation and management of disease registries: definition of the aims the registry has to reach, definition of the criteria for patients referral to the registry, definition of the information to record, set up of a data quality process, handling of missing data, maintenance of data confidentiality, regulation of data use and dissemination of research results. We give examples on how many crucial aspects were solved by the European Cystic Fibrosis Society Patient Registry regarding objectives, inclusion criteria and variables definition, data management, data quality controls, missing data handling, confidentiality maintenance, data use and results dissemination. We suggest an extensive literature research and discussions in working groups with different stake holders, including patient representatives, on the objectives, inclusion criteria and the information to record. We propose to pilot the recording of few variables and test the applicability of their definition first. The use of a shared electronic platform for data

[Pediatric cardiovascular surgical data base registry in México. First report].

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Cervantes-Salazar, Jorge; Calderón-Colmenero, Juan; Ramírez-Marroquín, Samuel; Palacios-Macedo, Alexis; Bolio-Cerdán, Alejandro; Vizcaíno Alarcón, Alfredo; Curi-Curi, Pedro; de la Llata, Manuel; Erdmenger-Orellana, Julio; González, Julieta; García-Soriano, Federico; Calderón, Alejandro; Casillas, Luis; Villanueva, Filiberto; Sánchez-Ramírez, Roberto; Osnaya, Héctor; Necoechea, Juan Carlos; Alva-Espinoza, Carlos; Prado-Villegas, Guillermo

2013-01-01

Current world tendency is the detection of health problems in order to offer solution alternatives by means of the development of computarized data bases. To present the results of a computerized data base developed for the registry of pediatric cardiac surgery with the support of Asociación Mexicana de Especialistas en Cardiopatías Congénitas (AMECC, A.C.). A one-year analysis (from August 1, 2011 to July 31, 2012) of a computerized data base was performed with the support of AMECC and the participation of the most important Mexican institutions for pediatric surgical heart disease health care, particularly for the uninsured population. There were 7 health institutions voluntarily incorporated to the national data base registry, and in the first year of observation, 943 surgical procedures in 880 patients and 7% re-operations (n = 63), were reported. Patients up to one-year old accounted for 38%. The most frequent types of operated congenital heart diseases were: patent ductus arteriosus (n = 96), ventricular septal defect (n = 86), tetralogy of Fallot (n = 72), atrial septal defect (n = 68), and aortic coarctation (n = 54). Elective procedures were 90%, and 62% of them were performed with the use of cardiopulmonary bypass. Overall mortality was 7.5% with the following RACHS-1 score risk distribution: 1 (n = 4.2%), 2 (n = 19.6%), 3 (n = 22.8%), 4 (n = 12.19%), 5 (n = 1.25%), 6 (n = 6.44%) and not classifiable (n = 2.9%). Although this analysis gives a representative vision of the cardiovascular surgical health care for the uninsured national pediatric population, the incorporation of other health institutions to this data base may lead us to have a most realistic overview in relation to the surgical cardiovascular health care for the up to 18 year-old population.

A multinational case-control study on childhood brain tumours, anthropogenic factors, birth characteristics and prenatal exposures

DEFF Research Database (Denmark)

Vienneau, Danielle; Infanger, Denis; Feychting, Maria

2016-01-01

supplement intake) in relation to risk of brain tumour diagnosis among 7-19 year olds. The multinational case-control study in Denmark, Sweden, Norway and Switzerland (CEFALO) included interviews with 352 (participation rate=83.2%) eligible cases and 646 (71.1%) population-based controls. Interview data were...... complemented with data from birth registries and validated by assessing agreement (Cohen's Kappa). We used conditional logistic regression models matched on age, sex and geographical region (adjusted for maternal age and parental education) to explore associations between birth factors and childhood brain...... during pregnancy was indicative of a protective effect (OR 0.75, 95%-CI: 0.56-1.01). No association was seen for maternal smoking during pregnancy or working during pregnancy. We found little evidence that the considered birth factors were related to brain tumour risk among children and adolescents....

Defining smallness for gestational age in the early years of the Danish Medical Birth Registry

DEFF Research Database (Denmark)

á Rogvi, Rasmus; Mathiasen, Rene; Greisen, Gorm

2011-01-01

, but due to variable data quality, data is most often used only from 1981 onwards, and birth registers in other countries may have similar problems for the early years. We wanted to examine whether the data can be used for identification of children born SGA and used in future research....

Glocal Clinical Registries: Pacemaker Registry Design and Implementation for Global and Local Integration – Methodology and Case Study

Science.gov (United States)

da Silva, Kátia Regina; Costa, Roberto; Crevelari, Elizabeth Sartori; Lacerda, Marianna Sobral; de Moraes Albertini, Caio Marcos; Filho, Martino Martinelli; Santana, José Eduardo; Vissoci, João Ricardo Nickenig; Pietrobon, Ricardo; Barros, Jacson V.

2013-01-01

Background The ability to apply standard and interoperable solutions for implementing and managing medical registries as well as aggregate, reproduce, and access data sets from legacy formats and platforms to advanced standard formats and operating systems are crucial for both clinical healthcare and biomedical research settings. Purpose Our study describes a reproducible, highly scalable, standard framework for a device registry implementation addressing both local data quality components and global linking problems. Methods and Results We developed a device registry framework involving the following steps: (1) Data standards definition and representation of the research workflow, (2) Development of electronic case report forms using REDCap (Research Electronic Data Capture), (3) Data collection according to the clinical research workflow and, (4) Data augmentation by enriching the registry database with local electronic health records, governmental database and linked open data collections, (5) Data quality control and (6) Data dissemination through the registry Web site. Our registry adopted all applicable standardized data elements proposed by American College Cardiology / American Heart Association Clinical Data Standards, as well as variables derived from cardiac devices randomized trials and Clinical Data Interchange Standards Consortium. Local interoperability was performed between REDCap and data derived from Electronic Health Record system. The original data set was also augmented by incorporating the reimbursed values paid by the Brazilian government during a hospitalization for pacemaker implantation. By linking our registry to the open data collection repository Linked Clinical Trials (LinkedCT) we found 130 clinical trials which are potentially correlated with our pacemaker registry. Conclusion This study demonstrates how standard and reproducible solutions can be applied in the implementation of medical registries to constitute a re-usable framework

[Inclusion of traditional birth attendants in the public health care system in Brazil: reflecting on challenges].

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Gusman, Christine Ranier; Viana, Ana Paula de Andrade Lima; Miranda, Margarida Araújo Barbosa; Pedrosa, Mayane Vilela; Villela, Wilza Vieira

2015-05-01

The present article describes an experience with traditional birth attendants carried out in the state of Tocantins, Brazil, between 2010 and 2014. The experience was part of a diagnostic project to survey home deliveries in the state of Tocantins and set up a registry of traditional birth attendants for the Health Ministry's Working with Traditional Birth Attendants Program (PTPT). The project aimed to articulate the home deliveries performed by traditional birth attendants to the local health care systems (SUS). Sixty-seven active traditional birth attendants were identified in the state of Tocantins, and 41 (39 indigenous) participated in workshops. During these workshops, they discussed their realities, difficulties, and solutions in the context of daily adversities. Birth attendants were also trained in the use of biomedical tools and neonatal resuscitation. Based on these experiences, the question came up regarding the true effectiveness of the strategy to include traditional birth attendants in the SUS. The present article discusses this theme with support from the relevant literature. The dearth of systematic studies focusing on the impact of PTPT actions on the routine of traditional birth attendants, including perinatal outcomes and remodeling of health practices in rural, riverfront, former slave, forest, and indigenous communities, translates into a major gap in terms of the knowledge regarding the effectiveness of such initiatives.

Association of Prenatal Ibuprofen Exposure with Birth Weight and Gestational Age: A Population-Based Sibling Study.

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Nezvalová-Henriksen, Kateřina; Wood, Mollie; Spigset, Olav; Nordeng, Hedvig

2016-01-01

Three studies so far have investigated the effect of prenatal non-steroidal anti-inflammatory drug (NSAID) exposure on birth weight and gestational age. The aim in this study was to evaluate the association of prenatal ibuprofen with birth weight and gestational age at birth, using a sibling design in an attempt to adjust for the possibility of familial confounding. Using data from the Norwegian Mother and Child Cohort Study (MoBa) and the Medical Birth Registry of Norway (MBRN), we identified 28 597 siblings, of whom 1080 were prenatally exposed to ibuprofen and 26 824 were not exposed to any NSAID. Random and fixed effects models with propensity score adjustment were used to evaluate the effects of ibuprofen exposure on birth weight and gestational age. Ibuprofen exposure during the first trimester was associated with a decrease in birth weight of 79 grams (95% confidence interval -133 to -25 grams). In contrast, second and/or third trimester exposure, and duration of exposure had no impact on the effect estimates. We found no association between ibuprofen exposure and gestational age at birth. Our results suggest that prenatal exposure to ibuprofen during the first trimester is associated with a slight decrease in birth weight. The association does not seem to be attributable to shared genetics and family environment, and could be explained by either exposure to ibuprofen, or to non-shared confounding between pregnancies.

