Increased prevalence of some birth defects in Korea, 2009-2010.

PubMed

Lamichhane, Dirga Kumar; Leem, Jong-Han; Park, Myungsook; Kim, Jung Ae; Kim, Hwan Cheol; Kim, Jin Hee; Hong, Yun-Chul

2016-03-22

Birth defects are a leading cause of neonatal and infant mortality, and several studies have indicated an increase in the prevalence of birth defects; more recent investigations have suggested that the trends of some defects are increasing in rapidly industrialized areas. This study estimates the prevalence rate and types of birth defects in Korea. This study used medical insurance benefit data of 403,250 infants aged less than one year from the National Health Insurance Corporation from seven metropolitan areas in Korea for 2009 and 2010. The prevalence rate of birth defects was 548.3 per 10,000 births (95% CI: 541.1-555.6), 306.8 among boys and 241.5 among girls. Anomalies of the circulatory system (particularly septal defects) were the most common (180.8 per 10,000), followed by defects of the genitourinary tract (130.1 per 10,000) (particularly obstructive genitourinary and undescended testis), musculoskeletal system (105.7 per 10,000), digestive system (24.7 per 10,000), and central nervous system (15.6 per 10,000). Relatively higher rates of some birth defects were found in the metropolitan areas. The high differences of birth prevalences for septal heart defects and undescended testis are probably due in part to progress in clinical management and more frequent prenatal diagnosis. Environmental exposure might play a critical role in the development of some birth defects. In attempting to describe the prevalence and spatio-temporal variations of birth defects in Korea, establishment of a registry system of birth defects and environmental surveillance are needed.

Assisted Reproductive Technology and Birth Defects Among Liveborn Infants in Florida, Massachusetts, and Michigan, 2000-2010.

PubMed

Boulet, Sheree L; Kirby, Russell S; Reefhuis, Jennita; Zhang, Yujia; Sunderam, Saswati; Cohen, Bruce; Bernson, Dana; Copeland, Glenn; Bailey, Marie A; Jamieson, Denise J; Kissin, Dmitry M

2016-06-06

Use of assisted reproductive technology (ART) has been associated with increased risks for birth defects. Variations in birth defect risks according to type of ART procedure have been noted, but findings are inconsistent. To examine the prevalence of birth defects among liveborn infants conceived with and without ART and to evaluate risks associated with certain ART procedures among ART-conceived infants. Used linked ART surveillance, birth certificates, and birth defects registry data for 3 states (Florida, Massachusetts, and Michigan). Methods for ascertaining birth defect cases varied by state. Resident live births during 2000 to 2010 were included, and the analysis was conducted between Feburary 2015 and August 2015. Use of ART among all live births and use of certain ART procedures among ART births. Prevalence of selected chromosomal and nonchromosomal birth defects that are usually diagnosed at or immediately after birth. Of the 4 618 076 liveborn infants between 2000 and 2010, 64 861 (1.4%) were conceived using ART. Overall, the prevalence of 1 or more of the selected nonchromosomal defects was 58.59 per 10 000 for ART infants (n = 389) vs 47.50 per 10 000 for non-ART infants (n = 22 036). The association remained significant after adjusting for maternal characteristics and year of birth (adjusted risk ratio [aRR], 1.28; 95% CI, 1.15-1.42). Similar differences were observed for singleton ART births vs their non-ART counterparts (63.69 per 10 000 [n = 218] vs 47.17 per 10 000 [n = 21 251]; aRR, 1.38; 95% CI, 1.21-1.59). Among multiple births, the prevalence of rectal and large intestinal atresia/stenosis was higher for ART births compared with non-ART births (aRR, 2.39; 95% CI, 1.38-4.12). Among ART births conceived after fresh embryo transfer, infants born to mothers with ovulation disorders had a higher prevalence of nonchromosomal birth defects (aRR, 1.53; 95% CI, 1.13-2.06) than those born to mothers without the diagnosis, and use of assisted hatching was associated with birth defects among singleton births (aRR, 1.55; 95% CI, 1.10-2.19). Multiplicity-adjusted P values for these associations were greater than .05. Infants conceived after ART had a higher prevalence of certain birth defects. Assisted hatching and diagnosis of ovulation disorder were marginally associated with increased risks for nonchromosomal birth defects; however, these associations may be caused by other underlying factors.

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.

PubMed

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.

Prevalence of birth defects among American-Indian births in California, 1983-2010.

PubMed

Aggarwal, Deepa; Warmerdam, Barbara; Wyatt, Katrina; Ahmad, Shabbir; Shaw, Gary M

2015-02-01

Approximately 6.3 million live births and fetal deaths occurred during the ascertainment period in the California Birth Defects Monitoring Program registry. American-Indian and non-Hispanic white women delivered 40,268 and 2,044,118 births, respectively. While much information has been published about non-Hispanic white infants, little is known regarding the risks of birth defects among infants born to American-Indian women. This study used data from the California Birth Defects Monitoring Program to explore risks of selected birth defects in offspring of American-Indian relative to non-Hispanic white women in California. The study population included all live births and fetal deaths 20 weeks or greater from 1983 to 2010. Prevalence ratios and corresponding 95% confidence intervals (CI) were computed using Poisson regression for 51 groupings of birth defects. Prevalence ratios were estimated for 51 groupings of birth defects. Of the 51, nine had statistically precise results ranging from 0.78 to 1.85. The eight groups with elevated risks for American-Indian births were reduction deformities of brain, anomalies of anterior segments, specified anomalies of ear, ostium secundum type atrial septal defect, specified anomalies of heart, anomalies of the aorta, anomalies of great veins, and cleft lip with cleft palate. Our results suggest that American-Indian women having babies in California may be at higher risk for eight birth defect phenotypes compared with non-Hispanic whites. Further research is needed to determine whether these risks are observed among other populations of American-Indian women or when adjusted for potential covariates. © 2015 Wiley Periodicals, Inc.

Assisted Reproductive Technology and Birth Defects Among Liveborn Infants in Florida, Massachusetts, and Michigan, 2000–2010

PubMed Central

Boulet, Sheree L.; Kirby, Russell S.; Reefhuis, Jennita; Zhang, Yujia; Sunderam, Saswati; Cohen, Bruce; Bernson, Dana; Copeland, Glenn; Bailey, Marie A.; Jamieson, Denise J.; Kissin, Dmitry M.

2016-01-01

IMPORTANCE Use of assisted reproductive technology (ART) has been associated with increased risks for birth defects. Variations in birth defect risks according to type of ART procedure have been noted, but findings are inconsistent. OBJECTIVES To examine the prevalence of birth defects among liveborn infants conceived with and without ART and to evaluate risks associated with certain ART procedures among ART-conceived infants. DESIGN, SETTING, AND PARTICIPANTS Used linked ART surveillance, birth certificates, and birth defects registry data for 3 states (Florida, Massachusetts, and Michigan). Methods for ascertaining birth defect cases varied by state. Resident live births during 2000 to 2010 were included, and the analysis was conducted between Feburary 2015 and August 2015. EXPOSURES Use of ART among all live births and use of certain ART procedures among ART births. MAIN OUTCOME AND MEASURES Prevalence of selected chromosomal and nonchromosomal birth defects that are usually diagnosed at or immediately after birth. RESULTS Of the 4 618 076 liveborn infants between 2000 and 2010, 64 861 (1.4%) were conceived using ART. Overall, the prevalence of 1 or more of the selected nonchromosomal defects was 58.59 per 10 000 for ART infants (n = 389) vs 47.50 per 10 000 for non-ART infants (n = 22 036). The association remained significant after adjusting for maternal characteristics and year of birth (adjusted risk ratio [aRR], 1.28; 95%CI, 1.15–1.42). Similar differences were observed for singleton ART births vs their non-ART counterparts (63.69 per 10 000 [n = 218] vs 47.17 per 10 000 [n = 21 251]; aRR, 1.38; 95%CI, 1.21–1.59). Among multiple births, the prevalence of rectal and large intestinal atresia/stenosis was higher for ART births compared with non-ART births (aRR, 2.39; 95%CI, 1.38–4.12). Among ART births conceived after fresh embryo transfer, infants born to mothers with ovulation disorders had a higher prevalence of nonchromosomal birth defects (aRR, 1.53; 95%CI, 1.13–2.06) than those born to mothers without the diagnosis, and use of assisted hatching was associated with birth defects among singleton births (aRR, 1.55; 95%CI, 1.10–2.19). Multiplicity-adjusted P values for these associations were greater than .05. CONCLUSIONS AND RELEVANCE Infants conceived after ART had a higher prevalence of certain birth defects. Assisted hatching and diagnosis of ovulation disorder were marginally associated with increased risks for nonchromosomal birth defects; however, these associations may be caused by other underlying factors. PMID:27043648

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

PubMed

Howley, Meredith M; Browne, Marilyn L; Van Zutphen, Alissa R; Richardson, Sandra D; Blossom, Sarah J; Broussard, Cheryl S; Carmichael, Suzan L; Druschel, Charlotte M

2016-11-01

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

Stability of Bovine viral diarrhea virus 1 nucleic acid in fetal bovine samples stored under different conditions

USDA-ARS?s Scientific Manuscript database

Infection of pregnant cattle with bovine viral diarrhea viruses can result in reproductive disease that includes fetal reabsorption, mummification, abortion, still births, congenital defects affecting structural, neural, reproductive and immune systems and the birth of calves persistently infected w...

Observational Cohort Study of Pregnancy Outcome after First-Trimester Exposure to Fluoroquinolones

PubMed Central

Wacker, Evelin; Meister, Reinhard; Panse, Mary; Weber-Schoendorfer, Corinna; Oppermann, Marc; Schaefer, Christof

2014-01-01

Fluoroquinolones are avoided during pregnancy due to developmental toxicity in animals. The aim of this study was to assess the fetal risk after intrauterine fluoroquinolone exposure. We performed an observational study of a prospectively ascertained cohort of pregnant women exposed to a fluoroquinolone during the first trimester. Pregnancy outcomes were compared to those of a cohort exposed to neither fluoroquinolones nor teratogenic or fetotoxic drugs. The outcomes evaluated were major birth defects (structural abnormalities of medical, surgical, or cosmetic relevance), spontaneous abortion, and elective termination of pregnancy. Pregnancy outcomes of 949 women with fluoroquinolone treatment were compared with those of 3,796 nonexposed controls. Neither the rate of major birth defects (2.4%; adjusted odds ratio [ORadj], 0.91; 95% confidence interval [CI], 0.6 to 1.5) nor the risk of spontaneous abortion (adjusted hazard ratio [HRadj], 1.01; 95% CI, 0.8 to 1.3) was increased. However, there was a nonsignificant increase in major birth defects after exposure to moxifloxacin (6/93, 6.5%; crude odds ratio [ORcrude], 2.40; 95% CI, 0.8 to 5.6). Neither a critical exposure time window within the first trimester nor a specific pattern of birth defects was demonstrated for any of the fluoroquinolones. The rate of electively terminated pregnancies was increased among the fluoroquinolone-exposed women (HRadj, 1.32; 95% CI, 1.03 to 1.7). The gestational ages at delivery and birth weights did not differ between groups. Our study did not detect an increased risk of spontaneous abortion or major birth defects. These reassuring findings support the recommendation to allow fluoroquinolone use in early pregnancy in selected cases. After the use of moxifloxacin, a detailed fetal ultrasound examination should be considered. PMID:24841264

Fostering International Collaboration in Birth Defects Research and Prevention: A Perspective From the International Clearinghouse for Birth Defects Surveillance and Research

PubMed Central

Botto, Lorenzo D.; Robert-Gnansia, Elisabeth; Siffel, Csaba; Harris, John; Borman, Barry; Mastroiacovo, Pierpaolo

2006-01-01

The International Clearing-house for Birth Defects Surveillance and Research, formerly known as International Clearinghouse of Birth Defects Monitoring Systems, consists of 40 registries worldwide that collaborate in monitoring 40 types of birth defects. Clearinghouse activities include the sharing and joint monitoring of birth defect data, epidemiologic and public health research, and capacity building, with the goal of reducing disease and promoting healthy birth outcomes through primary prevention. We discuss 3 of these activities: the collaborative assessment of the potential teratogenicity of first-trimester use of medications (the MADRE project), an example of the intersection of surveillance and research; the international databases of people with orofacial clefts, an example of the evolution from surveillance to outcome research; and the study of genetic polymorphisms, an example of collaboration in public health genetics. PMID:16571708

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

PubMed

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.

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

ERIC Educational Resources Information Center

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…

Birth Defects among Infants Born to Women Who Received Anthrax Vaccine in Pregnancy

DTIC Science & Technology

2008-07-02

Department of Defense Birth Defects Registry: overview of a new surveillance system. Teratology 2001;64(suppl 1):S26–9. 22. National Birth Defects... Teratology 2002;66:326–30. 29. Ryan MAK, Gumbs GR, Conlin AMS, et al. Evaluation of preterm births and birth defects in liveborn infants of US military...fetal malformations. Teratology 2000;62:413–19. 39. Yitzhakie D, Torchinsky A, Savion S, et al. Maternal immu- nopotentiation affects the teratogenic

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.

PubMed

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, Inc.

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).

PubMed

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.

Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography

PubMed Central

Deniz, Engin; Jonas, Stephan; Hooper, Michael; N. Griffin, John; Choma, Michael A.; Khokha, Mustafa K.

2017-01-01

Birth defects affect 3% of children in the United States. Among the birth defects, congenital heart disease and craniofacial malformations are major causes of mortality and morbidity. Unfortunately, the genetic mechanisms underlying craniocardiac malformations remain largely uncharacterized. To address this, human genomic studies are identifying sequence variations in patients, resulting in numerous candidate genes. However, the molecular mechanisms of pathogenesis for most candidate genes are unknown. Therefore, there is a need for functional analyses in rapid and efficient animal models of human disease. Here, we coupled the frog Xenopus tropicalis with Optical Coherence Tomography (OCT) to create a fast and efficient system for testing craniocardiac candidate genes. OCT can image cross-sections of microscopic structures in vivo at resolutions approaching histology. Here, we identify optimal OCT imaging planes to visualize and quantitate Xenopus heart and facial structures establishing normative data. Next we evaluate known human congenital heart diseases: cardiomyopathy and heterotaxy. Finally, we examine craniofacial defects by a known human teratogen, cyclopamine. We recapitulate human phenotypes readily and quantify the functional and structural defects. Using this approach, we can quickly test human craniocardiac candidate genes for phenocopy as a critical first step towards understanding disease mechanisms of the candidate genes. PMID:28195132

Early prenatal exposure to air pollution and its associations with birth defects in a state-wide birth cohort from North Carolina.

PubMed

Vinikoor-Imler, Lisa C; Davis, J Allen; Meyer, Robert E; Luben, Thomas J

2013-10-01

Few studies have examined the potential relationship between air pollution and birth defects. The objective of this study was to investigate whether maternal exposure to particulate matter (PM2.5 ) and ozone (O3 ) during pregnancy is associated with birth defects among women living throughout North Carolina. Information on maternal and infant characteristics was obtained from North Carolina birth certificates and health service data (2003-2005) and linked with information on birth defects from the North Carolina Birth Defects Monitoring Program. The 24-hr PM2.5 and O3 concentrations were estimated using a hierarchical Bayesian model of air pollution generated by combining modeled air pollution predictions from the U.S. Environmental Protection Agency's Community Multi-Scale Air Quality model with air monitor data from the Environmental Protection Agency's Air Quality System. Maternal residence was geocoded and assigned pollutant concentrations averaged over weeks 3 to 8 of gestation. Binomial regression was performed and adjusted for potential confounders. No association was observed between either PM2.5 or O3 concentrations and most birth defects. Positive effect estimates were observed between air pollution and microtia/anotia and lower limb deficiency defects, but the 95% confidence intervals were wide and included the null. Overall, this study suggested a possible relationship between air pollution concentration during early pregnancy and certain birth defects (e.g., microtia/anotia, lower limb deficiency defects), although this study did not have the power to detect such an association. The risk for most birth defects does not appear to be affected by ambient air pollution. Copyright © 2013 Wiley Periodicals, Inc.

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

PubMed Central

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

Traffic-related air pollution and selected birth defects in the San Joaquin Valley of California.

PubMed

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

2013-11-01

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. 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. 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. Most analyses showed no substantive association between air pollution and the selected birth defects with few exceptions of mixed results. Copyright © 2013 Wiley Periodicals, Inc.

Cleft extension and risks of other birth defects in children with isolated cleft palate.

PubMed

Chetpakdeechit, Woranuch; Mohlin, Bengt; Persson, Christina; Hagberg, Catharina

2010-03-01

To study the risks of having other birth defects in children born with an isolated cleft palate (iCP) when the length of the cleft was taken into account. The hypothesis was that a newborn with an extensive cleft lesion may have an increased risk of other birth defects compared to a child with a less extensive cleft of the palate. All Caucasian children with iCP born between 1975 and 2005 in the southwestern region of Sweden were included. Data were collected from standardized medical records and the length of the cleft was checked on the pre-surgical dental cast for each child. A total of 343 children were born with an iCP. The incidence was 0.64/1000 live births. Thirty-four percent of children with either a total or partial iCP had other birth defects. The risk was 1.7 times higher for a total compared to a partial iCP. The two most common birth defects were congenital heart disease and intellectual disability. Ear problems related to infections were registered in 43% of cases. Fifteen percent of the children had the Pierre Robin sequence, which was analyzed as a separate variable and not included as a birth defect. The length of the iCP was found to influence the risk of having another birth defect as the total palatal clefts were more often combined with other birth defects compared to partial clefts. Careful medical check-ups are important for newborns with iCP since they have increased risks of other birth defects.

RESIDENTIAL RADON AND BIRTH DEFECTS: A POPULATION-BASED ASSESSMENT

PubMed Central

Langlois, Peter H; Lee, MinJae; Lupo, Philip J; Rahbar, Mohammad H; Cortez, Ruben K

2015-01-01

BACKGROUND Associations have been reported between maternal radiation exposure and birth defects. No such studies were found on radon. Our objective was to determine if there is an association between living in areas with higher radon levels and birth defects. METHODS The Texas Birth Defects Registry provided data on all birth defects from 1999–2009 from the entire state. Mean radon levels by geologic region came from the Texas Indoor Radon Survey. The association between radon and birth defects was estimated using multilevel mixed effect Poisson regression. RESULTS Birth defects overall were not associated with residential radon levels. Of the 100 other birth defect groups with at least 500 cases, 14 were significantly elevated in areas with high mean radon level in crude analyses, and 9 after adjustment for confounders. Cleft lip with/without cleft palate had an adjusted prevalence ratio (aPR) of 1.16 per 1 picoCurie/liter (pCi/l) increase in exposure to region mean radon, 95% confidence interval (CI) 1.08, 1.26. Cystic hygroma / lymphangioma had an aPR of 1.22 per 1 pCi/l increase, 95% CI 1.02, 1.46. Other associations were suggested but not as consistent: three skeletal defects, Down syndrome, other specified anomalies of the brain, and other specified anomalies of the bladder and urethra. CONCLUSIONS In the first study of residential radon and birth defects, we found associations with cleft lip w/wo cleft palate and cystic hygroma / lymphangioma. Other associations were suggested. The ecological nature of this study and multiple comparisons suggest that our results be interpreted with caution. PMID:25846606

Maternal Autoimmune Disease and Birth Defects in the National Birth Defects Prevention Study

PubMed Central

Howley, Meredith M.; Browne, Marilyn L.; Van Zutphen, Alissa R.; Richardson, Sandra D.; Blossom, Sarah J.; Broussard, Cheryl S.; Carmichael, Suzan L.; Druschel, Charlotte M.

2017-01-01

Background Little is known about the association between maternal autoimmune disease or its treatment and the risk of birth defects. We examined these associations using data from the National Birth Defects Prevention Study, a multi-site, population-based, case–control study. Methods Analyses included 25,116 case and 9897 unaffected control infants with estimated delivery dates between 1997 and 2009. Information on autoimmune disease, medication use, and other pregnancy exposures was collected by means of telephone interview. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for birth defects with five or more exposed cases; crude ORs and exact 95% CIs were estimated for birth defects with three to four exposed cases. Results Autoimmune disease was reported by 373 mothers (279 case and 94 control mothers). The majority of birth defects evaluated were not associated with autoimmune disease; however, a statistically significant association between maternal autoimmune disease and encephalocele was observed (OR, 4.64; 95% CI, 1.95–11.04). Eighty-two mothers with autoimmune disease used an immune modifying/suppressing medication during pregnancy; this was associated with encephalocele (OR, 7.26; 95% CI, 1.37–24.61) and atrial septal defects (OR, 3.01; 95% CI, 1.16–7.80). Conclusion Our findings suggest maternal autoimmune disease and treatment are not associated with the majority of birth defects, but may be associated with some defects, particularly encephalocele. Given the low prevalence of individual autoimmune diseases and the rare use of specific medications, we were unable to examine associations of specific autoimmune diseases and medications with birth defects. Other studies are needed to confirm these findings. PMID:27891777

Insights from Parents about Caring for a Child with Birth Defects

PubMed Central

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

Risk of limb birth defects and mother's home proximity to cornfields.

PubMed

Ochoa-Acuña, Hugo; Carbajo, Cristina

2009-07-15

Although previous studies have linked proximity to crops and birth defects, they lacked individual-level exposure data and none was based on using planted area instead of linear proximity to crops as the exposure metric. We studied birth defects in relation to the area of corn or soybeans within 500 m of the mother's residence. We selected all singleton births from rural areas conceived during the 2000-2004 spring-summer months (n=48,216). We determined whether the area with corn or soybeans around the home was associated with birth defects using multiple unconditional logistic regression. We found that limb birth defects (ICD-9-CM 754.5, 755) increased in relation to cornfields (Adjusted OR=1.22; 95 % CI=1.01, 1.47 per additional 10 ha planted with corn within 500 m). None of the birth defect types studied was associated with soybeans. In the Midwest, a significant and expanding proportion of the population is now living in close proximity to cornfields. Our results suggest that additional studies should be conducted to identify which factor(s) associated with cornfields are behind the observed increase in limb birth defects.

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

PubMed

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 isolated and total case groups for various sources of exposure (household only; workplace/school only; household and workplace/school; household or workplace/school). The prevalence of secondhand smoke exposure only across all sources ranged from 12.9-27.8% for cases and 14.5-15.8% for controls. The adjusted odds ratios for any vs no secondhand smoke exposure in the household or workplace/school and isolated birth defects were significantly elevated for neural tube defects (anencephaly: adjusted odds ratio, 1.66; 95% confidence interval, 1.22-2.25; and spina bifida: adjusted odds ratio, 1.49; 95% confidence interval, 1.20-1.86); orofacial clefts (cleft lip without cleft palate: adjusted odds ratio, 1.41; 95% confidence interval, 1.10-1.81; cleft lip with or without cleft palate: adjusted odds ratio, 1.24; 95% confidence interval, 1.05-1.46; cleft palate alone: adjusted odds ratio, 1.31; 95% confidence interval, 1.06-1.63); bilateral renal agenesis (adjusted odds ratio, 1.99; 95% confidence interval, 1.05-3.75); amniotic band syndrome-limb body wall complex (adjusted odds ratio, 1.66; 95% confidence interval, 1.10-2.51); and atrial septal defects, secundum (adjusted odds ratio, 1.37; 95% confidence interval, 1.09-1.72). There were no significant inverse associations observed. Additional studies replicating the findings are needed to better understand the moderate positive associations observed between periconceptional secondhand smoke and several birth defects in this analysis. Increased odds ratios resulting from chance (eg, multiple comparisons) or recall bias cannot be ruled out. Copyright © 2016 Elsevier Inc. All rights reserved.

Birth defects, season of conception, and sex of children born to pesticide applicators living in the Red River Valley of Minnesota, USA.

PubMed Central

Garry, Vincent F; Harkins, Mary E; Erickson, Leanna L; Long-Simpson, Leslie K; Holland, Seth E; Burroughs, Barbara L

2002-01-01

We previously demonstrated that the frequency of birth defects among children of residents of the Red River Valley (RRV), Minnesota, USA, was significantly higher than in other major agricultural regions of the state during the years 1989-1991, with children born to male pesticide applicators having the highest risk. The present, smaller cross-sectional study of 695 families and 1,532 children, conducted during 1997-1998, provides a more detailed examination of reproductive health outcomes in farm families ascertained from parent-reported birth defects. In the present study, in the first year of life, the birth defect rate was 31.3 births per 1,000, with 83% of the total reported birth defects confirmed by medical records. Inclusion of children identified with birth or developmental disorders within the first 3 years of life and later led to a rate of 47.0 per 1,000 (72 children from 1,532 live births). Conceptions in spring resulted in significantly more children with birth defects than found in any other season (7.6 vs. 3.7%). Twelve families had more than one child with a birth defect (n = 28 children). Forty-two percent of the children from families with recurrent birth defects were conceived in spring, a significantly higher rate than that for any other season. Three families in the kinships defined contributed a first-degree relative other than a sibling with the same or similar birth defect, consistent with a Mendelian inheritance pattern. The remaining nine families did not follow a Mendelian inheritance pattern. The sex ratio of children with birth defects born to applicator families shows a male predominance (1.75 to 1) across specific pesticide class use and exposure categories exclusive of fungicides. In the fungicide exposure category, normal female births significantly exceed male births (1.25 to 1). Similarly, the proportion of male to female children with birth defects is significantly lower (0.57 to 1; p = 0.02). Adverse neurologic and neurobehavioral developmental effects clustered among the children born to applicators of the fumigant phosphine (odds ratio [OR] = 2.48; confidence interval [CI], 1.2-5.1). Use of the herbicide glyphosate yielded an OR of 3.6 (CI, 1.3-9.6) in the neurobehavioral category. Finally, these studies point out that (a) herbicides applied in the spring may be a factor in the birth defects observed and (b) fungicides can be a significant factor in the determination of sex of the children of the families of the RRV. Thus, two distinct classes of pesticides seem to have adverse effects on different reproductive outcomes. Biologically based confirmatory studies are needed. PMID:12060842

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

EPA Science Inventory

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...

An Epidemiologic Investigation of Health Effects in Air Force Personnel Following Exposure to Herbicides. Extract Reproductive Outcomes Executive Summary introduction and Conclusions.

DTIC Science & Technology

1992-08-31

Birth Defects and Developmental Anomalies Twelve specific birth defects (anencephaly, spina bifida, hydrocephalus, cleft palate , cleft lip / palate ...Selected Birth Defects Twelve birth defects (anencephaly, spina bifida, hydrocephalus, cleft palate , cleft lip / palate , esophageal atresia, anorectal... cleft palate after coadministration of retinoic acid and TCDD. Toxicology and Applied Pharmacology 99(2):287-301 25. Roberts, E. A., Vella, L. M., Golas

[Case-control study on influence factors of birth defects].

PubMed

Xiu, Xin-hong; Yuan, Li; Wang, Xiao-ming; Chen, Yu-hua; Wan, Ai-hua; Fu, Ping

2011-07-01

To investigate the influence factors of birth defects. The congenital malformational fetuses born from 13 week of gestation to 7 days after birth were selected as the study group between April 1st, 2009 and March 31st, 2010. The health born fetuses were set as control in the same period. Case-control and the three-level of monitor network of birth defects were used in the study in the participating 75 hospitals (Qingdao Women and Children's Medical Center, Affiliated Hospital of Medical College Qingdao University, Qingdao Municipal Hospital, etc.). The study and control group's parents were interviewed by an uniformed questionnaire which was designed specially with influence factors of birth defects. (1) There are 466 congenital malformational fetuses in the total of 77 231 fetuses collected in 75 hospitals. The congenital malformational rate accounts for about 6.034‰. The top six defect diseases were congenital heart disease (112 cases), total harelip (cleft lip; cleft lip with palate: 85 cases), polydactyly (53 cases), neural tube defects (38 cases), congenital hydrocephalus (37 cases) and limb reduction defect (27 cases) in turn, which amounts to 353 cases (54.48%, 353/648). (2) Their mother education level in the birth-defect group (25.6%) were significantly lower than that in control group (30.0%, P<0.05). (3) The rate of passive smoking, drinking, raising pets of the parents in birth-defect group were significantly higher than that in control group (P<0.05). (4) The rate of exposure to harmful chemical and physical factors of mothers in birth defects group (13.9% and 20.5%, respectively) was higher than that in control group (1.1% and 11.7%, respectively), the difference between which were significant (P<0.01). The rate of disease (34.3%), fever (13.1%), taking drugs (33.8%) in pregnancy period in birth defect group were higher than that in control group (13.5%, 1.5% and 9.9%, respectively), the difference between which were significant (P<0.01). The rate of bad moral irritation to the mother in pregnancy in birth defect group (11.3%) was significantly higher than that in control group (1.4%, P<0.01). (5) There were 19 cases (2.9%, 19/648) with family heredity medical history in birth defect group, but there were none in the control group, the difference between which were significant (P<0.01). There were 89 cases (13.7%, 89/648) with unusual birth history of their mothers in birth defect group, but there were 31 cases (4.8%, 31/650) in control group, the difference between which were significant (P<0.01). (6) Conditional Logistic Regression model was used for univalent and multivariate analysis. The results showed that main influence factors were identified as having important effect on birth defects, including mothers' exposure to harmful chemical factors (OR=13.46), disease (OR=3.37), taking drugs (OR=2.20), exposure to bad moral irritation (OR=5.44), food-choosy (OR=1.90), anemia (OR=1.52) in gestational period, polyembryony (OR=4.40), father drinking (OR=1.55). While it was protective factors to supplement microelements such as the calcium iron and nutrient, etc.in pregnancy period (OR=0.45). First, the main birth defects were congenital heart disease, total harelip(cleft lip; cleft lip with palate), polydactyly, neural tube defects, congenital hydrocephalus and limb reduction defect in turn. Second, the main influence factors identified as having important effect on birth defects were mothers' exposure to harmful chemical factors, ill, taking drugs, exposure to bad moral irritation, food-choosy, anemia in gestational period, polyembryony, father drinking. But it is protective factors to supplement microelements such as the calcium iron and nutrient, etc. in pregnancy period. Finally, it is the important part to prevent the birth defects by reducing and controlling dangerous factors in pregnancy period.

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

PubMed Central

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

2016-01-01

OBJECTIVE 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. STUDY DESIGN 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. RESULTS 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. CONCLUSION 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. PMID:22284962

Safety of inadvertent anthrax vaccination during pregnancy: An analysis of birth defects in the U.S. military population, 2003-2010.

PubMed

Conlin, Ava Marie S; Sevick, Carter J; Gumbs, Gia R; Khodr, Zeina G; Bukowinski, Anna T

2017-08-03

Anthrax vaccine adsorbed (AVA) vaccination is compulsory for United States military servicemembers with operational indicators. As the number of female military servicemembers has increased, so has the chance of inadvertent AVA vaccination during pregnancy. Building upon past analyses assessing AVA vaccination during pregnancy and birth defects risk, this study sought to determine if inadvertent AVA vaccination during pregnancy is significantly associated with risk of birth defects after adjusting for other potential risk factors. The study population included 126,839 liveborn infants in the Department of Defense Birth and Infant Health Registry (2003-2010). Mothers were categorized by AVA vaccination exposure timing in relation to pregnancy. Infant medical records were assessed for birth defect diagnoses within the first year of life. Multivariable logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs). Infants of first trimester AVA vaccinated mothers versus receipt at any other time point (OR, 1.10; 95% CI, 0.93-1.29) were not at higher odds of birth defects in adjusted models. Infants of mothers vaccinated prepregnancy versus postpregnancy had a 1.11 (95% CI, 1.01-1.22) higher odds of having a birth defect. Vaccination postpregnancy versus never vaccinated revealed a 10% lower odds of birth defects (OR, 0.90; 95% CI, 0.83-0.99). No strong associations between inadvertent AVA vaccination during pregnancy and birth defects risk were observed. Marginal associations between prepregnancy vaccination or never vaccinated women and birth defects risk was observed when compared to postpregnancy vaccination. These findings may be due to self-selection and/or reverse causation bias when assessing comparisons with postpregnancy vaccination, and a "healthy worker" effect when assessing comparisons with women never vaccinated. Copyright © 2017 Elsevier Ltd. All rights reserved.

Linking a pharmaceutical claims database with a birth defects registry to investigate birth defect rates of suspected teratogens.

PubMed

Colvin, Lyn; Slack-Smith, Linda; Stanley, Fiona J; Bower, Carol

2010-11-01

Data linkage of population administrative data is being investigated as a tool for pharmacovigilance in pregnancy in Australia. Records of prescriptions of known or suspected teratogens dispensed to pregnant women have been linked to a birth defects registry to determine if defects associated with medicine exposure can be detected. The Pharmaceutical Benefits Scheme is a national claims database that has been linked with population-based data to extract linkages for women with a pregnancy event in Western Australia from 2002 to 2005 (n = 106 074). Records of births to the women who were dispensed medicines in categories D or X of the Australian ADEC pregnancy risk category were linked to the Birth Defects Registry of Western Australia. Population rates of registered birth defects per 1000 births were calculated for each medicine. There were 47 medicines dispensed at least once during pregnancy with 23 associated with a registered birth defect to a woman dispensed the medicine. When the birth defect rate for each medicine was compared with the rate for all other women not dispensed that medicine, most medicines showed an increased risk. Medicines with the higher risks were medroxyprogesterone acetate (OR: 1.8; 95%CI: 1.4-2.3), follitropin alfa (OR: 2.5; 95%CI: 1.2-5.0), carbamazepine (OR: 3.1; 95%CI: 1.7-5.6) and enalapril maleate (OR: 8.1; 95%CI: 1.6-41.7). Many known associations between medicines and birth defects were identified, suggesting that linked administrative data could be an important means of pharmacovigilance in pregnancy in Australia. Copyright © 2010 John Wiley & Sons, Ltd.

A case–control study of maternal bathing habits and risk for birth defects in offspring

PubMed Central

2013-01-01

Background Nearly all women shower or take baths during early pregnancy; however, bathing habits (i.e., shower and bath length and frequency) may be related to the risk of maternal hyperthermia and exposure to water disinfection byproducts, both of which are suspected to increase risk for multiple types of birth defects. Thus, we assessed the relationships between bathing habits during pregnancy and the risk for several nonsyndromic birth defects in offspring. Methods Data for cases with one of 13 types of birth defects and controls from the National Birth Defects Prevention Study delivered during 2000–2007 were evaluated. Logistic regression analyses were conducted separately for each type of birth defect. Results There were few associations between shower frequency or bath frequency or length and risk for birth defects in offspring. The risk for gastroschisis in offspring was increased among women who reported showers lasting ≥15 compared to <15 minutes (adjusted odds ratio: 1.43, 95% confidence interval: 1.18-1.72). In addition, we observed modest increases in the risk for spina bifida, cleft lip with or without cleft palate, and limb reduction defects in offspring of women who showered ≥15 compared to <15 minutes. The results of comparisons among more specific categories of shower length (i.e., <15 minutes versus 15–19, 20–29, and ≥ 30 minutes) were similar. Conclusions Our findings suggest that shower length may be associated with gastroschisis, but the modest associations with other birth defects were not supported by analyses of bath length or bath or shower frequency. Given that showering for ≥15 minutes during pregnancy is very common, further evaluation of the relationship between maternal showering habits and birth defects in offspring is worthwhile. PMID:24131571

Fluconazole use and birth defects in the National Birth Defects Prevention Study.