Birth order and Risk of Childhood Cancer: A Pooled Analysis from Five U.S. States

Science.gov (United States)

Von Behren, Julie; Spector, Logan G.; Mueller, Beth A.; Carozza, Susan E.; Chow, Eric J.; Fox, Erin E.; Horel, Scott; Johnson, Kimberly J.; McLaughlin, Colleen; Puumala, Susan E.; Ross, Julie A.; Reynolds, Peggy

2010-01-01

The causes of childhood cancers are largely unknown. Birth order has been used as a proxy for prenatal and postnatal exposures, such as frequency of infections and in utero hormone exposures. We investigated the association between birth order and childhood cancers in a pooled case-control dataset. The subjects were drawn from population-based registries of cancers and births in California, Minnesota, New York, Texas, and Washington. We included 17,672 cases less than 15 years of age who were diagnosed from1980-2004 and 57,966 randomly selected controls born 1970-2004, excluding children with Down syndrome. We calculated odds ratios and 95% confidence intervals using logistic regression, adjusted for sex, birth year, maternal race, maternal age, multiple birth, gestational age, and birth weight. Overall, we found an inverse relationship between childhood cancer risk and birth order. For children in the fourth or higher birth order category compared to first-born children, the adjusted OR was 0.87 (95% CI: 0.81, 0.93) for all cancers combined. When we examined risks by cancer type, a decreasing risk with increasing birth order was seen in the central nervous system (CNS) tumors, neuroblastoma, bilateral retinoblastoma, Wilms tumor, and rhabdomyosarcoma. We observed increased risks with increasing birth order for acute myeloid leukemia but a slight decrease in risk for acute lymphoid leukemia. These risk estimates were based on a very large sample size which allowed us to examine rare cancer types with greater statistical power than in most previous studies, however the biologic mechanisms remain to be elucidated. PMID:20715170

Forty-Five-Year Mortality Rate as a Function of the Number and Type of Psychiatric Diagnoses Found in a Large Danish Birth Cohort

DEFF Research Database (Denmark)

Madarasz, Wendy; Manzardo, Ann; Mortensen, Erik Lykke

2012-01-01

Central Psychiatric Research Registry for 8109 birth cohort members aged 45 years. Lifetime psychiatric diagnoses (International Classification of Diseases, Revision 10, group F codes, Mental and Behavioural Disorders, and one Z code) for identified subjects were organized into 14 mutually exclusive......Objective: Psychiatric comorbidities are common among psychiatric patients and typically associated with poorer clinical prognoses. Subjects of a large Danish birth cohort were used to study the relation between mortality and co-occurring psychiatric diagnoses. Method: We searched the Danish...

Findings from the Peutz-Jeghers syndrome registry of Uruguay

KAUST Repository

Tchekmedyian, Asadur

2013-11-19

Background: Peutz-Jeghers syndrome (PJS) is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data from all Uruguayan PJS patients. Methods: Clinical data were obtained from public and private medical centers and updated annually. Sequencing of the STK11 gene in one member of each family was performed. Results and discussion: 25 cases in 11 unrelated families were registered (15 males, 10 females). The average age of diagnosis and death was 18 and 41 years respectively. All patients had characteristic PJS pigmentation and gastrointestinal polyps. 72% required urgent surgery due to intestinal obstruction. 3 families had multiple cases of seizure disorder, representing 20% of cases. 28% developed cancer and two patients had more than one cancer. An STK11 mutation was found in 8 of the 9 families analyzed. A unique M136K missense mutation was noted in one family. Comparing annual live births and PJS birth records from 1970 to 2009 yielded an incidence of 1 in 155,000. Conclusion: The Uruguayan Registry for Peutz-Jeghers patients showed a high chance of emergent surgery, epilepsy, cancer and shortened life expectancy. The M136K missense mutation is a newly reported STK 11 mutation. © 2013 Tchekmedyian et al.

Findings from the Peutz-Jeghers syndrome registry of uruguay.

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Asadur Tchekmedyian

Full Text Available BACKGROUND: Peutz-Jeghers syndrome (PJS is characterized by intestinal polyposis, mucocutaneous pigmentation and an increased cancer risk, usually caused by mutations of the STK11 gene. This study collected epidemiological, clinical and genetic data from all Uruguayan PJS patients. METHODS: Clinical data were obtained from public and private medical centers and updated annually. Sequencing of the STK11 gene in one member of each family was performed. RESULTS AND DISCUSSION: 25 cases in 11 unrelated families were registered (15 males, 10 females. The average age of diagnosis and death was 18 and 41 years respectively. All patients had characteristic PJS pigmentation and gastrointestinal polyps. 72% required urgent surgery due to intestinal obstruction. 3 families had multiple cases of seizure disorder, representing 20% of cases. 28% developed cancer and two patients had more than one cancer. An STK11 mutation was found in 8 of the 9 families analyzed. A unique M136K missense mutation was noted in one family. Comparing annual live births and PJS birth records from 1970 to 2009 yielded an incidence of 1 in 155,000. CONCLUSION: The Uruguayan Registry for Peutz-Jeghers patients showed a high chance of emergent surgery, epilepsy, cancer and shortened life expectancy. The M136K missense mutation is a newly reported STK 11 mutation.

[Births prevalence of 27 selected congenital anomalies in 7 geographic regions of Argentina].

Science.gov (United States)

Campaña, Hebe; Pawluk, Mariela S; López Camelo, Jorge S

2010-10-01

The aim of the present work was to estimate the frequency of 27 birth defects in 7 geographical regions of Argentina. Observational, cross-sectional, descriptive design. A sample of 21,844 new born with birth defects was selected, ascertained from 855,220 births, between 1994 and 2007, in 59 hospitals belonging to the ECLAMC network. In order to identify regions of high frequency a Poisson regression was used, adjusted by different hospitals from the same region. The model included a time variable to detect secular trends and 6 dummy variables for 7 predefined geographical regions: Metropolitana (MET); Pampa (PAM); Centro (CEN); Cuyo (CUY); Noroeste (NOA); Nordeste (NEA) and Patagonia (PAT). High frequencies regional analysis showed the following significant results: PAM: severe hypospadias; CEN: spina bifida, microtia, cleft lip with cleft palate, polycystic kidney, postaxial polydactyly and Down syndrome; CUY: postaxial polydactyly; NOA: omphalocele, gastroschisis, cleft lip without cleft palate, cleft lip with cleft palate, anorectal atresia/stenosis, indeterminate sex, preaxial polydactyly and pectoral agenesis; PAT: cleft lip without cleft palate. Out of the 27 congenital anomalies analyzed, fourteen showed a frequency significatively higher in one or more regions.

Long-term follow-up of cognitive outcome after breech presentation at birth

DEFF Research Database (Denmark)

Sørensen, Henrik Toft; Steffensen, Flemming Hald; Olsen, Jørn

1999-01-01

Studies of long-term consequences of birth in breech presentation are sparse. Therefore, we conducted a cohort study linking birth registry data with data collected during evaluation for military service in 4,298 conscripts born between 1973 and 1976. The cognitive functions were measured...... with the Boerge Prien IQ test. A total of 164 conscripts were born in breech presentation and 70 (42.7%) of these were delivered after Caesarean section. The mean Boerge Prien test score was 43.2 among men born in cephalic presentation and 39.9 among those born in breech presentation for a difference of 3.3 (95......% confidence interval = 1.8-4.7). The negative association between breech presentation and cognitive outcome persisted after stratifying by Caesarean section and after adjustment for confounders. It also persisted when we restricted the analyses to term singleton pregnancies....

Utility of registries for post-marketing evaluation of medicines. A survey of Swedish health care quality registries from a regulatory perspective.

Science.gov (United States)

Feltelius, Nils; Gedeborg, Rolf; Holm, Lennart; Zethelius, Björn

2017-06-01

The aim of this study was to describe content and procedures in some selected Swedish health care quality registries (QRs) of relevance to regulatory decision-making. A workshop was organized with participation of seven Swedish QRs which subsequently answered a questionnaire regarding registry content on drug treatments and outcomes. Patient populations, coverage, data handling and quality control, as well as legal and ethical aspects are presented. Scientific publications from the QRs are used as a complementary measure of quality and scientific relevance. The registries under study collect clinical data of high relevance to regulatory and health technology agencies. Five out of seven registries provide information on the drug of interest. When applying external quality criteria, we found a high degree of fulfillment, although information on medication was not sufficient to answer all questions of regulatory interest. A notable strength is the option for linkage to the Prescribed Drug Registry and to information on education and socioeconomic status. Data on drugs used during hospitalization were also collected to some extent. Outcome measures collected resemble those used in relevant clinical trials. All registries collected patient-reported outcome measures. The number of publications from the registries was substantial, with studies of appropriate design, including randomized registry trials. Quality registries may provide a valuable source of post-marketing data on drug effectiveness, safety, and cost-effectiveness. Closer collaboration between registries and regulators to improve quality and usefulness of registry data could benefit both regulatory utility and value for health care providers.

Clinical disease registries in acute myocardial infarction.

Science.gov (United States)

Ashrafi, Reza; Hussain, Hussain; Brisk, Robert; Boardman, Leanne; Weston, Clive

2014-06-26

Disease registries, containing systematic records of cases, have for nearly 100 years been valuable in exploring and understanding various aspects of cardiology. This is particularly true for myocardial infarction, where such registries have provided both epidemiological and clinical information that was not readily available from randomised controlled trials in highly-selected populations. Registries, whether mandated or voluntary, prospective or retrospective in their analysis, have at their core a common study population and common data definitions. In this review we highlight how registries have diversified to offer information on epidemiology, risk modelling, quality assurance/improvement and original research-through data mining, transnational comparisons and the facilitation of enrolment in, and follow-up during registry-based randomised clinical trials.

The Polish National Registry for Fetal Cardiac Pathology: organization, diagnoses, management, educational aspects and telemedicine endeavors.

Science.gov (United States)

Slodki, Maciej; Szymkiewicz-Dangel, Joanna; Tobota, Zdzislaw; Seligman, Neil S; Weiner, Stuart; Respondek-Liberska, Maria

2012-05-01

We describe the National Registry for Fetal Cardiac Pathology, a program under the Polish Ministry of Health aimed at improving the prenatal diagnosis, care, and management of congenital heart disease (CHD). An online database was created to prospectively record diagnosis, prenatal care, delivery, follow-up, and still images and video for fetuses with CHD. A certification program in fetal cardiac ultrasound was also implemented. Optimal screening and referral centers were identified by number of fetuses entered in the Registry yearly by each center. From 2004 to 2009, 2910 fetuses with CHD were registered (2473 structural, 437 functional anomalies). The most common reasons for referral for fetal echocardiography were abnormal four-chamber view (56.0%) and extra-cardiac anomalies (8.2% ), while the most common diagnoses were atrioventricular septal defects (10.2%) and hypoplastic left heart syndrome (9.7%). Prenatal diagnosis increased yearly, from 10.0% of neonatal diagnoses in 2003 to 38.0% in 2008. From inception of the registry up to 2009 there has been a fourfold increase in the number of neonates referred for cardiac surgery in whom the condition was prenatally diagnosed. Equally important achievements include the establishment of a certification program for fetal echocardiography and the organization of prenatal and neonatal management. © 2012 John Wiley & Sons, Ltd.