PubMed

Howley, Meredith M; Carter, Tonia C; Browne, Marilyn L; Romitti, Paul A; Cunniff, Christopher M; Druschel, Charlotte M

2016-05-01

Low-dose fluconazole is used commonly to treat vulvovaginal candidiasis, a condition occurring frequently during pregnancy. Conflicting information exists on the association between low-dose fluconazole use among pregnant women and the risk of major birth defects. We used data from the National Birth Defects Prevention Study to examine this association. The National Birth Defects Prevention Study is a multisite, population-based, case-control study that includes pregnancies with estimated delivery dates from 1997 to 2011. Information on fluconazole use in early pregnancy was collected by self-report from 31,645 mothers of birth defect cases and 11,612 mothers of unaffected controls. Adjusted odds ratios and 95% confidence intervals were estimated for birth defects with 5 or more exposed cases; crude odds ratios and exact 95% confidence intervals were estimated for birth defects with 3-4 exposed cases. Of the 43,257 mothers analyzed, 44 case mothers and 6 control mothers reported using fluconazole. Six exposed infants had cleft lip with cleft palate, 4 had an atrial septal defect, and each of the following defects had 3 exposed cases: hypospadias, tetralogy of Fallot, d-transposition of the great arteries, and pulmonary valve stenosis. Fluconazole use was associated with cleft lip with cleft palate (odds ratio = 5.53; confidence interval = 1.68-18.24) and d-transposition of the great arteries (odds ratio = 7.56; confidence interval = 1.22-35.45). The associations between fluconazole and both cleft lip with cleft palate and d-transposition of the great arteries are consistent with earlier published case reports but not recent epidemiologic studies. Despite the larger sample size of the National Birth Defects Prevention Study, fluconazole use was rare. Further investigation is needed in large studies, with particular emphasis on oral clefts and conotruncal heart defects. Copyright © 2016 Elsevier Inc. All rights reserved.

Teratology: from science to birth defects prevention.

PubMed

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.

An exploratory analysis of the relationship between ambient ...

EPA Pesticide Factsheets

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. Methods: Data on births were obtained from the Texas Birth Defects Registry and the National Birth Defects Prevention Study (NBDPS) in Texas. Air pollution concentrations were determined using a Bayesian hierarchical model that combined modeled air pollution concentrations with air monitoring data to create bias-corrected concentrations and matched to residential address at birth. Average air pollution concentrations during the first trimester were calculated. Results: The analysis generated hypotheses for future, confirmatory studies; although many of the observed associations between the air pollutants and birth defects were null. The hypotheses are provided by an observed association between O3 and craniosynostosis [adjusted OR 1.28 (95% CI 1.04, 1.58) per 13.3 ppb increase) and observed inverse associations between PM2.5 concentrations and septal heart defects and obstructive heart defects [adjusted ORs 0.79 (95% CI 0.75, 0.82) and 0.88 (95% CI 0.79, 0.97) per 5.0 µg/m3 increase, respectively] in the Texas Birth Defects Registry study. Septal heart defects and ventricular outflow tract obstructions were also examined using the NBDPS but the associations with PM2.5 were null [adj

Agricultural Compounds in Water and Birth Defects.

PubMed

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.

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

PubMed

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. Infants with microcephaly (18/442) represent 4% of completed pregnancies. Birth defects were reported in 9 of 85 (11%; 95% CI, 6%-19%) completed pregnancies with maternal symptoms or exposure exclusively in the first trimester (or first trimester and periconceptional period), with no reports of birth defects among fetuses or infants with prenatal exposure to Zika virus infection only in the second or third trimesters. Among pregnant women in the United States with completed pregnancies and laboratory evidence of possible recent Zika infection, 6% of fetuses or infants had evidence of Zika-associated birth defects, primarily brain abnormalities and microcephaly, whereas among women with first-trimester Zika infection, 11% of fetuses or infants had evidence of Zika-associated birth defects. These findings support the importance of screening pregnant women for Zika virus exposure.

Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study.

PubMed

Desrosiers, Tania A; Herring, Amy H; Shapira, Stuart K; Hooiveld, Mariëtte; Luben, Tom J; Herdt-Losavio, Michele L; Lin, Shao; Olshan, Andrew F

2012-08-01

Several epidemiological studies have suggested that certain paternal occupations may be associated with an increased prevalence of birth defects in offspring. Using data from the National Birth Defects Prevention Study, the authors investigated the association between paternal occupation and birth defects in a case-control study of cases comprising over 60 different types of birth defects (n=9998) and non-malformed controls (n=4066) with dates of delivery between 1997 and 2004. Using paternal occupational histories reported by mothers via telephone interview, jobs were systematically classified into 63 groups based on shared exposure profiles within occupation and industry. Data were analysed using bayesian logistic regression with a hierarchical prior for dependent shrinkage to stabilise estimation with sparse data. Several occupations were associated with an increased prevalence of various birth defect categories, including mathematical, physical and computer scientists; artists; photographers and photo processors; food service workers; landscapers and groundskeepers; hairdressers and cosmetologists; office and administrative support workers; sawmill workers; petroleum and gas workers; chemical workers; printers; material moving equipment operators; and motor vehicle operators. Findings from this study might be used to identify specific occupations worthy of further investigation and to generate hypotheses about chemical or physical exposures common to such occupations.

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

PubMed

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.

International adoption of children with birth defects: current knowledge and areas for further research.

PubMed

Cochran, Meagan E; Nelson, Katherine R; Robin, Nathaniel H

2014-12-01

To summarize the existing literature on the international adoption of children with birth defects and identify areas for further research. International adoption brings thousands of children to the United States each year, and children with birth defects are overrepresented in this population. Studies have demonstrated disparities in the health of children adopted from different countries as well as the complexity of medical care needed after adoption. Although the health of children involved in international adoption has been well studied, there is a lack of information about the experiences of the adoptive parents of children with birth defects. We discuss a pilot study conducted on adoptive parents of children with a specific birth defect, orofacial clefting, and discuss areas for future research.

Attaining human dignity for people with birth defects: a historical perspective.

PubMed

Christianson, Arnold L

2013-10-11

People with birth defects have been stigmatised, marginalised and discriminated against for millennia, diminishing their human dignity and abrogating their human rights. Beginning with the United Nations Universal Declaration of Human Rights, promulgated in 1947, the circumstances in which human dignity in healthcare for people with birth defects could be achieved arose, and this was accomplished over the next 65 years through the insight, hard work and dedication of a select group of people and organisations. In 2010 the World Health Organization prioritised services for the care and prevention of birth defects, particularly in middle- and low-income countries. Translating what has been achieved into human rights in healthcare for people with birth defects is the next objective. 

Association of birth defects with the mode of assisted reproductive technology in a Chinese data-linkage cohort.

PubMed

Yu, Hui-Ting; Yang, Qing; Sun, Xiao-Xi; Chen, Guo-Wu; Qian, Nai-Si; Cai, Ren-Zhi; Guo, Han-Bing; Wang, Chun-Fang

2018-05-01

To evaluate the impact of assisted reproductive technology (ART) on the offspring of Chinese population. Retrospective, data-linkage cohort. Not applicable. Live births resulting from ART or natural conception. None. Birth defects coded according to ICD-10. Births after ART were more likely to be female and multiple births, especially after intracytoplasmic sperm injection (ICSI). ART was associated with a significantly increased risk of birth defects, especially, among singleton births, a significantly increased risk in fresh-embryo cycles after in vitro fertilization (IVF) and frozen-embryo cycles after ICSI. Associations between ART and multiple defects, between ART and gastrointestinal malformation, genital organs malformation, and musculoskeletal malformation among singleton births, and between ART and cardiac septa malformation among multiple births were observed. This study suggests that ART increases the risk of birth defects. Subgroup analyses indicate higher risk for both fresh and frozen embryos, although nonsignificantly for frozen embryos after IVF and for fresh embryos were presented with low power. Larger sample size research is needed to clarify effects from fresh- or frozen-embryo cycles after IVF and ICSI. Copyright © 2018 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

[Reliability of birth defect data on birth certificates of Rio de Janeiro, Brazil, 2004].

PubMed

Guerra, Fernando Antônio Ramos; Llerena, Juan Clinton; Gama, Silvana Granado Nogueira da; Cunha, Cynthia Braga da; Theme Filha, Mariza Miranda

2008-02-01

This study assessed the reliability of birth certificate data related to birth defects in Brazil's Live Birth Information System (SINASC). We selected 24 maternity hospitals in the Unified National Health System (SUS) and compared the reports of birth defects from birth certificates with medical records of mothers and live born infants in the city of Rio de Janeiro for the year 2004. After transposing the data to a specific form, the birth defects were coded by types and organ systems and compared to the SINASC data. The most commonly affected organs involved the central nervous and musculoskeletal systems. Agreement was more than 50% for the digestive, genitourinary, and musculoskeletal systems and chromosomal anomalies. Prevalence-adjusted kappa varied according to 2 or 3-digit ICD-10 analysis, with better results for the musculoskeletal, digestive, and genitourinary systems and congenital anomalies, and worse for the central nervous and cardio-circulatory systems, eye, neck, and ear malformations, and cleft lip and palate. The results were unsatisfactory, suggesting the need for more investments to train the persons responsible for completing birth certificates in maternity hospitals and develop a model for coding birth defects on these documents.

Birth defects in Iraq and the plausibility of environmental exposure: A review

PubMed Central

2012-01-01

An increased prevalence of birth defects was allegedly reported in Iraq in the post 1991 Gulf War period, which was largely attributed to exposure to depleted uranium used in the war. This has encouraged further research on this particular topic. This paper reviews the published literature and provided evidence concerning birth defects in Iraq to elucidate possible environmental exposure. In addition to published research, this review used some direct observation of birth defects data from Al-Ramadi Maternity and Paediatric Hospital in Al-Anbar Governorate in Iraq from1st July 2000 through 30th June 2002. In addition to depleted uranium other war-related environmental factors have been studied and linked directly or indirectly with the increasing prevalence of birth defects. However, the reviewed studies and the available research evidence do not provide a clear increase in birth defects and a clear indication of a possible environmental exposure including depleted uranium although the country has been facing several environmental challenges since 1980. PMID:22839108

Etiology and clinical presentation of birth defects: population based study

PubMed Central

Carey, John C; Byrne, Janice L B; Krikov, Sergey; Botto, Lorenzo D

2017-01-01

Objective To assess causation and clinical presentation of major birth defects. Design Population based case cohort. Setting Cases of birth defects in children born 2005-09 to resident women, ascertained through Utah’s population based surveillance system. All records underwent clinical re-review. Participants 5504 cases among 270 878 births (prevalence 2.03%), excluding mild isolated conditions (such as muscular ventricular septal defects, distal hypospadias). Main outcome measures The primary outcomes were the proportion of birth defects with a known etiology (chromosomal, genetic, human teratogen, twinning) or unknown etiology, by morphology (isolated, multiple, minors only), and by pathogenesis (sequence, developmental field defect, or known pattern of birth defects). Results Definite cause was assigned in 20.2% (n=1114) of cases: chromosomal or genetic conditions accounted for 94.4% (n=1052), teratogens for 4.1% (n=46, mostly poorly controlled pregestational diabetes), and twinning for 1.4% (n=16, conjoined or acardiac). The 79.8% (n=4390) remaining were classified as unknown etiology; of these 88.2% (n=3874) were isolated birth defects. Family history (similarly affected first degree relative) was documented in 4.8% (n=266). In this cohort, 92.1% (5067/5504) were live born infants (isolated and non-isolated birth defects): 75.3% (4147/5504) were classified as having an isolated birth defect (unknown or known etiology). Conclusions These findings underscore the gaps in our knowledge regarding the causes of birth defects. For the causes that are known, such as smoking or diabetes, assigning causation in individual cases remains challenging. Nevertheless, the ongoing impact of these exposures on fetal development highlights the urgency and benefits of population based preventive interventions. For the causes that are still unknown, better strategies are needed. These can include greater integration of the key elements of etiology, morphology, and pathogenesis into epidemiologic studies; greater collaboration between researchers (such as developmental biologists), clinicians (such as medical geneticists), and epidemiologists; and better ways to objectively measure fetal exposures (beyond maternal self reports) and closer (prenatally) to the critical period of organogenesis. PMID:28559234

Factors associated with birth defects in the region of Corpus Christi, Texas

EPA Science Inventory

In recent years, the Birth Defects Epidemiology & Surveillance Branch of the Texas Department of State Health Services (DSHS) has documented a high prevalence of certain birth defects in the Corpus Christi, TX region. We conducted a case-control study to evaluate associations...

EPIDEMIOLOGY STUDY OF BIRTH DEFECTS AND DISINFECTION BYPRODUCTS (DBPS)

EPA Science Inventory

Birth defects are the leading cause of infant mortality in the US, accounting for more than 20% of all infant deaths. In addition, birth defects are the fifth leading cause of years of potential life lost and contribute substantially to childhood morbidity and long-term disabilit...

EPIDEMIOLOGY STUDY OF BIRTH DEFECTS AND DISINFECTION BYPRODUCTS

EPA Science Inventory

Birth defects are the leading cause of infant mortality in the US, accounting for more than 20% of all infant deaths. In addition, birth defects are the fifth leading cause of years of potential lief life lost and contribute substantially to childhood morbidity and long-term disa...

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

PubMed

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.

38 CFR 21.8282 - Termination of a vocational training program.

Code of Federal Regulations, 2010 CFR

2010-07-01

... for Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Vocational Training..., administrative error, or finding that the child no longer has a covered birth defect. An eligible child for whom... covered birth defect. The effective date of termination will be the earliest of the following applicable...

Seasonality in birth defects, agricultural production and urban location.

PubMed

McKinnish, Terra; Rees, Daniel I; Langlois, Peter H

2014-12-01

This paper tests whether the strength of the "spring spike" in birth defects is related to agricultural production and urban location using Texas Birth Defects Registry data for the period 1996-2007. We find evidence of a spike in birth defects among children conceived in the spring and summer, but it is more pronounced in urban non-agricultural counties than in other types of counties. Furthermore, the spike lasts longer in urban non-agricultural counties as compared to other types of counties. Copyright © 2014 Elsevier B.V. All rights reserved.

Paternal occupation and birth defects: findings from the National Birth Defects Prevention Study

PubMed Central

Desrosiers, Tania A.; Herring, Amy H.; Shapira, Stuart K.; Hooiveld, Mariette; Luben, Tom J.; Herdt-Losavio, Michele L.; Lin, Shao; Olshan, Andrew F.

2013-01-01

Objectives Several epidemiologic studies have suggested that certain paternal occupations may be associated with an increased prevalence of birth defects in offspring. Using data from the National Birth Defects Prevention Study, we investigated the association between paternal occupation and birth defects in a case-control study of cases comprising over 60 different types of birth defects (n = 9998) and non-malformed controls (n = 4066) with dates of delivery between 1997 and 2004. Methods Using paternal occupational histories reported by mothers via telephone interview, jobs were systematically classified into 63 groups based on shared exposure profiles within occupation and industry. Data were analyzed using Bayesian logistic regression with a hierarchical prior for dependent shrinkage to stabilize estimation with sparse data. Results Several occupations were associated with an increased prevalence of various birth defect categories, including: mathematical, physical and computer scientists; artists; photographers and photo processors; food service workers; landscapers and groundskeepers; hairdressers and cosmetologists; office and administrative support workers; sawmill workers; petroleum and gas workers; chemical workers; printers; material moving equipment operators; and motor vehicle operators. Conclusions Findings from this study might be used to identify specific occupations worthy of further investigation, and to generate hypotheses about chemical or physical exposures common to such occupations. PMID:22782864

Prenatal Nitrate Intake from Drinking Water and Selected Birth Defects in Offspring of Participants in the National Birth Defects Prevention Study

PubMed Central

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.

2013-01-01

Background: 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. Objectives: 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. Methods: 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. Results: 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. < 0.91 mg) than control mothers. During 1 month preconception through the first trimester, mothers of limb deficiency, cleft palate, and cleft lip cases were, respectively, 1.8 (95% CI: 1.1, 3.1), 1.9 (95% CI: 1.2, 3.1), and 1.8 (95% CI: 1.1, 3.1) times more likely than control mothers to ingest ≥ 5.42 mg of nitrate daily (vs. < 1.0 mg). Higher water nitrate intake did not increase associations between prenatal nitrosatable drug use and birth defects. Conclusions: Higher water nitrate intake was associated with several birth defects in offspring, but did not strengthen associations between nitrosatable drugs and birth defects. Citation: Brender JD, Weyer PJ, Romitti PA, Mohanty BP, Shinde MU, Vuong AM, Sharkey JR, Dwivedi D, Horel SA, Kantamneni J, Huber JC Jr., Zheng Q, Werler MM, Kelley KE, Griesenbeck JS, Zhan FB, Langlois PH, Suarez L, Canfield MA, and the National Birth Defects Prevention Study. 2013. Prenatal nitrate intake from drinking water and selected birth defects in offspring of participants in the National Birth Defects Prevention Study. Environ Health Perspect 121:1083–1089; http://dx.doi.org/10.1289/ehp.1206249 PMID:23771435

Normalized Shape and Location of Perturbed Craniofacial Structures in the Xenopus Tadpole Reveal an Innate Ability to Achieve Correct Morphology

PubMed Central

Vandenberg, Laura N.; Adams, Dany S.; Levin, Michael

2012-01-01

Background Embryonic development can often adjust its morphogenetic processes to counteract external perturbation. The existence of self-monitoring responses during pattern formation is of considerable importance to the biomedicine of birth defects, but has not been quantitatively addressed. To understand the computational capabilities of biological tissues in a molecularly-tractable model system, we induced craniofacial defects in Xenopus embryos, then tracked tadpoles with craniofacial deformities and used geometric morphometric techniques to characterize changes in the shape and position of the craniofacial structures. Results Canonical variate analysis revealed that the shapes and relative positions of perturbed jaws and branchial arches were corrected during the first few months of tadpole development. Analysis of the relative movements of the anterior-most structures indicates that misplaced structures move along the anterior-posterior and left-right axes in ways that are significantly different from their normal movements. Conclusions Our data suggest a model in which craniofacial structures utilize a measuring mechanism to assess and adjust their location relative to other local organs. Understanding the correction mechanisms at work in this system could lead to the better understanding of the adaptive decision-making capabilities of living tissues and suggest new approaches to correct birth defects in humans. PMID:22411736

[Association between illness and mental status in pregnant women and birth defects].

PubMed

Zhao, D D; Dai, Y X; Guo, L Q; Liu, R; Wang, H L; Mi, B B; Dang, S N; Yan, H

2017-11-10

Objective: To understand the prevalence of birth defects, related diseases and mental status of women during pregnancy in Shaanxi province and to analyse the major risk factors on birth defects and congenital heart disease. Possible association between maternal diseases or mental status and the risk of birth defects, was also explored. Methods: A cross-sectional design was used in this study and stratified multistage random sampling method was used. The whole survey was from Jury 2013 to November 2013. Logistic regression method was used to analyze the association between maternal diseases, mental status during pregnancy and birth defects. Results: The overall prevalence of birth defects was 195.04 per 10 000 in Shaanxi. Among the 29 121 mothers participating in this study, 51.1% developed illness and 6.8% "changed their mental status during pregnancy. After adjusting all the confounding factors, results showed that, histories of cold" , fever, and intrahepatic cholestasis were ( OR =1.33, 95 %CI : 1.10-1.61, OR =1.54, 95 %CI : 1.09-2.16, and OR =32.77, 95 %CI :4.08-263.04) respectively, during pregnancy that related to birth defects. Self-reported unstable mental status ( OR =1.60, 95 %CI : 1.19-2.15) and family friction ( OR =2.07, 95 %CI : 1.12-3.79) were both related to the birth rates. Histories of cold and fever ( OR =1.59, 95 %CI : 1.28-1.98; OR =1.43, 95 %CI : 1.48-4.00), during early pregnancy, unstable mental status during mid-pregnant period ( OR =1.52, 95 %CI : 1.05-2.19), unstable mental status during late-pregnant period ( OR =1.63, 95 %CI : 1.05-2.19) and family friction during late-pregnant period ( OR =2.89, 95 %CI : 1.16-7.20) were found to be related to birth defects. Compared with those without history of cold, those with the history of cold during first ( OR =1.24, 95 %CI : 1.02-1.52) and second stages ( OR =2.06, 95 %CI : 1.30-3.26) of pregnancy were more likely to bear fetus with birth defects. Compared with those without these histories, those with histories of fever ( OR =1.49, 95 %CI : 1.04-2.13), emotional problem ( OR =1.71, 95 %CI : 1.19-2.45) and related diseases ( OR =2.67, 95 %CI : 1.32-5.39) during the first period of pregnancy were more likely to bear fetus with birth defects. Conclusion: The incidence of birth defects in Shaanxi was high. Histories of cold, fever, unstable mental status and family friction during pregnancy, seemed to have increased the risks of bearing child with birth defects.

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

PubMed

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 Prevalence of Neural Tube Defects and Orofacial Clefts in India: A Systematic Review and Meta-Analysis

PubMed Central

Allagh, Komal Preet; Shamanna, B. R.; Murthy, Gudlavalleti V. S.; Ness, Andy R.; Doyle, Pat; Neogi, Sutapa B.; Pant, Hira B.

2015-01-01

Background 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. Methods 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. Results 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. Conclusion 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. PMID:25768737

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

PubMed

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.

Risk comparison for prenatal use of analgesics and selected birth defects, National Birth Defects Prevention Study 1997-2011.

PubMed

Interrante, Julia D; Ailes, Elizabeth C; Lind, Jennifer N; Anderka, Marlene; Feldkamp, Marcia L; Werler, Martha M; Taylor, Lockwood G; Trinidad, James; Gilboa, Suzanne M; Broussard, Cheryl S

2017-10-01

To compare the use of nonsteroidal anti-inflammatory drugs (NSAIDs) and/or opioids to the use of acetaminophen without NSAIDs or opioids with respect to associations with birth defects. We used data from the National Birth Defects Prevention Study (1997-2011). Exposure was self-reported maternal analgesic use from the month before through the third month of pregnancy (periconceptional). Adjusted odds ratios (aORs) were calculated to examine associations with 16 birth defects. Compared to acetaminophen, mothers reporting NSAIDs were significantly more likely to have offspring with gastroschisis, hypospadias, cleft palate, cleft lip with cleft palate, cleft lip without cleft palate, anencephaly, spina bifida, hypoplastic left heart syndrome, pulmonary valve stenosis, and tetralogy of Fallot (aOR range, 1.2-1.6). Opioids were associated with tetralogy of Fallot, perimembranous ventricular septal defect, and ventricular septal defect with atrial septal defect (aOR range, 1.8-2.3), whereas use of both opioids and NSAIDs was associated with gastroschisis, cleft palate, spina bifida, hypoplastic left heart syndrome, and pulmonary valve stenosis (aOR range, 2.0-2.9). Compared to periconceptional use of acetaminophen, selected birth defects occurred more frequently among infants of women using NSAIDs and/or opioids. However, we could not definitely determine whether these risks relate to the drugs or to indications for treatment. Published by Elsevier Inc.

77 FR 60745 - Proposed Information Collection (Application for Benefits for Certain Children With Disabilities...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-10-04

... monetary allowance for natural children with certain birth defects of female veterans who served in the... Born with Certain Birth Defects, authorizes payment of monetary benefits to, or on behalf of, [[Page... period February 28, 1961 to May 7, 1975; and have certain birth defects resulting in permanent physical...

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

PubMed

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.

Birth defects among a cohort of infants born to HIV-infected women on antiretroviral medication

PubMed Central

Watts, D. Heather; Huang, Sharon; Culnane, Mary; Kaiser, Kathleen A.; Scheuerle, Angela; Mofenson, Lynne; Stanley, Kenneth; Newell, Marie-Louise; Mandelbrot, Laurent; Delfraissy, Jean-Francois; Cunningham, Coleen K.

2011-01-01

Objective To determine rate of and risk factors for birth defects in infants born to HIV-infected women receiving nucleoside and protease inhibitor antiretroviral (ARV) therapy. Methods Birth defects were evaluated among infants on the Pediatric AIDS Clinical Trials Group 316 trial that studied addition of peripartum nevirapine to established ARV regimen for prevention of mother-to-child transmission. Maternal therapy was categorized by trimester of earliest exposure. Birth defects were coded using conventions of the Antiretroviral Pregnancy Registry. Results Birth defects were detected in 60/1414 (4.2%; 95% CI 3.3–5.4%) infants including 30/636 (4.7%; 95% CI 3.2–6.7%) with first trimester ARV exposure and 30/778 (3.9%; 95% CI 2.6–5.5%) with exposure only after the first trimester (P=0.51). Rates of classes of defects were similar between first trimester compared to later exposure groups except heart defects which occurred in 16 (2.5%; 95% CI 1.4–4.1%) with first trimester ARV exposure and in six (0.8%; 95% CI 0.3–1.7%) infants with later exposure (P=0.02). Exposure to ARV was not associated with specific types of heart defects. Two cases of cardiomyopathy were noted. Conclusion ARV use in early pregnancy was not associated with an increased risk of birth defects overall. The possible association of ARV exposure with heart defects requires further surveillance. PMID:21142844

Integration of DNA sample collection into a multi-site birth defects case-control study.

PubMed

Rasmussen, Sonja A; Lammer, Edward J; Shaw, Gary M; Finnell, Richard H; McGehee, Robert E; Gallagher, Margaret; Romitti, Paul A; Murray, Jeffrey C

2002-10-01

Advances in quantitative analysis and molecular genotyping have provided unprecedented opportunities to add biological sampling and genetic information to epidemiologic studies. The purpose of this article is to describe the incorporation of DNA sample collection into the National Birth Defects Prevention Study (NBDPS), an ongoing case-control study in an eight-state consortium with a primary goal to identify risk factors for birth defects. Babies with birth defects are identified through birth defects surveillance systems in the eight participating centers. Cases are infants with one or more of over 30 major birth defects. Controls are infants without defects from the same geographic area. Epidemiologic information is collected through an hour-long interview with mothers of both cases and controls. We added the collection of buccal cytobrush DNA samples for case-infants, control-infants, and their parents to this study. We describe here the methods by which the samples have been collected and processed, establishment of a centralized resource for DNA banking, and quality control, database management, access, informed consent, and confidentiality issues. Biological sampling and genetic analyses are important components to epidemiologic studies of birth defects aimed at identifying risk factors. The DNA specimens collected in this study can be used for detection of mutations, study of polymorphic variants that confer differential susceptibility to teratogens, and examination of interactions among genetic risk factors. Information on the methods used and issues faced by the NBDPS may be of value to others considering the addition of DNA sampling to epidemiologic studies.

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

PubMed

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.

Antithyroid Drug Use in Pregnancy and Birth Defects: Why Some Studies Find Clear Associations, and Some Studies Report None.

PubMed

Laurberg, Peter; Andersen, Stine Linding

2015-11-01

Rare cases of birth defects after the use of methimazole (MMI) or carbimazole to treat hyperthyroidism in early pregnancy have been reported since 1972, whereas propylthiouracil (PTU) has not been considered teratogenic. Recently, two studies reported birth defects after the use of MMI in early pregnancy to affect 2-4% of exposed children, and one study also found birth defects after the use of PTU. On the other hand, some published studies did not find associations between the use of thionamides and birth defects. The methods used in the two positive and the four negative reports are reviewed. The two positive studies included a sufficient number of children exposed to MMI (n = 1231 and 1097) to evaluate the studied outcomes, whereas the four negative studies included a much lower number of exposed children (n = 73, 108, 30, and 124). Considering PTU, the birth defects observed in one study were in general milder and tended to be diagnosed and registered only when they resulted in complications and led to surgery after one year of age. None of the negative studies has investigated outcomes after one year of age. Studies finding no associations between early pregnancy exposure to antithyroid drugs and birth defects were either not sufficiently powered or did not study outcomes at optimal ages.

A Multivariate Dynamic Spatial Factor Model for Speciated Pollutants and Adverse Birth Outcomes

DOE PAGES

Kaufeld, Kimberly Ann; Fuentes, Montse; Reich, Brian J.; ...

2017-09-11

Evidence suggests that exposure to elevated concentrations of air pollution during pregnancy is associated with increased risks of birth defects and other adverse birth outcomes. While current regulations put limits on total PM2.5 concentrations, there are many speciated pollutants within this size class that likely have distinct effects on perinatal health. However, due to correlations between these speciated pollutants, it can be difficult to decipher their effects in a model for birth outcomes. To combat this difficulty, we develop a multivariate spatio-temporal Bayesian model for speciated particulate matter using dynamic spatial factors. These spatial factors can then be interpolated tomore » the pregnant women’s homes to be used to model birth defects. The birth defect model allows the impact of pollutants to vary across different weeks of the pregnancy in order to identify susceptible periods. Here, the proposed methodology is illustrated using pollutant monitoring data from the Environmental Protection Agency and birth records from the National Birth Defect Prevention Study.« less

A Multivariate Dynamic Spatial Factor Model for Speciated Pollutants and Adverse Birth Outcomes

DOE Office of Scientific and Technical Information (OSTI.GOV)

Kaufeld, Kimberly Ann; Fuentes, Montse; Reich, Brian J.

Evidence suggests that exposure to elevated concentrations of air pollution during pregnancy is associated with increased risks of birth defects and other adverse birth outcomes. While current regulations put limits on total PM2.5 concentrations, there are many speciated pollutants within this size class that likely have distinct effects on perinatal health. However, due to correlations between these speciated pollutants, it can be difficult to decipher their effects in a model for birth outcomes. To combat this difficulty, we develop a multivariate spatio-temporal Bayesian model for speciated particulate matter using dynamic spatial factors. These spatial factors can then be interpolated tomore » the pregnant women’s homes to be used to model birth defects. The birth defect model allows the impact of pollutants to vary across different weeks of the pregnancy in order to identify susceptible periods. Here, the proposed methodology is illustrated using pollutant monitoring data from the Environmental Protection Agency and birth records from the National Birth Defect Prevention Study.« less

Spina Bifida and Folic Acid Awareness

ERIC Educational Resources Information Center

Exceptional Parent, 2007

2007-01-01

Spina bifida is the most common, permanently disabling birth defect in the United States. It is a birth defect that involves incomplete formation of the spine during the first month of pregnancy--often before a woman even knows she is pregnant. Everyday, an average of eight babies are born with spina bifida or a similar birth defect of the brain…

Occurrence of Conotruncal Heart Birth Defects in Texas: A Comparison of Urban/Rural Classifications

ERIC Educational Resources Information Center

Langlois, Peter H.; Jandle, Leigh; Scheuerle, Angela; Horel, Scott A.; Carozza, Susan E.

2010-01-01

Purpose: (1) Determine if there is an association between 3 conotruncal heart birth defects and urban/rural residence of mother. (2) Compare results using different methods of measuring urban/rural status. Methods: Data were taken from the Texas Birth Defects Registry, 1999-2003. Poisson regression was used to compare crude and adjusted birth…

Association Between Infant Mortality Attributable to Birth Defects and Payment Source for Delivery - United States, 2011-2013.

PubMed

Almli, Lynn M; Alter, Caroline C; Russell, Rebecca B; Tinker, Sarah C; Howards, Penelope P; Cragan, Janet; Petersen, Emily; Carrino, Gerard E; Reefhuis, Jennita

2017-01-27

Birth defects are a leading cause of infant mortality in the United States (1), accounting for approximately 20% of infant deaths. The rate of infant mortality attributable to birth defects (IMBD) in the United States in 2014 was 11.9 per 10,000 live births (1). Rates of IMBD differ by race/ethnicity (2), age group at death (2), and gestational age at birth (3). Insurance type is associated with survival among infants with congenital heart defects (CHD) (4). In 2003, a checkbox indicating principal payment source for delivery was added to the U.S. standard birth certificate (5). To assess IMBD by payment source for delivery, CDC analyzed linked U.S. birth/infant death data for 2011-2013 from states that adopted the 2003 revision of the birth certificate. The results indicated that IMBD rates for preterm (<37 weeks of gestation) and term (≥37 weeks) infants whose deliveries were covered by Medicaid were higher during the neonatal (<28 days) and postneonatal (≥28 days to <1 year) periods compared with infants whose deliveries were covered by private insurance. Similar differences in postneonatal mortality were observed for the three most common categories of birth defects listed as a cause of death: central nervous system (CNS) defects, CHD, and chromosomal abnormalities. Strategies to ensure quality of care and access to care might reduce the difference between deliveries covered by Medicaid and those covered by private insurance.

Maternal butalbital use and selected defects in the national birth defects prevention study.

PubMed

Browne, Marilyn L; Van Zutphen, Alissa R; Botto, Lorenzo D; Louik, Carol; Richardson, Sandra; Druschel, Charlotte M

2014-01-01

Butalbital is a barbiturate contained in combination products with caffeine and an analgesic prescribed for the treatment of migraine and tension-type headaches. Controversy exists as to whether butalbital should continue to be prescribed in the United States because of the potential for abuse, overuse headache, and withdrawal syndromes. Butalbital crosses the placenta but there is limited information about potential teratogenicity. To evaluate associations between butalbital and a wide range of specific birth defects. The National Birth Defects Prevention Study is an ongoing, case-control study of nonsyndromic, major birth defects conducted in 10 states. The detailed case classification and large number of cases in the National Birth Defects Prevention Study allowed us to examine the association between maternal self-reported butalbital use and specific birth defects. We conducted an analysis of 8373 unaffected controls and 21,090 case infants with estimated dates of delivery between 1997 and 2007; included were birth defects with 250 or more cases. An exploratory analysis examined groups with 100 to 249 cases. Seventy-three case mothers and 15 control mothers reported periconceptional butalbital use. Of 30 specific defect groups evaluated, adjusted odds ratios for maternal periconceptional butalbital use were statistically significant for 3 congenital heart defects: tetralogy of Fallot (adjusted odds ratio = 3.04; 95% confidence interval = 1.07-8.62), pulmonary valve stenosis (adjusted odds ratio = 5.73; 95% confidence interval = 2.25-14.62), and secundum-type atrial septal defect (adjusted odds ratio = 3.06; 95% confidence interval = 1.07-8.79). In the exploratory analysis, an elevated odds ratio was detected for 1 congenital heart defect, single ventricle. We observed relationships between maternal periconceptional butalbital use and certain congenital heart defects. These associations have not been reported before, and some may be spurious. Butalbital use was rare and despite the large size of the National Birth Defects Prevention Study, the number of exposed case and control infants was small. However, if confirmed in additional studies, our findings will be useful in weighing the risks and benefits of butalbital for the treatment of migraine and tension-type headaches. © Published 2013. This article is a U.S. Government work and is in the public domain in the USA.

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

PubMed Central

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

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.

PubMed

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.

Elevated body mass index and decreased diet quality among women and risk of birth defects in their offspring.

PubMed

Carmichael, Suzan L; Yang, Wei; Gilboa, Suzanne; Ailes, Elizabeth; Correa, Adolfo; Botto, Lorenzo D; Feldkamp, Marcia L; Shaw, Gary M

2016-03-01

We examined whether risks of 32 birth defects were higher than expected in the presence of overweight or obese body mass index (BMI) and low diet quality, based on estimating individual and joint effects of these factors and calculating relative excess risk due to interaction. Analyses included mothers of 20,250 cases with birth defects and 8617 population-based controls without birth defects born from 1997 to 2009 and interviewed for the National Birth Defects Prevention Study. We used logistic regression to generate adjusted odds ratios (AORs) reflecting the combined effects of BMI and diet quality. We focused analyses on 16 birth defects (n = 11,868 cases, 8617 controls) for which initial results suggested an association with BMI or diet quality. Relative to the reference group (normal weight women with not low diet quality, i.e., >lowest quartile), AORs for low diet quality among normal weight women tended to be >1, and AORs for overweight and obese women tended to be stronger among women who had low diet quality than not low diet quality. For 9/16 birth defects, AORs for obese women who had low diet quality-the group we hypothesized to have highest risk-were higher than other stratum-specific AORs. Most relative excess risk due to interactions were positive but small (<0.5), with confidence intervals that included zero. These findings provide evidence for the hypothesis of highest birth defect risks among offspring to women who are obese and have low diet quality but insufficient evidence for an interaction of these factors in their contribution to risk. © 2015 Wiley Periodicals, Inc.

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

PubMed

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. < 0.91 mg) than control mothers. During 1 month preconception through the first trimester, mothers of limb deficiency, cleft palate, and cleft lip cases were, respectively, 1.8 (95% CI: 1.1, 3.1), 1.9 (95% CI: 1.2, 3.1), and 1.8 (95% CI: 1.1, 3.1) times more likely than control mothers to ingest ≥ 5.42 mg of nitrate daily (vs. < 1.0 mg). Higher 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.

Analysis of birth defects among children 3 years after conception through assisted reproductive technology in China.