Danish Hip Arthroscopy Registry (DHAR)

DEFF Research Database (Denmark)

Lund, Bent; Mygind-Klavsen, Bjarne; Grønbech Nielsen, Torsten

2017-01-01

The Danish Hip Arthroscopy Registry (DHAR) was initiated in January 2012 as a web-based prospective registry. The purpose of this study was to evaluate and report the first registry based outcome data of a national population with radiological and clinical femoroacetabular impingement (FAI......) data from DHAR between January 2012 and November 2015 were extracted. Radiological pincer-type FAI was defined as LCE > 35° and cam FAI as alpha-angle > 55°. These data were combined with FAI surgical data such as osteochondroplasty and labral repair or resection. PROMs consisting of HAGOS, EQ-5 D...

Disruption of the folate pathway in zebrafish causes developmental defects

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Lee Marina S

2012-04-01

Full Text Available Abstract Background Folic acid supplementation reduces the risk of neural tube defects and congenital heart defects. The biological mechanisms through which folate prevents birth defects are not well understood. We explore the use of zebrafish as a model system to investigate the role of folate metabolism during development. Results We first identified zebrafish orthologs of 12 human folate metabolic genes. RT-PCR and in situ analysis indicated maternal transcripts supply the embryo with mRNA so that the embryo has an intact folate pathway. To perturb folate metabolism we exposed zebrafish embryos to methotrexate (MTX, a potent inhibitor of dihydrofolate reductase (Dhfr an essential enzyme in the folate metabolic pathway. Embryos exposed to high doses of MTX exhibited developmental arrest prior to early segmentation. Lower doses of MTX resulted in embryos with a shortened anterior-posterior axis and cardiac defects: linear heart tubes or incomplete cardiac looping. Inhibition of dhfr mRNA with antisense morpholino oligonucleotides resulted in embryonic lethality. One function of the folate pathway is to provide essential one-carbon units for dTMP synthesis, a rate-limiting step of DNA synthesis. After 24 hours of exposure to high levels of MTX, mutant embryos continue to incorporate the thymidine analog BrdU. However, additional experiments indicate that these embryos have fewer mitotic cells, as assayed with phospho-histone H3 antibodies, and that treated embryos have perturbed cell cycles. Conclusions Our studies demonstrate that human and zebrafish utilize similar one-carbon pathways. Our data indicate that folate metabolism is essential for early zebrafish development. Zebrafish studies of the folate pathway and its deficiencies could provide insight into the underlying etiology of human birth defects and the natural role of folate in development.

Effect of birth year on birth weight and obesity in adulthood: comparison between subjects born prior to and during the great depression in Iceland.

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Cindy Mari Imai

Full Text Available BACKGROUND: Many epidemiological studies have linked small size at birth to adverse adult health outcomes but the relative influence of environmental exposures is less well established. METHODS: The authors investigated the impact of prenatal environmental exposure by comparing 2750 participants born before (1925-1929 and during (1930-1934 the Great Depression in Reykjavik, Iceland. Calendar year served as proxy for environmental effects. Anthropometric measurements at birth and school-age (8-13 years were collected from national registries. Participants were medically examined as adults (33-65 years. RESULTS: Mean birth weight, adjusted for maternal age and parity, decreased by 97 g (95% confidence interval (CI: 39, 156 for men and 70 g (95% CI: 11, 129 for women from 1925 to 1934; growth at school-age was significantly reduced for participants growing during the Depression. As adults, women prenatally exposed to the Depression had higher body mass index (Δ0.6 kg/m(2, 95% CI: 0.2, 1.1, higher fasting blood glucose levels (Δ0.16 mmol/L, 95% CI: 0.07, 0.23 and greater odds of being obese 1.43 (95% CI: 1.01, 2.02 compared to unexposed counterparts. Non-significant associations were observed in men. CONCLUSION: Reduction in birth weight due to rapid shifts in the economic environment appears to have a modest but significant association with later obesity for women while male offspring appear to be less affected by these conditions.

Effect of birth year on birth weight and obesity in adulthood: comparison between subjects born prior to and during the great depression in Iceland.

Science.gov (United States)

Imai, Cindy Mari; Halldorsson, Thorhallur Ingi; Gunnarsdottir, Ingibjorg; Gudnason, Vilmundur; Aspelund, Thor; Jonsson, Gudmundur; Birgisdottir, Bryndis Eva; Thorsdottir, Inga

2012-01-01

Many epidemiological studies have linked small size at birth to adverse adult health outcomes but the relative influence of environmental exposures is less well established. The authors investigated the impact of prenatal environmental exposure by comparing 2750 participants born before (1925-1929) and during (1930-1934) the Great Depression in Reykjavik, Iceland. Calendar year served as proxy for environmental effects. Anthropometric measurements at birth and school-age (8-13 years) were collected from national registries. Participants were medically examined as adults (33-65 years). Mean birth weight, adjusted for maternal age and parity, decreased by 97 g (95% confidence interval (CI): 39, 156) for men and 70 g (95% CI: 11, 129) for women from 1925 to 1934; growth at school-age was significantly reduced for participants growing during the Depression. As adults, women prenatally exposed to the Depression had higher body mass index (Δ0.6 kg/m(2), 95% CI: 0.2, 1.1), higher fasting blood glucose levels (Δ0.16 mmol/L, 95% CI: 0.07, 0.23) and greater odds of being obese 1.43 (95% CI: 1.01, 2.02) compared to unexposed counterparts. Non-significant associations were observed in men. Reduction in birth weight due to rapid shifts in the economic environment appears to have a modest but significant association with later obesity for women while male offspring appear to be less affected by these conditions.

Anal sphincter defects and fecal incontinence 15-24 years after first delivery: a cross-sectional study.

Science.gov (United States)

Guzmán Rojas, R A; Salvesen, K Å; Volløyhaug, I

2018-05-01

To establish the prevalence of external (EAS) and internal (IAS) anal sphincter defects present 15-24 years after childbirth according to mode of delivery, and their association with development of fecal incontinence (FI). The study additionally aimed to compare the proportion of women with obstetric anal sphincter injuries (OASIS) reported at delivery with the proportion of women with sphincter defect detected on ultrasound 15-24 years later. This was a cross-sectional study including 563 women who delivered their first child between 1990 and 1997. Women responded to a validated questionnaire (Pelvic Floor Distress Inventory) in 2013-2014, from which the proportion of women with FI was recorded. Information about OASIS was obtained from the National Birth Registry. Study participants underwent four-dimensional transperineal ultrasound examination. Defect of EAS or IAS of ≥ 30° in at least four of six slices on tomographic ultrasound was considered a significant defect and was recorded. Four study groups were defined based on mode of delivery of the first child. Women who had delivered only by Cesarean section (CS) constituted the CS group. Women in the normal vaginal delivery (NVD) group had NVD of their first child and subsequent deliveries could be NVD or CS. The forceps delivery (FD) group included women who had FD, NVD or CS after FD of their first born. The vacuum delivery (VD) group included women who had VD, NVD or CS after VD of their first born. Multiple logistic regression was used to calculate adjusted odds ratios (aORs) for comparison of prevalence of an EAS defect following different modes of delivery and to test its association with FI. Fisher's exact test was used to calculate crude odds ratios (ORs) for IAS defects. Defects of EAS and IAS were found after NVD (n = 201) in 10% and 1% of cases, respectively, after FD (n = 144) in 32% and 7% of cases and after VD (n = 120) in 15% and 4% of cases. No defects were found after CS (n�

Thyroid Cancer Incidence in New Jersey: Time Trend, Birth Cohort and Socioeconomic Status Analysis (1979-2006)

International Nuclear Information System (INIS)

Roche, L.M.; Niu, X.; Pawlish, K.S.; Henry, K.A.

2011-01-01

The study's purpose was to investigate thyroid cancer incidence time trends, birth cohort effects, and association with socioeconomic status (SES) in New Jersey (NJ), a high incidence state, using NJ State Cancer Registry data. Thyroid cancer incidence rates in each sex, nearly all age groups, two major histologists and all stages significantly increased between 1979 and 2006. For each sex, age-specific incidence rates began greatly increasing in the 1924 birth cohort and, generally, the highest thyroid cancer incidence rate for each five-year age group occurred in the latest birth cohort and diagnosis period. Thyroid cancer incidence rates were significantly higher in NJ Census tracts with higher SES and in counties with a higher percentage of insured residents. These results support further investigation into the relationship between rising thyroid cancer incidence and increasing population exposure to medical (including diagnostic) radiation, as well as widespread use of more sensitive diagnostic techniques

Environmental Agents Service (EAS) Registry System of Records

Data.gov (United States)

Department of Veterans Affairs — The Environmental Agent Service (EAS) Registries is the information system encompassing the Ionizing Radiation Registry (IRR), the Agent Orange Registry (AOR), and...

Age-specific cost and public funding of a live birth following assisted reproductive treatment in Japan.

Science.gov (United States)

Maeda, Eri; Ishihara, Osamu; Saito, Hidekazu; Kuwahara, Akira; Toyokawa, Satoshi; Kobayashi, Yasuki

2014-05-01

The aim of this study was to calculate and assess the cost of assisted reproductive technology (ART) treatment cycles and live-birth events in Japan in 2010. We performed a retrospective analysis of 238,185 ART cycles, registered with the national registry of assisted reproductive treatment during 2010. Costs were calculated, using a decision analysis model. The average cost per live birth was ¥1,974,000. This varied from ¥1,155,000 in women aged birth was ¥442,000. This was ¥6,118,000 in women aged ≥ 45, 15.4 times higher than that of the 35-39-year-old age group. The costs and public funding of a live birth after ART treatment rises with age due to the lower success rates in older women. It may provide economic background to improve the current subsidy system for ART and to provide practical knowledge about fertility for the general population. © 2014 The Authors. Journal of Obstetrics and Gynaecology Research © 2014 Japan Society of Obstetrics and Gynecology.