PubMed

Yin, Li; Hang, Fu; Gu, Long-jie; Xu, Bei; Ma, Ding; Zhu, Gui-jin

2013-11-01

Previous studies inconsistently suggest that assisted reproduction technology (ART) may increase the risk of birth defects in children. Live birth infants, conceived by in vitro fertilization fresh embryo transfer (IVF), intracytoplasmic sperm injection fresh embryo transfer (ICSI), or frozen-thawed embryo transfer (FET) in Reproductive Center of Tongji Hospital (Wuhan, China) between 1997 and 2008, were followed up at birth and after 3 years. Preterm pregnancy, multiple pregnancy, sex ratio (male/female), congenital malformation were compared. A total of 4,236 children were born after ART (IVF 2,543, ICSI 908, FET 785). Compared with IVF, the rate of preterm pregnancy and sex ratio in ICSI were lower (p < 0.05); the rate of multiple pregnancy in ICSI and FET were all lower than IVF (p < 0.05). Congenital defects were comparable in all groups at birth. In total, 2,908 children participated in the second follow-up from 34 months to 60 months with an average of 40 months, and the cases of birth defects had doubled (3 years: 5.16%, birth: 2.22%). The birth defect rate in boys conceived through ICSI was significantly higher than the IVF group after 3-year follow-up (ICSI boys: 8.62%, IVF boys: 5.21% [p < 0.05]), even though there was no significant difference at birth. Compared with IVF, FET may not increase risk of birth defects. Children conceived through ICSI, especially males, had higher rates of congenital malformations that were inapparent at birth. So longitudinal monitoring may provide insights into the risks of ART. Copyright © 2013 Wiley Periodicals, Inc., a Wiley company.

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.

PubMed

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.

Microcephaly and Other Birth Defects: Zika

MedlinePlus

... 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 ...

Congenital Heart Defects and Receipt of Special Education Services.

PubMed

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.

38 CFR 21.8020 - Entitlement to vocational training and employment assistance.

Code of Federal Regulations, 2010 CFR

2010-07-01

... Rehabilitation for Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects Basic Entitlement... individual's spina bifida and/or other covered birth defect(s) which are so severe as to necessitate...

Birth defects after use of antithyroid drugs in early pregnancy: a Swedish nationwide study.

PubMed

Andersen, Stine Linding; Lönn, Stefan; Vestergaard, Peter; Törring, Ove

2017-10-01

Antithyroid drugs (ATDs) may have teratogenic effects, but more evidence is needed on the risk and types of birth defects after the use of methimazole (MMI) and propylthiouracil (PTU). This study aimed to evaluate the association between the use of ATDs in early pregnancy and birth defects. Swedish nationwide register-based cohort study. The study included 684 340 children live-born in Sweden from 2006 to 2012. Exposure groups defined by maternal ATD use in early pregnancy were MMI ( n  = 162); PTU ( n  = 218); MMI and PTU ( n  = 66); ATD before or after, but not in pregnancy ( n  = 1551) and non-exposed (never ATD ( n  = 682 343)). Outcome was cumulative incidence of birth defects diagnosed before two years of age. The cumulative incidence of birth defects was not significantly different in children exposed to MMI (6.8%, P  = 0.6) or PTU (6.4%, P  = 0.4) vs non-exposed (8.0%). For subtypes of birth defects, MMI was associated with an increased incidence of septal heart defects ( P  = 0.02). PTU was associated with ear ( P  = 0.005) and obstructive urinary system malformations ( P  = 0.006). A case of choanal atresia was observed after exposure to both MMI and PTU. The incidence of birth defects in children born to mothers who received ATD before or after, but not in pregnancy, was 8.8% and not significantly different from non-exposed ( P  = 0.3), MMI exposed ( P  = 0.4) or PTU exposed ( P  = 0.2). MMI and PTU were associated with subtypes of birth defects previously reported, but the frequency of ATD exposure in early pregnancy was low and severe malformations described in the MMI embryopathy were rarely observed. © 2017 European Society of Endocrinology.

Folic Acid

MedlinePlus

... help prevent other types of birth defects and early pregnancy loss (miscarriage). Since about half of all pregnancies ... correctly every time you have sex. In a survey by the Centers for Disease Control and ... pregnancies were using birth control. 8 Birth defects of ...

Analytic Methods for Evaluating Patterns of Multiple Congenital Anomalies in Birth Defect Registries.

PubMed

Agopian, A J; Evans, Jane A; Lupo, Philip J

2018-01-15

It is estimated that 20 to 30% of infants with birth defects have two or more birth defects. Among these infants with multiple congenital anomalies (MCA), co-occurring anomalies may represent either chance (i.e., unrelated etiologies) or pathogenically associated patterns of anomalies. While some MCA patterns have been recognized and described (e.g., known syndromes), others have not been identified or characterized. Elucidating these patterns may result in a better understanding of the etiologies of these MCAs. This article reviews the literature with regard to analytic methods that have been used to evaluate patterns of MCAs, in particular those using birth defect registry data. A popular method for MCA assessment involves a comparison of the observed to expected ratio for a given combination of MCAs, or one of several modified versions of this comparison. Other methods include use of numerical taxonomy or other clustering techniques, multiple regression analysis, and log-linear analysis. Advantages and disadvantages of these approaches, as well as specific applications, were outlined. Despite the availability of multiple analytic approaches, relatively few MCA combinations have been assessed. The availability of large birth defects registries and computing resources that allow for automated, big data strategies for prioritizing MCA patterns may provide for new avenues for better understanding co-occurrence of birth defects. Thus, the selection of an analytic approach may depend on several considerations. Birth Defects Research 110:5-11, 2018. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Academic Outcomes in Children With Congenital Heart Defects: A Population-Based Cohort Study.

PubMed

Oster, Matthew E; Watkins, Stephanie; Hill, Kevin D; Knight, Jessica H; Meyer, Robert E

2017-02-01

Most studies evaluating neurocognitive outcomes in children with congenital heart defects (CHD) have focused on high-risk patients or used specialized, resource-intensive testing. To determine the association of CHD with academic outcomes and compare outcomes according to the severity of CHD, we linked state educational records with a birth defects registry and birth certificates. We performed a retrospective cohort study using data from the North Carolina Birth Defects Monitoring Program, North Carolina Department of Public Instruction, and North Carolina Department of Health and Human Services vital records. We performed logistic regression, adjusting for maternal education, race/ethnicity, enrollment in public pre-Kindergarten, and gestational age, to determine the association of CHD with not meeting standards on reading and math end-of-grade examinations in third grade in 2006 to 2012. Of 5624 subjects with CHD and 10 832 with no structural birth defects, 2807 (50%) and 6355 (59%) were linked, respectively. Children with CHD had 1.24× the odds of not meeting standards in either reading or math (95% confidence interval, 1.12-1.37), with 44.6% of children with CHD not meeting standards in at least one of these areas compared with 37.5% without CHD. Although children with both critical and noncritical CHD had poorer outcomes, those with critical CHD were significantly more likely to receive exceptional services compared with the noncritical group (adjusted odds ratio, 1.46; 95% confidence interval, 1.15-1.86). Children with all types of CHD have poorer academic outcomes compared with their peers. Evaluation for exceptional services should be considered in children with any type of CHD. © 2017 American Heart Association, Inc.

Birth defects: Risk factors and consequences

PubMed Central

Oliveira, Camila Ive Ferreira; Fett-Conte, Agnes Cristina

2013-01-01

Birth defects (BDs) or congenital anomalies include all structural and functional alterations in embryonic or fetal development resulting from genetic, environmental or unknown causes, which result in physical and/or mental impairment. BDs occur in about 3% of newborn babies and in most cases of pregnancy loss. BDs are a very complex and heterogeneous group of single or multiple changes that, in most cases, are of unknown etiology. Among the risk factors are advanced maternal and paternal ages, parental consanguinity, teratogenic agents such as infectious agents and drugs, and poor nutrition, in particular folic acid deficiency. One of the consequences of these defects is the high death rate within the first year of life. Information on BDs is becoming increasingly more important throughout the world so that preventive measures can be taken. Knowledge of BDs enables the development of therapeutic and preventive strategies besides adequate genetic counseling. PMID:27625844

Active Surveillance of Birth Defects Among US Department of Defense Beneficiaries: A Feasibility Study

DTIC Science & Technology

1999-05-01

cleft palate / lip , upper alimentary, male reproductive, and urinary tract birth defects than the active surveillance database. Prevalence for the...the passive CEIS surveillance contained a smaller number of cleft palate / lip , upper alimentary, male reproductive, and urinary tract birth defects...Cardiovascular 33 29 8 63 Respiratory 4 3 0 4 Cleft palate / lip 12 4 3 14 Upper alimentary

Birth defects among children born to HIV-infected women: Pediatric AIDS Clinical Trials Protocols 219 and 219C

PubMed Central

Brogly, Susan B.; Abzug, Mark J.; Watts, D. Heather; Cunningham, Coleen K.; Williams, Paige L.; Oleske, James; Conway, Daniel; Sperling, Rhoda S.; Spiegel, Hans; Van Dyke, Russell B.

2010-01-01

Background Some studies have detected associations between in utero antiretroviral therapy (ARV) exposure and birth defects but evidence is inconclusive. Methods 2,202 HIV-exposed children enrolled in the Pediatric AIDS Clinical Trials Group 219 and 219C protocols before one year of age were included. Birth defects were classified using the Metropolitan Atlanta Congenital Defects Program (MACDP) coding. Logistic regression models were used to evaluate associations between first trimester in utero ARV exposure and birth defects. Results 117 live-born children had birth defects for a prevalence of 5.3% (95% CI: 4.4, 6.3). Prevalence did not differ by HIV infection status or overall ARV exposure; rates were 4.8% (95% CI: 3.7, 6.1) and 5.8% (95% CI: 4.2, 7.8) in children without and with first trimester ARV exposure, respectively. The defect rate was higher among children with first trimester efavirenz exposure (5/32, 15.6%) versus children without first trimester efavirenz exposure [adjusted odds ratio (aOR)=4.31 (95% CI: 1.56, 11.86)]. Protective effects of first trimester zidovudine exposure on musculoskeletal defects were detected [aOR=0.24 (95% CI: 0.08, 0.69)], while a higher risk of heart defects was found [aOR=2.04 (95% CI: 1.03, 4.05)]. Conclusion The prevalence of birth defects was higher in this cohort of HIV-exposed children than in other pediatric cohorts. There was no association with overall ARV exposure, but there were some associations with specific agents including efavirenz. Additional studies are needed to rule out confounding and to evaluate newer ARV agents. PMID:20539252

Exploring the seasonality of birth defects in the New York State Congenital Malformations Registry.

PubMed

Caton, Alissa R

2012-06-01

Examining seasonal patterns of birth defects may help to identify environmental risk factors. Because the teratogenic window for most birth defects is during gestational weeks 3 to 8, investigating exposures closer to the timing of conception is important. However, studies are usually based on month of birth, which is not the biologically relevant exposure period and does not account for differences in gestational length. We aimed to determine whether the occurrence of birth defects varied by month of conception using the population-based New York State Congenital Malformations Registry (CMR). We merged live birth certificates (n = 2,044,091) with CMR records for mothers residing in New York State, excluding New York City, for the years 1992 through 2006. We categorized birth defects according to the National Birth Defects Prevention Network guidelines and performed Cochran-Armitage trend, Hewitt-Rogerson, and Walter-Elwood tests on month of conception and chi-square tests on season of conception. We graphed seasonal distributions and seasonality test results. We performed stratified analyses by maternal and infant characteristics. Of 42 groups examined in the 15-year period, 24 (57%) had at least one statistically significant test result, suggesting a trend or seasonal variation: Cochran-Armitage (18), Hewitt-Rogerson (17), Walter-Elwood (4), and chi-square (5). Ventricular septal defect showed the most consistent results: Cochran-Armitage (p = 0.0006), Hewitt-Rogerson (December to May; p = 0.0130), Walter-Elwood (March 14; p = 0.0027), and chi-square (winter; p = 0.0046). Congenital cataract, pulmonary valve atresia/stenosis, coarctation of aorta, biliary atresia, and renal agenesis or hypoplasia had at least three significant tests. These results may help to generate hypotheses about environmental factors that vary by season for further studies. Copyright © 2012 Wiley Periodicals, Inc.

Selected birth defects among males following the United States terrorist attacks of 11 September 2001.

PubMed

Singh, Parvati; Yang, Wei; Shaw, Gary M; Catalano, Ralph; Bruckner, Tim A

2017-10-02

The terrorist attacks of 11 September 2001 (hereafter referred to as 9/11) preceded an increase in male fetal deaths and reduced male live births among exposed gestational cohorts across several geographic locations in the United States, including California. We analyze whether the extreme stressor of 9/11 may have selected against frail males in utero by testing if the prevalence of male births with selected defects in California fell among cohorts exposed to the stressor during gestation. We used data from the California Birth Defects Monitoring Program from July 1985 to January 2004 (223 conception cohorts). We included six birth defects that as a group of phenotypes disproportionately affect males. We applied time-series methods and defined as "exposed to 9/11" the cohorts conceived in February, March, April, May, June, July, and August 2001. Three of the seven monthly conception cohorts exposed to 9/11 in utero show lower than expected odds of live born males with the studied defects: February 2001 (odds ratio [OR] = 0.39; 95% confidence interval [CI], 0.21-0.71), May 2001 (OR = 0.36; 95% CI, 0.16-0.81), and August 2001 (OR = 0.51; 95% CI, 0.28-0.93). The population-wide stressor of 9/11 precedes a reduction in the risk of live born males with selected birth defects. Our analysis contributes to the understanding of adaptation to stress among pregnant women exposed to large and unexpected ambient stressors. Results further support the notion that the prevalence of live born defects may reflect temporal variation in cohort selection in utero against frail males. Birth Defects Research 109:1277-1283, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Bendectin and birth defects. II: Ecological analyses.

PubMed

Kutcher, Jeffrey S; Engle, Arnold; Firth, Jacqueline; Lamm, Steven H

2003-02-01

Bendectin was the primary pharmaceutical treatment of nausea and vomiting of pregnancy (NVP) in the United States until the early 1980s. Its manufacture was then discontinued after public allegations that it was causing birth defects. Subsequently, meta-analyses of the many epidemiological cohort and case/control studies used to examine that hypothesis have demonstrated the absence of a detectable teratogenic effect. This study presents an ecological analysis of the same hypothesis that examines specific malformations. Annual birth defect prevalence data for the 1970s to the 1990s have been obtained for specific birth defects from the Center for Disease Control's nationwide Birth Defect Monitoring Program. These data for the US have been compared graphically to the annual US Bendectin sales for the treatment of NVP. Data have also been obtained for annual US rates for hospitalization for NVP. The three data sets have been temporally compared in graphic analysis. The temporal trends in prevalence rates for specific birth defects examined from 1970 through 1992 did not show changes that reflected the cessation of Bendectin use over the 1980-84 period. Further, the NVP hospitalization rate doubled when Bendectin use ceased. The population results of the ecological analyses complement the person-specific results of the epidemiological analyses in finding no evidence of a teratogenic effect from the use of Bendectin.

Application of data screening to drug exposure in large risk factor studies of birth defects.

PubMed

Louik, Carol; Werler, Martha; Anderka, Marlene; Mitchell, Allen A

2015-08-01

Birth defects are the leading cause of infant death. While causes of most are unknown, those that might be due to medication use are among the most preventable. This study describes an approach to identifying those medications that most warrant attention by using a "screen" program that calculates odds ratios for pairs of exposures and specific birth defects. We discuss the development of this tool and illustrate its application to two large risk factor studies, the Slone Epidemiology Center's Birth Defects Study and the Centers for Disease Control and Prevention's National Birth Defects Prevention Study, ideal settings for the systematic study of risks and relative safety of drugs in relation to birth defects while recognizing the inherent limitations of such an approach. Suggestions for establishing criteria for exposures and outcomes that balance the need for specific details with the practical considerations of sample size and volume of output are presented. Selection of appropriate exposure reference categories and control groups is also discussed, as well as the need to address potential confounding. An example that motivated a detailed investigation of possible associations between a medication (butalbital) and selected specific birth defects is provided. While screening programs such as the one described can be a valuable tool for exploring potential associations in large data bases, they must be applied with caution. The issue of multiple testing and chance findings is a major concern. While statistics are a necessary component, human judgment must be an integral part of the process. © 2015 Wiley Periodicals, Inc.

Reproductive health and pregnancy outcomes among French gulf war veterans

PubMed Central

Verret, Catherine; Jutand, Mathe-Aline; De Vigan, Catherine; Bégassat, Marion; Bensefa-Colas, Lynda; Brochard, Patrick; Salamon, Roger

2008-01-01

Background Since 1993, many studies on the health of Persian Gulf War veterans (PGWVs) have been undertaken. Some authors have concluded that an association exists between Gulf War service and reported infertility or miscarriage, but that effects on PGWV's children were limited. The present study's objective was to describe the reproductive outcome and health of offspring of French Gulf War veterans. Methods The French Study on the Persian Gulf War (PGW) and its Health Consequences is an exhaustive cross-sectional study on all French PGWVs conducted from 2002 to 2004. Data were collected by postal self-administered questionnaire. A case-control study nested in this cohort was conducted to evaluate the link between PGW-related exposures and fathering a child with a birth defect. Results In the present study, 9% of the 5,666 Gulf veterans who participated reported fertility disorders, and 12% of male veterans reported at least one miscarriage among their partners after the PGW. Overall, 4.2% of fathers reported at least one child with a birth defect conceived after the mission. No PGW-related exposure was associated with any birth defect in children fathered after the PGW mission. Concerning the reported health of children born after the PGW, 1.0% of children presented a pre-term delivery and 2.7% a birth defect. The main birth defects reported were musculoskeletal malformations (0.5%) and urinary system malformations (0.3%). Birth defect incidence in PGWV children conceived after the mission was similar to birth defect incidence described by the Paris Registry of Congenital Malformations, except for Down syndrome (PGWV children incidence was lower than Registry incidence). Conclusion This study did not highlight a high frequency of fertility disorders or miscarriage among French PGW veterans. We found no evidence for a link between paternal exposure during the Gulf War and increased risk of birth defects among French PGWV children. PMID:18442369

Understanding the Basis of Auriculocondylar Syndrome: Insights From Human and Mouse Genetic Studies

PubMed Central

Clouthier, David E.; Passos Bueno, Maria Rita; Tavares, Andre L.P.; Lyonnet, Stanislas; Amiel, Jeanne; Gordon, Christopher T.

2014-01-01

Among human birth defect syndromes, malformations affecting the face are perhaps the most striking due to cultural and psychological expectations of facial shape. One such syndrome is auriculocondylar syndrome (ACS), in which patients present with defects in ear and mandible development. Affected structures arise from cranial neural crest cells, a population of cells in the embryo that reside in the pharyngeal arches and give rise to most of the bone, cartilage and connective tissue of the face. Recent studies have found that most cases of ACS arise from defects in signaling molecules associated with the endothelin signaling pathway. Disruption of this signaling pathway in both mouse and zebrafish results in loss of identity of neural crest cells of the mandibular portion of the first pharyngeal arch and the subsequent repatterning of these cells, leading to homeosis of lower jaw structures into more maxillary-like structures. These findings illustrate the importance of endothelin signaling in normal human craniofacial development and illustrate how clinical and basic science approaches can coalesce to improve our understanding of the genetic basis of human birth syndromes. Further, understanding the genetic basis for ACS that lies outside of known endothelin signaling components may help elucidate unknown aspects critical to the establishment of neural crest cell patterning during facial morphogenesis. PMID:24123988

Impact of sample collection participation on the validity of estimated measures of association in the National Birth Defects Prevention Study when assessing gene-environment interactions.

PubMed

Jenkins, Mary M; Reefhuis, Jennita; Herring, Amy H; Honein, Margaret A

2017-12-01

To better understand the impact that nonresponse for specimen collection has on the validity of estimates of association, we examined associations between self-reported maternal periconceptional smoking, folic acid use, or pregestational diabetes mellitus and six birth defects among families who did and did not submit buccal cell samples for DNA following a telephone interview as part of the National Birth Defects Prevention Study (NBDPS). Analyses included control families with live born infants who had no birth defects (N = 9,465), families of infants with anorectal atresia or stenosis (N = 873), limb reduction defects (N = 1,037), gastroschisis (N = 1,090), neural tube defects (N = 1,764), orofacial clefts (N = 3,836), or septal heart defects (N = 4,157). Estimated dates of delivery were between 1997 and 2009. For each exposure and birth defect, odds ratios and 95% confidence intervals were calculated using logistic regression stratified by race-ethnicity and sample collection status. Tests for interaction were applied to identify potential differences between estimated measures of association based on sample collection status. Significant differences in estimated measures of association were observed in only four of 48 analyses with sufficient sample sizes. Despite lower than desired participation rates in buccal cell sample collection, this validation provides some reassurance that the estimates obtained for sample collectors and noncollectors are comparable. These findings support the validity of observed associations in gene-environment interaction studies for the selected exposures and birth defects among NBDPS participants who submitted DNA samples. Published 2017. This article is a U.S. Government work and is in the public domain in the USA.

Associations between Maternal Water Consumption and Birth Defects in the National Birth Defects Prevention Study (2000-2005).

PubMed

Alman, Breanna L; Coffman, Evan; Siega-Riz, Anna Maria; Luben, Thomas J

2017-02-15

Water and water-based beverages constitute a major part of daily fluid intake for pregnant women, yet few epidemiologic studies have investigated the role of water consumption on birth outcomes. We used data from the National Birth Defects Prevention Study to conduct a case-control study investigating associations between maternal water consumption during pregnancy and birth defects (BD). We used interview data on water consumption during the first trimester of pregnancy in 14,454 cases (major BDs n ≥ 50) and 5,063 controls. Total water consumption was analyzed as a continuous variable and in quartiles. We evaluated the role of dietary quality and sugar sweetened beverage consumption. Logistic regression models were used to assess effects of water consumption on risk of BDs with adjustment for relevant covariates. Mean daily maternal water consumption among controls was 4.4 eight-ounce glasses. We observed decreases in estimated risk associated with increases in water consumption for several BDs, including neural tube defects (spina bifida), oral clefts (cleft lip), musculoskeletal defects (gastroschisis, limb deficiencies), and congenital heart defects (hypoplastic left heart syndrome, right-sided obstructions, pulmonary valve stenosis). Our results were generally unchanged when an indicator for overall dietary quality was included; however, there was evidence of effect measure modification by heavy consumption of sugar-sweetened beverages for some defects, but not all. These analyses suggest the importance of sufficient water consumption during early pregnancy, above and beyond it being a marker of higher diet quality. Additional analyses are warranted to understand the biological mechanism for this association. Birth Defects Research 109:193-202, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Neural Tube Defects in Costa Rica, 1987–2012: Origins and Development of Birth Defect Surveillance and Folic Acid Fortification

PubMed Central

de la Paz Barboza-Argüello, María; Umaña-Solís, Lila M.; Azofeifa, Alejandro; Valencia, Diana; Flores, Alina L.; Rodríguez-Aguilar, Sara; Alfaro-Calvo, Thelma; Mulinare, Joseph

2015-01-01

Our aim was to provide a descriptive overview of how the birth defects surveillance and folic acid fortification programs were implemented in Costa Rica—through the establishment of the Registry Center for Congenital Anomalies (Centro de Registro de Enfermedades Congénitas—CREC), and fortification legislation mandates. We estimated the overall prevalence of neural tube defects (i.e., spina bifida, anencephaly and encephalocele) before and after fortification captured by CREC. Prevalence was calculated by dividing the total number of infants born with neural tube defects by the total number of live births in the country (1987–2012).A total of 1,170 newborns with neural tube defects were identified from 1987 to 2012 (1992–1995 data excluded); 628 were identified during the baseline pre-fortification period (1987–1991; 1996–1998); 191 during the fortification period (1999–2002); and 351 during the post-fortification time period (2003–2012). The overall prevalence of neural tube defects decreased from 9.8 per 10,000 live-births (95 % CI 9.1–10.5) for the pre-fortification period to 4.8 per 10,000 live births (95 % CI 4.3–5.3) for the post–fortification period. Results indicate a statistically significant (P < 0.05) decrease of 51 % in the prevalence of neural tube defects from the pre-fortification period to the post-fortification period. Folic acid fortification via several basic food sources has shown to be a successful public health intervention for Costa Rica. Costa Rica’s experience can serve as an example for other countries seeking to develop and strengthen both their birth defects surveillance and fortification programs. PMID:24952876

Neural tube defects in Costa Rica, 1987-2012: origins and development of birth defect surveillance and folic acid fortification.

PubMed

Barboza-Argüello, María de la Paz; Umaña-Solís, Lila M; Azofeifa, Alejandro; Valencia, Diana; Flores, Alina L; Rodríguez-Aguilar, Sara; Alfaro-Calvo, Thelma; Mulinare, Joseph

2015-03-01

Our aim was to provide a descriptive overview of how the birth defects surveillance and folic acid fortification programs were implemented in Costa Rica-through the establishment of the Registry Center for Congenital Anomalies (Centro de Registro de Enfermedades Congénitas-CREC), and fortification legislation mandates. We estimated the overall prevalence of neural tube defects (i.e., spina bifida, anencephaly and encephalocele) before and after fortification captured by CREC. Prevalence was calculated by dividing the total number of infants born with neural tube defects by the total number of live births in the country (1987-2012).A total of 1,170 newborns with neural tube defects were identified from 1987 to 2012 (1992-1995 data excluded); 628 were identified during the baseline pre-fortification period (1987-1991; 1996-1998); 191 during the fortification period (1999-2002); and 351 during the post-fortification time period (2003-2012). The overall prevalence of neural tube defects decreased from 9.8 per 10,000 live-births (95 % CI 9.1-10.5) for the pre-fortification period to 4.8 per 10,000 live births (95 % CI 4.3-5.3) for the post-fortification period. Results indicate a statistically significant (P < 0.05) decrease of 51 % in the prevalence of neural tube defects from the pre-fortification period to the post-fortification period. Folic acid fortification via several basic food sources has shown to be a successful public health intervention for Costa Rica. Costa Rica's experience can serve as an example for other countries seeking to develop and strengthen both their birth defects surveillance and fortification programs.

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

PubMed

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 < 0.01) in 1992-2010. Of 1,048 children with 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.

Use of Antihistamine Medications During Early Pregnancy and Isolated Major Malformations

PubMed Central

Gilboa, Suzanne M.; Strickland, Matthew J.; Olshan, Andrew F.; Werler, Martha M.; Correa, Adolfo

2013-01-01

BACKGROUND Antihistamines are commonly used during pregnancy. There is little evidence that they have teratogenic effects, but there are knowledge gaps with respect to newer products, as well as the relationship between specific antihistamines and specific birth defects. METHODS Using the National Birth Defects Prevention Study (1997-2003), the authors examined associations between maternal use of 14 antihistamines during early pregnancy and 26 isolated major birth defects. A Bayesian analysis incorporating prior knowledge about the relationships between the antihistamines, birth defects, and measured covariates was conducted. RESULTS Of the 364 associations investigated, 24 had 95% posterior intervals excluding 1.0. All 24 associations were positive; 23 associations were of weak to moderate magnitude (posterior odds ratio [OR] < 3.0) and one was strong (OR > 6.0) but very imprecise. Of the 24 associations, 20 were with non-cardiac defects. Eight associations involved the antihistamine diphenhydramine. CONCLUSIONS The results of this study generally were consistent with no association between birth defects and antihistamine use during early pregnancy. Several of the findings might warrant further investigation, although the observed elevated associations should be interpreted in the context of the number of associations investigated and the analysis of retrospective, self-reported data. PMID:19161158

Birth Defects in Infants Born in 1998-2004 to Men and Women Serving in the US Military During the 1990-1991 Gulf War Era

DTIC Science & Technology

2012-08-18

vaccinations , medication, and pesticides) and the prevalence of birth defects in the chil- dren of male Gulf War veterans. In our study, deploy- ment-specific...Defects Res A Clin Mol Teratol 70:572–579. Reichenberg A, Gross R, Weiser M, et al. 2006. Advancing paternal age and autism . Arch Gen Psychiatry 63...received smallpox vaccine . Birth Defects Res A Clin Mol Teratol 82:533–539. Ryan MA, Pershyn-Kisor MA, Honner WK, et al. 2001. The Department of Defense

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

PubMed

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 with 1,2-dichloroethane (aOR 1.93, 95% 1.05, 3.54), cleft lip with or without cleft palate with ethyl chloride (aOR 1.81, 95% CI 1.06, 3.07), and obstructive heart defects with trichloroethylene (aOR 1.43, 95% CI 1.08, 1.88). These findings suggest that maternal residential proximity to industrial emissions of chlorinated solvents might be associated with selected birth defects in offspring, especially among older mothers.

Hospitalizations and associated costs in a population-based study of children with Down syndrome born in Florida.

PubMed

Dawson, April L; Cassell, Cynthia H; Oster, Matthew E; Olney, Richard S; Tanner, Jean Paul; Kirby, Russell S; Correia, Jane; Grosse, Scott D

2014-11-01

Our objective was to examine differences in hospital resource usage for children with Down syndrome by age and the presence of other birth defects, particularly severe and nonsevere congenital heart defects (CHDs). This was a retrospective, population-based, statewide study of children with Down syndrome born 1998 to 2007, identified by the Florida Birth Defects Registry (FBDR) and linked to hospital discharge records for 1 to 10 years after birth. To evaluate hospital resource usage, descriptive statistics on number of hospitalized days and hospital costs were calculated. Results were stratified by isolated Down syndrome (no other coded major birth defect); presence of severe and nonsevere CHDs; and presence of major FBDR-eligible birth defects without CHDs. For 2552 children with Down syndrome, there were 6856 inpatient admissions, of which 68.9% occurred during the first year of life (infancy). Of the 2552 children, 31.7% (n = 808) had isolated Down syndrome, 24.0% (n = 612) had severe CHDs, 36.3% (n = 927) had nonsevere CHDs, and 8.0% (n = 205) had a major FBDR-eligible birth defect in the absence of CHD. Infants in all three nonisolated DS groups had significantly higher hospital costs compared with those with isolated Down syndrome. From infancy through age 4, children with severe CHDs had the highest inpatient costs compared with children in the other sub-groups. Results support findings that for children with Down syndrome the presence of other anomalies influences hospital use and costs, and children with severe CHDs have greater hospital resource usage than children with other CHDs or major birth defects without CHDs. © 2014 Wiley Periodicals, Inc.

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

PubMed

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.

Colpocephaly

MedlinePlus

... Organizations Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane Suite 104 Orlando FL Orlando, FL ... Organizations Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane Suite 104 Orlando FL Orlando, FL ...

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

PubMed

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.

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

PubMed Central

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.

2016-01-01

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. PMID:25473985

National Newborn Screening and Genetics Resource Center

MedlinePlus

... GENERAL INFORMATION Conditions Screened by US Programs General Resources Genetics Birth Defects Hearing Screening FOR PROFESSIONALS ACT Sheets(ACMG) General Resources Newborn Screening Genetics Birth Defects FOR FAMILIES FAQs ...

Who Should Be Targeted for the Prevention of Birth Defects? A Latent Class Analysis Based on a Large, Population-Based, Cross-Sectional Study in Shaanxi Province, Western China.

PubMed

Zhu, Zhonghai; Cheng, Yue; Yang, Wenfang; Li, Danyang; Yang, Xue; Liu, Danli; Zhang, Min; Yan, Hong; Zeng, Lingxia

2016-01-01

The wide range and complex combinations of factors that cause birth defects impede the development of primary prevention strategies targeted at high-risk subpopulations. Latent class analysis (LCA) was conducted to identify mutually exclusive profiles of factors associated with birth defects among women between 15 and 49 years of age using data from a large, population-based, cross-sectional study conducted in Shaanxi Province, western China, between August and October, 2013. The odds ratios (ORs) and 95% confidence intervals (CIs) of associated factors and the latent profiles of indicators of birth defects and congenital heart defects were computed using a logistic regression model. Five discrete subpopulations of participants were identified as follows: No folic acid supplementation in the periconceptional period (reference class, 21.37%); low maternal education level + unhealthy lifestyle (class 2, 39.75%); low maternal education level + unhealthy lifestyle + disease (class 3, 23.71%); unhealthy maternal lifestyle + advanced age (class 4, 4.71%); and multi-risk factor exposure (class 5, 10.45%). Compared with the reference subgroup, the other subgroups consistently had a significantly increased risk of birth defects (ORs and 95% CIs: class 2, 1.75 and 1.21-2.54; class 3, 3.13 and 2.17-4.52; class 4, 5.02 and 3.20-7.88; and class 5, 12.25 and 8.61-17.42, respectively). For congenital heart defects, the ORs and 95% CIs were all higher, and the magnitude of OR differences ranged from 1.59 to 16.15. A comprehensive intervention strategy targeting maternal exposure to multiple risk factors is expected to show the strongest results in preventing birth defects.

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

PubMed

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.

The National Birth Defects Prevention Study: a review of the methods

PubMed Central

Reefhuis, Jennita; Gilboa, Suzanne M.; Anderka, Marlene; Browne, Marilyn L.; Feldkamp, Marcia L.; Hobbs, Charlotte A.; Jenkins, Mary M.; Langlois, Peter H.; Newsome, Kimberly B.; Olshan, Andrew F.; Romitti, Paul A.; Shapira, Stuart K.; Shaw, Gary M.; Tinker, Sarah C.; Honein, Margaret A.

2015-01-01

Background The National Birth Defects Prevention Study (NBDPS) is a large population-based multi-center case-control study of major birth defects in the United States. Methods Data collection took place from 1998 through 2013 on pregnancies ending between October 1997 and December 2011. Cases could be live born, stillborn or induced terminations, and were identified from birth defects surveillance programs in Arkansas, California, Georgia, Iowa, Massachusetts, New Jersey, New York, North Carolina, Texas and Utah. Controls were live born infants without major birth defects identified from the same geographical regions and time periods as cases via either vital records or birth hospitals. Computer-assisted telephone interviews were completed with women between 6 weeks and 24 months after the estimated date of delivery. After completion of interviews, families received buccal cell collection kits for the mother, father and infant (if living). Results There were 47,832 eligible cases and 18,272 eligible controls. Among these, 32,187 (67%) and 11,814 (65%) respectively, provided interview information about their pregnancies. Buccal cell collection kits with a cytobrush for at least one family member were returned by 19,065 case and 6,211 control families (65% and 59% of those who were sent a kit). More than 500 projects have been proposed by the collaborators and over 200 manuscripts published using data from the NBDPS through December 2014. Conclusion The NBDPS has made substantial contributions to the field of birth defects epidemiology through its rigorous design, including case classification, detailed questionnaire and specimen collection, large study population, and collaborative activities across Centers. PMID:26033852

The National Birth Defects Prevention Study: A review of the methods.

PubMed

Reefhuis, Jennita; Gilboa, Suzanne M; Anderka, Marlene; Browne, Marilyn L; Feldkamp, Marcia L; Hobbs, Charlotte A; Jenkins, Mary M; Langlois, Peter H; Newsome, Kimberly B; Olshan, Andrew F; Romitti, Paul A; Shapira, Stuart K; Shaw, Gary M; Tinker, Sarah C; Honein, Margaret A

2015-08-01

The National Birth Defects Prevention Study (NBDPS) is a large population-based multicenter case-control study of major birth defects in the United States. Data collection took place from 1998 through 2013 on pregnancies ending between October 1997 and December 2011. Cases could be live born, stillborn, or induced terminations, and were identified from birth defects surveillance programs in Arkansas, California, Georgia, Iowa, Massachusetts, New Jersey, New York, North Carolina, Texas, and Utah. Controls were live born infants without major birth defects identified from the same geographical regions and time periods as cases by means of either vital records or birth hospitals. Computer-assisted telephone interviews were completed with women between 6 weeks and 24 months after the estimated date of delivery. After completion of interviews, families received buccal cell collection kits for the mother, father, and infant (if living). There were 47,832 eligible cases and 18,272 eligible controls. Among these, 32,187 (67%) and 11,814 (65%), respectively, provided interview information about their pregnancies. Buccal cell collection kits with a cytobrush for at least one family member were returned by 19,065 case and 6,211 control families (65% and 59% of those who were sent a kit). More than 500 projects have been proposed by the collaborators and over 200 manuscripts published using data from the NBDPS through December 2014. The NBDPS has made substantial contributions to the field of birth defects epidemiology through its rigorous design, including case classification, detailed questionnaire and specimen collection, large study population, and collaborative activities across Centers. © 2015 Wiley Periodicals, Inc.