International Consortium of Vascular Registries Consensus Recommendations for Peripheral Revascularisation Registry Data Collection

DEFF Research Database (Denmark)

Behrendt, Christian-Alexander; Bertges, Daniel; Eldrup, Nikolaj

2018-01-01

intervention; (ix) complications; and (x) follow up. CONCLUSION: A modified Delphi study allowed 25 international vascular registry experts to achieve a consensus recommendation for a minimum core data set and an optimum data set for peripheral arterial revascularisation registries. Continued global...... via internet exchange and face to face discussions. In total, 187 different items from the various registry data forms were identified for potential inclusion in the recommended data set. Ultimately, 79 items were recommended for inclusion in minimum core data sets, including 65 items in the level 1...... data set, and an additional 14 items in the more specific level 2 and 3 recommended data sets. Data elements were broadly divided into (i) patient characteristics; (ii) comorbidities; (iii) current medications; (iv) lesion treated; (v) procedure; (vi) bypass; (vii) endarterectomy (viii) catheter based...

Maternal characteristics and birth outcomes of pregnant women who had offspring with congenital ear abnormalities - a population-based case-control study.

Science.gov (United States)

Paput, László; Bánhidy, Ferenc; Czeizel, Andrew E

2011-09-01

To describe the maternal characteristics and birth outcomes of newborn infants affected with isolated ear congenital abnormalities (IECA), mainly isolated anotia/microtia and unclassified multiple congenital abnormalities (CAs) including anotia/microtia (UMAM). Cases with IECA and UMAM were compared with their matched controls and all controls without any defect and malformed controls affected with other defects in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. The mothers of 354 cases with IECA did not show significant difference in age, but their mean birth order was higher while their socio-economic status based on the maternal employment status was lower compared to the figures of their matched controls. There was a male excess among cases with microtia and mainly with UMAM. The evaluation of birth outcomes of newborns affected with IECA indicated intrauterine fetal growth retardation. Newborn infants with isolated microtia had intrauterine growth retardation and the association of this developmental defect localized for a small region of head with the general fetal development raises interesting theoretical question.

Preventable health and cost burden of adverse birth outcomes associated with pregestational diabetes in the United States.

Science.gov (United States)

Peterson, Cora; Grosse, Scott D; Li, Rui; Sharma, Andrea J; Razzaghi, Hilda; Herman, William H; Gilboa, Suzanne M

2015-01-01

Preconception care for women with diabetes can reduce the occurrence of adverse birth outcomes. We aimed to estimate the preconception care (PCC)-preventable health and cost burden of adverse birth outcomes associated with diagnosed and undiagnosed pregestational diabetes mellitus (PGDM) in the United States. Among women of reproductive age (15-44 years), we estimated age- and race/ethnicity-specific prevalence of diagnosed and undiagnosed diabetes. We applied age and race/ethnicity-specific pregnancy rates, estimates of the risk reduction from PCC for 3 adverse birth outcomes (preterm birth, major birth defects, and perinatal mortality), and lifetime medical and lost productivity costs for children with those outcomes. Using a probabilistic model, we estimated the reduction in adverse birth outcomes and costs associated with universal PCC compared with no PCC among women with PGDM. We did not assess maternal outcomes and associated costs. We estimated 2.2% of US births are to women with PGDM. Among women with diagnosed diabetes, universal PCC might avert 8397 (90% prediction interval [PI], 5252-11,449) preterm deliveries, 3725 (90% PI, 3259-4126) birth defects, and 1872 (90% PI, 1239-2415) perinatal deaths annually. Associated discounted lifetime costs averted for the affected cohort of children could be as high as $4.3 billion (90% PI, 3.4-5.1 billion) (2012 US dollars). PCC among women with undiagnosed diabetes could yield an additional $1.2 billion (90% PI, 951 million-1.4 billion) in averted cost. Results suggest a substantial health and cost burden associated with PGDM that could be prevented by universal PCC, which might offset the cost of providing such care. Published by Elsevier Inc.

14 CFR 47.19 - FAA Aircraft Registry.

Science.gov (United States)

2010-01-01

... 14 Aeronautics and Space 1 2010-01-01 2010-01-01 false FAA Aircraft Registry. 47.19 Section 47.19... REGISTRATION General § 47.19 FAA Aircraft Registry. Each application, request, notification, or other communication sent to the FAA under this Part must be mailed to the FAA Aircraft Registry, Department of...

14 CFR 49.11 - FAA Aircraft Registry.

Science.gov (United States)

2010-01-01

... 14 Aeronautics and Space 1 2010-01-01 2010-01-01 false FAA Aircraft Registry. 49.11 Section 49.11... AIRCRAFT TITLES AND SECURITY DOCUMENTS General § 49.11 FAA Aircraft Registry. To be eligible for recording, a conveyance must be mailed to the FAA Aircraft Registry, Department of Transportation, Post Office...

Artificial Nutritional Support Registries: systematic review.

Science.gov (United States)

Castelló-Botía, I; Wanden-Berghe, C; Sanz-Valero, J

2009-01-01

The nutritional registries are data bases through which we obtain the information to understand the nutrition of populations. Several main nutrition societies of the world have these types of registries, outstanding the NADYA (Home artificial and Ambulatory nutrition) group in Spain. The object of this study is to determine by means of a systematic review, the existent scientific production in the international data bases referred to nutritional support registries. Descriptive transversal study of the results of a critical bibliographic research done in the bioscience data bases: MEDLINE, EMBASE, The Cochrane Library, ISI (Web of Sciences), LILACS, CINHAL. A total of 20 original articles related to nutritional registries were found and recovered. Eleven registries of eight countries were identified: Australia, Germany, Italy, Japan, Spain, Sweden, United Status and United Kingdom. The Price Index was of 65% and all the articles were published in the last 20 years. The Price Index highlights the innovativeness of this practice. The articles related to nutritional support are heterogeneous with respect to data and population, which exposes this as a limitation for a combined analysis.

The National Mental Health Registry (NMHR).

Science.gov (United States)

Aziz, A A; Salina, A A; Abdul Kadir, A B; Badiah, Y; Cheah, Y C; Nor Hayati, A; Ruzanna, Z Z; Sharifah Suziah, S M; Chee, K Y

2008-09-01

The National Mental Health Registry (NMHR) collects information about patients with mental disorder in Malaysia. This information allows us to estimate the incidence of selected mental disorders, and to evaluate risk factors and treatment in the country. The National Mental Health Registry (NMHR) presented its first report in 2004, a year after its establishment. The report focused on schizophrenia as a pioneer project for the National Mental Health Registry. The development of the registry has progressed with data collected from government-based facilities, the academia and the private sector. The 2003-2005 report was recently published and distributed. Since then the registry has progressed to include suicides and other mental illnesses such as depression. The NMHR Report 2003-2005 provides detailed information about the profile of persons with Schizophrenia who presented for the first time to various psychiatry and mental health providers throughout Malaysia. More detailed description regarding pharmacotherapy is reported and few cross tabulations done in an effort to provide better understanding and more clinically meaningful reports.

Cell-extrinsic defective lymphocyte development in Lmna(-/- mice.

Directory of Open Access Journals (Sweden)

J Scott Hale

2010-04-01

Full Text Available Mutations in the LMNA gene, which encodes all A-type lamins, result in a variety of human diseases termed laminopathies. Lmna(-/- mice appear normal at birth but become runted as early as 2 weeks of age and develop multiple tissue defects that mimic some aspects of human laminopathies. Lmna(-/- mice also display smaller spleens and thymuses. In this study, we investigated whether altered lymphoid organ sizes are correlated with specific defects in lymphocyte development.Lmna(-/- mice displayed severe age-dependent defects in T and B cell development which coincided with runting. Lmna(-/- bone marrow reconstituted normal T and B cell development in irradiated wild-type recipients, driving generation of functional and self-MHC restricted CD4(+ and CD8(+ T cells. Transplantation of Lmna(-/- neonatal thymus lobes into syngeneic wild-type recipients resulted in good engraftment of thymic tissue and normal thymocyte development.Collectively, these data demonstrate that the severe defects in lymphocyte development that characterize Lmna(-/- mice do not result directly from the loss of A-type lamin function in lymphocytes or thymic stroma. Instead, the immune defects in Lmna(-/- mice likely reflect indirect damage, perhaps resulting from prolonged stress due to the striated muscle dystrophies that occur in these mice.

The inner state differences of preterm birth rates in Brazil: a time series study.

Science.gov (United States)

de Oliveira, Rosana Rosseto; Melo, Emiliana Cristina; Fujimori, Elizabeth; Mathias, Thais Aidar de Freitas

2016-05-17

Preterm birth is a serious public health problem, as it is linked to high rates of neonatal and child morbidity and mortality. The prevalence of premature births has increased worldwide, with regional differences. The objective of this study was to analyze the trend of preterm births in the state of Paraná, Brazil, according to Macro-regional and Regional Health Offices (RHOs). This is an ecological time series study using preterm births records from the national live birth registry system of Brazil's National Health Service - Live Birth Information System (Sinasc), for residents of the state of Paraná, Brazil, between 2000 and 2013. The preterm birth rates was calculated on a yearly basis and grouped into three-year periods (2000-2002, 2003-2005, 2006-2008, 2009-2011) and one two-year period (2012-2013), according to gestational age and mother's Regional Health Office of residence. The polynomial regression model was used for trend analysis. The predominance of preterm birth rate increased from 6.8 % in 2000 to 10.5 % in 2013, with an average increase of 0.20 % per year (r(2) = 0.89), and a greater share of moderate preterm births (32 to rate of prematurity and average annual growth during that period (7.55 % and 0.35 %, respectively). The trend analysis of preterm birth rates according to RHO showed a growing trend for almost all RHOs - except for the 7(th) RHO where a declining trend was observed (-0.95 a year); and in the 20(th), 21(st) and 22(nd) RHOs which remained unchanged. In the last three-year of the study period (2011-2013), no RHO showed preterm birth rates below 7.3 % or prevalence of moderate preterm birth below 9.4 %. The results show an increase in preterm births with differences among Macro-regional and RHOs, which indicate the need to improve actions during the prenatal period according to the specificities of each region.