RELATIONAHIP BETWEEN AMBIENT AIR QUALITY AND SELECTED BIRTH DEFECTS, SEVEN COUNTY STUDY, TEXAS, 1997-2000

EPA Science Inventory

A population-based case-control study investigated the association between maternal exposure to criteria air pollutants, CO, NO2, O3, SO2, and PM10 during weeks three through eight of pregnancy, and the risk of selected cardiac birth defects and oral clefts among live births and ...

Changes in detection of birth defects and perinatal mortality after introduction of prenatal ultrasound screening in the Kola Peninsula (North-West Russia): combination of two birth registries.

PubMed

Postoev, Vitaly A; Grjibovski, Andrej M; Nieboer, Evert; Odland, Jon Øyvind

2015-11-23

Prenatal diagnostics ultrasound was established in Russia in 2000 as a routine method of screening for birth defects. The aims of the current study were twofold: to assess changes in birth defects prevalence at birth and perinatal mortality after ultrasound screening was implemented and to estimate prenatal detection rates for congenital malformations in the city of Monchegorsk (Murmansk County, North-West Russia). The Murmansk County Birth Registry and the Kola Birth Registry were the primary sources of information, and include 30 448 pregnancy outcomes in Monchegorsk for the period 1973-2011. Data from these registries were supplemented with information derived from hospital records about pregnancy terminations for 2000-2007. The total number of newborns with any kind of birth defects in Monchegorsk during 1973-2011 was 1099, of whom 816 were born in the 1973-2000 period. The prevalence of defects at birth increased from 34.2/1000 (95% CI = 31.9-36.5) to 42.8/1000 newborns (95% CI = 38.0-47.7) after prenatal ultrasound screening was formally implemented. We observed significant decreases (p < 0.05) in the birth prevalence of congenital malformations of the circulatory system, the musculoskeletal system (including deformations), and other (excluding multiple); those of the urinary system increased from 0.9/1000 to 17.1/1000 (p < 0.0001). The perinatal mortality among newborns with any kind of malformation decreased from 106.6 per 1000 newborns with birth defects (95% CI = 84.3-129.1) to 21.2 (95 % CI = 4.3-38.1). Mothers who had undergone at least one ultrasound examination during pregnancy (n = 9883) had a decreased risk of having a newborn die during the perinatal period [adjusted OR = 0.49 (95% CI = 0.27-0.89)]. The overall prenatal detection rate was 34.9% with the highest for malformations of the nervous system. Improved detection of severe malformations with subsequent pregnancy termination was likely the main contributor to the observed decrease in perinatal mortality in Murmansk County, Russia.

Diprosopus: Systematic review and report of two cases.

PubMed

Bidondo, María Paz; Groisman, Boris; Tardivo, Agostina; Tomasoni, Fabián; Tejeiro, Verónica; Camacho, Inés; Vilas, Mariana; Liascovich, Rosa; Barbero, Pablo

2016-12-01

Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29). Diprosopus prevalence was 2 per 1,000,000 births (95% confidence interval, 0.2-6.8). In the systematic review, we identified 31 diprosopus cases. The facial structures more frequently duplicated were nose and eyes. Most frequent associated anomalies were: anencephaly, duplication of cerebral hemispheres, craniorachischisis, oral clefts, spinal abnormalities, congenital heart defects, diaphragmatic hernia, thoracic and/or abdominal visceral laterality anomalies. One of the RENAC cases and three cases from the literature had another discordant nonmalformed twin. The conjoined twins prevalence was similar to other studies. The prevalence of diprosopus was higher. The etiology is still unknown. The presence of visceral laterality anomalies may indicate the link between diprosopus and the alteration or duplication of the primitive node in the perigastrulation period (12-15 days postfertilization). Pregnancies of more than two embryos may be a risk factor for diprosopus. Given the low prevalence of this defect, it would be useful to perform studies involving several surveillance systems and international consortiums. Birth Defects Research (Part A), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part A) 106:993-1007, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Application of the automated spatial surveillance program to birth defects surveillance data.

PubMed

Gardner, Bennett R; Strickland, Matthew J; Correa, Adolfo

2007-07-01

Although many birth defects surveillance programs incorporate georeferenced records into their databases, practical methods for routine spatial surveillance are lacking. We present a macroprogram written for the software package R designed for routine exploratory spatial analysis of birth defects data, the Automated Spatial Surveillance Program (ASSP), and present an application of this program using spina bifida prevalence data for metropolitan Atlanta. Birth defects surveillance data were collected by the Metropolitan Atlanta Congenital Defects Program. We generated ASSP maps for two groups of years that correspond roughly to the periods before (1994-1998) and after (1999-2002) folic acid fortification of flour. ASSP maps display census tract-specific spina bifida prevalence, smoothed prevalence contours, and locations of statistically elevated prevalence. We used these maps to identify areas of elevated prevalence for spina bifida. We identified a large area of potential concern in the years following fortification of grains and cereals with folic acid. This area overlapped census tracts containing large numbers of Hispanic residents. The potential utility of ASSP for spatial disease monitoring was demonstrated by the identification of areas of high prevalence of spina bifida and may warrant further study and monitoring. We intend to further develop ASSP so that it becomes practical for routine spatial monitoring of birth defects. (c) 2007 Wiley-Liss, Inc.

Vitamin K antagonists and pregnancy outcome. A multi-centre prospective study.

PubMed

Schaefer, Christof; Hannemann, Doreen; Meister, Reinhard; Eléfant, Elisabeth; Paulus, Wolfgang; Vial, Thierry; Reuvers, Minke; Robert-Gnansia, Elisabeth; Arnon, Judy; De Santis, Marco; Clementi, Maurizio; Rodriguez-Pinilla, Elvira; Dolivo, Alla; Merlob, Paul

2006-06-01

Vitamin K antagonists (VKA) are known to act as teratogens; however, there is still uncertainty about the relative risk for birth defects and the most sensitive period. In a multi-centre (n = 12), observational, prospective study we compared 666 pregnant women exposed to phenprocoumon (n = 280), acenocoumarol (n = 226), fluindione (n = 99), warfarin (n = 63) and phenindione (n = 2) to a non-exposed control group (n = 1,094). Data were collected by institutes collaborating in the European Network of Teratology Information Services (ENTIS) during individual risk counselling between 1988 and 2004. Main outcome measures were coumarin embryopathy and other birth defects, miscarriage rate, birth-weight, and prematurity. The rate of major birth defects after 1st trimester exposure was significantly increased (OR 3.86, 95% CI 1.86-8.00). However, there were only two coumarin embryopathies (0.6%; both phenprocoumon). Prematurity was more frequent (16.0% vs. 7.6%, OR 2.61, 95% CI 1.76-3.86), mean gestational age at delivery (37.9 vs.39.4, p<0.001), and mean birth weight of term infants (3,166 g vs. 3,411 g; p < 0.001) were lower compared to the controls. Using the methodology of survival analysis, miscarriage rate reached 42% vs. 14% (hazard ratio 3.36; 95% CI 2.28-4.93). In conclusion, use of VKA during pregnancy increases the risk of structural defects and other adverse pregnancy outcomes. The risk for coumarin embryopathy is, however, very small, in particular when therapy during the 1(st) trimester did not take place later than week 8 after the 1(st) day of the last menstrual period. Therefore, elective termination of a wanted pregnancy is not recommended if (inadvertent) exposure took place in early pregnancy. Close follow-up by the obstetrician including level II ultrasound should be recommended in any case of VKA exposure during pregnancy.

Lymphoedema in Hereditary Recurrent Cholestasis from Birth

PubMed Central

Aagenaes, Øystein; Sigstad, Helge; Bjørn-Hansen, Ragnar

1970-01-01

An inherited disorder characterized by a combination of lymphoedema and intrahepatic cholestasis is described in a Norwegian kindred. The jaundice is evident soon after birth, and recurrent episodes occur throughout life. The oedema starts at about school age and subsequently progresses; it is due to hypoplasia of the lymph vessels of the lower extremities. The cause of the cholestasis has not been established, but a structural intrahepatic developmental defect is suggested. ImagesFIG. 2FIG. 3FIG. 4FIG. 5FIG. 6 PMID:5477684

Uses of available record systems in epidemiologic studies of reproductive toxicology

DOE Office of Scientific and Technical Information (OSTI.GOV)

Polednak, A.P.; Janerich, D.T.

The uses of available record systems in epidemiologic studies of reproductive toxicology are described with reference to New York State. The available record systems (and relevant reproductive end points) described include: a newborn screening program for metabolic diseases and hemoglobinopathies (relevant to point mutations); chromosome registries and prenatal cytogenetics (for chromosome anomalies); live birth certificates (for birth defects, birthweight, sex ratio, etc); fetal death certificates (for spontaneous fetal deaths); and a statewide cancer registry (for childhood cancers and transplacental carcinogenesis). The uses and limitations of these record systems are discussed, along with examples of their use in descriptive and analyticmore » epidemiologic studies. Descriptive studies outlined include investigations of temporal and geographic trends in birth defects, birth weight, and fetal deaths, with reference to environmental questions (eg, Love Canal, nuclear power plants). Analytic studies described concern parental occupation in relation to specific birth defects (neural tube defects and Down syndrome) and maternal use of contraceptive drugs.« less

Treatment of Amino Acid Metabolism Disorders

MedlinePlus

... unit (NICU) Birth defects & other health conditions Loss & grief Tools & Resources Frequently asked health questions Calculating your ... unit (NICU) Birth defects & other health conditions Loss & grief Tools & Resources Frequently asked health questions Calculating your ...

Birth Defects Research and Tracking

MedlinePlus

... least one month before getting pregnant and during early pregnancy lowers the risk of having a baby with ... 2017) Key Findings: Use of Pain Medicine During Early Pregnancy May Be Related To Birth Defects A study ...

3D characterization of EMT cell density in developing cardiac cushions using optical coherence tomography (Conference Presentation)

NASA Astrophysics Data System (ADS)

Yu, Siyao; Gu, Shi; Zhao, Xiaowei; Liu, Yehe; Jenkins, Michael W.; Watanabe, Michiko; Rollins, Andrew M.

2017-02-01

Congenital heart defects (CHDs) are the most common birth defect, affecting between 4 and 75 per 1,000 live births depending on the inclusion criteria. Many of these defects can be traced to defects of cardiac cushions, critical structures during development that serve as precursors to many structures in the mature heart, including the atrial and ventricular septa, and all four sets of cardiac valves. Epithelial-mesenchymal transition (EMT) is the process through which cardiac cushions become populated with cells. Altered cushion size or altered cushion cell density has been linked to many forms of CHDs, however, quantitation of cell density in the complex 3D cushion structure poses a significant challenge to conventional histology. Optical coherence tomography (OCT) is a technique capable of 3D imaging of the developing heart, but typically lacks the resolution to differentiate individual cells. Our goal is to develop an algorithm to quantitatively characterize the density of cells in the developing cushion using 3D OCT imaging. First, in a heart volume, the atrioventricular (AV) cushions were manually segmented. Next, all voxel values in the region of interest were pooled together to generate a histogram. Finally, two populations of voxels were classified using either K-means classification, or a Gaussian mixture model (GMM). The voxel population with higher values represents cells in the cushion. To test the algorithm, we imaged and evaluated avian embryonic hearts at looping stages. As expected, our result suggested that the cell density increases with developmental stages. We validated the technique against scoring by expert readers.

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

EPA Science Inventory

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

PubMed Central

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 birth defects. The aim of this study is to describe the birth prevalence of CLD in the northern Netherlands. Methods 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. Results 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 < 0.01) in 1992–2010. Of 1,048 children with 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). Conclusions 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. PMID:24237863

Congenital anomalies, prematurity, and low birth weight rates in relation to nuclear power plant proximity1).

PubMed

Mangones, Tania; Visintainer, Paul; Brumberg, Heather L

2013-07-01

The objective of this study was to determine whether maternal residential proximity to a nuclear reactor is associated with prevalence of certain birth defects. The New York State Vital Statistics and Congenital Malformations Registry data (1992-2001) were analyzed for five Hudson Valley counties in a 20-mile radius from the Indian Point nuclear reactor (Buchanan, NY, USA). Four zones of 5-mile increments were used to categorize proximity to the reactor. Data included congenital anomalies, low birth weight, and prematurity. Over the 10-year period, 702 malformations in 666 children were identified from a birth population of 328,124, yielding a regional rate of 2.1 major malformations per 1000 births. The prevalence of defects, low birth weight, and prematurity were not related to proximity to the nuclear power plant. These data did not substantiate an association between maternal proximity to the reactor and certain birth defects and provide baseline data for comparison in the event of a nuclear accident.

Maternal Exposure to Traffic-Related Air Pollution and Birth Defects in Massachusetts

PubMed Central

Girguis, Mariam S.; Strickland, Matthew J.; Hu, Xuefei; Liu, Yang; Bartell, Scott M.; Vieira, Verónica M.

2015-01-01

Exposures to particulate matter with diameter of 2.5 µm or less (PM2.5) may influence risk of birth defects. We estimated associations between maternal exposure to prenatal traffic-related air pollution and risk of cardiac, orofacial, and neural tube defects among Massachusetts births conceived 2001 through 2008. Our analyses included 2,729 cardiac, 255 neural tube, and 729 orofacial defects. We used satellite remote sensing, meteorological and land use data to assess PM2.5 and traffic-related exposures (distance to roads and traffic density) at geocoded birth addresses. We calculated adjusted odds ratios (OR) and confidence intervals (CI) using logistic regression models. Generalized additive models were used to assess spatial patterns of birth defect risk. There were positive but non-significant associations for a 10µg/m3 increase in PM2.5 and perimembranous ventricular septal defects (OR = 1.34, 95% CI: 0.98, 1.83), patent foramen ovale (OR = 1.19, 95% CI: 0.92, 1.54) and patent ductus arteriosus (OR = 1.20, 95% CI: 0.95, 1.62). There was a non-significant inverse association between PM2.5 and cleft lip with or without palate (OR = 0.76, 95% CI: 0.50, 1.10), cleft palate only (OR= 0.89, 95% CI: 0.54, 1.46) and neural tube defects (OR= 0.77, 95% CI: 0.46, 1.05). Results for traffic related exposure were similar. Only ostium secundum atrial septal defects displayed significant spatial variation after accounting for known risk factors. PMID:26705853

Regional bias in birth defect prevalence rates for Arkansas: influence of incomplete ascertainment along surveillance system borders.

PubMed

Mosley, Bridget S; Simmons, Caroline J; Cleves, Mario A; Hobbs, Charlotte A

2002-01-01

As part of the continuing evaluation of the Arkansas Reproductive Health Monitoring System (ARHMS), we assessed the effects on birth defect prevalence rates introduced by incomplete case ascertainment along surveillance boundaries. Using data from ARHMS and Arkansas Vital Statistics for 1993-1998, we determined birth defect prevalence rates (per 10,000 live births), stratified by race, among three geographic comparison groups of counties. These included: (1) the Northeast Group, near the state border at Memphis, Tennessee; (2) the Central Group, surrounding Little Rock, Arkansas; and (3) the Southwest Group, near Texarkana, Texas. These counties have similar socioeconomic measures and proximity to health care facilities, but are differentiated by limitations imposed by ARHMS' surveillance borders. Maternal age-standardized rates from the control groups were used to impute expected rates, for the Northeast Group and statewide, which were compared with reported rates. We found that there were 620 fewer reported birth defect cases than expected for the Northeast Group. The Northeast Group's prevalence rates were approximately half of the control groups' rates (310.6 vs. 529.8, respectively, for Whites, and 240.8 vs. 550.1, respectively, for African-Americans). Incorporating the missed cases into statewide prevalence calculations could increase prevalence rates from 502.6 to 523.2 for Whites and from 527.4 to 590.7 for African-Americans. This study identified significant regional differences in reported birth defect rates in Arkansas. Case ascertainment might be incomplete in other surveillance systems lacking the means to share data with neighboring systems. Regional inaccuracy can hinder evaluation of localized birth defect trends or targeted prevention efforts. Copyright 2002 Wiley-Liss, Inc.

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

PubMed Central

Ferreira, Flávia Romariz; Russo Akiba, Heloisa Regina; Júnior, Edward Araujo; Figueiredo, Elisabeth Niglio; Abrahão, Anelise Riedel

2015-01-01

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. PMID:26644794

Omphalocele

MedlinePlus

Birth defect - omphalocele; Abdominal wall defect - infant; Abdominal wall defect - neonate; Abdominal wall defect - newborn ... Omphalocele is considered an abdominal wall defect (a hole in the abdominal wall). The child's intestines usually ...

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

PubMed

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.

Association between Prenatal Exposure to Antiretroviral Therapy and Birth Defects: An Analysis of the French Perinatal Cohort Study (ANRS CO1/CO11)

PubMed Central

Sibiude, Jeanne; Mandelbrot, Laurent; Blanche, Stéphane; Le Chenadec, Jérôme; Boullag-Bonnet, Naima; Faye, Albert; Dollfus, Catherine; Tubiana, Roland; Bonnet, Damien; Lelong, Nathalie; Khoshnood, Babak; Warszawski, Josiane

2014-01-01

Background Antiretroviral therapy (ART) has major benefits during pregnancy, both for maternal health and to prevent mother-to-child transmission of HIV. Safety issues, including teratogenic risk, need to be evaluated. We estimated the prevalence of birth defects in children born to HIV-infected women receiving ART during pregnancy, and assessed the independent association of birth defects with each antiretroviral (ARV) drug used. Methods and Findings The French Perinatal Cohort prospectively enrolls HIV-infected women delivering in 90 centers throughout France. Children are followed by pediatricians until 2 y of age according to national guidelines. We included 13,124 live births between 1994 and 2010, among which, 42% (n = 5,388) were exposed to ART in the first trimester of pregnancy. Birth defects were studied using both European Surveillance of Congenital Anomalies (EUROCAT) and Metropolitan Atlanta Congenital Defects Program (MACDP) classifications; associations with ART were evaluated using univariate and multivariate logistic regressions. Correction for multiple comparisons was not performed because the analyses were based on hypotheses emanating from previous findings in the literature and the robustness of the findings of the current study. The prevalence of birth defects was 4.4% (95% CI 4.0%–4.7%), according to the EUROCAT classification. In multivariate analysis adjusting for other ARV drugs, maternal age, geographical origin, intravenous drug use, and type of maternity center, a significant association was found between exposure to zidovudine in the first trimester and congenital heart defects: 2.3% (74/3,267), adjusted odds ratio (AOR) = 2.2 (95% CI 1.3–3.7), p = 0.003, absolute risk difference attributed to zidovudine +1.2% (95% CI +0.5; +1.9%). Didanosine and indinavir were associated with head and neck defects, respectively: 0.5%, AOR = 3.4 (95% CI 1.1–10.4), p = 0.04; 0.9%, AOR = 3.8 (95% CI 1.1–13.8), p = 0.04. We found a significant association between efavirenz and neurological defects (n = 4) using the MACDP classification: AOR = 3.0 (95% CI 1.1–8.5), p = 0.04, absolute risk +0.7% (95% CI +0.07%; +1.3%). But the association was not significant using the less inclusive EUROCAT classification: AOR = 2.1 (95% CI 0.7–5.9), p = 0.16. No association was found between birth defects and lopinavir or ritonavir with a power >85% for an odds ratio of 1.5, nor for nevirapine, tenofovir, stavudine, or abacavir with a power >70%. Limitations of the present study were the absence of data on termination of pregnancy, stillbirths, tobacco and alcohol intake, and concomitant medication. Conclusions We found a specific association between in utero exposure to zidovudine and heart defects; the mechanisms need to be elucidated. The association between efavirenz and neurological defects must be interpreted with caution. For the other drugs not associated with birth defects, the results were reassuring. Finally, whatever the impact that some ARV drugs may have on birth defects, it is surpassed by the major role of ART in the successful prevention of mother-to-child transmission of HIV. Please see later in the article for the Editors' Summary PMID:24781315

Nonsurgical Treatment of Hemifacial Microsomia: A Case Report.

PubMed

Nouri, Mahtab; Farzan, Arash

2015-11-01

Hemifacial microsomia (HFM) is a birth defect involving craniofacial structures derived from the first and second branchial arches. Although it is a relatively uncommon malformation, it is the second most common craniofacial birth defect after cleft lip and palate (CL/P). This is a case report about the successful orthodontic treatment of a patient with mild hemifacial microsomia (HFM), using a non-surgical orthopedic and orthodontic treatment approach. The aim of this approach was to make the best noninvasive modality to treat HFM. A 7-year-old boy with a mild HFM presented with a convex profile and slight chin deviation. Orthopedic treatment performed using a hybrid functional and high pulls headgear. Treatment continued by fixed orthodontic straight wire appliance to achieve perfect occlusion. Excellent esthetic and functional results achieved; total treatment duration was about 72 months.

Estimated Maternal Pesticide Exposure from Drinking Water and Heart Defects in Offspring

PubMed Central

Kim, Jihye; Swartz, Michael D.; Langlois, Peter H.; Romitti, Paul A.; Weyer, Peter; Mitchell, Laura E.; Ramakrishnan, Anushuya; Malik, Sadia; Lupo, Philip J.; Feldkamp, Marcia L.; Meyer, Robert E.; Winston, Jennifer J.; Reefhuis, Jennita; Blossom, Sarah J.; Bell, Erin; Agopian, A. J.

2017-01-01

Our objective was to examine the relationship between estimated maternal exposure to pesticides in public drinking water and the risk of congenital heart defects (CHD). We used mixed-effects logistic regression to analyze data from 18,291 nonsyndromic cases with heart defects from the Texas Birth Defects Registry and 4414 randomly-selected controls delivered in Texas from 1999 through 2005. Water district-level pesticide exposure was estimated by linking each maternal residential address to the corresponding public water supply district’s measured atrazine levels. We repeated analyses among independent subjects from the National Birth Defects Prevention Study (NBDPS) (1620 nonsyndromic cases with heart defects and 1335 controls delivered from 1999 through 2005). No positive associations were observed between high versus low atrazine level and eight CHD subtypes or all included heart defects combined. These findings should be interpreted with caution, in light of potential misclassification and relatively large proportions of subjects with missing atrazine data. Thus, more consistent and complete monitoring and reporting of drinking water contaminants will aid in better understanding the relationships between pesticide water contaminants and birth defects. PMID:28786932

Estimated Maternal Pesticide Exposure from Drinking Water and Heart Defects in Offspring.

PubMed

Kim, Jihye; Swartz, Michael D; Langlois, Peter H; Romitti, Paul A; Weyer, Peter; Mitchell, Laura E; Luben, Thomas J; Ramakrishnan, Anushuya; Malik, Sadia; Lupo, Philip J; Feldkamp, Marcia L; Meyer, Robert E; Winston, Jennifer J; Reefhuis, Jennita; Blossom, Sarah J; Bell, Erin; Agopian, A J

2017-08-08

Our objective was to examine the relationship between estimated maternal exposure to pesticides in public drinking water and the risk of congenital heart defects (CHD). We used mixed-effects logistic regression to analyze data from 18,291 nonsyndromic cases with heart defects from the Texas Birth Defects Registry and 4414 randomly-selected controls delivered in Texas from 1999 through 2005. Water district-level pesticide exposure was estimated by linking each maternal residential address to the corresponding public water supply district's measured atrazine levels. We repeated analyses among independent subjects from the National Birth Defects Prevention Study (NBDPS) (1620 nonsyndromic cases with heart defects and 1335 controls delivered from 1999 through 2005). No positive associations were observed between high versus low atrazine level and eight CHD subtypes or all included heart defects combined. These findings should be interpreted with caution, in light of potential misclassification and relatively large proportions of subjects with missing atrazine data. Thus, more consistent and complete monitoring and reporting of drinking water contaminants will aid in better understanding the relationships between pesticide water contaminants and birth defects.

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

PubMed

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.

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

PubMed Central

Heeren, Gudrun A; Tyler, Joanne; Mandeya, Andrew

2003-01-01

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 children of rural South African women who work on the land. Education programmes for women alerting them to the dangers to their babies from the use of pesticides and alternative farming methods and elimination of the reuse of pesticide containers are indicated as preventive measures. PMID:14613490

Limb reduction defects in the northern region of England 1985-92.

PubMed Central

Wright, M J; Newell, J N; Charlton, M E; Hey, E N; Donaldson, L J; Burn, J

1995-01-01

STUDY OBJECTIVE--To test the hypothesis that children born to mothers living near the sea are at increased risk of limb reduction defects. DESIGN--Descriptive data analysis. SETTING--The northern health region of England. PATIENTS--All children born between 1 January 1985 and 31 December 1992 in the northern region of England with isolated limb reduction defects. MAIN RESULTS--The birth prevalence of isolated limb reduction defects was not affected by the distance the mother lived from the sea. There was some evidence of space-time clustering, but there was no evidence of statistically significant variation in the occurrence of the condition with sex, time of birth (monthly or yearly), or county of birth. CONCLUSIONS--There is no evidence that children born to mothers living near the sea are at increased risk of limb reduction defects. PMID:7629469

Birth Defects in Gaza: Prevalence, Types, Familiarity and Correlation with Environmental Factors

PubMed Central

Naim, Awny; Al Dalies, Hedaya; El Balawi, Mohammed; Salem, Eman; Al Meziny, Kholud; Al Shawwa, Raneem; Minutolo, Roberto; Manduca, Paola

2012-01-01

This is the first report of registration at birth, and of incidence of major structural birth defects (BD) obtained in Gaza at Al Shifa Hospital, where 28% of total births in Gaza Strip occur. Doctors registered 4,027 deliveries, with a protocol comprehensive of clinical, demographic, kin and environmental questions. Prevalence of BD is 14/1,000, without association with intermarriage or gender of the child. Prevalence of late miscarriages and still births are respectively 23.3/1,000 and 7.4/1,000, and of premature births 19.6/1,000. Couples with a BD child have about 10 times higher frequency of recurrence of a BD in their progeny than those with normal children, but none of their 694 siblings and only 10/1,000 of their 1,423 progeny had BD, similar to the frequency in general population. These data suggest occurrence of novel genetic and epigenetic events in determination of BD. Children with BD were born with higher frequency (p < 0 001) in families where one or both parents were under “white phosphorus” attack, that in the general population. Bombing of the family home and removal of the rubble were also frequently reported by couples with BD occurrence. These data suggests a causative/favoring role of acute exposure of parents to the weapons-associated contaminants, and/or of their chronic exposure from their persistence in the environment on the embryonic development of their children. PMID:22754469

The effects of opt-out legislation on data collection and surveillance of birth defects by the New Hampshire Birth Conditions Program, New Hampshire, United States, 2007-2009.

PubMed

Gill, Simerpal; Miller, Stephanie; Broussard, Cheryl; Reefhuis, Jennita

2012-01-01

The New Hampshire Birth Conditions Program (NHBCP) is a population-based, active case ascertainment surveillance system that monitors the occurrence of 45 birth defects across the state. A 2008 law requires a new opt-out procedure whereby legal guardians can choose whether or not to have identifiable information retained in the NHBCP database. The purpose of this study was to determine the effects of implementing this opt-out legislation on data collection and surveillance of birth defects by the NHBCP. Using surveillance data collected following implementation of the opt out legislation for the period January 1, 2007, through December 31, 2009, 2 opt-out groups were created: the identifiable information retained (IIR) group, consisting of families who did not choose to opt out, and the de-identified information retained group (DIIR), consisting of those who either chose to opt out or were treated as opt-out birth defect cases because their opt-out package was undeliverable. Descriptive statistics were calculated for each group, and chi-square or Fisher's exact tests were used to compare the proportion of select sociodemographic and medical characteristics between the 2 opt-out groups. Of 776 infants, 120 (15.5%) fell into the DIIR group. Differences were observed by race/ethnicity (among non-Hispanic whites, 15% were in the DIIR group and among Hispanics, 33% were in the DIIR group; p=0.01) and by maternal age (among women 30-34 years of age, 11% were in the DIIR group, and among those 25 years of age or younger, 22% were in the DIIR group; p=0.05). Birth outcomes, payer source, county of residence, and common birth defect diagnoses did not differ between the opt-out groups. This study demonstrated that there were significant differences in race/ethnicity and maternal age between parents who had de-identified information included in the NHBCP compared with those who did not choose to opt out. Although the surveillance of birth defects is not affected, the opportunities for certain types of research will be limited.

78 FR 6329 - Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): Initial Review

Federal Register 2010, 2011, 2012, 2013, 2014

2013-01-30

... announced below concerns Birth Defects Study to Evaluate Pregnancy exposureS (BD-STEPS), FOA DD13-003... evaluation of applications received in response to ``Birth Defects Study to Evaluate Pregnancy exposureS (BD...

Antihistamines and birth defects: a systematic review of the literature.

PubMed

Gilboa, Suzanne M; Ailes, Elizabeth C; Rai, Ramona P; Anderson, Jaynia A; Honein, Margaret A

2014-12-01

Approximately 10 - 15% of women reportedly take an antihistamine during pregnancy for the relief of nausea and vomiting, allergy and asthma symptoms, or indigestion. Antihistamines include histamine H1-receptor and H2-receptor antagonists. This is a systematic evaluation of the peer-reviewed epidemiologic literature published through February 2014 on the association between prenatal exposure to antihistamines and birth defects. Papers addressing histamine H1- or H2-receptor antagonists are included. Papers addressing pyridoxine plus doxylamine (Bendectin in the United States, Debendox in the United Kingdom, Diclectin in Canada, Lenotan and Merbental in other countries) prior to the year 2001 were excluded post hoc because of several previously published meta-analyses and commentaries on this medication. The literature on the safety of antihistamine use during pregnancy with respect to birth defects is generally reassuring though the positive findings from a few large studies warrant corroboration in other populations. The findings in the literature are considered in light of three critical methodological issues: i) selection of appropriate study population; ii) ascertainment of antihistamine exposures; and iii) ascertainment of birth defect outcomes. Selected antihistamines have been very well studied (e.g., loratadine); others, especially H2-receptor antagonists, require additional study before an assessment of safety with respect to birth defect risk could be made.

Tetralogy of Fallot

MedlinePlus

Tet; TOF; Congenital heart defect - tetralogy; Cyanotic heart disease - tetralogy; Birth defect - tetralogy ... The classic form includes four defects of the heart and its major blood vessels: Ventricular septal defect ( ...

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

EPA Science Inventory

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

Wheat agriculture in Mi...

Factors associated with high hospital resource use in a population-based study of children with orofacial clefts

PubMed Central

Razzaghi, Hilda; Dawson, April; Grosse, Scott D.; Allori, Alexander C.; Kirby, Russell S.; Olney, Richard S.; Correia, Jane; Cassell, Cynthia H.

2015-01-01

Background Little is known about population-based maternal, child, and system characteristics associated with high hospital resource use for children with orofacial clefts (OFC) in the US. Methods This was a statewide, population-based, retrospective observational study of children with OFC born between 1998 and 2006, identified by the Florida Birth Defects Registry whose records were linked with longitudinal hospital discharge records. We stratified the descriptive results by cleft type [cleft lip with cleft palate (CLP), cleft lip (CL) and cleft palate (CP)] and by isolated vs. non-isolated OFC (accompanied by other coded major birth defects). We used Poisson regression to analyze associations between selected characteristics and high hospital resource use (≥90th percentile of estimated hospitalized days and inpatient costs) for birth, post-birth, and total hospitalizations initiated before age two years. Results Our analysis included 2,129 children with OFC. Infants who were born low birth weight (<2500 grams) were significantly more likely to have high birth hospitalization costs for CLP [adjusted prevalence ratio (aPR): 1.6 (95% confidence interval (CI): 1.0–2.7)], CL [aPR: 3.0 (95% CI: 1.1–8.1)], and CP [aPR: 2.3 (95% CI: 1.3–4.0)]. Presence of multiple birth defects was significantly associated with a three- to eleven-fold and a three- to nine-fold increase in the prevalence of high costs and number of hospitalized days, respectively; at birth, post-birth before age two years and overall hospitalizations. Conclusion Children with CP had the greatest hospital resources use. Additionally, the presence of multiple birth defects contributed to greater inpatient days and costs for children with OFC. PMID:25721952

Bendectin and birth defects: I. A meta-analysis of the epidemiologic studies.

PubMed

McKeigue, P M; Lamm, S H; Linn, S; Kutcher, J S

1994-07-01

"Bendectin" (Doxylamine/Dicyclomine/Pyridoxine) was widely used for the treatment of nausea and vomiting of pregnancy until 1983, when production was discontinued in the face of lawsuits alleging that the drug caused congenital malformations. We have conducted a meta-analysis of the 16 cohort and 11 case-control studies that report birth defects from Bendectin-exposed pregnancies. This meta-analysis provides an estimate of the relative risk of malformation at birth in association with Bendectin exposure. The pooled estimate of the relative risk of any malformation at birth in association with exposure to Bendectin in the first trimester was 0.95 (95% Cl 0.88 to 1.04). Separate analyses were undertaken for cardiac defects, central nervous system defects, neural tube defects, limb reductions, oral clefts, and genital tract malformations. In these categories, the pooled estimates of relative risk ranged from 0.81 for oral clefts to 1.11 for limb reductions, with all 95% confidence intervals enclosing unity. With the exception of studies for oral clefts and for pyloric stenosis, tests for heterogeneity of association indicated for each table that all studies were estimating the same odds ratio. These studies, as a group, showed no difference in the risk of birth defects between those infants whose mothers had taken Bendectin during the first trimester of pregnancy and those infants whose mothers had not. It is unlikely that Bendectin exposure contributed to the prevalence of congenital malformations in the population.

The Implications of Parental Consanguinity on the Care of Neonates.

PubMed

Ng, Diana

2016-08-01

Approximately 6% of births worldwide, 7.9 million children, are born with a serious genetic congenital abnormality each year. A factor thought to increase the prevalence of birth defects is parental consanguinity, which is a social custom practiced in at least 20% of the world's population. The purpose of this article is to explore the relationship between consanguinity and congenital defects. This article also aims to enhance neonatal healthcare practitioners' comprehension of its implications for practice and research. A review of literature was compiled from a search of the online databases Cumulative Index of Nursing and Allied Health (CINAHL), PubMed, EBSCO MegaFILE, and Google Scholar. Literature pertinent to this topic primarily consists of research studies that examine the inbreeding depression phenomenon through comparison of the prevalence of birth defects among the offspring of consanguineous and nonconsanguineous couples. Current studies indicate that the progeny of consanguineous couples are at an increased risk of congenital defects compared with those of nonconsanguineous couples. Consanguinity is one risk factor among many that can lead to a major birth defect. Relationships between consanguineous populations and neonatal healthcare practitioners such as registered nurses, advanced practice nurses, and physicians could significantly alter neonatal health outcomes. Specific recommendations such as genetic counseling and therapeutic communication are discussed. Further studies need to investigate the connection between consanguinity and birth defects while controlling for nongenetic variables. Moreover, a focus on consanguineous communities in the United States would prove beneficial.

Congenital diaphragmatic hernias: from genes to mechanisms to therapies

PubMed Central

McCulley, David J.; Shen, Yufeng; Wynn, Julia; Shang, Linshan; Bogenschutz, Eric; Sun, Xin

2017-01-01

ABSTRACT Congenital diaphragmatic hernias (CDHs) and structural anomalies of the diaphragm are a common class of congenital birth defects that are associated with significant morbidity and mortality due to associated pulmonary hypoplasia, pulmonary hypertension and heart failure. In ∼30% of CDH patients, genomic analyses have identified a range of genetic defects, including chromosomal anomalies, copy number variants and sequence variants. The affected genes identified in CDH patients include transcription factors, such as GATA4, ZFPM2, NR2F2 and WT1, and signaling pathway components, including members of the retinoic acid pathway. Mutations in these genes affect diaphragm development and can have pleiotropic effects on pulmonary and cardiac development. New therapies, including fetal endoscopic tracheal occlusion and prenatal transplacental fetal treatments, aim to normalize lung development and pulmonary vascular tone to prevent and treat lung hypoplasia and pulmonary hypertension, respectively. Studies of the association between particular genetic mutations and clinical outcomes should allow us to better understand the origin of this birth defect and to improve our ability to predict and identify patients most likely to benefit from specialized treatment strategies. PMID:28768736

Maternal exposures in the National Birth Defects Prevention Study: time trends of selected exposures

PubMed Central

Dawson, April L.; Razzaghi, Hilda; Arth, Annelise; Canfield, Mark A.; Parker, Samantha E.; Reefhuis, Jennita

2015-01-01

Background Our objective was to describe time trends in selected pregnancy exposures in the National Birth Defects Prevention Study (NBDPS). Methods We analyzed data from the NBDPS, a multi-site case-control study of major birth defects, for mothers of live-born infants without birth defects (controls), with an expected date of delivery (EDD) from 1998 –2011. Mothers from the 10 participating centers across the United States were interviewed by phone between six weeks and two years after the EDD. We focused on maternal race/ethnicity and five maternal risk factors: obesity, use of folic acid-containing multivitamins, opioid analgesics, selective serotonin reuptake inhibitors (SSRIs), and loratadine because of their prevalence of use and some reports of associations with major birth defects. Prevalence time trends were examined using the Kendall’s τβ test statistic. Results The exposure trend analysis included 11,724 control mothers with EDDs from 1998–2011. We observed a significant increase in obesity prevalence among control mothers, as well as use of SSRIs and loratadine. We also observed an increase in periconceptional use of folic acid-containing multivitamins. Some of the time trends varied by race/ethnicity. No remarkable trend in the overall use of opioid analgesics was observed. The racial/ethnic distribution of mothers changed slightly during the study period. Conclusions Long-term, population-based case-control studies continue to be an effective way to assess exposure-birth defects associations and provide guidance to health care providers. However, investigators examining rare outcomes covering many years of data collection need to be cognizant of time trends in exposures. PMID:25884728

Maternal exposures in the National Birth Defects Prevention Study: Time trends of selected exposures.