Occupational Disease Registries-Characteristics and Experiences.

Science.gov (United States)

Davoodi, Somayeh; Haghighi, Khosro Sadeghniat; Kalhori, Sharareh Rostam Niakan; Hosseini, Narges Shams; Mohammadzadeh, Zeinab; Safdari, Reza

2017-06-01

Due to growth of occupational diseases and also increase of public awareness about their consequences, attention to various aspects of diseases and improve occupational health and safety has found great importance. Therefore, there is the need for appropriate information management tools such as registries in order to recognitions of diseases patterns and then making decision about prevention, early detection and treatment of them. These registries have different characteristics in various countries according to their occupational health priorities. Aim of this study is evaluate dimensions of occupational diseases registries including objectives, data sources, responsible institutions, minimum data set, classification systems and process of registration in different countries. In this study, the papers were searched using the MEDLINE (PubMed) Google scholar, Scopus, ProQuest and Google. The search was done based on keyword in English for all motor engines including "occupational disease", "work related disease", "surveillance", "reporting", "registration system" and "registry" combined with name of the countries including all subheadings. After categorizing search findings in tables, results were compared with each other. Important aspects of the registries studied in ten countries including Finland, France, United Kingdom, Australia, Czech Republic, Malaysia, United States, Singapore, Russia and Turkey. The results show that surveyed countries have statistical, treatment and prevention objectives. Data sources in almost the rest of registries were physicians and employers. The minimum data sets in most of them consist of information about patient, disease, occupation and employer. Some of countries have special occupational related classification systems for themselves and some of them apply international classification systems such as ICD-10. Finally, the process of registration system was different in countries. Because occupational diseases are often

Socioeconomic position in early life, birth weight, childhood cognitive function, and adult mortality. A longitudinal study of Danish men born in 1953

DEFF Research Database (Denmark)

Osler, M; Andersen, Anne-Marie Nybo; Due, P

2003-01-01

. The data were analysed using Cox regression. SETTING: The metropolitan area of Copenhagen, Denmark. SUBJECTS: 7493 male singletons born in 1953, who completed a questionnaire with various cognitive measures, in school at age 12 years, and for whom birth certificates with data on birth and parental...... with all cause mortality. The association between father's social class and mortality attenuated (HR(working class)1.30 (1.08 to 1.56); HR(unknown class)1.81 (1.30 to 2.52)) after control for birth weight and cognitive function. Mortality from cardiovascular diseases and violent deaths was also......OBJECTIVE: To examine the relation between socioeconomic position in early life and mortality in young adulthood, taking birth weight and childhood cognitive function into account. DESIGN: A longitudinal study with record linkage to the Civil Registration System and Cause of Death Registry...

Assessing Ontario's Personal Support Worker Registry

Directory of Open Access Journals (Sweden)

Audrey Laporte

2013-08-01

Full Text Available In response to the growing role of personal support workers (PSWs in the delivery of health care services to Ontarians, the Ontario government has moved forward with the creation of a PSW registry. This registry will be mandatory for all PSWs employed by publicly funded health care employers, and has the stated objectives of better highlighting the work that PSWs do in Ontario, providing a platform for PSWs and employers to more easily access the labour market, and to provide government with information for human resources planning. In this paper we consider the factors that brought the creation of a PSW registry onto the Ontario government’s policy agenda, discuss how the registry is being implemented, and provide an analysis of the strengths and weaknesses of this policy change.

The Pediatric Emergency Care Applied Research Network Registry: A Multicenter Electronic Health Record Registry of Pediatric Emergency Care.

Science.gov (United States)

Deakyne Davies, Sara J; Grundmeier, Robert W; Campos, Diego A; Hayes, Katie L; Bell, Jamie; Alessandrini, Evaline A; Bajaj, Lalit; Chamberlain, James M; Gorelick, Marc H; Enriquez, Rene; Casper, T Charles; Scheid, Beth; Kittick, Marlena; Dean, J Michael; Alpern, Elizabeth R

2018-04-01

 Electronic health record (EHR)-based registries allow for robust data to be derived directly from the patient clinical record and can provide important information about processes of care delivery and patient health outcomes.  A data dictionary, and subsequent data model, were developed describing EHR data sources to include all processes of care within the emergency department (ED). ED visit data were deidentified and XML files were created and submitted to a central data coordinating center for inclusion in the registry. Automated data quality control occurred prior to submission through an application created for this project. Data quality reports were created for manual data quality review.  The Pediatric Emergency Care Applied Research Network (PECARN) Registry, representing four hospital systems and seven EDs, demonstrates that ED data from disparate health systems and EHR vendors can be harmonized for use in a single registry with a common data model. The current PECARN Registry represents data from 2,019,461 pediatric ED visits, 894,503 distinct patients, more than 12.5 million narrative reports, and 12,469,754 laboratory tests and continues to accrue data monthly.  The Registry is a robust harmonized clinical registry that includes data from diverse patients, sites, and EHR vendors derived via data extraction, deidentification, and secure submission to a central data coordinating center. The data provided may be used for benchmarking, clinical quality improvement, and comparative effectiveness research. Schattauer.

Registries Help Moms Measure Medication Risks

Science.gov (United States)

... in the case of the North American Antiepileptic Drug Pregnancy Registry, which studies the effects of drugs for ... is taking. For example, the North American Antiepileptic Drug Pregnancy Registry website lists more than 30 medications being ...

Birth outcomes of women with celiac disease

DEFF Research Database (Denmark)

Nørgård, Bente; Fonager, Kirsten; Sørensen, Henrik Toft

1999-01-01

OBJECTIVE: We aimed to examine birthweight, low birthweight (celiac disease in relation to their first hospitalization for the disease. METHODS: This was a historical cohort study based on The Danish Medical Birth Registry...... data of celiac women discharged from Danish hospitals from 1977-1992. The study included 211 newborns to 127 mothers with celiac disease, and 1260 control deliveries. RESULTS: Before celiac women were first hospitalized the mean birthweight of their newborns was 238 g (95% confidence interval [95% CI......] = 150, 325 g) lower than that of the control women, after adjustment for potential confounders. After the first hospitalization the mean birthweight for newborns of diseased women was higher than that of controls, by 67 g (95% CI = -88, 223 g) after adjustment for potential confounders. Before celiac...

Assessing the prevalence of spina bifida and encephalocele in a Kenyan hospital from 2005-2010: implications for a neural tube defects surveillance system.

Science.gov (United States)

Githuku, Jane N; Azofeifa, Alejandro; Valencia, Diana; Ao, Trong; Hamner, Heather; Amwayi, Samuel; Gura, Zeinab; Omolo, Jared; Albright, Leland; Guo, Jing; Arvelo, Wences

2014-01-01

Neural tube defects such as anencephaly, spina bifida, and encephalocele are congenital anomalies of the central nervous system. Data on the prevalence of neural tube defects in Kenya are limited. This study characterizes and estimates the prevalence of spina bifida and encephalocele reported in a referral hospital in Kenya from 2005-2010. Cases were defined as a diagnosis of spina bifida or encephalocele. Prevalence was calculated as the number of cases by year and province of residence divided by the total number of live-births per province. From a total of 6,041 surgical records; 1,184 (93%) had reported diagnosis of spina bifida and 88 (7%) of encephalocele. Estimated prevalence of spina bifida and encephalocele from 2005-2010 was 3.3 [95% Confidence Interval (CI): 3.1-3.5] cases per 10,000 live-births. The highest prevalence of cases were reported in 2007 with 4.4 (95% CI: 3.9-5.0) cases per 10,000 live-births. Rift Valley province had the highest prevalence of spina bifida and encephalocele at 6.9 (95% CI: 6.3-7.5) cases per 10,000 live-births from 2005-2010. Prevalence of spina bifida and encephalocele is likely underestimated, as only patients seeking care at the hospital were included. Variations in regional prevalence could be due to referral patterns and healthcare access. Implementation of a neural tube defects surveillance system would provide a more thorough assessment of the burden of neural tube defects in Kenya.

ISHKS joint registry: A preliminary report.

Science.gov (United States)

Pachore, Jawahir A; Vaidya, Shrinand V; Thakkar, Chandrasekhar J; Bhalodia, Haresh Kumar P; Wakankar, Hemant M

2013-09-01

Total knee arthroplasty (TKA) and total hip arthroplasty (THA) are the most widely practiced surgical options for arthritis all over the world and its application is rising in India. Indian Society of Hip and Knee Surgeons (ISHKS) has established a joints registry and has been collecting data for last 6 years. All members of ISHKS are encouraged to actively participate in the registry. A simple two page knee and hip form can be downloaded from the website www.ishks.com. The information collected includes patient demographics, indication for surgery, implant details and in case of revision arthroplasty: the details of implants removed and the cause of failure of primary arthroplasty. These forms are mailed to the central registry office and the data is fed in computerized registry. Data collection started in October 2006. Joint registry is a very important initiative of ISHKS and till date, have data of 34,478 TKAs and 3604 THAs, contributed by 42 surgeons across India. Some important observations have emerged. Data of 34,478 TKAs was assessed: These included 8612 males (25%) and 25,866 females (75%). Average age was 64.4 years (Osteoarthritis range: 45 to 88 years; Rheumatoid arthritis range: 22 to 74 years). Average body mass index was 29.1 (Range: 18.1 to 42.9). The indication for TKA was osteoarthritis in 33,444 (97%) and rheumatoid arthritis in 759 (2.2%). Total of 3604 THA procedures were recorded. These included 2162 (60%) male patients and 1442 (40%) female patients. Average age was 52 years (Range 17 to 85 years) and average BMI was 25.8 (Range: 17.3 to 38.5). The indications for THA was AVN in 49%. The registry will become more meaningful in years to come. Active participation of all arthroplasty surgeons across India is vital for the success of the joints registry.