PubMed

Dawson, April L; Razzaghi, Hilda; Arth, Annelise; Canfield, Mark A; Parker, Samantha E; Reefhuis, Jennita

2015-08-01

Our objective was to describe time trends in selected pregnancy exposures in the National Birth Defects Prevention Study (NBDPS). We analyzed data from the NBDPS, a multi-site case-control study of major birth defects, for mothers of live-born infants without birth defects (controls), with an expected date of delivery (EDD) from 1998 to 2011. Mothers from the 10 participating centers across the United States were interviewed by phone between 6 weeks and 2 years after the EDD. We focused on maternal race/ethnicity and five maternal risk factors: obesity, use of folic acid-containing multivitamins, opioid analgesics, selective serotonin reuptake inhibitors, and loratadine because of their prevalence of use and some reports of associations with major birth defects. Prevalence time trends were examined using the Kendall's τβ test statistic. The exposure trend analysis included 11,724 control mothers with EDDs from 1998 to 2011. We observed a significant increase in obesity prevalence among control mothers, as well as use of selective serotonin reuptake inhibitors and loratadine. We also observed an increase in periconceptional use of folic acid-containing multivitamins. Some of the time trends varied by race/ethnicity. No remarkable trend in the overall use of opioid analgesics was observed. The racial/ethnic distribution of mothers changed slightly during the study period. Long-term, population-based case-control studies continue to be an effective way to assess exposure-birth defects associations and provide guidance to health care providers. However, investigators examining rare outcomes covering many years of data collection need to be cognizant of time trends in exposures. © 2015 Wiley Periodicals, Inc.

Is Bendectin a teratogen?

PubMed

Cordero, J F; Oakley, G P; Greenberg, F; James, L M

1981-06-12

We studied the first-trimester exposure to Bendectin for several major categories of birth defects among infants ascertained through the Metropolitan Atlanta Congenital Defects Program from 1968 to 1978. No associations were found between any of these defect categories and Bendectin exposure. An association, however, was found for the amniotic bands cases--a subgroup of limb reductions. We stratified our data to reflect the 1976 change in formulation when one of the three ingredients was removed. An association was found between esophageal atresia and the three-ingredient product and another between encephalocele and the two ingredient product. These statistical associations do not establish a causal relationship between Bendectin and the birth defects we studied. Furthermore, even if the associations are causal, the implied risk is extremely low, approximately one in 1,000 births.

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

PubMed

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.

Complementary role of magnetic resonance imaging in the study of the fetal urinary system.

PubMed

Gómez Huertas, M; Culiañez Casas, M; Molina García, F S; Carrillo Badillo, M P; Pastor Pons, E

2016-01-01

Urinary system birth defects represent the abnormality most often detected in prenatal studies, accounting for 30% to 50% of all structural anomalies present at birth. The most common disorders are urinary tract dilation, developmental variants, cystic kidney diseases, kidney tumors, and bladder defects. These anomalies can present in isolation or in association with various syndromes. They are normally evaluated with sonography, and the use of magnetic resonance imaging (MRI) is considered only in inconclusive cases. In this article, we show the potential of fetal MRI as a technique to complement sonography in the study of fetal urinary system anomalies. We show the additional information that MRI can provide in each entity, especially in the evaluation of kidney function through diffusion-weighted sequences. Copyright © 2016 SERAM. Published by Elsevier España, S.L.U. All rights reserved.

Neural Tube Defects

MedlinePlus

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 ...

Hypoxia and the Edema Syndrome: Elucidation of a Mechanism of Teratogenesis

EPA Science Inventory

The elucidation of mechanisms and pathogenesis of birth defects is exceedingly complex. Consequently, there are few examples where the etiology of birth defects caused by a specific agent has been well described. One such example is the "Edema Syndrome" first described by Casimer...

BIRTH DEFECTS RISK ASSOCIATED WITH MATERNAL SPORT FISH CONSUMPTION: POTENTIAL EFFECT MODIFICATION BY SEX OF OFFSPRING

EPA Science Inventory

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 infa...

Factors affecting maternal participation in the genetic component of the National Birth Defects Prevention Study-United States, 1997-2007.

PubMed

Glidewell, Jill; Reefhuis, Jennita; Rasmussen, Sonja A; Woomert, Alison; Hobbs, Charlotte; Romitti, Paul A; Crider, Krista S

2014-04-01

As epidemiological studies expand to examine gene-environment interaction effects, it is important to identify factors associated with participation in genetic studies. The National Birth Defects Prevention Study is a multisite case-control study designed to investigate environmental and genetic risk factors for major birth defects. The National Birth Defects Prevention Study includes maternal telephone interviews and mailed buccal cell self-collection kits. Because subjects can participate in the interview, independent of buccal cell collection, detailed analysis of factors associated with participation in buccal cell collection was possible. Multivariable logistic regression models were used to identify the factors associated with participation in the genetic component of the study. Buccal cell participation rates varied by race/ethnicity (non-Hispanic whites, 66.9%; Hispanics, 60.4%; and non-Hispanic blacks, 47.3%) and study site (50.2-74.2%). Additional monetary incentive following return of buccal cell kit and shorter interval between infant's estimated date of delivery and interview were associated with increased participation across all racial/ethnic groups. Higher education and delivering an infant with a birth defect were associated with increased participation among non-Hispanic whites and Hispanics. Factors associated with participation varied by race/ethnicity. Improved understanding of factors associated with participation may facilitate strategies to increase participation, thereby improving generalizability of study findings.

Antihistamines and Birth Defects: A Systematic Review of the Literature

PubMed Central

Gilboa, Suzanne M.; Ailes, Elizabeth C.; Rai, Ramona P.; Anderson, Jaynia A.; Honein, Margaret A.

2015-01-01

Introduction Approximately 10-15% of women reportedly take an antihistamine during pregnancy for the relief of nausea and vomiting, allergy and asthma symptoms, or indigestion. Antihistamines include histamine H1-receptor and H2-receptor antagonists. Areas covered This is a systematic evaluation of the peer-reviewed epidemiologic literature published through February 2014 on the association between prenatal exposure to antihistamines and birth defects. Papers addressing histamine H1- or H2-receptor antagonists are included. Papers addressing pyridoxine plus doxylamine (Bendectin in the United States, Debendox in the United Kingdom, Diclectin in Canada, Lenotan and Merbental in other countries) prior to the year 2001 were excluded post-hoc because of several previously published meta-analyses and commentaries on this medication. Expert opinion The literature on the safety of antihistamine use during pregnancy with respect to birth defects is generally reassuring though the positive findings from a few large studies warrant corroboration in other populations. The findings in the literature are considered in light of three critical methodological issues: (1) selection of appropriate study population; (2) ascertainment of antihistamine exposures; and (3) ascertainment of birth defects outcomes. Selected antihistamines have been very well-studied (e.g. loratadine); others, especially H2- receptor antagonists, require additional study before an assessment of safety with respect to birth defects risk could be made. PMID:25307228

Dextrocardia

MedlinePlus

Cyanotic heart defect - dextrocardia; Congenital heart defect - dextrocardia; Birth defect - dextrocardia ... During the early weeks of pregnancy, the baby’s heart develops. Sometimes, it turns so that it points ...

Birth Defects Data and Statistics

MedlinePlus

... Septal Defect Atrioventricular Septal Defect Coarctation of the Aorta D-Transposition of the Great Arteries Hypoplastic Left ... Syndrome Disorders Gastroschisis Heart Defects Coarctation of the Aorta Hypoplastic left heart syndrome Tetralogy of Fallot Other ...

77 FR 24960 - Agency Forms Undergoing Paperwork Reduction Act Review

Federal Register 2010, 2011, 2012, 2013, 2014

2012-04-26

... DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention [30Day-12-0010... Description CDC has been monitoring the occurrence of serious birth defects and genetic diseases in Atlanta... early warning system for new teratogens. In 1997, the Birth Defects Risk Factor Surveillance (BDRFS...

COMPARISON OF GEOCODING METHODS USED IN CASE-CONTROL STUDY OF AIR QUALITY AND BIRTH DEFECTS

EPA Science Inventory

Introduction: Accurate geocoding of maternal residence is critical to the success of an ongoing case-control study of exposure to five criteria air pollutants and the risk of selected birth defects in seven Texas counties between 1997 and 2000. The geocoded maternal residence a...

Can Computational Models Be Used to Assess the Developmental Toxicity of Environmental Exposures?

EPA Science Inventory

Environmental causes of birth defects include maternal exposure to drugs, chemicals, or physical agents. Environmental factors account for an estimated 3–7% of birth defects although a broader contribution is likely based on the mother’s general health status and genetic blueprin...

Maternal caffeine intake and risk of selected birth defects in the National Birth Defects Prevention Study.

PubMed

Browne, Marilyn L; Hoyt, Adrienne T; Feldkamp, Marcia L; Rasmussen, Sonja A; Marshall, Elizabeth G; Druschel, Charlotte M; Romitti, Paul A

2011-02-01

Caffeine intake is common during pregnancy, yet few epidemiologic studies have examined the association between maternal caffeine consumption and birth defects. Using data from the National Birth Defects Prevention Study (NBDPS), we examined the association between maternal caffeine consumption and anotia/microtia, esophageal atresia, small intestinal atresia, craniosynostosis, diaphragmatic hernia, omphalocele, and gastroschisis. The NBDPS is a multi-site population-based case-control study. The present analysis included 3,346 case infants and 6,642 control infants born from October 1997 through December 2005. Maternal telephone interview reports of demographic characteristics and conditions and exposures before and during pregnancy were collected. Odds ratios and 95% confidence intervals, adjusted for relevant covariates, were calculated to estimate the associations between maternal dietary caffeine intake (coffee, tea, soda, and chocolate) and maternal use of caffeine-containing medications and each defect. We observed small, statistically significant elevations in adjusted odds ratios ranging from 1.3 to 1.8 for total maternal dietary caffeine intake or specific types of caffeinated beverages and anotia/microtia, esophageal atresia, small intestinal atresia, and craniosynostosis; however, dose-response patterns were absent. Periconceptional use of caffeine-containing medications was infrequent and estimates were imprecise. We did not find convincing evidence of an association between maternal caffeine intake and the birth defects included in this study. The increasing popularity of caffeine-containing energy drinks and other caffeinated products may result in higher caffeine intake among women of childbearing age. Future studies should consider more detailed evaluation of such products. Copyright © 2010 Wiley-Liss, Inc.

Maternal occupation and the risk of major birth defects: A follow-up analysis from the National Birth Defects Prevention Study

PubMed Central

Lin, Shao; Herdt-Losavio, Michele L.; Chapman, Bonnie R.; Munsie, Jean-Pierre; Olshan, Andrew F.; Druschel, Charlotte M.

2013-01-01

This study further examined the association between selected maternal occupations and a variety of birth defects identified from prior analysis and explored the effect of work hours and number of jobs held and potential interaction between folic acid and occupation. Data from a population-based, multi-center case-control study was used. Analyses included 45 major defects and specific sub-occupations under five occupational groups: healthcare workers, cleaners, scientists, teachers and personal service workers. Both logistic regression and Bayesian models (to minimize type-1 errors) were used, adjusted for potential confounders. Effect modification by folic acid was also assessed. More than any other occupation, nine different defects were positively associated with maids or janitors [odds ratio (OR) range: 1.72-3.99]. Positive associations were also seen between the following maternal occupations and defects in their children (OR range: 1.35-3.48): chemists/conotruncal heart and neural tube defects (NTDs), engineers/conotruncal defects, preschool teachers/cataracts and cleft lip with/without cleft palate (CL/P), entertainers/athletes/gastroschisis, and nurses/hydrocephalus and left ventricular outflow tract heart defects. Non-preschool teachers had significantly lower odds of oral clefts and gastroschisis in their offspring (OR range: 0.53-0.76). There was a suggestion that maternal folic acid use modified the effects with occupations including lowering the risk of NTDs and CL/P. No consistent patterns were found between maternal work hours or multiple jobs by occupation and the risk of birth defects. Overall, mothers working as maids, janitors, biologists, chemists, engineers, nurses, entertainers, child care workers and preschool teachers had increased risks of several malformations and non-preschool teachers had a lower risk of some defects. Maternal folic acid use reduced the odds of NTDs and CL/P among those with certain occupations. This hypothesis-generating study will provide clues for future studies with better exposure data. PMID:22695106

CASE-CONTROL STUDY OF AIR QUALITY AND BIRTH DEFECTS: COMPARISON OF GEOCODED AND NON-GEOCODED POPULATIONS

EPA Science Inventory

Unbiased geocoding of maternal residence is critical to the success of an ongoing case-control study of exposure to five criteria air pollutants and the risk of selected birth defects in seven Texas counties between 1997 and 2000. The geocoded residence at delivery will be used ...

38 CFR 17.903 - Payment.

Code of Federal Regulations, 2010 CFR

2010-07-01

... Benefits for Certain Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects § 17.903 Payment... the date the child was determined eligible for benefits under § 3.814 of this title. (ii) For covered birth defects, on or after December 1, 2001, and must have occurred on or after the date the child was...

38 CFR 21.8012 - Vocational training program for certain children of Vietnam veterans-spina bifida and covered...

Code of Federal Regulations, 2010 CFR

2010-07-01

... program for certain children of Vietnam veterans-spina bifida and covered birth defects. 21.8012 Section... REHABILITATION AND EDUCATION Vocational Training and Rehabilitation for Certain Children of Vietnam Veterans... children of Vietnam veterans—spina bifida and covered birth defects. VA will provide an evaluation to an...

RELIANCE ON GEOCODED MATERNAL RESIDENCE: IMPACT ON A POPULATION-BASED CASE-CONTROL STUDY OF AIR QUALITY AND BIRTH DEFECTS

EPA Science Inventory

Introduction: Unbiased geocoding of maternal residence is critical to the success of an ongoing population-based case-control study of exposure to five criteria air pollutants and the risk of selected birth defects in seven Texas counties between 1997 and 2000. The geocoded res...

A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence

PubMed Central

Wolf, Zena T.; Leslie, Elizabeth J.; Arzi, Boaz; Jayashankar, Kartika; Karmi, Nili; Jia, Zhonglin; Rowland, Douglas J.; Young, Amy; Safra, Noa; Sliskovic, Saundra; Murray, Jeffrey C.; Wade, Claire M.; Bannasch, Danika L.

2014-01-01

Cleft palate (CP) is one of the most commonly occurring craniofacial birth defects in humans. In order to study cleft palate in a naturally occurring model system, we utilized the Nova Scotia Duck Tolling Retriever (NSDTR) dog breed. Micro-computed tomography analysis of CP NSDTR craniofacial structures revealed that these dogs exhibit defects similar to those observed in a recognizable subgroup of humans with CP: Pierre Robin Sequence (PRS). We refer to this phenotype in NSDTRs as CP1. Individuals with PRS have a triad of birth defects: shortened mandible, posteriorly placed tongue, and cleft palate. A genome-wide association study in 14 CP NSDTRs and 72 unaffected NSDTRs identified a significantly associated region on canine chromosome 14 (24.2 Mb–29.3 Mb; praw = 4.64×10−15). Sequencing of two regional candidate homeobox genes in NSDTRs, distal-less homeobox 5 (DLX5) and distal-less homeobox 6 (DLX6), identified a 2.1 kb LINE-1 insertion within DLX6 in CP1 NSDTRs. The LINE-1 insertion is predicted to insert a premature stop codon within the homeodomain of DLX6. This prompted the sequencing of DLX5 and DLX6 in a human cohort with CP, where a missense mutation within the highly conserved DLX5 homeobox of a patient with PRS was identified. This suggests the involvement of DLX5 in the development of PRS. These results demonstrate the power of the canine animal model as a genetically tractable approach to understanding naturally occurring craniofacial birth defects in humans. PMID:24699068

FastStats: Multiple Births

MedlinePlus

... Accidents or Unintentional Injuries All Injuries Assault or Homicide Suicide and Self-Inflicted Injury Life Stages and Populations Age Groups Adolescent Health Child Health Infant Health Older Persons’ Health Births Birth Defects or ...

Antithyroid Drug Side Effects in the Population and in Pregnancy.

PubMed

Andersen, Stine Linding; Olsen, Jørn; Laurberg, Peter

2016-04-01

Methimazole (MMI) and propylthiouracil (PTU) are both associated with birth defects and may also rarely be associated with agranulocytosis and liver failure. The frequency of these side effects when antithyroid drugs (ATDs) are used in the population in general or in pregnancy remains to be elucidated. All individuals registered as the parent of a live-born child in Denmark, 1973–2008, were identified (n = 2 299 952) and studied from 1995 through 2010 for the use of ATDs. Outcomes were agranulocytosis, liver failure, and birth defects in their offspring. To evaluate the frequency of these side effects associated with the use of ATDs in pregnancy, all live-born pregnancies (n = 830 680), 1996–2008, were identified in a subanalysis. In the population studied, 28 998 individuals redeemed prescriptions of ATDs (exposure in 2115 pregnancies), which was associated with 45 cases of agranulocytosis (one in pregnancy) and 10 cases of liver failure (one in pregnancy). This corresponded to 41 and 11 cases of agranulocytosis and liver failure per 5 million inhabitants during a 10-year period (agranulocytosis: 0.16% of ATDs exposed [MMI: 0.11% vs PTU: 0.27%, P = .02]; liver failure: 0.03% of ATDs exposed [MMI: 0.03% vs PTU: 0.05%, P = .4]). The majority (83%) developed the side effect within 3 months of ATD treatment and 25% during hyperthyroidism relapse. The use of ATDs in pregnancy was associated with birth defects in 3.4% of exposed children (44 cases per 5 million inhabitants per 10 y), and the frequency of birth defects after ATD exposure was 75 times higher than both maternal agranulocytosis and liver failure in pregnancy. In the Danish population in general, ATDs associated birth defects and agranulocytosis had similar frequencies and were more common than liver failure, whereas for the use of ATDs in pregnancy, birth defects were dominant. The burden of side effects to the use of ATDs can be reduced by restricting the use of ATDs in early pregnancy.

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

PubMed

Salemi, Jason L; Hauser, Kimberlea W; Tanner, Jean Paul; Sampat, Diana; Correia, Jane A; Watkins, Sharon M; Kirby, Russell S

2010-01-01

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

Medications Used to Treat Nausea and Vomiting of Pregnancy and the Risk of Selected Birth Defects

PubMed Central

Anderka, Marlene; Mitchell, Allen A.; Louik, Carol; Werler, Martha M.; Hernández-Diaz, Sonia; Rasmussen, Sonja A.

2012-01-01

Background Nausea and vomiting of pregnancy (NVP) occurs in up to 80% of pregnant women, yet its association with birth outcomes is not clear. Several medications are used for the treatment of NVP; however, data are limited on their possible associations with birth defects. Methods Using data from the National Birth Defects Prevention Study (NBDPS), a multi-site population-based case-control study, we examined whether NVP or its treatment was associated with the most common non-cardiac defects in the NBDPS (non-syndromic cleft lip with or without cleft palate (CL/P), cleft palate alone (CP), neural tube defects (NTDs), and hypospadias) compared to randomly-selected non-malformed live births. Results Among the 4524 cases and 5859 controls included in this study, 67.1% reported first trimester NVP, and 15.4% of them reported using at least one agent for NVP. Nausea and vomiting of pregnancy was not associated with CP or NTDs, but modest risk reductions were observed for CL/P (aOR=0.87, 0.77–0.98), and hypospadias (OR=0.84, 0.72–0.98). In regards to treatments for NVP in the first trimester, the following adjusted associations were observed with an increased risk: proton pump inhibitors and hypospadias (aOR=4.36, 1.21–15.81), steroids and hypospadias (aOR=2.87, 1.03–7.97), and ondansetron and CP (aOR=2.37, 1.18–4.76), while antacids were associated with a reduced risk for CL/P (aOR=0.58, 0.38–0.89). Conclusions Nausea and vomiting of pregnancy was not observed to be associated with an increased risk of birth defects, but possible risks related to three treatments (i.e. proton pump inhibitors, steroids and ondansetron), which could be chance findings, warrant further investigation. PMID:22102545

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.

PubMed

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.

Congenital abnormalities in newborns of women with pregestational diabetes: A time-trend analysis, 1994 to 2009.

PubMed

Agha, Mohammad M; Glazier, Richard H; Moineddin, Rahim; Booth, Gillian

2016-10-01

The main objective of the current study is to examine the trend of congenital abnormalities among children born by women with and without diabetes, and to explore the impact of food fortification by folic acid on the rate of birth defects among these two groups of mothers. All children born alive in Ontario, Canada, during 1994 to 2009 and their mothers were included in study. Diagnosis of pregestational diabetes among mothers was identified using Diabetes registry, and diagnosis of birth defects among children were identified using hospital records. The prevalence of births among diabetic mothers increased by almost 200% during the study period. Among children born to mothers with diabetes, the prevalence for all anomalies combined was approximately 47% higher and for various cardiac and central nervous system anomalies up to a three- to fivefold higher than those born to nondiabetic mothers. While the rate of birth defects in both groups observed a considerable decline after food fortification in 1999, but the gap between two groups remained unchanged over time. While the prevalence of birth defects among diabetic pregnancies is still considerably higher that nondiabetic pregnancies, results of the current study indicate a declining trend in the prevalence of some congenital abnormalities among babies born to both diabetic and nondiabetic mothers after 1999. We need to be more aggressive in implementing preventive measures, including a national diabetes plan or the proposed universal policy of supra-dietary folic acid supplementation for women with diabetes who are of reproductive age. Birth Defects Research (Part A) 106:831-839, 2016. © 2016 Wiley Periodicals, Inc. © 2016 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

PubMed Central

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

Betaine supplementation reduces congenital defects after prenatal alcohol exposure (Conference Presentation)

NASA Astrophysics Data System (ADS)

Karunamuni, Ganga; Gu, Shi; Doughman, Yong Qiu; Sheehan, Megan M.; Ma, Pei; Peterson, Lindsy M.; Linask, Kersti K.; Jenkins, Michael W.; Rollins, Andrew M.; Watanabe, Michiko

2016-03-01

Over 500,000 women per year in the United States drink during pregnancy, and 1 in 5 of this population also binge drink. As high as 20-50% of live-born children with prenatal alcohol exposure (PAE) present with congenital heart defects including outflow and valvuloseptal anomalies that can be life-threatening. Previously we established a model of PAE (modeling a single binge drinking episode) in the avian embryo and used optical coherence tomography (OCT) imaging to assay early-stage cardiac function/structure and late-stage cardiac defects. At early stages, alcohol/ethanol-exposed embryos had smaller cardiac cushions and increased retrograde flow. At late stages, they presented with gross morphological defects in the head and chest wall, and also exhibited smaller or abnormal atrio-ventricular (AV) valves, thinner interventricular septae (IVS), and smaller vessel diameters for the aortic trunk branches. In other animal models, the methyl donor betaine (found naturally in many foods such as wheat bran, quinoa, beets and spinach) ameliorates neurobehavioral deficits associated with PAE but the effects on heart structure are unknown. In our model of PAE, betaine supplementation led to a reduction in gross structural defects and appeared to protect against certain types of cardiac defects such as ventricular septal defects and abnormal AV valvular morphology. Furthermore, vessel diameters, IVS thicknesses and mural AV leaflet volumes were normalized while the septal AV leaflet volume was increased. These findings highlight the importance of betaine and potentially methylation levels in the prevention of PAE-related birth defects which could have significant implications for public health.

Facts about Hypospadias

MedlinePlus

... 1997-2011) and the Birth Defects Study to Evaluate Pregnancy exposureS (BD-STEPS; began with births in ... to 2012: Presentation of state-specific data and descriptive brief on variability of prevalence. Birth Def Res ( ...

Maternal occupational pesticide exposure and risk of congenital heart defects in the National Birth Defects Prevention Study.

PubMed

Rocheleau, Carissa M; Bertke, Stephen J; Lawson, Christina C; Romitti, Paul A; Sanderson, Wayne T; Malik, Sadia; Lupo, Philip J; Desrosiers, Tania A; Bell, Erin; Druschel, Charlotte; Correa, Adolfo; Reefhuis, Jennita

2015-10-01

Congenital heart defects (CHDs) are common birth defects, affecting approximately 1% of live births. Pesticide exposure has been suggested as an etiologic factor for CHDs, but previous results were inconsistent. We examined maternal occupational exposure to fungicides, insecticides, and herbicides for 3328 infants with CHDs and 2988 unaffected control infants of employed mothers using data for 1997 through 2002 births from the National Birth Defects Prevention Study, a population-based multisite case-control study. Potential pesticide exposure from 1 month before conception through the first trimester of pregnancy was assigned by an expert-guided task-exposure matrix and job history details self-reported by mothers. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using multivariable logistic regression. Maternal occupational exposure to pesticides was not associated with CHDs overall. In examining specific CHD subtypes compared with controls, some novel associations were observed with higher estimated pesticide exposure: insecticides only and secundum atrial septal defect (OR = 1.8; 95% CI, 1.3-2.7, 40 exposed cases); both insecticides and herbicides and hypoplastic left heart syndrome (OR = 5.1; 95% CI, 1.7-15.3, 4 exposed cases), as well as pulmonary valve stenosis (OR = 3.6; 95% CI, 1.3-10.1, 5 exposed cases); and insecticides, herbicides, and fungicides and tetralogy of Fallot (TOF) (OR = 2.2; 95% CI, 1.2-4.0, 13 exposed cases). Broad pesticide exposure categories were not associated with CHDs overall, but examining specific CHD subtypes revealed some increased odds ratios. These results highlight the importance of examining specific CHDs separately. Because of multiple comparisons, additional work is needed to verify these associations. © 2014 Wiley Periodicals, Inc.

Antihistamine Use in Early Pregnancy and Risk of Birth Defects

PubMed Central

Li, Qian; Mitchell, Allen A.; Werler, Martha M.; Yau, Wai-Ping; Hernández-Díaz, Sonia

2014-01-01

Background Several studies have reported an association between use of specific antihistamines in early pregnancy and certain specific birth defects. Objective To test 16 previously-hypothesized associations between specific antihistamines and specific birth defects, and identify possible new associations. Methods We used 1998-2010 data from the Slone Epidemiology Center Birth Defects Study, a multicenter case-control surveillance program of birth defects in North America. Mothers were interviewed within six months of delivery about demographic, reproductive, medical, and behavioral factors, and details on use of prescription and non-prescription medications. We compared 1st trimester exposure to specific antihistamines between 13,213 infants with specific malformations and 6,982 non-malformed controls, using conditional logistic regression to estimate odds ratios (ORs) and 95% confidence intervals (CIs), with adjustment for potential confounders, including indication for use. Results Overall, 13.7% of controls were exposed to antihistamines during the 1st trimester. The most commonly-used medications were diphenhydramine (4.2%), loratadine (3.1%), doxylamine (1.9%), and chlorpheniramine (1.7%). Where estimates were stable, none supported the previously-hypothesized associations. Among over 100 exploratory comparisons of other specific antihistamine/defect pairs, 14 had ORs ≥1.5 of which 6 had 95% CI bounds excluding 1.0 before but not after adjustment for multiple comparisons. Conclusion Our findings do not provide meaningful support for previously-posited associations between antihistamines and major congenital anomalies; at the same time, we identified associations that had not been previously suggested. We suspect that previous associations may be chance findings in the context of multiple comparisons, a situation which may also apply to our new findings. PMID:24565715

Periconceptional Folic Acid Supplementation and Infant Risk of Congenital Heart Defects in Norway 1999-2009.

PubMed

Leirgul, Elisabeth; Gildestad, Trude; Nilsen, Roy Miodini; Fomina, Tatiana; Brodwall, Kristoffer; Greve, Gottfried; Vollset, Stein Emil; Holmstrøm, Henrik; Tell, Grethe S; Øyen, Nina

2015-09-01

The birth prevalence of congenital heart defects (CHDs) has decreased in Canada and Europe. Recommended intake of folic acid in pregnancy is a suggestive risk-reducing factor for CHDs. We investigated the association between periconceptional intake of folic acid supplements and infant risk of CHDs. Information on maternal intake of folic acid supplements before and during pregnancy in the Medical Birth Registry of Norway 1999-2009 was updated with information on CHD diagnoses from national health registers and the Cardiovascular Diseases in Norway Project. The association between folic acid intake and infant risk of CHD was estimated as relative risk (RR) with binomial log linear regression. Among 517 784 non-chromosomal singleton births, 6200 children were identified with CHD and 1153 with severe CHD. For all births, 18.4% of the mothers initiated folic acid supplements before pregnancy and 31.6% during pregnancy. The adjusted RR for severe CHD was 0.99 [95% confidence interval [CI] 0.86, 1.13] comparing periconceptional intake of folic acid with no intake. Specifically, RR for conotruncal defects was 0.99 [95% CI 0.80, 1.22], atrioventricular septal defects 1.19 [95% CI 0.78, 1.81], left ventricular outflow tract obstructions 1.02 [95% CI 0.78, 1.32], and right ventricular outflow tract obstructions 0.97 [95% CI 0.72, 1.29]. Birth prevalence of septal defects was higher in the group exposed to folic acid supplements with RR 1.19 [95% CI 1.10, 1.30]. Periconceptional folic acid supplement use showed no association with severe CHDs in the newborn. An unexpected association with an increased risk of septal defects warrants further investigation. © 2015 The Authors. Paediatric and Perinatal Epidemiology Published by John Wiley & Sons Ltd.

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

PubMed

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.

Birth outcomes of cases with conotruncal defects of heart - a population-based case-control study.

PubMed

Vereczkey, Attila; Kósa, Zsolt; Csáky-Szunyogh, Melinda; Gerencsér, Balázs; Czeizel, Andrew E

2015-03-01

The aim of this study was to evaluate the birth outcomes of cases with four types of conotruncal defects (CTDs), i.e. common truncus, transposition of great arteries, tetralogy of Fallot and double-outlet right ventricle. Birth outcomes of 597 live-born cases with CTD and 38,151 population controls without any defects were compared in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities completed by socio-demographic variables of their mothers. There was a male excess in cases with CTD (56.8%) with the same mean gestational age (39.4 versus 39.4 weeks) and preterm birth rate (8.2 versus 9.2%), but their mean birth weight was smaller (3077 versus 3276 g) with a high rate of low birthweight (14.6 versus 5.7%) compared to the birth outcomes of population controls. These data indicate intrauterine growth restriction of fetuses affected with transposition of great arteries, tetralogy of Fallot and double-outlet right ventricle particularly in females, while there were a shorter mean gestational age and smaller mean birth weigh in cases with common truncus. In general CTD, except common truncus, had no effect for gestational age but associated with a high risk for intrauterine fetal growth restriction particularly in female cases.

Maternal residential proximity to waste sites and industrial facilities and conotruncal heart defects in offspring.

PubMed

Langlois, Peter H; Brender, Jean D; Suarez, Lucina; Zhan, F Benjamin; Mistry, Jatin H; Scheuerle, Angela; Moody, Karen

2009-07-01

Most studies of the relationship between maternal residential proximity to sources of environmental pollution and congenital cardiovascular malformations have combined heart defects into one group or broad subgroups. The current case-control study examined whether risk of conotruncal heart defects, including subsets of specific defects, was associated with maternal residential proximity to hazardous waste sites and industrial facilities with recorded air emissions. Texas Birth Defects Registry cases were linked to their birth or fetal death certificate. Controls without birth defects were randomly selected from birth certificates. Distances from maternal addresses at delivery to National Priority List (NPL) waste sites, state superfund waste sites, and Toxic Release Inventory (TRI) facilities were determined for 1244 cases (89.5% of those eligible) and 4368 controls (88.0%). Living within 1 mile of a hazardous waste site was not associated with risk of conotruncal heart defects [adjusted odds ratio (aOR) = 0.83, 95% confidence interval (CI) = 0.54, 1.27]. This was true whether looking at most types of defects or waste sites. Only truncus arteriosus showed statistically elevated ORs with any waste site (crude OR: 2.80, 95% CI 1.19, 6.54) and with NPL sites (crude OR: 4.63, 95% CI 1.18, 13.15; aOR 4.99, 95% CI 1.26, 14.51), but the latter was based on only four exposed cases. There was minimal association between conotruncal heart defects and proximity to TRI facilities (aOR = 1.10, 95% CI = 0.91, 1.33). Stratification by maternal age or race/ethnic group made little difference in effect estimates for waste sites or industrial facilities. In this study population, maternal residential proximity to waste sites or industries with reported air emissions was not associated with conotruncal heart defects or its subtypes in offspring, with the exception of truncus arteriosus.

FastStats: Births -- Method of Delivery

MedlinePlus

... Accidents or Unintentional Injuries All Injuries Assault or Homicide Suicide and Self-Inflicted Injury Life Stages and Populations Age Groups Adolescent Health Child Health Infant Health Older Persons’ Health Births Birth Defects or ...

Drinking & Congenital Birth Defects: Alcohol Awareness in the Northern Rivers Region of New South Wales, Australia

ERIC Educational Resources Information Center

Yeigh, Tony; Dip, Grad; Kean, Brian

2005-01-01

Purpose: Guidelines developed to minimise the risk of harm associated with alcohol consumption in Australia focus on promoting population health by changing cultural attitudes. This research study was conducted to uncover attitudes toward maternal drinking and awareness of alcohol-related birth defects within the semi-rural Northern Rivers area of…

Assessing congenital malformation risk from medications used in pregnancy: The contribution of NBDPS in pregnancy labeling of prescription drug products.

PubMed

Tassinari, Melissa S; Sahin, Leyla; Yao, Lynne P

2015-08-01

Obtaining human pregnancy data to inform product labeling is important for drug and biological products. Collection and analyses of safety data on their use during pregnancy is usually performed after approval. The Centers for Disease Control National Birth Defects Prevention Study has provided important data on the relationship between drug use in pregnancy and birth defects. The Pregnancy and Lactation Labeling Rule will set new and improved standards for the inclusion of information about the use of prescription drugs and biological products during pregnancy; the National Birth Defects Prevention Study, along with other data sources, will be critical for providing safety data to inform product labeling. © 2015 Wiley Periodicals, Inc.

March of Dimes Birth Defects Foundation

MedlinePlus

... the loop I'M IN 2017 Premature Birth Report Cards See how prematurity affects your state and ... premature birth: The Prematurity Campaign About us Annual report Our work Community impact Global programs Research Need ...

Computer Simulation of Embryonic Systems: What can a virtual embryo teach us about developmental toxicity? Microcephaly: Computational and organotypic modeling of a complex human birth defect (seminar and lecture - Thomas Jefferson University, Philadelphia, PA)

EPA Science Inventory

(1) Standard practice for assessing developmental toxicity is the observation of apical endpoints (intrauterine death, fetal growth retardation, structural malformations) in pregnant rats/rabbits following exposure during organogenesis. EPA’s computational toxicology research pro...