Prevalencia de defectos congénitos en recién nacidos Prevalence of congenital defects in newborns

Directory of Open Access Journals (Sweden)

Olga Lidia Delgado Díaz

2007-09-01

present in a isolated way (78.7 %, and within them, more frequent were polydactyly (15.4 %, cardiopathies (6.7 %, and hipospadias (6.4 %. Down's syndrome was more frequent multiple defect seen. From results obtained, we conclude that prevalence of congenital defects at birth in this province, not differ with those reported in Cuban registry, and in related international studies.

Definition, epidemiology and registries of pulmonary hypertension.

Science.gov (United States)

Awdish, R; Cajigas, H

2016-05-01

Pulmonary arterial hypertension (PAH) is a subcategory of pulmonary hypertension (PH) that comprises a group of disorders with similar pulmonary vascular pathology. Though PH is common, the estimated incidence of IPAH is 1-3 cases per million, making it a rare disease. The hemodynamic definition of PAH is a mean pulmonary artery pressure at rest >OR = 25 mm Hg in the presence of a pulmonary capillary wedge pressure registries. These registries have been indispensable in the characterization and mapping of the natural history of the disease. Equations and risk calculators derived from registries have given clinicians a basis for risk stratification and prognostication. The sequential accumulation of data since the registries began in the 1980s allows for comparisons to be made. Patients who are differentiated by treatment eras and environments can be contrasted. Variability among inclusion criteria similarly allows for comparisons of these subpopulations. This article provides an overview of available registries, highlights insights provided by each and discusses key issues around the interpretation and extrapolation of data from PAH registries. Registries have allowed us to appreciate the improvement in survival afforded by modern therapy and enhanced detection of this disease. Moving forward, a more global approach to registries is needed, as is enhanced collaboration and centralization.

Successful vaginal birth after caesarean section in patient with Ehler-Danlos syndrome type 2

OpenAIRE

Maraj, Hemant; Mohajer, Michelle; Bhattacharjee, Deepannita

2011-01-01

We present the case of a 31-year-old woman with Ehler-Danlos syndrome (EDS) type 2. She had a previous caesarean section and went on to have an uncomplicated vaginal birth in her last pregnancy. To our knowledge, this is the first case of a successful vaginal birth after caesarean section in a patient with EDS. EDS is a multisystem disorder involving a genetic defect in collagen and connective-tissue synthesis and structure. It is a heterogeneous group of 11 different inherited disorders. Obs...

Towards a national trauma registry for the United Arab Emirates

Directory of Open Access Journals (Sweden)

Barka Ezedin

2010-07-01

Full Text Available Abstract Background Trauma is a major health problem in the United Arab Emirates (UAE as well as worldwide. Trauma registries provide large longitudinal databases for analysis and policy improvement. We aim in this paper to report on the development and evolution of a national trauma registry using a staged approach by developing a single-center registry, a two-center registry, and then a multi-center registry. The three registries were established by developing suitable data collection forms, databases, and interfaces to these databases. The first two registries collected data for a finite period of time and the third is underway. The steps taken to establish these registries depend on whether the registry is intended as a single-center or multi-center registry. Findings Several issues arose and were resolved during the development of these registries such as the relational design of the database, whether to use a standalone database management system or a web-based system, and the usability and security of the system. The inclusion of preventive medicine data elements is important in a trauma registry and the focus on road traffic collision data elements is essential in a country such as the UAE. The first two registries provided valuable data which has been analyzed and published. Conclusions The main factors leading to the successful establishment of a multi-center trauma registry are the development of a concise data entry form, development of a user-friendly secure web-based database system, the availability of a computer and Internet connection in each data collection center, funded data entry personnel well trained in extracting medical data from the medical record and entering it into the computer, and experienced personnel in trauma injuries and data analysis to continuously maintain and analyze the registry.

Validity of preeclampsia-related diagnoses recorded in a national hospital registry and in a postpartum interview of the women

DEFF Research Database (Denmark)

Klemmensen, Ase K; Olsen, Sjurdur F; Osterdal, Marie Louise

2007-01-01

In a population-based sample, the authors examined the validity of preeclampsia and related diagnoses recorded in a mandatory Danish national hospital discharge registry and in a standardized telephone interview of women who gave birth between 1998 and 2002. Using a "gold standard" for preeclamps...... defined in accordance with the guidelines from the American College of Obstetricians and Gynecologists, the authors reviewed hospital charts of 3,039 women and found that 61 of 88 preeclampsia cases (69.3%) and 24 of 55 cases of serious subtypes of preeclampsia (43.6%) were recorded...

Month of birth as a latitude-dependent risk factor for multiple sclerosis in Norway.

Science.gov (United States)

Grytten, Nina; Torkildsen, Øivind; Aarseth, Jan Harald; Benjaminsen, Espen; Celius, Elisabeth Gulowsen; Dahl, Ole Petter; Holmøy, Trygve; Løken-Amsrud, Kristin; Midgard, Rune; Myhr, Kjell-Morten; Risberg, Geir; Vatne, Anita; Kampman, Margitta T

2013-07-01

We aimed to determine if the risk of Multiple Sclerosis (MS) is associated with month of birth in Norway and to explore a possible latitudinal gradient. All patients with MS born between 1930 and 1979 registered in the Norwegian MS Registry or ascertained in Norwegian prevalence studies were included (n = 6649). The latitude gradient was divided in Southern, Middle and Northern Norway, according to the estimated regional yearly mean vitamin D effective UV dose. Risk of MS was 11% higher for those born in April (p = 0.045), and 5% higher for those born in May (p = 0.229), 5% lower for those born in November (p = 0.302) and 12% lower for those born in February (p = 0.053) compared with the corresponding population, unaffected mothers and siblings. In Southern Norway the odds ratio of MS births in April and May was 1.05 (0.98-1.24), in Middle Norway 1.11 (0.97-1.27) and in Northern Norway 1.28 (1.0-1.63) compared with the other months. This study confirms previous reports of increased MS births in spring and decreased MS births in the winter months. This could support the role of decreased sunlight exposure during pregnancy and vitamin D deficiency in prenatal life in MS.

Functional requirements regarding medical registries--preliminary results.

Science.gov (United States)

Oberbichler, Stefan; Hörbst, Alexander

2013-01-01

The term medical registry is used to reference tools and processes to support clinical or epidemiologic research or provide a data basis for decisions regarding health care policies. In spite of this wide range of applications the term registry and the functional requirements which a registry should support are not clearly defined. This work presents preliminary results of a literature review to discover functional requirements which form a registry. To extract these requirements a set of peer reviewed articles was collected. These set of articles was screened by using methods from qualitative research. Up to now most discovered functional requirements focus on data quality (e. g. prevent transcription error by conducting automatic domain checks).

Loss of cannabinoid receptor CB1 induces preterm birth.

Directory of Open Access Journals (Sweden)

Haibin Wang

2008-10-01

Full Text Available Preterm birth accounting approximate 10% of pregnancies in women is a tremendous social, clinical and economic burden. However, its underlying causes remain largely unknown. Emerging evidence suggests that endocannabinoid signaling via cannabinoid receptor CB1 play critical roles in multiple early pregnancy events in both animals and humans. Since our previous studies demonstrated that loss of CB1 defers the normal implantation window in mice, we surmised that CB1 deficiency would influence parturition events.Exploiting mouse models with targeted deletion of Cnr1, Cnr2 and Ptgs1 encoding CB1, CB2 and cyclooxygenase-1, respectively, we examined consequences of CB1 or CB2 silencing on the onset of parturition. We observed that genetic or pharmacological inactivation of CB1, but not CB2, induced preterm labor in mice. Radioimmunoassay analysis of circulating levels of ovarian steroid hormones revealed that premature birth resulting from CB1 inactivation is correlated with altered progesterone/estrogen ratios prior to parturition. More strikingly, the phenotypic defects of prolonged pregnancy length and parturition failure in mice missing Ptgs1 were corrected by introducing CB1 deficiency into Ptgs1 null mice. In addition, loss of CB1 resulted in aberrant secretions of corticotrophin-releasing hormone and corticosterone during late gestation. The pathophysiological significance of this altered corticotrophin-releasing hormone-driven endocrine activity in the absence of CB1 was evident from our subsequent findings that a selective corticotrophin-releasing hormone antagonist was able to restore the normal parturition timing in Cnr1 deficient mice. In contrast, wild-type females receiving excessive levels of corticosterone induced preterm birth.CB1 deficiency altering normal progesterone and estrogen levels induces preterm birth in mice. This defect is independent of prostaglandins produced by cyclooxygenase-1. Moreover, CB1 inactivation resulted in

The Danish Heart Registry

DEFF Research Database (Denmark)

Özcan, Cengiz; Juel, Knud; Lassen, Jens Flensted

2016-01-01

AIM: The Danish Heart Registry (DHR) seeks to monitor nationwide activity and quality of invasive diagnostic and treatment strategies in patients with ischemic heart disease as well as valvular heart disease and to provide data for research. STUDY POPULATION: All adult (≥15 years) patients...... undergoing coronary angiography (CAG), percutaneous coronary intervention (PCI), coronary artery bypass grafting, and heart valve surgery performed across all Danish hospitals were included. MAIN VARIABLES: The DHR contains a subset of the data stored in the Eastern and Western Denmark Heart Registries (EDHR...