Caudal dysgenesis in islet-1 transgenic mice

PubMed Central

Muller, Yunhua Li; Yueh, Yir Gloria; Yaworsky, Paul J.; Salbaum, J. Michael; Kappen, Claudia

2014-01-01

Maternal diabetes during pregnancy is responsible for the occurrence of diabetic embryopathy, a spectrum of birth defects that includes heart abnormalities, neural tube defects, and caudal dysgenesis syndromes. Here, we report that mice transgenic for the homeodomain transcription factor Isl-1 develop profound caudal growth defects that resemble human sacral/caudal agenesis. Isl-1 is normally expressed in the pancreas and is required for pancreas development and endocrine cell differentiation. Aberrant regulation of this pancreatic transcription factor causes increased mesodermal cell death, and the severity of defects is dependent on transgene dosage. Together with the finding that mutation of the pancreatic transcription factor HLXB9 causes sacral agenesis, our results implicate pancreatic transcription factors in the pathogenesis of birth defects associated with diabetes. PMID:12738808

Atrioventricular Canal Defect

MedlinePlus

... birth (congenital). The condition is often associated with Down syndrome. Atrioventricular canal defect allows extra blood to flow ... baby's heart is developing. Some factors, such as Down syndrome, might increase the risk of atrioventricular canal defect. ...

Dental Caries and Enamel Defects in Very Low Birth Weight Adolescents

PubMed Central

Nelson, S.; Albert, J.M.; Lombardi, G.; Wishnek, S.; Asaad, G.; Kirchner, H.L.; Singer, L.T.

2011-01-01

Objectives The purpose of this study was to examine developmental enamel defects and dental caries in very low birth weight adolescents with high risk (HR-VLBW) and low risk (LR-VLBW) compared to full-term (term) adolescents. Methods The sample consisted of 224 subjects (80 HR-VLBW, 59 LR-VLBW, 85 term adolescents) recruited from an ongoing longitudinal study. Sociodemographic and medical information was available from birth. Dental examination of the adolescent at the 14-year visit included: enamel defects (opacity and hypoplasia); decayed, missing, filled teeth of incisors and molars (DMFT-IM) and of overall permanent teeth (DMFT); Simplified Oral Hygiene Index for debris/calculus on teeth, and sealant presence. A caregiver questionnaire completed simultaneously assessed dental behavior, access, insurance status and prevention factors. Hierarchical analysis utilized the zero-inflated negative binomial model and zero-inflated Poisson model. Results The zero-inflated negative binomial model controlling for sociodemographic variables indicated that the LR-VLBW group had an estimated 75% increase (p < 0.05) in number of demarcated opacities in the incisors and first molar teeth compared to the term group. Hierarchical modeling indicated that demarcated opacities were a significant predictor of DMFT-IM after control for relevant covariates. The term adolescents had significantly increased DMFT-IM and DMFT scores compared to the LR-VLBW adolescents. Conclusion LR-VLBW was a significant risk factor for increased enamel defects in the permanent incisors and first molars. Term children had increased caries compared to the LR-VLBW group. The effect of birth group and enamel defects on caries has to be investigated longitudinally from birth. PMID:20975268

Modeling travel impedance to medical care for children with birth defects using Geographic Information Systems.

PubMed

Delmelle, Eric M; Cassell, Cynthia H; Dony, Coline; Radcliff, Elizabeth; Tanner, Jean Paul; Siffel, Csaba; Kirby, Russell S

2013-10-01

Children with birth defects may face significant geographic barriers accessing medical care and specialized services. Using a Geographic Information Systems-based approach, one-way travel time and distance to access medical care for children born with spina bifida was estimated. Using 2007 road information from the Florida Department of Transportation, we built a topological network of Florida roads. Live-born Florida infants with spina bifida during 1998 to 2007 were identified by the Florida Birth Defects Registry and linked to hospital discharge records. Maternal residence at delivery and hospitalization locations were identified during the first year of life. Of 668 infants with spina bifida, 8.1% (n = 54) could not be linked to inpatient data, resulting in 614 infants. Of those 614 infants, 99.7% (n = 612) of the maternal residential addresses at delivery were successfully geocoded. Infants with spina bifida living in rural areas in Florida experienced travel times almost twice as high compared with those living in urban areas. When aggregated at county levels, one-way network travel times exhibited statistically significant spatial autocorrelation, indicating that families living in some clusters of counties experienced substantially greater travel times compared with families living in other areas of Florida. This analysis demonstrates the usefulness of linking birth defects registry and hospital discharge data to examine geographic differences in access to medical care. Geographic Information Systems methods are important in evaluating accessibility and geographic barriers to care and could be used among children with special health care needs, including children with birth defects. Copyright © 2013 Wiley Periodicals, Inc.

Neurogenin 2 has an essential role in development of the dentate gyrus.

PubMed

Galichet, Christophe; Guillemot, François; Parras, Carlos M

2008-06-01

The dentate gyrus (DG) of the hippocampus has a central role in learning and memory in adult rodents. The DG is generated soon after birth, although new neurons continue to be generated in the DG throughout life. The proneural factors Mash1 (Ascl1) and neurogenin 2 (Ngn2) are expressed during formation of the DG but their role in the development of this structure has not yet been addressed. Here, we show that Ngn2 is essential for the development of the DG. Ngn2 mutant mice have fewer DG progenitors and these cells present defects in neuronal differentiation. By contrast, the DG is normal in Mash1 mutant mice at birth, and loss of both Mash1 and Ngn2 does not aggravate the defect observed in Ngn2 single mutants. These data establish a unique role of Ngn2 in DG neurogenesis during development and raise the possibility that Ngn2 has a similar function in adult neurogenesis.

Teratogenicity testing in humans: a method demonstrating safety of bendectin.

PubMed

Smithells, R W; Sheppard, S

1978-02-01

We investigated the incidence of birth defects in the offspring of women who took Bendectin during pregnancy. Copies of all prescriptions issued for Bendectin in two Cities, Leeds and Liverpool, over periods of 12 and 14 months, respectively, were scanned and a record initiated for each patient. Birth notifications were later searched for matching with indexed patients. Births were traced for 2,298 patients and the incidence of major defects compared with those in the relevant populations. We found no evidence to suggest that Bendectin is teratogenic in humans.

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

ERIC Educational Resources Information Center

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…

Congenital malformations among newborns admitted in the neonatal unit of a tertiary hospital in Enugu, South-East Nigeria - a retrospective study

PubMed Central

2012-01-01

Background Congenital abnormalities are not uncommon among newborns and contribute to neonatal and infant morbidity and mortality. The prevalence and pattern of presentation vary from place to place. Many a time the exact etiology is unknown but genetic and environmental factors tend to be implicated. Methods The objective of this study was to determine the prevalence of congenital malformations among newborns admitted in a tertiary hospital in Enugu, the nature of these abnormalities and the outcome/prognosis. For purposes of this study, congenital abnormalities are defined as obvious abnormality of structure or form which is present at birth or noticed within a few days after birth. A cross-sectional retrospective study in which a review of the records of all babies admitted in the Newborn Special Care Unit (NBSCU) of the University of Nigeria Teaching Hospital (UNTH), Ituku/Ozalla, Enugu over a four year period (January 2007-April 2011) was undertaken. All babies admitted in the unit with the diagnosis of congenital abnormality were included in the study. Information extracted from the records included characteristics of the baby, maternal characteristics, nature/type of abnormalities and outcome. Data obtained was analyzed using SPSS 13. Rates and proportions were calculated with 95% confidence interval. The proportions were compared using students T-test. Level of significance was set at P < 0.05 Results Seventeen (17) out of a total of six hundred and seven newborn babies admitted in the newborn unit of UNTH over the study period (Jan 2007-March 2011) were found to have congenital abnormalities of various types, giving a prevalence of 2.8%. Common abnormalities seen in these babies were mainly surgical birth defects and included cleft lip/cleft palate, neural tube defects (occurring either singly or in combination with other abnormalities), limb abnormalities (often in combination with neural tube defects of various types), omphalocoele, umbilical herniae, ano-rectal malformations and dysmorphism associated with multiple congenital abnormalities. Conclusions The results of this study show that 2.8% of babies admitted to a Newborn Special Care Unit in a teaching hospital in Enugu had congenital abnormalities and that the commonest forms seen were mainly surgical birth defects and includes cleft lip/cleft palate and neural tube defects. PMID:22472067

Congenital cardiac disease in the newborn infant: past, present, and future.

PubMed

Sadowski, Sharyl L

2009-03-01

Congenital heart defects are the most common of all congenital malformations, with a review of the literature reporting the incidence at 6 to 8 per 1000 live births. The Centers for Disease Control reports cyanotic heart defects occurred in 56.9 per 100,000 live births in the United States in 2005, with higher rates noted when maternal age exceeded 40 years. The incidence of congenital heart disease in premature infants is 12.5 per 1000 live births, excluding isolated patent ductus arteriosus and atrial septal defect. Despite advances in detection and treatment, congenital heart disease accounts for 3% of all infant deaths and 46% of death from congenital malformations. This article discusses the embryology, pathogenesis, clinical presentation, incidence, classifications, and management of congenital heart diseases.

Risk factors for isolated biliary atresia, National Birth Defects Prevention Study, 1997-2002.

PubMed

The, Natalie S; Honein, Margaret A; Caton, Alissa R; Moore, Cynthia A; Siega-Riz, Anna Maria; Druschel, Charlotte M

2007-10-01

Biliary atresia is a rare birth defect that affects 1 in 12,000 to 1 in 19,500 live births. We used data from the National Birth Defects Prevention Study, a multistate case-control study, to identify potential risk factors for isolated biliary atresia (no additional unrelated major birth defects diagnosed). Infants were identified from eight states from 1997 to 2002, with clinical information abstracted from medical records. Potential risk factors assessed include: demographic factors, seasonality, preterm birth, maternal smoking, maternal alcohol use, maternal illicit drug use, maternal health, maternal medication use, maternal vitamin use, and maternal nutrition. Infants of non-Hispanic black mothers were more likely to have biliary atresia than infants of non-Hispanic white mothers (adjusted odds ratio (aOR) = 2.29, 95% confidence interval (CI) 1.07-4.93) and infants conceived during the spring season were more likely to have biliary atresia than infants conceived in winter (aOR = 2.33, 95%CI 1.05-5.16). Low intakes of vitamin E, copper, phosphorus, and beta tocopherol were associated with the occurrence of isolated biliary atresia (borderline significance). Low iron intake had a borderline inverse association with biliary atresia. While this analysis provides support for previous reports of a possible association between seasonal variation and the occurrence of biliary atresia, more data are needed to evaluate whether the seasonal variation is related to infectious agents. The role of nutrients in the development of biliary atresia remains unclear. Further studies of genetic, infectious, and nutrient exposures and the association of biliary atresia are warranted. 2007 Wiley-Liss, Inc

Minor malformations characteristic of the retinoic acid embryopathy and other birth outcomes in children of women exposed to topical tretinoin during early pregnancy.

PubMed

Loureiro, Kirsten D; Kao, Kelly K; Jones, Kenneth Lyons; Alvarado, Sonia; Chavez, Carmen; Dick, Lyn; Felix, Robert; Johnson, Diana; Chambers, Christina D

2005-07-15

Topical tretinoin (Retin-A) is used to treat acne and photodamaged skin. Its teratogenic potential is of concern due to its similarity to isotretinoin (Accutane), a recognized human teratogen. Through the California Teratogen Information Service and Clinical Research Program, between 1983 and 2003, 106 pregnant women with first-trimester exposure to topical tretinoin were prospectively ascertained and followed. Birth outcomes, including pregnancy loss, major structural defects, and pre- and postnatal growth were compared to 389 similarly and prospectively ascertained women with no topical tretinoin exposure during pregnancy. Because a distinct pattern of malformation had already been described for isotretinoin, we also compared exposed (n = 62) and unexposed (n = 191) infants on the prevalence of a specific subset of minor malformations selected to represent the spectrum of defects comprising the retinoic acid embyopathy. There were no significant differences between groups in the proportion of pregnancies ending in spontaneous abortion (6.6% in exposed vs. 8.5% in unexposed; P = 0.53), or infants with major structural defects (2.2% in exposed vs. 1.2% in unexposed; P = 0.62). In addition, the groups were similar in birth weight, length and head circumference, and there were no significant differences between groups in length of gestation. Furthermore, the prevalence of one or more retinoic acid-specific minor malformations did not differ significantly between groups (12.9% in exposed vs. 9.9% in unexposed; P = 0.51). First-trimester topical tretinoin exposure in this study was not associated with an increased risk of any adverse pregnancy outcome evaluated. Specifically, there was no indication that topical tretinoin is associated with an increased risk for minor malformations that are consistent with the retinoic acid embryopathy. Although it is impossible to exclude the possibility that some women/infants may be uniquely susceptible to topical tretinoin exposure, this study provides further reassurance for women who are inadvertently exposed early in pregnancy. Copyright 2005 Wiley-Liss, Inc.

A third case of amelia in Morelet's crocodile from the Yucatan Peninsula.

PubMed

Charruau, Pierre; Niño-Torres, Carlos A

2014-07-03

Congenital defects in crocodilians have received little interest. In the context of global change and increasing threats to biodiversity, data on birth defects occurring in wildlife could be of importance for estimating the health of species populations and their ecosystems. Herein, we report the first case of amelia (i.e. absence of limbs) in Morelet's crocodiles Crocodylus moreletii from Mexico and the third on the southern Yucatan Peninsula. The crocodile in question was a juvenile (41 cm total length) captured in July 2012 in the Río Hondo, the river that forms the border between Mexico and Belize south of the state of Quintana Roo. The prevalence of this malformation in the C. moreletii population of Río Hondo (0.35%) is similar to that reported in 2 previous cases in Belize. Several causes of birth defects in crocodilians have previously been cited in the literature. Although we do not have relevant information to elucidate this case, we discuss some plausible explanations for this birth defect.

Neurological, psychological and educational sequelae of low birth weight.

PubMed

Dunn, H G; Crichton, J U; Grunau, R V; McBurney, A K; McCormick, A Q; Robertson, A M; Schulzer, M

1980-01-01

In a prospective study of 501 infants of low birth weight (LBW) who mostly weighed 2,041 g (4 1/2 lb) or less, and of 203 control infants of full birth weight (FBW > 2,500 g), 335 LBW and 139 FBW children were followed beyond the age of 6 years and 6 months. The incidence of neurological defects was negatively correlated with birth weight, and the mean "global" IQ of different birth weight groups retained a direct relationship. While the relationship of birth weight to IQ gradually became less marked, the effect of social class was increasingly evident from the age of 2 years and 6 months. The preterm children whose birth weight was appropriate for gestational age (AGA) attained a slightly higher mean IQ and significantly better grade placement in the third school year than the children who were unduly light for their gestational age. Details of the neurological and ophthalmological defects are given, and the predictive significance of neonatal variables is analyzed.

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

PubMed Central

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

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

PubMed

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.

Nongenetic risk factors for holoprosencephaly: An updated review of the epidemiologic literature.

PubMed

Summers, April D; Reefhuis, Jennita; Taliano, Joanna; Rasmussen, Sonja A

2018-05-15

Holoprosencephaly (HPE) is a major structural birth defect of the brain that occurs in approximately 1 in 10,000 live births. Although some genetic causes of HPE are known, a substantial proportion of cases have an unknown etiology. Due to the low birth prevalence and rarity of exposure to many potential risk factors for HPE, few epidemiologic studies have had sufficient sample size to examine risk factors. A 2010 review of the literature identified several risk factors that had been consistently identified as occurring more frequently among cases of HPE, including maternal diabetes, twinning, and a predominance of females, while also identifying a number of potential risk factors that had been less widely studied. In this article, we summarize a systematic literature review conducted to update the evidence for nongenetic risk factors for HPE. © 2018 Wiley Periodicals, Inc.

Congenital anomalies and termination of pregnancy in Iran.

PubMed

Samadirad, Bahram; Khamnian, Zhila; Hosseini, Mohammad Bager; Dastgiri, Saeed

2012-01-01

The aim of this study was to document some epidemiological features of termination of pregnancy for birth defects in Iran. We studied 603 pregnant women who were diagnosed/recommended for the termination of pregnancy as having a fetus with some types of birth defect(s). Most women (87.2 percent) had at least one ultrasound examination. The proportion of other screening tests including amniocentesis and genetic tests were 2.8 and 4.6 percent, respectively. Of 603 women, 201 terminated the pregnancy giving a prevalence rate of 33.3 percent (CI 95%: 29.6-37.6). The remaining 402 subjects were unable to get the permission for abortion because of untimely diagnosis/application for termination (20th week of pregnancy and/or later). Forty-eight percent of termination of pregnancies was performed before the 18th week of pregnancy. Neural tube defects, limb deformation, hydrops fetalis, hydrocephaly, and chromosomal anomalies including Down syndrome accounted proportionally for about 65 percent of defects eligible for abortion in the region. Although the rate of termination of pregnancy for birth defects is acceptable at the current situation in the country, more efforts should still be made to convince the community authorities to give more possibility and ease for the termination of pregnancy for congenital anomalies.

Glyphosate and adverse pregnancy outcomes, a systematic review of observational studies.

PubMed

de Araujo, Jessica S A; Delgado, Isabella F; Paumgartten, Francisco J R

2016-06-06

A study in frog and chicken embryos, and reports of a high incidence of birth defects in regions of intensive GM-soy planting have raised concerns on the teratogenic potential of glyphosate-based herbicides. These public concerns prompted us to conduct a systematic review of the epidemiological studies testing hypotheses of associations between glyphosate exposure and adverse pregnancy outcomes including birth defects. A systematic and comprehensive literature search was performed in MEDLINE, TOXLINE, Bireme-BVS and SCOPUS databases using different combinations of exposure and outcome terms. A case-control study on the association between pesticides and congenital malformations in areas of extensive GM soy crops in South America, and reports on the occurrence of birth defects in these regions were reviewed as well. The search found ten studies testing associations between glyphosate and birth defects, abortions, pre-term deliveries, small for gestational date births, childhood diseases or altered sex ratios. Two additional studies examined changes of time-to-pregnancy in glyphosate-exposed populations. Except for an excess of Attention Deficit Hyperactivity Disorder - ADHD (OR = 3.6, 1.3-9.6) among children born to glyphosate appliers, no significant associations between this herbicide and adverse pregnancy outcomes were described. Evidence that in South American regions of intensive GM-soy planting incidence of birth defects is high remains elusive. Current epidemiological evidence, albeit limited to a few studies using non-quantitative and indirect estimates and dichotomous analysis of exposures, does not lend support to public concerns that glyphosate-based pesticides might pose developmental risks to the unborn child. Nonetheless, owing to methodological limitations of existing analytical observational studies, and particularly to a lack of a direct measurement (urine and/or blood levels), or an indirect estimation of exposure that has proven valid, these negative findings cannot be taken as definitive evidence that GLY, at current levels of occupational and environmental exposures, brings no risk for human development and reproduction.

Pregnancy outcome of first trimester exposure to the vitamin K antagonist phenprocoumon depends on duration of treatment.

PubMed

Hüttel, Eleanor; Padberg, Stephanie; Meister, Reinhard; Beck, Evelin; Schaefer, Christof

2017-05-03

The aim of this observational cohort study was to specify the risk of the vitamin K antagonist (VKA) phenprocoumon during first trimester of pregnancy, in particular to estimate the risk of birth defects and spontaneous fetal loss. Four hundred eight pregnancies with phenprocoumon exposure were compared to 1,642 pregnancies neither exposed to VKA nor to other major teratogens or fetotoxicants. There was no typical warfarin embryopathy in our exposed cohort. However, the overall rate of major birth defects was significantly increased (7.4 % vs 2.3 %; adjusted odds ratio [OR adj ] 2.14; 95 % confidence interval [CI] 1.4-3.4). With early cessation until five completed gestational weeks the birth defect risk was similar to the comparison cohort (2.4 % vs 2.3 %; OR adj 1.07; 95 % CI 0.2-3.6). With treatment duration exceeding seven gestational weeks the rate of major birth defects increased up to five-fold (10.8 % vs 2.3 %; OR adj 5.18; 95 % CI 2.0-11.6). The overall risk of spontaneous abortion (SAB) was 38.0 % vs 17.5 % in the comparison cohort (adjusted hazard ratio [HR adj ] 2.9; 95 % CI 2.2-3.9). The treatment duration had a significant effect on the hazard of SAB (HR adj 1.12; 95 % CI 1.01-1.25 per each additional exposure week). Phenprocoumon and other VKA carry an embryotoxic risk. This risk seems to be time-dependent with a steep risk increase for birth defects and also for fetal loss after week 5. If maternal disease permits, VKA therapy should be switched to safer alternatives such as heparins immediately after early recognition of pregnancy.

Cancer and birth defects surveillance system for communities around the Savannah River Site: Phase 2 -- Birth defects. Technical progress report, year 01

DOE Office of Scientific and Technical Information (OSTI.GOV)

Dunbar, J.B.

The Savannah River Region Health Information System Birth Defects Registry (SRRHIS-BDR) began on September 30, 1994. As with the SRRHIS Cancer Registry, surveillance of the 12 Georgia counties was subcontracted to Emory University School of Public Health. Collaborative efforts between the Medical University of South Carolina (MUSC) and Emory University staffs have been characterized by warm relationships and commitment to developing a state of the art registry. As a result of early planning efforts, the authors were able to actually activate the data collection. As of the end of September 1995, partial data from the 1994 birth cohort and up-to-datemore » data for the 1995 birth cohort had been collected on the South Carolina side. The Georgia Staff started later and have not yet caught up to the 1994 level. South Carolina was able to start earlier because they were fortunate to quickly recruit an abstractor. Also, by the end of the first year, an innovative automated data entry system for laptop computers was developed by the computer staff to facilitate and improve data collection.« less

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

PubMed

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 =1 meal/month (OR=1.26, 95% confidence interval (CI): 0.84, 1.89) and > 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.

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

PubMed Central

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 cardiac birth defects. Environ Health Perspect 125:269–277; http://dx.doi.org/10.1289/EHP103 PMID:27518881

Birth defects and congenital health risks in children conceived through assisted reproduction technology (ART): a meeting report.

PubMed

2014-08-01

Assisted Reproduction Treatment (ART) is here to stay. This review addresses the parental background of birth defects, before, during and after conception and focuses both on the underlying subfertility and on the question whether ART as a treatment is an additional contributing factor. Searches were performed in Medline and other databases. Summaries were discussed in a Delphi panel set-up by the European Society of Human Reproduction and Embryology (ESHRE). Several birth defects and adult diseases arise during the earliest stages of ovarian development and oocyte differentiation: this is the case of cleft palate disorders in offspring from female rat exposed to Dioxin during fetal life or the polycystic ovary diseases in female offspring (primates) exposed to elevated androgen concentration during fetal life. Human oocytes and embryos often fail to stop the propagation of aneuploid cells but maintain their ability to repair DNA damages including those introduced by the fertilizing sperm. There is a 29 % increased risk of birth defects in the newborns spontaneously conceived by subfertile couples and the risk is further increased (34 %) when conception is achieved by treating infertlity with ART (Danish IVF Registry). Periconceptional conditions are critical for ART babies: their birth weight is in general smaller (Norvegian Registry) but a more prolonged culture time doubled the number of large babies (Finnish Registry). The long-term developmental effects of ART on child and subsequent health as an adult remains a subject worthy of futher monitoring and investigation.

The five-year survival of children with Down syndrome in Norway 1994-2009 differed by associated congenital heart defects and extracardiac malformations.

PubMed

Brodwall, Kristoffer; Greve, Gottfried; Leirgul, Elisabeth; Klungsøyr, Kari; Holmstrøm, Henrik; Vollset, Stein Emil; Øyen, Nina

2018-05-01

We investigated the prevalence of Down syndrome in a nationwide birth cohort, focusing on congenital heart defects (CHDs), their associations with extracardiac malformations (ECM) and survival. National registers were used to identify Norwegian births (1994-2009) and deaths (1994-2014) and updated with hospital diagnoses. We estimated birth defect frequencies in Down syndrome and the general population, the association between CHDs and ECM and hazard ratios for death from different combinations of CHDs and ECM. Down syndrome was found in 1672 of 953 450 births (17.6 per 10 000). Of the 1251 live births (13.3 per 10 000), 58% had CHD and 9% ECM. CHDs were associated with oesophageal atresia (p = 0.02) and Hirschsprung's disease (p = 0.03) but with no other malformations. The five-year survival for Down syndrome increased from 91.8% (1994-1999) to 95.8% (2000-2009) (p = 0.006), and overall survival was 92.0% with CHD and 97.4% without. Compared with Down syndrome children without CHD or ECM, the five-year mortality was similar for those with nonsevere CHDs, without or with ECM, but 4-7 times higher in those with severe CHDs without ECM and 13-28 times higher in those with severe CHDs and ECM. Down syndrome childhood survival improved, but mortality remained high with severe CHDs and extracardiac defects. ©2018 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

Lower urinary tract development and disease

PubMed Central

Rasouly, Hila Milo; Lu, Weining

2013-01-01

Congenital Anomalies of the Lower Urinary Tract (CALUT) are a family of birth defects of the ureter, the bladder and the urethra. CALUT includes ureteral anomalies such as congenital abnormalities of the ureteropelvic junction (UPJ) and ureterovesical junction (UVJ), and birth defects of the bladder and the urethra such as bladder-exstrophy-epispadias complex (BEEC), prune belly syndrome (PBS), and posterior urethral valves (PUV). CALUT is one of the most common birth defects and is often associated with antenatal hydronephrosis, vesicoureteral reflux (VUR), urinary tract obstruction, urinary tract infections (UTI), chronic kidney disease and renal failure in children. Here, we discuss the current genetic and molecular knowledge about lower urinary tract development and genetic basis of CALUT in both human and mouse models. We provide an overview of the developmental processes leading to the formation of the ureter, bladder, and urethra, and different genes and signaling pathways controlling these developmental processes. Human genetic disorders that affect the ureter, bladder and urethra and associated gene mutations are also presented. As we are entering the post-genomic era of personalized medicine, information in this article may provide useful interpretation for the genetic and genomic test results collected from patients with lower urinary tract birth defects. With evidence-based interpretations, clinicians may provide more effective personalized therapies to patients and genetic counseling for their families. PMID:23408557

[Association of folate metabolism genes MTRR and MTHFR with complex congenital abnormalities among Chinese population in Shanxi Province, China].

PubMed

Zhang, Qin; Bai, Bao-Ling; Liu, Xiao-Zhen; Miao, Chun-Yue; Li, Hui-Li

2014-08-01

To explore the association of polymorphisms in folate metabolism genes, methionine synthase reductase (MTRR) gene and 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, with complex congenital abnormalities and to further investigate its association with complex congenital abnormalities derived from three germ layers. A total of 250 cases of birth defects (with complex congenital abnormalities including congenital heart disease, neural tube defects, and craniofacial anomalies) in Shanxi Province, China were included in the study. MTRR single nucleotide polymorphism (SNP) (rs1801394) and MTHFR SNP (rs1801133) were genotyped by the SNaPshot method, and the genotyping results were compared with those of controls (n=420). SNPs rs1801394 and rs1801133 were associated with multiple birth defects. For the recessive model, individuals with GG genotype at rs1801394 and CC genotype at rs1801133 had a relatively low risk of developing birth defects, so the two genotypes were protective factors against birth defects. The homozygous recessive genotype at rs1801133, which served as a protective factor, was associated with ectoderm- or endoderm-derived complex congenital abnormalities, while the homozygous recessive genotype at rs1801394, which served as a protective factor, was associated with ectoderm-, mesoderm- or endoderm-derived complex congenital abnormalities. Among the Chinese population in Shanxi Province, the SNPs in folate metabolism genes (MTRR and MTHFR) are associated with complex congenital abnormalities and related to ectoderm, mesoderm or endoderm development.

Birth outcomes and maternal residential proximity to natural gas development in rural Colorado.

PubMed

McKenzie, Lisa M; Guo, Ruixin; Witter, Roxana Z; Savitz, David A; Newman, Lee S; Adgate, John L

2014-04-01

Birth defects are a leading cause of neonatal mortality. Natural gas development (NGD) emits several potential teratogens, and U.S. production of natural gas is expanding. We examined associations between maternal residential proximity to NGD and birth outcomes in a retrospective cohort study of 124,842 births between 1996 and 2009 in rural Colorado. We calculated inverse distance weighted natural gas well counts within a 10-mile radius of maternal residence to estimate maternal exposure to NGD. Logistic regression, adjusted for maternal and infant covariates, was used to estimate associations with exposure tertiles for congenital heart defects (CHDs), neural tube defects (NTDs), oral clefts, preterm birth, and term low birth weight. The association with term birth weight was investigated using multiple linear regression. Prevalence of CHDs increased with exposure tertile, with an odds ratio (OR) of 1.3 for the highest tertile (95% CI: 1.2, 1.5); NTD prevalence was associated with the highest tertile of exposure (OR = 2.0; 95% CI: 1.0, 3.9, based on 59 cases), compared with the absence of any gas wells within a 10-mile radius. Exposure was negatively associated with preterm birth and positively associated with fetal growth, although the magnitude of association was small. No association was found between exposure and oral clefts. In this large cohort, we observed an association between density and proximity of natural gas wells within a 10-mile radius of maternal residence and prevalence of CHDs and possibly NTDs. Greater specificity in exposure estimates is needed to further explore these associations.

Coronary artery fistula

MedlinePlus

Congenital heart defect - coronary artery fistula; Birth defect heart - coronary artery fistula ... attaches to one of the chambers of the heart (the atrium or ventricle) or another blood vessel ( ...

Results From the New Jersey Statewide Critical Congenital Heart Defects Screening Program

PubMed Central

Garg, Lorraine F.; Van Naarden Braun, Kim; Knapp, Mary M.; Anderson, Terry M.; Koppel, Robert I.; Hirsch, Daniel; Beres, Leslie M.; Hyg, MS; Sweatlock, Joseph; Olney, Richard S.; Glidewell, Jill; Hinton, Cynthia F.; Kemper, Alex R.

2015-01-01

BACKGROUND AND OBJECTIVE New Jersey was the first state to implement legislatively mandated newborn pulse oximetry screening (POxS) in all licensed birthing facilities to detect critical congenital heart defects (CCHDs). The objective of this report was to evaluate implementation of New Jersey’s statewide POxS mandate. METHODS A 2-pronged approach was used to collect data on infants screened in all New Jersey birthing facilities from August 31, 2011, through May 31, 2012. Aggregate screening results were submitted by each birthing facility. Data on failed screens and clinical characteristics of those newborns were reported to the New Jersey Birth Defects Registry (NJBDR). Three indicators were used to distinguish the added value of mandated POxS from standard clinical care: prenatal congenital heart defect diagnosis, cardiology consultation or echocardiogram indicated or performed before PoxS, or clinical findings at the time of POxS warranting a pulse oximetry measurement. RESULTS Of 75 324 live births in licensed New Jersey birthing facilities, 73 320 were eligible for screening, of which 99% were screened. Forty-nine infants with failed POxS were reported to the NJBDR, 30 of whom had diagnostic evaluations solely attributable to the mandated screening. Three of the 30 infants had previously unsuspected CCHDs and 17 had other diagnoses or non-CCHD echocardiogram findings. CONCLUSIONS In the first 9 months after implementation, New Jersey achieved a high statewide screening rate and established surveillance mechanisms to evaluate the unique contribution of POxS. The screening mandate identified 3 infants with previously unsuspected CCHDs that otherwise might have resulted in significant morbidity and mortality and also identified other significant secondary targets such as sepsis and pneumonia. PMID:23858425

Survival and Morbidity Outcomes of Very Low Birth Weight Infants with Down Syndrome

PubMed Central

Boghossian, Nansi S.; Hansen, Nellie I.; Bell, Edward F.; Stoll, Barbara J.; Murray, Jeffrey C.; Laptook, Abbot R.; Shankaran, Seetha; Walsh, Michele C.; Das, Abhik; Higgins, Rosemary D.

2010-01-01

OBJECTIVE Individuals with Down syndrome (DS) are at increased risk of several morbidities with lifelong health consequences. Little is known about mortality or morbidity risks in early infancy among very-low-birth-weight (VLBW) infants with DS. Our objective was to compare survival and neonatal morbidities between VLBW infants with DS and VLBW infants with other non-DS chromosomal anomalies, other non-chromosomal birth defects, and VLBW infants without major birth defects. METHODS Data were collected prospectively for infants weighing 401-1500 grams born and/or cared for at one of the study centers participating in the NICHD Neonatal Research Network from 1994 through 2008. Risk of death and morbidities including patent ductus arteriosus (PDA), necrotizing enterocolitis (NEC), late onset sepsis (LOS), retinopathy of prematurity (ROP), and bronchopulmonary dysplasia (BPD), were compared between VLBW infants with DS and infants in the other groups. RESULTS Infants with DS were at increased risk of death (adjusted relative risk [RR] 2.47, 95% confidence interval [CI] 2.00-3.07), PDA, NEC, LOS, and BPD relative to infants with no birth defects. Decreased risk of death (RR 0.40, 95% CI 0.31-0.52) and increased risks of NEC and LOS were observed when comparing infants with DS to infants with other non-DS chromosomal anomalies. Relative to infants with non-chromosomal birth defects, infants with DS were at increased risk of PDA and NEC. CONCLUSION The increased risk of morbidities among VLBW infants with DS provides useful information for counseling parents and for caretakers in anticipating the need for enhanced surveillance for prevention of these morbidities. PMID:21098157

Epidemiology of congenital heart disease in Brazil

PubMed Central

Pinto Júnior, Valdester Cavalcante; Branco, Klébia Magalhães P. Castello; Cavalcante, Rodrigo Cardoso; Carvalho Junior, Waldemiro; Lima, José Rubens Costa; de Freitas, Sílvia Maria; Fraga, Maria Nazaré de Oliveira; de Souza, Nayana Maria Gomes

2015-01-01

Introduction Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007. Objective To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes. Methods The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables. Results The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498); atrial septal defect (4,693); persistent ductus arteriosus (2,490); pulmonary stenosis (1,431); tetralogy of Fallot (973); coarctation of the aorta (973); transposition of the great arteries (887); and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults. Conclusion In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration. PMID:26107454

21 CFR 101.79 - Health claims: Folate and neural tube defects.

Code of Federal Regulations, 2013 CFR

2013-04-01

... result in infant mortality or serious disability. The birth defects anencephaly and spina bifida are the... development. Because the neural tube forms and closes during early pregnancy, the defect may occur before a... pregnancy had a reduced risk of having a child with a neural tube defect. (Products containing this level of...

21 CFR 101.79 - Health claims: Folate and neural tube defects.

Code of Federal Regulations, 2014 CFR

2014-04-01

... result in infant mortality or serious disability. The birth defects anencephaly and spina bifida are the... development. Because the neural tube forms and closes during early pregnancy, the defect may occur before a... pregnancy had a reduced risk of having a child with a neural tube defect. (Products containing this level of...

21 CFR 101.79 - Health claims: Folate and neural tube defects.

Code of Federal Regulations, 2012 CFR

2012-04-01

... result in infant mortality or serious disability. The birth defects anencephaly and spina bifida are the... development. Because the neural tube forms and closes during early pregnancy, the defect may occur before a... pregnancy had a reduced risk of having a child with a neural tube defect. (Products containing this level of...

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

PubMed

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.

Associated Anomalies among Infants with Oral Clefts at Birth and during a 1 year Follow-up

PubMed Central

Rittler, Monica; Cosentino, Viviana; López-Camelo, Jorge S; Murray, Jeffrey C; Wehby, George; Castilla, Eduardo E

2012-01-01

Reports of birth defects rates may focus on defects observed in the newborn period or include defects diagnosed at older ages. However, little information is available on the rates of additional anomalies detected after birth or on the ages at which such anomalies are diagnosed. The aims of this work were to describe the initial diagnoses of oral clefts, isolated or associated with other defects, in newborn infants ascertained in hospitals of the ECLAMC network, and diagnostic changes that occurred due to detection of additional defects during a one-year follow-up period. Seven hundred ten liveborn infants with cleft lip only (CLO), cleft lip with cleft palate (CLP), or cleft palate (CP) were ascertained between 2003 and 2005. Prevalence estimates of isolated and associated clefts, diagnoses in infants with associated clefts, and the percentage of isolated clefts that were reclassified as associated were established. Birth prevalence estimates (per 1,000) were as follows: Total: 1.7; CLP: 0.94 (ASO=23.5%); CP: 0.46 (ASO=42.3%); CLO: 0.28 (ASO=7.6%). Initial diagnoses in infants with associated clefts included 38 infants with chromosomal abnormalities, 33 with non-chromosomal syndromes, 16 with malformation sequences, and 98 with multiple anomalies of unknown etiology. Seven percent of newborns initially classified as isolated were later reclassified as associated. Ten infants without associated defects or clinically suspected syndromes were diagnosed as syndromic only through laboratory findings or family history, illustrating the difference between the terms associated vs. isolated, which refers to presence or absence of associated anomalies, and syndromic vs. non-syndromic, which refers to etiology. PMID:21671378

Mediation analysis of gestational age, congenital heart defects, and infant birth-weight.

PubMed

Wogu, Adane F; Loffredo, Christopher A; Bebu, Ionut; Luta, George

2014-12-17

In this study we assessed the mediation role of the gestational age on the effect of the infant's congenital heart defects (CHD) on birth-weight. We used secondary data from the Baltimore-Washington Infant Study (1981-1989). Mediation analysis was employed to investigate whether gestational age acted as a mediator of the association between CHD and reduced birth-weight. We estimated the mediated effect, the mediation proportion, and their corresponding 95% confidence intervals (CI) using several methods. There were 3362 CHD cases and 3564 controls in the dataset with mean birth-weight of 3071 (SD = 729) and 3353 (SD = 603) grams, respectively; the mean gestational age was 38.9 (SD = 2.7) and 39.6 (SD = 2.2) weeks, respectively. After adjusting for covariates, the estimated mediated effect by gestational age was 113.5 grams (95% CI, 92.4-134.2) and the mediation proportion was 40.7% (95% CI, 34.7%-46.6%), using the bootstrap approach. Gestational age may account for about 41% of the overall effect of heart defects on reduced infant birth-weight. Improved prenatal care and other public health efforts that promote full term delivery, particularly targeting high-risk families and mothers known to be carrying a fetus with CHD, may therefore be expected to improve the birth-weight of these infants and their long term health.

Maternal characteristics and birth outcomes of pregnant women who had offspring with congenital ear abnormalities - a population-based case-control study.

PubMed

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.

Engineering human cell spheroids to model embryonic tissue fusion in vitro.

EPA Science Inventory

Epithelial-mesenchymal interactions drive embryonic fusion events during development and upon perturbation can result in birth defects. Cleft palate and neural tube defects can result from genetic defects or environmental exposures during development, yet very little is known abo...

Mouse Models for Investigating the Developmental Bases of Human Birth Defects

PubMed Central

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 effective strategies for both prevention and treatment of human birth defects. Animal models are invaluable in these efforts because they allow one to interrogate the genetic, molecular and cellular events that distinguish normal from abnormal development. Several features of the mouse make it a particularly powerful experimental model: it is a mammalian system with similar embryology, anatomy and physiology to humans; genes, proteins and regulatory programs are largely conserved between human and mouse; and finally, gene targeting in murine embryonic stem cells has made the mouse genome amenable to sophisticated genetic manipulation currently unavailable in any other model organism. PMID:16641221

Birth defects related to bendectin use in pregnancy. I. Oral clefts and cardiac defects.

PubMed

Mitchell, A A; Rosenberg, L; Shapiro, S; Slone, D

1981-06-12

The risk of birth defects previously associated with Bendectin use in early pregnancy were evaluated in a case-control study of malformed infants whose mothers were interviewed in three regional centers; 98 infants with isolated cleft palate (CP), 221 with cleft lip with or without cleft palate (CL +/- CP), and 122 with selected heart defects (HD) were compared with 970 other malformed infants who served as controls. Relative risk estimates (with their 95% confidence limits) for first-trimester exposure to Bendectin were as follows: CP, 0.9 (0.5 to 1.5); CL +/- CP, 0.6 (0.4 to 0.8); and HD, 1.0 (0.6 to 1.6). Allowance for a large number of potentially confounding factors did not materially influence the risk estimates. These findings suggest that early in utero exposure to Bendectin does not appreciably increase the risk of oral clefts or selected cardiac defects.

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

PubMed

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.

Inhibition of the 3-hydroxy-3-methyl-glutaryl-CoA reductase induces orofacial defects in zebrafish.

PubMed

Signore, Iskra A; Jerez, Carolina; Figueroa, Diego; Suazo, José; Marcelain, Katherine; Cerda, Oscar; Colombo Flores, Alicia

2016-10-01

Orofacial clefts (OFCs) are common birth defects, which include a range of disorders with a complex etiology affecting formation of craniofacial structures. Some forms of syndromic OFCs are produced by defects in the cholesterol pathway. The principal enzyme of the cholesterol pathway is the 3-hydroxy-3-methyl-glutaryl-CoA reductase (HMGCR). Our aim is to study whether defects of HMGCR function would produce orofacial malformation similar to those found in disorders of cholesterol synthesis. We used zebrafish hmgcrb mutants and HMGCR inhibition assay using atorvastatin during early and late stages of orofacial morphogenesis in zebrafish. To describe craniofacial phenotypes, we stained cartilage and bone and performed in situ hybridization using known craniofacial markers. Also, we visualized neural crest cell migration in a transgenic fish. Our results showed that mutants displayed loss of cartilage and diminished orofacial outgrowth, and in some cases palatal cleft. Late treatments with statin show a similar phenotype. Affected-siblings displayed a moderate phenotype, whereas early-treated embryos had a minor cleft. We found reduced expression of the downstream component of Sonic Hedgehog-signaling gli1 in ventral brain, oral ectoderm, and pharyngeal endoderm in mutants and in late atorvastatin-treated embryos. Our results suggest that HMGCR loss-of-function primarily affects postmigratory cranial neural crest cells through abnormal Sonic Hedgehog signaling, probably induced by reduction in metabolites of the cholesterol pathway. Malformation severity correlates with the grade of HMGCR inhibition, developmental stage of its disruption, and probably with availability of maternal lipids. Together, our results might help to understand the spectrum of orofacial phenotypes found in cholesterol synthesis disorders. Birth Defects Research (Part A) 106:814-830, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

FastStats: Hospice Care

MedlinePlus

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FastStats: Sinus Conditions

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FastStats: Infectious Disease

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FastStats: Body Measurements

MedlinePlus

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FastStats: Life Expectancy

MedlinePlus

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Case Study: Organotypic human in vitro models of embryonic ...

EPA Pesticide Factsheets

Morphogenetic fusion of tissues is a common event in embryonic development and disruption of fusion is associated with birth defects of the eye, heart, neural tube, phallus, palate, and other organ systems. Embryonic tissue fusion requires precise regulation of cell-cell and cell-matrix interactions that drive proliferation, differentiation, and morphogenesis. Chemical low-dose exposures can disrupt morphogenesis across space and time by interfering with key embryonic fusion events. The Morphogenetic Fusion Task uses computer and in vitro models to elucidate consequences of developmental exposures. The Morphogenetic Fusion Task integrates multiple approaches to model responses to chemicals that leaad to birth defects, including integrative mining on ToxCast DB, ToxRefDB, and chemical structures, advanced computer agent-based models, and human cell-based cultures that model disruption of cellular and molecular behaviors including mechanisms predicted from integrative data mining and agent-based models. The purpose of the poster is to indicate progress on the CSS 17.02 Virtual Tissue Models Morphogenesis Task 1 products for the Board of Scientific Counselors meeting on Nov 16-17.

RELATIONSHIP BETWEEN AIR QUALITY AND SELECTED CARDIAC DEFECTS AND ORAL CLEFTS, TEXAS, 1997-2000

EPA Science Inventory

One previous study of air quality and birth defects reported associations between carbon monoxide and ozone exposures and selected cardiac defects. To corroborate these results the authors investigated the association between maternal exposures to carbon monoxide, nitrogen dioxid...

Vascular ring

MedlinePlus

... with aberrant subclavian and left ligamentum ateriosus; Congenital heart defect - vascular ring; Birth defect heart - vascular ring ... accounts for less than 1% of all congenital heart problems. The condition occurs as often in males ...

Associations between exposure to ambient benzene and PM(2.5) during pregnancy and the risk of selected birth defects in offspring.

PubMed

Tanner, Jean Paul; Salemi, Jason L; Stuart, Amy L; Yu, Haofei; Jordan, Melissa M; DuClos, Chris; Cavicchia, Philip; Correia, Jane A; Watkins, Sharon M; Kirby, Russell S

2015-10-01

A growing number of studies have investigated the association between air pollution and the risk of birth defects, but results are inconsistent. The objective of this study was to examine whether maternal exposure to ambient PM2.5 or benzene increases the risk of selected birth defects in Florida. We conducted a retrospective cohort study of singleton infants born in Florida from 2000 to 2009. Isolated and non-isolated birth defect cases of critical congenital heart defects, orofacial clefts, and spina bifida were identified from the Florida Birth Defects Registry. Estimates of maternal exposures to PM2.5 and benzene for all case and non-case pregnancies were derived by aggregation of ambient measurement data, obtained from the US Environmental Protection Agency Air Quality System, during etiologically relevant time windows. Multivariable Poisson regression was used to estimate adjusted prevalence ratios (aPRs) and 95% confidence intervals (CIs) for each quartile of air pollutant exposure. Compared to the first quartile of PM2.5 exposure, higher levels of exposure were associated with an increased risk of non-isolated truncus arteriosus (aPR4th Quartile, 8.80; 95% CI, 1.11-69.50), total anomalous pulmonary venous return (aPR2nd Quartile, 5.00; 95% CI, 1.10-22.84), coarctation of the aorta (aPR4th Quartile, 1.72; 95% CI, 1.15-2.57; aPR3rd Quartile, 1.60; 95% CI, 1.07-2.41), interrupted aortic arch (aPR4th Quartile, 5.50; 95% CI, 1.22-24.82), and isolated and non-isolated any critical congenital heart defect (aPR3rd Quartile, 1.13; 95% CI, 1.02-1.25; aPR4th Quartile, 1.33; 95% CI, 1.07-1.65). Mothers with the highest level of exposure to benzene were more likely to deliver an infant with an isolated cleft palate (aPR4th Quartile, 1.52; 95% CI, 1.13-2.04) or any orofacial cleft (aPR4th Quartile, 1.29; 95% CI, 1.08-1.56). An inverse association was observed between exposure to benzene and non-isolated pulmonary atresia (aPR4th Quartile, 0.19; 95% CI, 0.04-0.84). Our results suggest a few associations between exposure to ambient PM2.5 or benzene and specific birth defects in Florida. However, many related comparisons showed no association. Hence, it remains unclear whether associations are clinically significant or can be causally related to air pollution exposures. Copyright © 2015 Elsevier Inc. All rights reserved.

FastStats: Illegal Drug Use

MedlinePlus

... Accidents or Unintentional Injuries All Injuries Assault or Homicide Suicide and Self-Inflicted Injury Life Stages and Populations Age Groups Adolescent Health Child Health Infant Health Older Persons’ Health Births Birth Defects or ...

FastStats: Birthweight and Gestation

MedlinePlus

... Accidents or Unintentional Injuries All Injuries Assault or Homicide Suicide and Self-Inflicted Injury Life Stages and Populations Age Groups Adolescent Health Child Health Infant Health Older Persons’ Health Births Birth Defects or ...

FastStats: Nursing Home Care

MedlinePlus

... Accidents or Unintentional Injuries All Injuries Assault or Homicide Suicide and Self-Inflicted Injury Life Stages and Populations Age Groups Adolescent Health Child Health Infant Health Older Persons’ Health Births Birth Defects or ...

FastStats: Mammography/Breast Cancer

MedlinePlus

... Accidents or Unintentional Injuries All Injuries Assault or Homicide Suicide and Self-Inflicted Injury Life Stages and Populations Age Groups Adolescent Health Child Health Infant Health Older Persons’ Health Births Birth Defects or ...

FastStats: Allergies/Hay Fever

MedlinePlus

... Accidents or Unintentional Injuries All Injuries Assault or Homicide Suicide and Self-Inflicted Injury Life Stages and Populations Age Groups Adolescent Health Child Health Infant Health Older Persons’ Health Births Birth Defects or ...

Prevalence of Orofacial Clefts among Live Births in China: A Systematic Review and Meta-Analysis.

PubMed

Wang, Mengying; Yuan, Yuan; Wang, Zifan; Liu, Dongjing; Wang, Zhuqing; Sun, Feng; Wang, Ping; Zhu, Hongping; Li, Jing; Wu, Tao; Beaty, Terri H

2017-07-17

Orofacial clefts (OFCs) are common human birth defects in China. However, studies on the prevalence of OFCs present inconsistent results. The overall prevalence and geographic distribution of OFCs are poorly described in China. Thus, we conducted a systematic review and meta-analysis to estimate the prevalence of OFCs. The systematic review and meta-analysis were conducted on the basis of an established protocol (PROSPERO 2015: CRD42015030198). We systematically searched for articles in four electronic databases, including Embase, PubMed, Wanfang Database, and China National Knowledge Infrastructure (CNKI) to identify relevant studies about prevalence of OFCs in China. Meta-analysis, including subgroup analysis, was conducted to estimate the pooled prevalence. A total of 41 studies published between 1986 and 2015 were included in our analysis. The sample size ranged from 2,586 to 4,611,808 live births. The random-effects model of meta-analysis showed that the overall prevalence of OFCs in China was 1.4 per 1000 live births (95% confidence interval [CI], 1.1-1.7). In subgroup analysis based on geographic regions, we found that OFC prevalence in Southwest (2.3 per 1000 live births, 95% CI, 1.1-4.7) was higher than that in other regions of China. There were no significant time trends of OFCs during the study period (p-value = 0.47). The overall prevalence of OFCs in China was 1.4 per 1000 live births. No significant secular trend of prevalence has been found in this analysis. Further studies need to be conducted to explore the etiology of OFC to better control the risk of this common birth defect. Birth Defects Research 109:1011-1019, 2017. © 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

Assisted reproductive technologies: a hierarchy of risks for conception, pregnancy outcomes and treatment decisions.

PubMed

Davies, M J; Rumbold, A R; Moore, V M

2017-08-01

The use of assisted reproductive technologies (ART) for the treatment of infertility has grown exponentially over the last 20 years, and now accounts for 4% of all births in Australia, and over 1 m births annually around the globe. There is consistent reporting of increased risk of adverse perinatal outcomes and birth defects following infertility treatment. However, change in practice has been stymied by critical knowledge gaps with regards to (a) the relative contribution of patient and treatment factors to adverse outcomes, (b) the independent contribution of specific contemporary treatments and treatment combinations to outcomes, (c) the impact of innovations in laboratory and clinical practice on treatment success and observed risk and (d) changes over time in patient characteristics. Here we summarize key findings from the South Australian Birth Cohort, which is a whole-of-population cohort of over 300,000 births from 1986 to 2002. Relative to spontaneous conceptions, singletons from assisted conception were more likely to be stillborn [odds ratio (OR)=1.82; 95% confidence interval (CI) 1.34-2.48], while survivors as a group were comprehensively disadvantaged at birth, including lower birth weight (OR=2109 g; 95% CI 2129-289), very low birth weight (OR=2.74; 95% CI 2.19-3.43), very preterm birth (OR=2.30; 95% CI 1.82-2.90) and neonatal death (OR=2.04; 95% CI 1.27-3.26). Major birth defects, including cardiac, urogenital and musculoskeletal defects are doubled after fresh ICSI cycles, which is a particular concern as ICSI now accounts for 70% of all treatment cycles globally. Future study is needed to provide contemporary, precise evidence to inform patient and clinic decision making, and generate knowledge for future innovation in ART laboratory methods and clinical practice, thereby optimizing treatment and health outcomes while reducing adverse events.

Double aortic arch

MedlinePlus

Aortic arch anomaly; Double arch; Congenital heart defect - double aortic arch; Birth defect heart - double aortic arch ... aorta is a single arch that leaves the heart and moves leftward. In double aortic arch, some ...

FastStats: Sexually Transmitted Diseases/STD

MedlinePlus

... Accidents or Unintentional Injuries All Injuries Assault or Homicide Suicide and Self-Inflicted Injury Life Stages and Populations Age Groups Adolescent Health Child Health Infant Health Older Persons’ Health Births Birth Defects or ...

[Prenatal diagnostics of chromosomal aberrations Czech Republic: 1994-2007].

PubMed

Gregor, V; Sípek, A; Sípek, A; Horácek, J '; Langhammer, P; Petrzílková, L; Calda, P

2009-02-01

An analysis of prenatal diagnostics efficiency of selected types of chromosomal aberrations in the Czech Republic in 2007. Update of 1994-2007 data according to particular selected diagnoses. Retrospective epidemiological analysis of pre- and postnatal chromosomal aberrations diagnostics and its efficiency. Data on pre- and postnatally diagnosed birth defects in the Czech Republic during 1994-2007 were used. Data on prenatally diagnosed birth defects (and for terminated pregnancies) were collected from particular departments of prenatal diagnostics, medical genetics and ultrasound diagnostics in the Czech Republic, data on birth defects in births from the National Birth Defects Register (Institute for Health Information and Statistics). Total numbers over the period under the study, mean incidences of selected types of chromosomal aberrations and mean prenatal diagnostics efficiencies were analyzed. Following chromosomal aberrations were studied: Down, Edwards, Patau, Turner and Klinefelter syndromes and syndromes 47,XXX and 47,XYY. A relative proportion of Down, Edwards and Patau syndromes as well as other autosomal and gonosomal aberration is presented in figures. Recently, trisomies 13, 18 and 21 present around 70% of all chromosomal aberrations in selectively aborted fetuses, in other pregnancies, "other chromosomal aberrations" category (mostly balanced reciprocal translocations and inversions) present more than 2/3 of all diagnoses. During the period under the study, following total numbers, mean relative incidences (per 10,000 live births, in brackets) and mean prenatal diagnostics efficiency (in %) were found in following chromosomal syndromes: Down syndrome 2,244 (16.58) and 63.37%, Edwards syndrome 521 (3.85) and 79.93%, Patau syndrome 201 (1.49) and 68.87%, Turner syndrome 380 (2.81) and 79.89%, 47,XXX syndrome 61 (0.45) and 59.74%, Klinefelter syndrome 163 (1.20) and 73.65% and 47,XYY syndrome 22 (0.16) and 54.76%. The study gives updated results of incidences analysis of both pre- and postnatally diagnosed chromosomal birth defects in the Czech Republic during the 1994-2007 period. Incidences found in our study correspond (in case of trisomies 13, 18 and 21) with those published widely in literature as well as with those found in large-scale international studies (ICBDSR, EUROCAT). In case of gonosomal aberrations, incidences found in this study are lower that those published, most probably due to a later registration (over 15 years of age of the child) of these diagnoses.

Research of Medication Use during Pregnancy

MedlinePlus

... Podcasts and Videos Buttons CDC’s Work Pregnancy Homepage Research Recommend on Facebook Tweet Share Compartir CDC and ... registration. Studies from the Centers for Birth Defects Research and Prevention CDC funds the Centers for Birth ...

Cleft Lip and Palate (For Parents)

MedlinePlus

... As for all kids, being involved in sports, music, and other activities will go a long way ... Can Parents Help Kids Handle Teasing? Speech-Language Therapy Birth Defects When Your Baby Has a Birth ...

Birth Defects & Other Health Conditions

MedlinePlus

... Congenital heart defects and CCHD Congenital syphilis Congenital Zika syndrome Coxsackie infection and your baby Cystic fibrosis ... families in our new awareness campaign video. GO Zika services near you Visit Zika Care Connect to ...

Divorce in families of children with Down syndrome: a population-based study.

PubMed

Urbano, Richard C; Hodapp, Robert M

2007-07-01

In this study, we examined the nature, timing, and correlates of divorce in families of children with Down syndrome (647), other birth defects (10,283) and no identified disability (361,154). Divorce rates among families of children with Down syndrome were lower than in the other two groups. When divorce did occur in the Down syndrome group, however, a higher proportion occurred within the first 2 years after the child's birth. Mothers and fathers of children with Down syndrome were much more likely to divorce if they were younger, had not graduated from high school, and if fathers were less educated and lived in a rural area. Few effects on divorce were noted for a variety of family structure variables.

Effects and safety of periconceptional folate supplementation for preventing birth defects

PubMed Central

Maria De-Regil, Luz; Fernández-Gaxiola, Ana C; Dowswell, Therese; Peña-Rosas, Juan Pablo

2014-01-01

Background It has been reported that neural tube defects can be prevented with periconceptional folic acid supplementation. The effects of different doses, forms and schemes of folate supplementation for the prevention of other birth defects and maternal and infant outcomes are unclear. Objectives This review updates and expands a previous Cochrane Review assessing the effects of periconceptional supplementation with folic acid to reduce neural tube defects (NTDs). We examined whether folate supplementation before and during early pregnancy can reduce neural tube and other birth defects (including cleft palate) without causing adverse outcomes for mothers or babies. Search methods We searched the Cochrane Pregnancy and Childbirth Group’s Trials Register (July 2010). Additionally, we searched the international clinical trials registry platform and contacted relevant organisations to identify ongoing and unpublished studies. Selection criteria We included all randomised or quasi-randomised trials evaluating the effect of periconceptional folate supplementation alone, or in combination with other vitamins and minerals, in women independent of age and parity. Data collection and analysis We assessed trials for methodological quality using the standard Cochrane criteria. Two authors independently assessed the trials for inclusion, one author extracted data and a second checked for accuracy. Main results Five trials involving 6105 women (1949 with a history of a pregnancy affected by a NTD and 4156 with no history of NTDs) were included. Overall, the results are consistent in showing a protective effect of daily folic acid supplementation (alone or in combination with other vitamins and minerals) in preventing NTDs compared with no interventions/placebo or vitamins and minerals without folic acid (risk ratio (RR) 0.28, 95% confidence interval (CI) 0.15 to 0.52). Only one study assessed the incidence of NTDs and the effect was not statistically significant (RR 0.08, 95% CI 0.00 to 1.33) although no events were found in the group that received folic acid. Folic acid had a significant protective effect for reoccurrence (RR 0.32, 95% CI 0.17 to 0.60). There is no statistically significant evidence of any effects on prevention of cleft palate, cleft lip, congenital cardiovascular defects, miscarriages or any other birth defects. There were no included trials assessing the effects of this intervention on maternal blood folate or anaemia at term. We found no evidence of short-term side effects. Authors’ conclusions Folic acid, alone or in combination with vitamins and minerals, prevents NTDs but does not have a clear effect on other birth defects. PMID:20927767

Potential health economic benefits of vitamin supplementation.

PubMed Central

Bendich, A; Mallick, R; Leader, S

1997-01-01

This study used published relative risk estimates for birth defects, premature birth, and coronary heart disease associated with vitamin intake to project potential annual cost reductions in U.S. hospitalization charges. Epidemiological and intervention studies with relative risk estimates were identified via MEDLINE. Preventable fraction estimates were derived from data on the percentage of at-risk Americans with daily vitamin intake levels lower than those associated with disease risk reduction. Hospitalization rates were obtained from the 1992 National Hospital Discharge Survey. Charge data from the 1993 California Hospital Discharge Survey were adjusted to 1995 national charges using the medical component of the Consumer Price Index. Based on published risk reductions, annual hospital charges for birth defects, low-birth-weight premature births, and coronary heart disease could be reduced by about 40, 60, and 38%, respectively. For the conditions studied, nearly $20 billion in hospital charges were potentially avoidable with daily use of folic acid and zinc-containing multivitamins by all women of childbearing age and daily vitamin E supplementation by those over 50. PMID:9217432

Impact of Co-Occurring Birth Defects on the Timing of Newborn Hearing Screening and Diagnosis

PubMed Central

Chapman, Derek A.; Stampfel, Caroline C.; Bodurtha, Joann N.; Dodson, Kelley M.; Pandya, Arti; Lynch, Kathleen B.; Kirby, Russell S.

2016-01-01

Purpose Early detection of hearing loss in all newborns and timely intervention are critical to children's cognitive, verbal, behavioral, and social development. The initiation of appropriate early intervention services before 6 months of age can prevent or reduce negative developmental consequences. The purpose of this study was to assess, using large, population-based registries, the effect of co-occurring birth defects (CBDs) on the timing and overall rate of hearing screening and diagnosis. Method The authors linked statewide data from newborn hearing screenings, a birth defects registry, and birth certificates to assess the timeliness of newborn hearing screening and diagnosis of hearing loss (HL) for infants with and without CBDs in 485 children with confirmed HL. Results Nearly one third (31.5%) of children with HL had 1 or more CBDs. The presence of CBDs prolonged the time of the initial infant hearing screening, which contributed to further delays in the subsequent diagnosis of HL. Conclusions Better coordination of HL assessment into treatment plans for children with CBDs may enable earlier diagnosis of HL and provide opportunities for intervention that will affect long-term developmental outcomes for these children. PMID:21940980

FastStats: Birth Defects or Congenital Anomalies

MedlinePlus

... Tweet Share Compartir Data are for the U.S. Mortality Number of infant deaths: 4,825 Infant deaths ... Data for 2016 [PDF – 1.1 MB] Infant Mortality Statistics from the 2013 Period Linked Birth/Infant ...

Birth Defects

MedlinePlus

... from the 2013 period: Linked birth/infant death data set. National Vital Statistics Reports , 64(9), 1–30. Retrieved July 26, 2017, from https://www.cdc.gov/nchs/data/nvsr/nvsr64/nvsr64_09.pdf (PDF - 993 KB) ...

Birth Outcomes and Maternal Residential Proximity to Natural Gas Development in Rural Colorado

PubMed Central

Guo, Ruixin; Witter, Roxana Z.; Savitz, David A.; Newman, Lee S.; Adgate, John L.

2014-01-01

Background: Birth defects are a leading cause of neonatal mortality. Natural gas development (NGD) emits several potential teratogens, and U.S. production of natural gas is expanding. Objectives: We examined associations between maternal residential proximity to NGD and birth outcomes in a retrospective cohort study of 124,842 births between 1996 and 2009 in rural Colorado. Methods: We calculated inverse distance weighted natural gas well counts within a 10-mile radius of maternal residence to estimate maternal exposure to NGD. Logistic regression, adjusted for maternal and infant covariates, was used to estimate associations with exposure tertiles for congenital heart defects (CHDs), neural tube defects (NTDs), oral clefts, preterm birth, and term low birth weight. The association with term birth weight was investigated using multiple linear regression. Results: Prevalence of CHDs increased with exposure tertile, with an odds ratio (OR) of 1.3 for the highest tertile (95% CI: 1.2, 1.5); NTD prevalence was associated with the highest tertile of exposure (OR = 2.0; 95% CI: 1.0, 3.9, based on 59 cases), compared with the absence of any gas wells within a 10-mile radius. Exposure was negatively associated with preterm birth and positively associated with fetal growth, although the magnitude of association was small. No association was found between exposure and oral clefts. Conclusions: In this large cohort, we observed an association between density and proximity of natural gas wells within a 10-mile radius of maternal residence and prevalence of CHDs and possibly NTDs. Greater specificity in exposure estimates is needed to further explore these associations. Citation: McKenzie LM, Guo R, Witter RZ, Savitz DA, Newman LS, Adgate JL. 2014. Birth outcomes and maternal residential proximity to natural gas development in rural Colorado. Environ Health Perspect 122:412–417; http://dx.doi.org/10.1289/ehp.1306722 PMID:24474681

Understanding diabetic teratogenesis: where are we now and where are we going?

PubMed

Zabihi, Sheller; Loeken, Mary R

2010-10-01

Maternal pregestational diabetes (type 1 or type 2) poses an increased risk for a broad spectrum of birth defects. To our knowledge, this problem first came to the attention of the Teratology Society at the 14th Annual Meeting in Vancouver, B.C. in 1974, with a presentation by Lewis Holmes, "Etiologic heterogeneity of neural tube defects". Although advances in the control of diabetes in the decades since the discovery of insulin in the 1920's have reduced the risk for birth defects during diabetic pregnancy, the increasing incidence of diabetes among women of childbearing years indicates that this cause of birth defects is a growing public health concern. Major advances in understanding how a disease of maternal fuel metabolism can interfere with embryogenesis of multiple organ systems have been made in recent years. In this review, we trace the history of the study of diabetic teratogenesis and discuss a model in which tissue-specific developmental control genes are regulated at specific times in embryonic development by glucose metabolism. The major function of such genes is to suppress apoptosis, perhaps to preserve proliferative capability, and inhibit premature senescence. © 2010 Wiley-Liss, Inc.

Impact of Missing Data for Body Mass Index in an Epidemiologic Study.

PubMed

Razzaghi, Hilda; Tinker, Sarah C; Herring, Amy H; Howards, Penelope P; Waller, D Kim; Johnson, Candice Y

2016-07-01

Objective To assess the potential impact of missing data on body mass index (BMI) on the association between prepregnancy obesity and specific birth defects. Methods Data from the National Birth Defects Prevention Study (NBDPS) were analyzed. We assessed the factors associated with missing BMI data among mothers of infants without birth defects. Four analytic methods were then used to assess the impact of missing BMI data on the association between maternal prepregnancy obesity and three birth defects; spina bifida, gastroschisis, and cleft lip with/without cleft palate. The analytic methods were: (1) complete case analysis; (2) assignment of missing values to either obese or normal BMI; (3) multiple imputation; and (4) probabilistic sensitivity analysis. Logistic regression was used to estimate crude and adjusted odds ratios (aOR) and 95 % confidence intervals (CI). Results Of NBDPS control mothers 4.6 % were missing BMI data, and most of the missing values were attributable to missing height (~90 %). Missing BMI data was associated with birth outside of the US (aOR 8.6; 95 % CI 5.5, 13.4), interview in Spanish (aOR 2.4; 95 % CI 1.8, 3.2), Hispanic ethnicity (aOR 2.0; 95 % CI 1.2, 3.4), and <12 years education (aOR 2.3; 95 % CI 1.7, 3.1). Overall the results of the multiple imputation and probabilistic sensitivity analysis were similar to the complete case analysis. Conclusions Although in some scenarios missing BMI data can bias the magnitude of association, it does not appear likely to have impacted conclusions from a traditional complete case analysis of these data.

Gabriella Miller Kids First (GMKF/Kids First) Pediatric Research Program | Office of Cancer Genomics

Cancer.gov

The Gabriella Miller Kids First initiative is a trans-NIH effort to increase understanding of genetic changes associated with certain devastating pediatric conditions. The initiative will develop a centralized database of well-curated clinical and genetic sequence data from childhood cancer and structural birth defects cohorts comprising thousands of patients and their families. To learn more about the initiative and the data available, please visit https://commonfund.nih.gov/kidsfirst

Stillbirth and neonatal death rates across time: the influence of pregnancy terminations and birth defects in a Western Australian population-based cohort study.

PubMed

Farrant, Brad M; Stanley, Fiona J; Hardelid, Pia; Shepherd, Carrington C J

2016-05-17

The stillbirth rate in most high income countries reduced in the early part of the 20(th) century but has apparently been static over the past 2½ decades. However, there has not been any account taken of pregnancy terminations and birth defects on these trends. The current study sought to quantify these relationships using linked Western Australian administrative data for the years 1986-2010. We analysed a retrospective, population-based cohort of Western Australia births from 1986 to 2010, with de-identified linked data from core population health datasets. The study revealed a significant decrease in the neonatal death rate from 1986 to 2010 (6.1 to 2.1 neonatal deaths per 1000 births; p < .01), while the overall stillbirth rate remained static. The stillbirth trend was driven by deaths in the extremely preterm period (20-27 weeks; which account for about half of all recorded stillbirths and neonatal deaths), masking significant decreases in the rate of stillbirth at very preterm (28-31 weeks), moderate to late preterm (32-36 weeks), and term (37+ weeks). For singletons, birth defects made up an increasing proportion of stillbirths and decreasing proportion of neonatal deaths over the study period-a shift that appears to have been largely driven by the increase in late pregnancy terminations (20 weeks or more gestation). After accounting for pregnancy terminations, we observed a significant downward trend in stillbirth and neonatal death rates at every gestational age. Changes in clinical practice related to pregnancy terminations have played a substantial role in shaping stillbirth and neonatal death rates in Western Australia over the 2½ decades to 2010. The study underscores the need to disaggregate perinatal mortality data in order to support a fuller consideration of the influence of pregnancy terminations and birth defects when assessing change over time in the rates of stillbirth and neonatal death.

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.

PubMed

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.

Impact of fetal alcohol exposure on body systems: A systematic review.

PubMed

Caputo, Courtney; Wood, Erin; Jabbour, Leila

2016-06-01

Review of published manuscripts on fetal alcohol exposure on several body systems. Articles in this review were found online using databases such as Medline, Medline Complete, PubMed, and Health Source: Nursing/Academic Edition. The following terms were searched: fetal alcohol spectrum disorders, fetal alcohol syndrome, prenatal alcohol exposure, and alcohol related birth defects. Thirteen articles were gathered, five original investigations and eight reviews. This review identified several abnormalities in the body systems discussed and their associations to fetal alcohol syndrome. Evidence shows that the brain was the most severely impacted organ of the body systems discussed. However, prenatal alcohol exposure causes several abnormalities within the heart, kidney, liver, gastrointestinal tract, and the endocrine systems. In addition, preventative measures need to be taken by mothers during pregnancy. Birth Defects Research (Part C), 2016. © 2016 Wiley Periodicals, Inc. Birth Defects Research (Part C) 108:174-180, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Congenital Abnormalities: Consequence of Maternal Zika Virus Infection: A Narrative Review.

PubMed

Hassan, Fatima I; Niaz, Kamal; Maqbool, Faheem; Khan, Fazlullah; Abdollahi, Mohammad

2017-01-01

Zika virus (ZIKV) is a deadly flavivirus that has spread from Africa to Asia and European countries. The virus is associated with other viruses in the same genus or family, transmitted by the same mosquito species with known history of fatality. A sudden increase in the rate of infection from ZIKV has made it a global health concern, which necessitates close symptom monitoring, enhancing treatment options, and vaccine production. This paper reviewed current reports on birth defects associated with ZIKV, mode of transmission, body fluids containing the virus, diagnosis, possible preventive measures or treatments, and vaccine development. Google scholar was used as the major search engine for research and review articles, up to July, 2016. Search terms such as "ZIKV", "ZIKV infection", "ZIKV serotypes", "treatment of ZIKV infection", "co-infection with zika virus", "flavivirus", "microcephaly and zika", "birth defects and Zika", as well as "ZIKV vaccine" were used. ZIKV has been detected in several body fluids such as saliva, semen, blood, and amniotic fluid. This reveals the possibility of sexual and mother to child transmission. The ability of the virus to cross the placental barrier and the blood brain barrier (BBB) has been associated with birth defects such as microcephaly, ocular defects, and Guillian Barre syndrome (GBS). Preventive measures can reduce the spread and risk of the infection. Available treatments only target symptoms while vaccines are still under development. Birth defects are associated with ZIKV infection in pregnant women; hence the need for development of standard treatments, employment of strict preventive measures and development of effective vaccines. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Prenatal care in your first trimester

MedlinePlus

... for birth defects and genetic problems, such as Down syndrome or brain and spinal column defects. If your ... if the baby is at risk for having Down syndrome. If a test called a quadruple screen is ...

When Your Baby Has a Birth Defect

MedlinePlus

... as heart defects, cleft lip and palate, or cerebral palsy. Still, you may find yourself being both the ... the NICU Gene Therapy and Children Down Syndrome Cerebral Palsy Spina Bifida Prenatal Genetic Counseling What Is a ...

Genetics Home Reference: abdominal wall defect

MedlinePlus

... 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) ...

Prenatal metal exposure in the Middle East: imprint of war in deciduous teeth of children.