Thyroid Cancer Incidence in New Jersey: Time Trend, Birth Cohort and Socioeconomic Status Analysis (1979–2006

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Lisa M. Roche

2011-01-01

Full Text Available The study's purpose was to investigate thyroid cancer incidence time trends, birth cohort effects, and association with socioeconomic status (SES in New Jersey (NJ, a high incidence state, using NJ State Cancer Registry data. Thyroid cancer incidence rates in each sex, nearly all age groups, two major histologies and all stages significantly increased between 1979 and 2006. For each sex, age-specific incidence rates began greatly increasing in the 1924 birth cohort and, generally, the highest thyroid cancer incidence rate for each five-year age group occurred in the latest birth cohort and diagnosis period. Thyroid cancer incidence rates were significantly higher in NJ Census tracts with higher SES and in counties with a higher percentage of insured residents. These results support further investigation into the relationship between rising thyroid cancer incidence and increasing population exposure to medical (including diagnostic radiation, as well as widespread use of more sensitive diagnostic techniques.

Sleep Disorder Diagnosis During Pregnancy and Risk of Preterm Birth.

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Felder, Jennifer N; Baer, Rebecca J; Rand, Larry; Jelliffe-Pawlowski, Laura L; Prather, Aric A

2017-09-01

To test the hypothesis that sleep disorder diagnosis would be associated with increased risk of preterm birth and to examine risk by gestational age, preterm birth type, and specific sleep disorder (insomnia, sleep apnea, movement disorder, and other). In this observational study, participants were from a cohort of nearly 3 million women in California between 2007 and 2012. Inclusion criteria were women with singleton neonates liveborn between 20 and 44 weeks of gestation without chromosomal abnormalities or major structural birth defects linked to a hospital discharge database maintained by the California Office of Statewide Health Planning and Development and without mental illness during pregnancy. Sleep disorder was defined based on International Classification of Diseases, 9th Revision, Clinical Modification diagnostic code (n=2,265). Propensity score matching was used to select a referent population at a one-to-one ratio. Odds of preterm birth were examined by gestational age (less than 34 weeks, 34-36 weeks, and less than 37 weeks of gestation) and type (spontaneous, indicated). Prevalence of preterm birth (before 37 weeks of gestation) was 10.9% in the referent group compared with 14.6% among women with a recorded sleep disorder diagnosis. Compared with the referent group, odds (95% CI, P value, percentage) of preterm birth were 1.3 (1.0-1.7, P=.023, 14.1%) for insomnia and 1.5 (1.2-1.8, P<.001, 15.5%) for sleep apnea. Risk varied by gestational age and preterm birth type. Odds of preterm birth were not significantly increased for sleep-related movement disorders or other sleep disorders. Insomnia and sleep apnea were associated with significantly increased risk of preterm birth. Considering the high prevalence of sleep disorders during pregnancy and availability of evidence-based nonpharmacologic interventions, current findings suggest that screening for severe presentations would be prudent.

Linkage between the Danish National Health Service Prescription Database, the Danish Fetal Medicine Database, and other Danish registries as a tool for the study of drug safety in pregnancy

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Pedersen LH

2016-05-01

Full Text Available Lars H Pedersen,1,2 Olav B Petersen,1,2 Mette Nørgaard,3 Charlotte Ekelund,4 Lars Pedersen,3 Ann Tabor,4 Henrik T Sørensen3 1Department of Clinical Medicine, Aarhus University, 2Department of Obstetrics and Gynecology, 3Department of Clinical Epidemiology, Aarhus University Hospital, Aarhus, 4Department of Fetal Medicine, Rigshospitalet, Copenhagen, Denmark Abstract: A linked population-based database is being created in Denmark for research on drug safety during pregnancy. It combines information from the Danish National Health Service Prescription Database (with information on all prescriptions reimbursed in Denmark since 2004, the Danish Fetal Medicine Database, the Danish National Registry of Patients, and the Medical Birth Registry. The new linked database will provide validated information on malformations diagnosed both prenatally and postnatally. The cohort from 2008 to 2014 will comprise 589,000 pregnancies with information on 424,000 pregnancies resulting in live-born children, ~420,000 pregnancies undergoing prenatal ultrasound scans, 65,000 miscarriages, and 92,000 terminations. It will be updated yearly with information on ~80,000 pregnancies. The cohort will enable identification of drug exposures associated with severe malformations, not only based on malformations diagnosed after birth but also including those having led to termination of pregnancy or miscarriage. Such combined data will provide a unique source of information for research on the safety of medications used during pregnancy. Keywords: malformations, teratology, therapeutic drug monitoring, epidemiological methods, registries

Trends in congenital anomalies in Europe from 1980 to 2012

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Springett, Anna L.; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bergman, Jorieke E. H.; Csaky-Szunyogh, Melinda; Dias, Carlos; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; McDonnell, Robert; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Kurinczuk, Jennifer; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Dolk, Helen

2018-01-01

Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003–2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation. PMID:29621304

The role of registries in rare genetic lipid disorders: Review and introduction of the first global registry in lipoprotein lipase deficiency.

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Steinhagen-Thiessen, Elisabeth; Stroes, Erik; Soran, Handrean; Johnson, Colin; Moulin, Philippe; Iotti, Giorgio; Zibellini, Marco; Ossenkoppele, Bas; Dippel, Michaela; Averna, Maurizio R

2017-07-01

A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera ® ) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan. The aim of this publication is to introduce the GENIALL Registry within a structured literature review of registries in rare genetic lipid disorders. A total of 11 relevant initiatives/registries were identified (homozygous Familial Hypercholesterolemia (hoFH) [n = 5]; LPLD [n = 1]; Lysosomal Acid Lipase Deficiency [LALD, n = 1], detection of mutations in genetic lipid disorders [n = 4]). Besides one product registry in hoFH and the LALD registry, all other initiatives are local or country-specific. GENIALL is the first global prospective registry in LPLD that will collect physician and patient generated data on the natural course of LPLD, as well as long-term outcomes of gene therapy. There is a limited number of international initiatives focusing on the natural course of specific rare genetic lipid disorders. The GENIALL LPLD Registry could be the first step towards a future broader global initiative that collects data related to familial chylomicronemia syndrome and their underlying genetic causes. Copyright © 2016. Published by Elsevier B.V.

Separate Influences of Birth Order and Gravidity/Parity on the Development of Systemic Sclerosis

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COCKRILL, TONYA; del JUNCO, DEBORAH J.; ARNETT, FRANK C.; ASSASSI, SHERVIN; TAN, FILEMON K.; McNEARNEY, TERRY; FISCHBACH, MICHAEL; PERRY, MARILYN; MAYES, MAUREEN D.

2010-01-01

Objective Birth order has been valuable in revealing the role of environmental influences on the risk of developing certain diseases such as allergy and atopy. In addition, pregnancy has profound effects on the immune system such as short-term effects that permit fetal survival as well as longer-term effects that could influence late-onset diseases. In order to better evaluate these influences, we studied the association of birth order and gravidity/parity as risk factors for systemic sclerosis (SSc; scleroderma). Methods Data regarding SSc cases and their unaffected sibling controls were obtained from the Scleroderma Family Registry and DNA Repository. The case-sibling design was used to minimize confounding due to differences in age, race, ethnicity, or calendar time. The gravidity/parity analysis was based on sibships with at least one SSc-affected and one unaffected sister. Results Birth order was examined in 974 sibships, comparing SSc cases (n = 987) with their unaffected siblings (n = 3,088). The risk of scleroderma increased with increasing birth order (odds ratio [OR] 1.25, 95% confidence interval [95% CI] 1.06–1.50 for birth order 2–5; OR 2.22, 95% CI 1.57–3.15 for birth order 6–9; and OR 3.53, 95% CI 1.68–7.45 for birth order 10–15). Gravidity/parity was analyzed in 168 sibships (256 unaffected sisters, 172 SSc cases). We found an association between a history of one or more pregnancies and SSc (OR 2.8). Conclusion Birth order and pregnancy were independently associated with a higher risk of developing SSc. These findings suggest that immune development in early childhood and/or pregnancy-associated events, including but not limited to microchimerism, plays a role in SSc susceptibility. PMID:20391489

Separate influences of birth order and gravidity/parity on the development of systemic sclerosis.

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Cockrill, Tonya; del Junco, Deborah J; Arnett, Frank C; Assassi, Shervin; Tan, Filemon K; McNearney, Terry; Fischbach, Michael; Perry, Marilyn; Mayes, Maureen D

2010-03-01

Birth order has been valuable in revealing the role of environmental influences on the risk of developing certain diseases such as allergy and atopy. In addition, pregnancy has profound effects on the immune system such as short-term effects that permit fetal survival as well as longer-term effects that could influence late-onset diseases. In order to better evaluate these influences, we studied the association of birth order and gravidity/parity as risk factors for systemic sclerosis (SSc; scleroderma). Data regarding SSc cases and their unaffected sibling controls were obtained from the Scleroderma Family Registry and DNA Repository. The case-sibling design was used to minimize confounding due to differences in age, race, ethnicity, or calendar time. The gravidity/parity analysis was based on sibships with at least one SSc-affected and one unaffected sister. Birth order was examined in 974 sibships, comparing SSc cases (n = 987) with their unaffected siblings (n = 3,088). The risk of scleroderma increased with increasing birth order (odds ratio [OR] 1.25, 95% confidence interval [95% CI] 1.06-1.50 for birth order 2-5; OR 2.22, 95% CI 1.57-3.15 for birth order 6-9; and OR 3.53, 95% CI 1.68-7.45 for birth order 10-15). Gravidity/parity was analyzed in 168 sibships (256 unaffected sisters, 172 SSc cases). We found an association between a history of one or more pregnancies and SSc (OR 2.8). Birth order and pregnancy were independently associated with a higher risk of developing SSc. These findings suggest that immune development in early childhood and/or pregnancy-associated events, including but not limited to microchimerism, plays a role in SSc susceptibility.

Gross congenital malformation at birth in a government hospital.

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Sachdeva, Sandeep; Nanda, Smiti; Bhalla, Kapil; Sachdeva, Ruchi

2014-01-01

A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF) occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks) with three leading malformation as anencephaly (44.68%), talipes equinovarus (17.02%) and meningomyelocele (10.63%). Higher risk of malformed births were noticed amongst un-booked (2.07%) in-comparison to booked (1.01%) mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]); gravida status of at least 3 (2.69%) followed by 1 (1.43%) and 2 (1.0%) respectively; pre-term (5.13%) vs. term (0.66%); cesarean section (4.36%) versus vaginal delivery (0.62%). Mortality was significantly higher among congenitally malformed (17.35%) than normal (0.34%) newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid) that needs appropriate attention and management.

Osterix-Cre transgene causes craniofacial bone development defect

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Wang, Li; Mishina, Yuji; Liu, Fei

2015-01-01

The Cre/loxP system has been widely used to generate tissue-specific gene knockout mice. Inducible (Tet-off) Osx-GFP::Cre (Osx-Cre) mouse line that targets osteoblasts is widely used in the bone research field. In this study, we investigated the effect of Osx-Cre on craniofacial bone development. We found that newborn Osx-Cre mice showed severe hypomineralization in parietal, frontal, and nasal bones as well as the coronal sutural area when compared to control mice. As the mice matured the intramembranous bone hypomineralization phenotype became less severe. The major hypomineralization defect in parietal, frontal, and nasal bones had mostly disappeared by postnatal day 21, but the defect in sutural areas persisted. Importantly, Doxycycline treatment eliminated cranial bone defects at birth which indicates that Cre expression may be responsible for the phenotype. In addition, we showed that the primary calvarial osteoblasts isolated from neonatal Osx-Cre mice had comparable differentiation ability compared to their littermate controls. This study reinforces the idea that Cre positive litter mates are indispensable controls in studies using conditional gene deletion. PMID:25550101

Danish Hip Arthroscopy Registry (DHAR)

DEFF Research Database (Denmark)

Lund, Bent; Mygind-Klavsen, Bjarne; Grønbech Nielsen, Torsten

2017-01-01

The Danish Hip Arthroscopy Registry (DHAR) was initiated in January 2012 as a web-based prospective registry. The purpose of this study was to evaluate and report the first registry based outcome data of a national population with radiological and clinical femoroacetabular impingement (FAI......) undergoing hip arthroscopic treatment. Our primary hypothesis was that patients undergoing hip arthroscopy would improve significantly in pain, quality of life and sports related outcome measurements in Patient Related Outcome Measures (PROM). Peri-operative data and Patient Reported Outcome Measures (PROM......-5 D demonstrated improvement after 1 and 2 years from 0.66 pre-op to 0.78 at 2 years. HSAS improved significantly from 2.5 to 3.3. Pain score data demonstrated improvement in NRS-rest 39 to 17 and NRS Walk 49 to 22 at follow-up. We conclude that patients with FAI undergoing hip arthroscopy...

Planned home compared with planned hospital births in the Netherlands: intrapartum and early neonatal death in low-risk pregnancies.

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van der Kooy, Jacoba; Poeran, Jashvant; de Graaf, Johanna P; Birnie, Erwin; Denktasş, Semiha; Steegers, Eric A P; Bonsel, Gouke J

2011-11-01

The purpose of our study was to compare the intrapartum and early neonatal mortality rate of planned home birth with planned hospital birth in community midwife-led deliveries after case mix adjustment. The perinatal outcome of 679,952 low-risk women was obtained from the Netherlands Perinatal Registry (2000-2007). This group represents all women who had a choice between home and hospital birth. Two different analyses were performed: natural prospective approach (intention-to-treat-like analysis) and perfect guideline approach (per-protocol-like analysis). Unadjusted and adjusted odds ratios (ORs) were calculated. Case mix was based on the presence of at least one of the following: congenital abnormalities, small for gestational age, preterm birth, or low Apgar score. We also investigated the potential risk role of intended place of birth. Multivariate stepwise logistic regression was used to investigate the potential risk role of intended place of birth. Intrapartum and neonatal death at 0-7 days was observed in 0.15% of planned home compared with 0.18% in planned hospital births (crude relative risk 0.80, 95% confidence interval [CI] 0.71-0.91). After case mix adjustment, the relation is reversed, showing nonsignificant increased mortality risk of home birth (OR 1.05, 95% CI 0.91-1.21). In certain subgroups, additional mortality may arise at home if risk conditions emerge at birth (up to 20% increase). Home birth, under routine conditions, is generally not associated with increased intrapartum and early neonatal death, yet in subgroups, additional risk cannot be excluded.

A description and comparison of selected forest carbon registries: a guide for States considering the development of a forest carbon registry

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Jessica Call; Jennifer Hayes

2007-01-01

There is increasing interest in tools for measuring and reducing emissions of carbon dioxide, a major greenhouse gas. Two tools that have been receiving a lot of attention include carbon markets and carbon registries. Carbon registries are established to record and track net carbon emission levels over time. These registries provide quantifiable and verifiable carbon...

Validity of parental work information on the birth certificate

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Langlois Peter H

2008-03-01

Full Text Available Abstract Background In the most recent revision (2003 of the U.S. standard certificate of live births, the National Center for Health Statistics recommended that all states collect maternal and paternal usual occupation. Because such information might be useful in the surveillance of job-related risk areas, we assessed the quality of parental work information on the U.S. birth certificate. Methods Occupational histories obtained from maternal interviews with Texas (USA participants in the National Birth Defects Prevention Study were linked to and compared with parental work information on birth certificates. With occupational information from interviews serving as the gold standard, we assessed the quality of occupational information on the birth certificate with measures of sensitivity, specificity, and the kappa statistic. Results Of the 649 births available for study, parental occupation agreed between the birth certificate and interview for 77% of mothers and 63% of fathers with similar agreement by case-control status. Among occupations and industries with 10 or more workers by interview, sensitivity of the birth certificate information ranged from 35% to 100% for occupational groups and 55% to 100% for industrial sectors. Specificities of occupations/industries studied ranged from 93 to 100%. Kappa statistics for maternal occupations (0.76 to 0.90 and industries (0.59 to 0.94 were higher than those for paternal occupations (0.48 to 0.92 and industries (0.47 to 0.89. Mothers were frequently misclassified as homemakers or otherwise unemployed while the paternal information was often missing altogether on the birth certificate. Women who worked as health diagnosing and treating practitioners were the least likely (0% and women in food preparation or serving occupations were the most likely (65% to be misclassified as not employed on the birth certificate. Among fathers, the proportion of missing occupations was the lowest for occupations in

Agency for Toxic Substances and Disease Registry

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... Z # Search Form Controls Search The CDC submit Agency for Toxic Substances and Disease Registry Note: Javascript ... gov . Recommend on Facebook Tweet Share Compartir The Agency for Toxic Substances and Disease Registry (ATSDR) , based ...

Cohort profile: cerebral palsy in the Norwegian and Danish birth cohorts (MOBAND-CP)

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Tollånes, Mette C; Strandberg-Larsen, Katrine; Forthun, Ingeborg; Petersen, Tanja Gram; Moster, Dag; Andersen, Anne-Marie Nybo; Stoltenberg, Camilla; Olsen, Jørn; Wilcox, Allen J

2016-01-01

Purpose The purpose of MOthers and BAbies in Norway and Denmark cerebral palsy (MOBAND-CP) was to study CP aetiology in a prospective design. Participants MOBAND-CP is a cohort of more than 210 000 children, created as a collaboration between the world's two largest pregnancy cohorts—the Norwegian Mother and Child Cohort study (MoBa) and the Danish National Birth Cohort. MOBAND-CP includes maternal interview/questionnaire data collected during pregnancy and follow-up, plus linked information from national health registries. Findings to date Initial harmonisation of data from the 2 cohorts has created 140 variables for children and their mothers. In the MOBAND-CP cohort, 438 children with CP have been identified through record linkage with validated national registries, providing by far the largest such sample with prospectively collected detailed pregnancy data. Several studies investigating various hypotheses regarding CP aetiology are currently on-going. Future plans Additional data can be harmonised as necessary to meet requirements of new projects. Biological specimens collected during pregnancy and at delivery are potentially available for assay, as are results from assays conducted on these specimens for other projects. The study size allows consideration of CP subtypes, which is rare in aetiological studies of CP. In addition, MOBAND-CP provides a platform within the context of a merged birth cohort of exceptional size that could, after appropriate permissions have been sought, be used for cohort and case-cohort studies of other relatively rare health conditions of infants and children. PMID:27591025

Dementia registries around the globe and their applications: A systematic review.

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Krysinska, Karolina; Sachdev, Perminder S; Breitner, John; Kivipelto, Miia; Kukull, Walter; Brodaty, Henry

2017-09-01

Patient registries are valuable tools helping to address significant challenges in research, care, and policy. Registries, well embedded in many fields of medicine and public health, are relatively new in dementia. This systematic review presents the current situation in regards to dementia registries worldwide. We identified 31 dementia registries operating on an international, national, or local level between 1986 and 2016. More than half of the registries aimed to conduct or facilitate research, including preclinical research registries and registries recruiting research volunteers. Other dementia registries collected epidemiological or quality of care data. We present evidence of practical and economic outcomes of registries for research, clinical practice and policy, and recommendations for future development. Global harmonization of recruitment methods and minimum data would facilitate international comparisons. Registries provide a positive return on investment; their establishment and maintenance require ongoing support by government, policy makers, research funding bodies, clinicians, and individuals with dementia and their caregivers. Copyright © 2017 the Alzheimer's Association. All rights reserved.

Omphalocele, exstrophy of cloaca, imperforate anus, and spinal defect complex, multiple major reconstructive surgeries needed

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Nada Neel

2018-01-01

Full Text Available OEIS complex is a rare combination of serious birth defects including omphalocele, exstrophy of cloaca, imperforate anus, and spinal defects. The aim of managements has shifted from merely providing survival to improve patient outcomes and quality of life with higher level of physical and social independence. Multiple complicated reconstructive surgeries always needed for achieving the goals of treatment. In this case report, we aimed to present our surgical approach for this rare abnormality to achieve functionally and socially acceptable outcome.