PubMed

Savabieasfahani, M; Ali, S Sadik; Bacho, R; Savabi, O; Alsabbak, M

2016-09-01

In war zones, the explosion of bombs, bullets, and other ammunition releases multiple neurotoxicants into the environment. The Middle East is currently the site of heavy environmental disruption by massive bombardments. A very large number of US military bases, which release highly toxic environmental contaminants, have also been erected since 2003. Current knowledge supports the hypothesis that war-created pollution is a major cause of rising birth defects and cancers in Iraq. We created elemental bio-imaging of trace elements in deciduous teeth of children with birth defects from Iraq. Healthy and naturally shed teeth from Lebanon and Iran were also analyzed for trace elements. Lead (Pb) was highest in teeth from children with birth defects who donated their teeth from Basra, Iraq (mean 0.73-16.74 (208)Pb/(43)Ca ppm, n = 3). Pb in healthy Lebanese and Iranian teeth were 0.038-0.382 (208)Pb/(43)Ca ppm (n = 4) and 0.041-0.31 (208)Pb/(43)Ca ppm (n = 2), respectively. Our hypothesis that increased war activity coincides with increased metal levels in deciduous teeth is confirmed by this research. Lead levels were similar in Lebanese and Iranian deciduous teeth. Deciduous teeth from Iraqi children with birth defects had remarkably higher levels of Pb. Two Iraqi teeth had four times more Pb, and one tooth had as much as 50 times more Pb than samples from Lebanon and Iran.

Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis.

PubMed

Blencowe, Hannah; Kancherla, Vijaya; Moorthie, Sowmiya; Darlison, Matthew W; Modell, Bernadette

2018-02-01

Neural tube defects (NTDs) are associated with substantial mortality, morbidity, disability, and psychological and economic costs. Many are preventable with folic acid, and access to appropriate services for those affected can improve survival and quality of life. We used a compartmental model to estimate global and regional birth prevalence of NTDs (live births, stillbirths, and elective terminations of pregnancy) and subsequent under-5 mortality. Data were identified through web-based reviews of birth defect registry databases and systematic literature reviews. Meta-analyses were undertaken where appropriate. For 2015, our model estimated 260,100 (uncertainty interval (UI): 213,800-322,000) NTD-affected birth outcomes worldwide (prevalence 18.6 (15.3-23.0)/10,000 live births). Approximately 50% of cases were elective terminations of pregnancy for fetal anomalies (UI: 59,300 (47,900-74,500)) or stillbirths (57,800 (UI: 35,000-88,600)). Of NTD-affected live births, 117,900 (∼75%) (UI: 105,500-186,600) resulted in under-5 deaths. Our systematic review showed a paucity of high-quality data in the regions of the world with the highest burden. Despite knowledge about prevention, NTDs remain highly prevalent worldwide. Lack of surveillance and incomplete ascertainment of affected pregnancies make NTDs invisible to policy makers. Improved surveillance of all adverse outcomes is needed to improve the robustness of total NTD prevalence estimation, evaluate effectiveness of prevention through folic acid fortification, and improve outcomes through care and rehabilitation. © 2018 The Authors. Annals of the New York Academy of Sciences published by Wiley Periodicals Inc. on behalf of New York Academy of Sciences.

Maternal occupational exposure to polycyclic aromatic hydrocarbons and congenital heart defects among offspring in the national birth defects prevention study.

PubMed

Lupo, Philip J; Symanski, Elaine; Langlois, Peter H; Lawson, Christina C; Malik, Sadia; Gilboa, Suzanne M; Lee, Laura J; Agopian, A J; Desrosiers, Tania A; Waters, Martha A; Romitti, Paul A; Correa, Adolfo; Shaw, Gary M; Mitchell, Laura E

2012-11-01

There is evidence in experimental model systems that exposure to polycyclic aromatic hydrocarbons (PAHs) results in congenital heart defects (CHDs); however, to our knowledge, this relationship has not been examined in humans. Therefore, we conducted a case-control study assessing the association between estimated maternal occupational exposure to PAHs and CHDs in offspring. Data on CHD cases and control infants were obtained from the National Birth Defects Prevention Study for the period of 1997 to 2002. Exposure to PAHs was assigned by industrial hygienist consensus, based on self-reported maternal occupational histories from 1 month before conception through the third month of pregnancy. Logistic regression was used to evaluate the association between maternal occupational PAH exposure and specific CHD phenotypic subtypes among offspring. The prevalence of occupational PAH exposure was 4.0% in CHD case mothers (76/1907) and 3.6% in control mothers (104/2853). After adjusting for maternal age, race or ethnicity, education, smoking, folic acid supplementation, and study center, exposure was not associated with conotruncal defects (adjusted odds ratio [AOR], 0.98; 95% confidence interval [CI], 0.58-1.67), septal defects (AOR, 1.28; 95% CI, 0.86-1.90), or with any isolated CHD subtype. Our findings do not support an association between potential maternal occupational exposure to PAHs and various CHDs in a large, population-based study. For CHD phenotypic subtypes in which modest nonsignificant associations were observed, future investigations could be improved by studying populations with a higher prevalence of PAH exposure and by incorporating information on maternal and fetal genotypes related to PAH metabolism. Birth Defects Research (Part A), 2012. Copyright © 2012 Wiley Periodicals, Inc.

Federal Protection for Human Research Subjects: An Analysis of the Common Rule and Its Interactions with FDA Regulations and the HIPAA Privacy Rule

DTIC Science & Technology

2005-06-02

the interaction of the Privacy Rule and FDA regulations with the Common Rule. Appendix B CRS-12 20 Phocomelia Syndrome is a birth defect that may...linked to the birth defect phocomelia .20 ! Congress enacts the Drug Amendments of 1962 (P.L. 87-781), requiring researchers to obtain subjects...information about Phocomelia Syndrome, see [http://my.webmd.com/hw/health_guide_atoz/nord780.asp], visited Apr. 11, 2005. 178 Section 505(i) of the Food

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

PubMed

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.

Transmembrane voltage potential controls embryonic eye patterning in Xenopus laevis

PubMed Central

Pai, Vaibhav P.; Aw, Sherry; Shomrat, Tal; Lemire, Joan M.; Levin, Michael

2012-01-01

Uncovering the molecular mechanisms of eye development is crucial for understanding the embryonic morphogenesis of complex structures, as well as for the establishment of novel biomedical approaches to address birth defects and injuries of the visual system. Here, we characterize change in transmembrane voltage potential (Vmem) as a novel biophysical signal for eye induction in Xenopus laevis. During normal embryogenesis, a striking hyperpolarization demarcates a specific cluster of cells in the anterior neural field. Depolarizing the dorsal lineages in which these cells reside results in malformed eyes. Manipulating Vmem of non-eye cells induces well-formed ectopic eyes that are morphologically and histologically similar to endogenous eyes. Remarkably, such ectopic eyes can be induced far outside the anterior neural field. A Ca2+ channel-dependent pathway transduces the Vmem signal and regulates patterning of eye field transcription factors. These data reveal a new, instructive role for membrane voltage during embryogenesis and demonstrate that Vmem is a crucial upstream signal in eye development. Learning to control bioelectric initiators of organogenesis offers significant insight into birth defects that affect the eye and might have significant implications for regenerative approaches to ocular diseases. PMID:22159581

The quick and the dead: microbial demography at the yeast thermal limit.

PubMed

Maxwell, Colin S; Magwene, Paul M

2017-03-01

The niche of microorganisms is determined by where their populations can expand. Populations can fail to grow because of high death or low birth rates, but these are challenging to measure in microorganisms. We developed a novel technique that enables single-cell measurement of age-structured birth and death rates in the budding yeast, Saccharomyces cerevisiae, and used this method to study responses to heat stress in a genetically diverse panel of strains. We find that individual cells show significant heterogeneity in their rates of birth and death during heat stress. Genotype-by-environment effects on processes that regulate asymmetric cell division contribute to this heterogeneity. These lead to either premature senescence or early life mortality during heat stress, and we find that a mitochondrial inheritance defect explains the early life mortality phenotype of one of the strains we studied. This study demonstrates how the interplay of physiology, genetic variation and environmental variables influence where microbial populations survive and flourish. © 2016 John Wiley & Sons Ltd.

Traveler's guide to avoiding infectious diseases

MedlinePlus

... other birth defects. Zika can spread from a mother to her baby in the uterus (in utero) or at the time of birth. A man with Zika can spread the disease to his sex partners. There have been reports of Zika spreading ...

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wrensch, M.; Swan, S.H.; Lipscomb, J.

We recently studied pregnancies occurring during 1980-1985 in four study areas in Santa Clara County, California. Two of the areas were exposed to solvent-contaminated drinking water during 1980 and 1981, and two were unexposed. There was an overall excess of spontaneous abortions among women who reported any tapwater consumption during the first trimester of pregnancy compared with those who reported no tapwater consumption (odds ratio (OR) = 4.0; 95% confidence interval (CI) = 1.8-9.1), regardless of exposure to the contaminated water. The odds ratio for spontaneous abortion for women reporting any vs no tapwater was 6.9 (95% CI = 2.7-17.7)more » after adjustment for numerous potential confounders using multiple logistic regression analyses. The elevated odds ratio of spontaneous abortion was seen among tapwater drinkers who used no filters or softener-type filters but not among women who reported use of active filters. Spontaneous abortion rates were reduced in women who reported any vs no bottled water consumption (OR = 0.26; 95% CI = 0.16-0.43). Among women who reported no tapwater consumption, no birth defects occurred among 263 live births; in comparison, among women who reported tapwater consumption, 4% of 908 live births had defects (P = 0.0001). We observed no relation between birth defects and bottled water use.« less

Rare copy number variants in a population-based investigation of hypoplastic right heart syndrome.

PubMed

Dimopoulos, Aggeliki; Sicko, Robert J; Kay, Denise M; Rigler, Shannon L; Druschel, Charlotte M; Caggana, Michele; Browne, Marilyn L; Fan, Ruzong; Romitti, Paul A; Brody, Lawrence C; Mills, James L

2017-01-20

Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20 Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database. We identified 28 CNVs in 17 cases; several encompassed genes important for right heart development. One case had a 2p16-2p23 duplication spanning LBH, a limb and heart development transcription factor. Lbh mis-expression results in right ventricular hypoplasia and pulmonary valve defects. This duplication also encompassed SOS1, a factor associated with pulmonary valve stenosis in Noonan syndrome. Sos1 -/- mice display thin and poorly trabeculated ventricles. In another case, we identified a 1.5 Mb deletion associated with Williams-Beuren syndrome, a disorder that includes valvular malformations. A third case had a 24 Kb deletion upstream of the TGFβ ligand ITGB8. Embryos genetically null for Itgb8, and its intracellular interactant Band 4.1B, display lethal cardiac phenotypes. To our knowledge, this is the first study of CNVs in HRHS. We identified several rare CNVs that overlap genes related to right ventricular wall and valve development, suggesting that genetics plays a role in HRHS and providing clues for further investigation. Birth Defects Research 109:16-26, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Despite court ruling, experts insist spermicides are safe.

PubMed

1985-03-01

Recently in Atlanta, Georgia, a US District Judge, Marvin Shoob, ordered Ortho Pharmaceutical Corporation to pay US$5.1 million in damages to a 3 year old girl, born with birth defects to a women who used a spermicide, manufactured by Ortho, when the child was conceived and for 4 weeks following conception. The child was born with a missing left arm, missing fingers on the right hand, a cleft palate, and impaired hearing. The spermicide, Ortho-Gynol, contains octoxynol, which prevents pregnancy by destroying the outer layer of sperm cells. The judge maintained that Ortho was negligent for failing to attach a label to the spermicide warning users that birth defects could occur if the product was used during pregnancy. In 1983, a Food and Drug Administration (FDA) advisory committee advised drug companies that is was unnecessary to attach such a label. The chairman of the committee, Ronald W. Nelson, still maintains that a warning label is unwarrented. "Contraceptive Technology Update" spoke with a number of family planning practitioners and several experts, including some who were involved in the case, concerning their views about the case. Most of the partitioners expressed surprise about the ruling, indicated that they did not plan to alter their counseling advise concerning spermicides, and believed that a warning label was not warranted. A representative for Ortho stated that the company still believes that there is no link between birth defects and the use of spermicides. Ortho does not plan to use a warning label. A spokesman from the judge's office said that the ruling pertained only to the specific case, and that the decision was not generalizable. Robert L. Brent, an expert witness for Ortho said that studies failed to find a significant association between birth defects and spermicides; however, he noted that researchers did not rule out the possibility that there was a slightly increased risk of birth defects among infants born to women who used spermicides. Bruce Buehler, an expert witness for the plaintiff, said that there was a probable link between the spermicide and the missing arm defect and a possible link between the spermicide and the missing fingers. He said that the damage probably occurred at some crucial developmental stage during the 4 weeks following conception rather than at the time of conception. A proponent for labeling is Herschel Jick. He and his colleagues conducted a study in 1981 of 763 women, who had prescriptions for spermicides filled within 600 days of pregnancy outcome, and of 3902 nonusers. 2.2% of the users, compared to 1.1% of the nonusers gave birth to infants with birth defects. The study has been criticized by experts for failing to isolate a well-defined syndrome among infants born to spermicide users and for failing to determine if and when those identified as users actually did use the prescribed spermicides. Jose Cordero of the Center for Disease Control noted that the Center does not have an official position concerning the issue, but that he did not feel that the evidence was strong enough to support claims of an association.

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

PubMed Central

Mao, Baohong; Qiu, Jie; Zhao, Nan; Shao, Yawen; Dai, Wei; He, Xiaochun; Cui, Hongmei; Lin, Xiaojuan; Lv, Ling; Tang, Zhongfeng; Xu, Sijuan; Huang, Huang; Zhou, Min; Xu, Xiaoying; Qiu, Weitao

2017-01-01

Background 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. Methods 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. Results 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. Conclusions 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. PMID:29145433

Fumonisins

USDA-ARS?s Scientific Manuscript database

Fumonisins are fungal toxins found in corn and in foods made from corn. Fumonisins are toxic to animals but their impact on human health is uncertain. Epidemiological evidence suggests that fumonisins may be risk factors for birth defects known as neural tube defects (NTDs) and for growth retardat...

Maternal hypertension and risk for hypospadias in offspring.

PubMed

Agopian, A J; Hoang, Thanh T; Mitchell, Laura E; Morrison, Alanna C; Tu, Duong; Nassar, Natasha; Canfield, Mark A

2016-12-01

Hypospadias is one of the most common birth defects in male infants. Maternal hypertension is a suspected risk factor; however, few previous studies have addressed the possibility of reporting bias, and several previous studies have not accounted for hypospadias severity. We analyzed data from the Texas Birth Defects Registry for 10,924 nonsyndromic cases and statewide vital records for deliveries during 1999-2009, using Poisson regression. After adjustment for potential confounders, hypospadias was associated with maternal hypertension (adjusted prevalence ratio: 1.5, 95% confidence interval: 1.4-1.7). Similar associations were observed with gestational and pregestational hypertension, including separate analyses restricted to the subset of cases with severe (second- or third-degree) hypospadias. All of these associations were also similar among the subset of cases with isolated hypospadias (without additional birth defects). To evaluate the potential for bias due to potential hypertension misclassification, we repeated our analyses using logistic regression, comparing the cases to controls with other birth defects. In these analyses, the associations with gestational hypertension were similar, but adjusted associations with pregestational hypertension were no longer observed. Our findings support an association between gestational hypertension and hypospadias in offspring, but also suggest that previously observed associations with pregestational hypertension may have been inflated due to differential misclassification of hypertension (e.g., reporting bias). As gestational hypertension is recognized after hypospadias development, more research is needed to determine if this association reflects an increase in gestational hypertension risk secondary to hypospadias or if both conditions have shared risk factors (e.g., precursors of gestational hypertension). © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Does maternal exposure to benzene and PM10 during pregnancy increase the risk of congenital anomalies? A population-based case-control study

PubMed Central

Vinceti, Marco; Malagoli, Carlotta; Malavolti, Marcella; Cherubini, Andrea; Maffeis, Giuseppe; Rodolfi, Rossella; Heck, Julia E.; Astolfi, Gianni; Calzolari, Elisa; Nicolini, Fausto

2015-01-01

A few studies have suggested an association between maternal exposure to ambient air pollution from vehicular traffic and risk of congenital anomalies in the offspring, but epidemiologic evidence is neither strong nor entirely consistent. In a population-based case-control study in a Northern Italy community encompassing 228 cases of birth defects and 228 referent newborns, we investigated if maternal exposure to PM10 and benzene from vehicular traffic during early pregnancy, as estimated through a dispersion model, was associated with excess teratogenic risk. In conditional logistic regression analysis, and with adjustment for the other pollutant, we found that higher exposure to PM10 but not benzene was associated with increased risk of birth defects overall. Anomaly categories showing the strongest dose-response relation with PM10 exposure were musculoskeletal and chromosomal abnormalities but not cardiovascular defects, with Down syndrome being among the specific abnormalities showing the strongest association, though risk estimates particularly for the less frequent defects were statistically very unstable. Further adjustment in the regression model for potential confounders did not considerably alter the results. All the associations were stronger for average levels of PM10 than for their maximal level. Findings of this study give some support for an excess teratogenic risk following maternal exposure during pregnancy to PM10, but not benzene. Such association appears to be limited to some birth defect categories. PMID:26410719

Maternal psychological stress-induced developmental disability, neonatal mortality and stillbirth in the offspring of Wistar albino rats

PubMed Central

Govindaraj, Sakthivel; Shanmuganathan, Annadurai; Rajan, Ravindran

2017-01-01

Background Stress is an inevitable part of life, and maternal stress during the gestational period has dramatic effects in the early programming of the physiology and behavior of offspring. The developmental period is crucial for the well-being of the offspring. Prenatal stress influences the developmental outcomes of the fetus, in part because the developing brain is particularly vulnerable to stress. The etiology of birth defects of the offspring is reported to be 30–40% genetic and 7–10% multifactorial, with the remaining 50% still unknown and also there is no clear cause for neonatal mortality and still-birth. Objective The present study explores the association of maternal psychological stress on mother and the offspring’s incidence of birth defects, stillbirth, and neonatal mortality. Study design Pregnant animals were restrained to induce psychological stress (3 times per day, 45 minutes per session). Except control group, other animals were exposed to restraint stress during the gestational period: early gestational stress (EGS, stress exposure during 1st day to 10th days of gestational period), late gestational stress (LGS, stress exposure during 11th day to till parturition), and full term gestational stress (FGS, stress exposure to the whole gestational period). The effects of maternal stress on the mother and their offspring were analyzed. Results Expectant female rats exposed to stress by physical restraint showed decreased body weight gain, food intake, and fecal pellet levels. Specifically, the offspring of female rats subjected to late gestational and full term gestational restraint stress showed more deleterious effects, such as physical impairment (LGS 24.44%, FGS 10%), neonatal mortality (EGS 2.56%, LGS 24.44%, FGS 17.5%), stillbirths (FGS 27.5%), low birth weight (EGS 5.42g, LGS 4.40g, FGS 4.12g), preterm births (EGS 539 Hrs, LGS 514 Hrs, FGS 520.6 Hrs), and delayed eyelid opening (EGS 15.16 Days, LGS 17 Days, FGS 17.67 Days). Conclusion The results of this study reveal that maternal stress may be associated with the offspring’s abnormal structural phenotyping, preterm birth, stillbirth and neonatal mortality. PMID:28222133

PRELIMINARY EXPLORATION OF FACTORS THAT MAY INFLUENCE THE ASSOCIATION BETWEEN AIR QUALITY AND THE RISK OF CARDIAC VENTRICULAR SEPTAL DEFECTS, TEXAS, 2000

EPA Science Inventory

Exposure to sulfur dioxide (SO2) during weeks three through eight of pregnancy increased risk for ventricular septal defects in a population-based case-control study of air quality and birth defects in seven Texas counties between 1997 and 2000. As a follow-back, a computer-assi...

Congenital Abnormalities and Hepatoblastoma: A Report from the Children’s Oncology Group (COG) and the Utah Population Database (UPDB)

PubMed Central

Venkatramani, Rajkumar; Spector, Logan G.; Georgieff, Michael; Tomlinson, Gail; Krailo, Mark; Malogolowkin, Marcio; Kohlmann, Wendy; Curtin, Karen; Fonstad, Rachel K.; Schiffman, Joshua D.

2014-01-01

Beckwith-Wiedemann Syndrome (BWS) and Familial Adenomatous Polyposis (FAP) are known to predispose to hepatoblastoma (HB). A case control study was conducted through the Children’s Oncology Group (COG) to study the association of HB with isolated congenital abnormalities. Cases (N = 383) were diagnosed between 2000 and 2008. Controls (N = 387) were recruited from state birth registries, frequency matched for sex, region, year of birth, and birth weight. Data on congenital abnormalities among subjects and covariates were obtained by maternal telephone interview. Odds ratios (OR) and 95% confidence intervals (CI) describing the association between congenital abnormalities with HB, adjusted for sex, birth weight, maternal age and maternal education, were calculated using unconditional logistic regression. There was a significant association of HB with kidney, bladder, or sex organ abnormalities (OR = 4.75; 95% CI: 1.74–13) which appeared to be specific to kidney/bladder defects (OR = 4.3; 95% CI: 1.2–15.3) but not those of sex organs (OR = 1.24; 95% CI: 0.37–4.1). Elevated but non-significant ORs were found for spina bifida or other spinal defects (OR = 2.12; 95% CI: 0.39–11.7), large or multiple birthmarks (OR = 1.33; 95% CI: 0.81–2.21). The results were validated through the Utah Population Database (UPDB), a statewide population-based registry linking birth certificates, medical records, and cancer diagnoses. In the UPDB, there were 29 cases and 290 population controls matched 10:1 on sex and birth year. Consistent with the COG findings, kidney/bladder defects were associated with hepatoblastoma. These results confirm the association of HB with kidney/bladder abnormalities. PMID:24934283

Heterogeneous Contribution of Insulin Sensitivity and Secretion Defects to Gestational Diabetes Mellitus

PubMed Central

Powe, Camille E.; Allard, Catherine; Battista, Marie-Claude; Doyon, Myriam; Bouchard, Luigi; Ecker, Jeffrey L.; Perron, Patrice; Florez, Jose C.; Thadhani, Ravi

2016-01-01

OBJECTIVE To characterize physiologic subtypes of gestational diabetes mellitus (GDM). RESEARCH DESIGN AND METHODS Insulin sensitivity and secretion were estimated in 809 women at 24–30 weeks' gestation, using oral glucose tolerance test–based indices. In women with GDM (8.3%), defects in insulin sensitivity or secretion were defined below the 25th percentile in women with normal glucose tolerance (NGT). GDM subtypes were defined based on the defect(s) present. RESULTS Relative to women with NGT, women with predominant insulin sensitivity defects (51% of GDM) had higher BMI and fasting glucose, larger infants (birth weight z score 0.57 [−0.01 to 1.37] vs. 0.03 [−0.53 to 0.52], P = 0.001), and greater risk of GDM-associated adverse outcomes (57.6 vs. 28.2%, P = 0.003); differences were independent of BMI. Women with predominant insulin secretion defects (30% of GDM) had BMI, fasting glucose, infant birth weights, and risk of adverse outcomes similar to those in women with NGT. CONCLUSIONS Heterogeneity of physiologic processes underlying hyperglycemia exists among women with GDM. GDM with impaired insulin sensitivity confers a greater risk of adverse outcomes. PMID:27208340

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

PubMed Central

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

2016-01-01

Background 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. Methods 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. Results 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. Conclusions Our findings augment existing literature on occupational physical activities, sedentary behaviors, emotional stressors, and occupational health disparities during pregnancy. PMID:26681357

Primary prevention of neural-tube defects and some other congenital abnormalities by folic acid and multivitamins: history, missed opportunity and tasks

PubMed Central

Bártfai, Zoltán; Bánhidy, Ferenc

2011-01-01

The history of intervention trials of periconception folic acid with multivitamin and folic acid supplementation in women has shown a recent breakthrough in the primary prevention of structural birth defects, namely neural-tube defects and some other congenital abnormalities. Recently, some studies have demonstrated the efficacy of this new method in reducing congenital abnormalities with specific origin; for example, in the offspring of diabetic and epileptic mothers, and in pregnancy with high fever. The benefits and drawbacks of four possible uses of periconception folate/folic acid and multivitamin supplementation are discussed: we believe there has been a missed opportunity to implement this preventive approach in medical practice. The four methods are as follows: (i) dietary intake of folate and other vitamins, (ii) periconception folic acid/multivitamin supplementation, (iii) food fortification with folic acid, and (iv) the combination of oral contraceptives with 6S-5-methytetrahydrofolate (‘folate’). PMID:25083211

Comprehensive assessment of a chlorinated drinking water concentrate in a rat multigenerational reproductive toxicity study

EPA Science Inventory

Some epidemiological studies report associations between drinking water disinfection by-products (DBPs) and adverse reproductive and developmental effects, e.g., low birth weight, spontaneous abortion, stillbirth, and birth defects. To address concerns raised by these studies, w...

Comprehensive Assessment of a Chlorinated Drinking Water Concentrate in a Rat Multigenerational Reproductive Toxicity Study##

EPA Science Inventory

Some epidemiological studies report associations between drinking water disinfection by-products (DBPs) and adverse reproductive and developmental effects, e.g., low birth weight, spontaneous abortion, stillbirth, and birth defects. To address concerns raised by these studies, w...

The old and new face of craniofacial research: How animal models inform human craniofacial genetic and clinical data.

PubMed

Van Otterloo, Eric; Williams, Trevor; Artinger, Kristin Bruk

2016-07-15

The craniofacial skeletal structures that comprise the human head develop from multiple tissues that converge to form the bones and cartilage of the face. Because of their complex development and morphogenesis, many human birth defects arise due to disruptions in these cellular populations. Thus, determining how these structures normally develop is vital if we are to gain a deeper understanding of craniofacial birth defects and devise treatment and prevention options. In this review, we will focus on how animal model systems have been used historically and in an ongoing context to enhance our understanding of human craniofacial development. We do this by first highlighting "animal to man" approaches; that is, how animal models are being utilized to understand fundamental mechanisms of craniofacial development. We discuss emerging technologies, including high throughput sequencing and genome editing, and new animal repository resources, and how their application can revolutionize the future of animal models in craniofacial research. Secondly, we highlight "man to animal" approaches, including the current use of animal models to test the function of candidate human disease variants. Specifically, we outline a common workflow deployed after discovery of a potentially disease causing variant based on a select set of recent examples in which human mutations are investigated in vivo using animal models. Collectively, these topics will provide a pipeline for the use of animal models in understanding human craniofacial development and disease for clinical geneticist and basic researchers alike. Copyright © 2016 Elsevier Inc. All rights reserved.

Magnetic resonance imaging study of eye congenital birth defects in mouse model

PubMed Central

Tucker, Zachary; Mongan, Maureen; Meng, Qinghang; Xia, Ying

2017-01-01

Purpose Embryonic eyelid closure is a well-documented morphogenetic episode in mammalian eye development. Detection of eyelid closure defect in humans is a major challenge because eyelid closure and reopen occur entirely in utero. As a consequence, congenital eye defects that are associated with failure of embryonic eyelid closure remain unknown. To fill the gap, we developed a mouse model of defective eyelid closure. This preliminary work demonstrates that the magnetic resonance imaging (MRI) approach can be used for the detection of extraocular muscle abnormalities in the mouse model. Methods Mice with either normal (Map3k1+/−) or defective (Map3k1−/−) embryonic eyelid closure were used in this study. Images of the extraocular muscles were obtained with a 9.4 T high resolution microimaging MRI system. The extraocular muscles were identified, segmented, and measured in each imaging slice using an in-house program. Results In agreement with histological findings, the imaging data show that mice with defective embryonic eyelid closure develop less extraocular muscle than normal mice. In addition, the size of the eyeballs was noticeably reduced in mice with defective embryonic eyelid closure. Conclusions We demonstrated that MRI can potentially be used for the study of extraocular muscle in the mouse model of the eye open-at-birth defect, despite the lack of specificity of muscle group provided by the current imaging resolution. PMID:28848319

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

PubMed Central

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

Maternal Antihypertensive Medication Use and Congenital Heart Defects: Updated Results From the National Birth Defects Prevention Study.

PubMed

Fisher, Sarah C; Van Zutphen, Alissa R; Werler, Martha M; Lin, Angela E; Romitti, Paul A; Druschel, Charlotte M; Browne, Marilyn L

2017-05-01

Previous NBDPS (National Birth Defects Prevention Study) findings from 1997 to 2003 suggested that maternal antihypertensive use was associated with congenital heart defects (CHDs). We re-examined associations between specific antihypertensive medication classes and specific CHDs with additional NBDPS data from 2004 to 2011. After excluding mothers missing hypertension information or who reported pregestational diabetes mellitus, a multiple birth, or antihypertensive use but no hypertension, we compared self-reported maternal exposure data on 10 625 CHD cases and 11 137 nonmalformed controls. We calculated adjusted odds ratios [95% confidence intervals] to estimate the risk of specific CHDs associated with antihypertensive use during the month before conception through the third month of pregnancy, controlling for maternal age, race/ethnicity, body mass index, first trimester cigarette smoking, and NBDPS site. Overall, 164 (1.5%) case mothers and 102 (0.9%) control mothers reported early pregnancy antihypertensive use for their hypertension. We observed increased risk of 4 CHD phenotypes, regardless of antihypertensive medication class reported: coarctation of the aorta (2.50 [1.52-4.11]), pulmonary valve stenosis (2.19 [1.44-3.34]), perimembranous ventricular septal defect (1.90 [1.09-3.31]), and secundum atrial septal defect (1.94 [1.36-2.79]). The associations for these phenotypes were statistically significant for mothers who reported β-blocker use or renin-angiotensin system blocker use; estimates for other antihypertensive medication classes were generally based on fewer exposed cases and were less stable but remained elevated. Our results support and expand on earlier NBDPS findings that antihypertensive medication use may be associated with increased risk of specific CHDs, although we cannot completely rule out confounding by underlying disease characteristics. © 2017 American Heart Association, Inc.

in vitro Models if Human Embryonic Mesenchymal Transitions in Morphogenesis

EPA Science Inventory

Our ability to predict human developmental consequences produced by exposure to environmental chemicals is limited by the current experimental and computational models.Human heart defects are among the most common type of birth defects and affect 1% of children (~40,000 children)...

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

PubMed

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.

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

PubMed

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.

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.

PubMed

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.

Pregnancy outcome after first trimester use of angiotensin AT1 receptor blockers: an observational cohort study.

PubMed

Hoeltzenbein, Maria; Tissen-Diabaté, Tatjana; Fietz, Anne-Katrin; Zinke, Sandra; Kayser, Angela; Meister, Reinhard; Weber-Schoendorfer, Corinna; Schaefer, Christof

2018-03-24

Ongoing discussion about the safety of renin-angiotensin inhibitors in the first trimester and limited data on pregnancy outcomes after exposure to angiotensin AT1 receptor blockers (ARBs). Observational cohort study compares outcomes of 215 prospectively ascertained pregnancies with first trimester exposure to ARBs with 642 non-hypertensive pregnancies. The rate of major birth defects in the ARB cohort (9/168, 5.4%) was higher than in the comparison group (17/570, 3%), but not significantly increased (OR adj 1.9, 95% CI 0.7-4.9). There was no distinct pattern of anomalies among infants with birth defects. The risk of spontaneous abortions was not increased (HR adj 0.9, 95% CI 0.5-1.6), although the cumulative incidence was in the upper normal range (0.22, 95% CI 0.15-0.32). Higher rates of prematurity (OR adj 3.0; 95% CI 1.7-5.1) and a reduced birth weight after adjustment for sex and gestational age were observed. There was no evidence for an increased risk for major birth defects, spontaneous abortions, or preterm birth in a sensitivity analysis comparing ARB exposed hypertensive women to hypertensive women without ARB exposure during the first trimester. Our study supports the hypothesis that ARBs are not major teratogens. Patients inadvertently exposed to ARBs during the early pregnancy may be reassured. Nevertheless, women planning pregnancy should avoid ARBs. In selected cases, ARBs might be continued under careful monitoring of menstrual cycle and discontinued as soon as pregnancy is recognized.

The role of folate metabolism in orofacial development and clefting

PubMed Central

Wahl, Stacey E.; Kennedy, Allyson E.; Wyatt, Brent H.; Moore, Alexander D.; Pridgen, Deborah E.; Cherry, Amanda M.; Mavila, Catherine B.; Dickinson, Amanda J.G.

2015-01-01

Folate deficiency has been associated with numerous diseases and birth defects including orofacial defects. However, whether folate has a role in the face during early orofacial development has been unclear. The present study reveals that pharmacological and antisense oligonucleotide mediated inhibition of DHFR, an integral enzyme in the folate pathway, results in specific changes in the size and shape of the midface and embryonic mouth. Such defects are accompanied by a severe reduction in the muscle and cartilage jaw elements without significant change in neural crest pattern or global levels of methylation. We propose that the orofacial defects associated with DHFR deficient function are the result of decreased cell proliferation and increased cell death via DNA damage. In particular, localized apoptosis may also be depleting the cells of the face that express crucial genes for the differentiation of the jaw structures. Folate supplementation is widely known to reduce human risk for orofacial clefts. In the present study, we show that activating folate metabolism can reduce median oral clefts in the primary palate by increasing cell survival. Moreover, we demonstrate that a minor decrease in DHFR function exacerbates median facial clefts caused by RAR inhibition. This work suggests that folate deficiencies could be a major contributing factor to multifactorial orofacial defects. PMID:26144049

The accuracy of ultrasound in the diagnosis of congenital abnormalities.

PubMed

Munim, Shama; Nadeem, Salva; Khuwaja, Nadya Ali

2006-01-01

To determine the accuracy of ultrasound in the diagnosis of congenital abnormalities at the Aga Khan University Hospital, Karachi. The data of congenital abnormalities was obtained from the obstetrical database and medical records of all cases complicated by congenital abnormalities, delivering from January 2001 to December 2003 and was reviewed. Antenatal ultrasounds had been performed by operators with different level of experience. In addition this data was retrieved from the termination and Congenital anomaly register. A structured data collection form was used to collect information of different variables of interest. Congenital abnormalities, complicated 2.8% (n=170), of all deliveries, including all cases of termination of pregnancy, stillbirth and live births. Out of the total, 11.6% occurred in women above the age of 35 years. Consanguinity was found in 18.2% cases. Prenatal diagnosis was made in just under half of the cases (48.8%). Central nervous system and renal abnormalities were commonly diagnosed. However, facial defects, heart defects or skeletal defects were more commonly missed. Antenatal ultrasound successfully diagnosed foetal abnormalities in 48.8% of cases, and more than 90% Central Nervous system defects and renal abnormalities. In contrast about a quarter of Cardiac defects and none of the facial defects were detected. Based on these findings we recommend that the Sonologist should incorporate four chamber view of the heart and also look at the face carefully.

Maternal caffeine intake during pregnancy and orofacial clefts.

PubMed

Collier, Sarah A; Browne, Marilyn L; Rasmussen, Sonja A; Honein, Margaret A

2009-10-01

Moderate caffeine intake during pregnancy is common, but little is known about its potential association with birth defects. The National Birth Defects Prevention Study is a population-based, case-control study of major birth defects, excluding infants with single-gene disorders and chromosomal abnormalities. This analysis includes infants with cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO), excluding infants whose cleft was secondary to holoprosencephaly or amniotic band sequence. Mothers reported dietary caffeine intake from coffee, tea, sodas, and chocolate in the year before pregnancy and reported intake of medications containing caffeine during pregnancy. We assessed the association between dietary caffeine intake, frequency of consuming each type of caffeinated beverage, medications containing caffeine, and CL/P or CPO among infants born from October 1997 through December 2004. This analysis included 1531 infants with CL/P, 813 infants with CPO, and 5711 infants with no major birth defects (controls). Examining dietary sources among control mothers, 11% reported consuming at least 300 mg of caffeine per day and 17% reported consuming less than 10 mg of caffeine per day; high consumption (>or=3 servings per day) was reported by 8% (coffee), 4% (tea), and 15% (sodas); medications containing at least 100 mg caffeine/dose were reported by less than 1%. Although some effect estimates were elevated for moderate caffeine intake from all beverages, estimates were closer to the null for high caffeine levels. Isolated CL/P was associated with use of medications containing at least 100 mg of caffeine per dose. Our data do not suggest an association between maternal dietary caffeine intake and orofacial clefts, but caffeine-containing medications merit further study.

Maternal occupational exposure to polycyclic aromatic hydrocarbons and craniosynostosis among offspring in the National Birth Defects Prevention Study.

PubMed

O'Brien, Jacqueline L; Langlois, Peter H; Lawson, Christina C; Scheuerle, Angela; Rocheleau, Carissa M; Waters, Martha A; Symanski, Elaine; Romitti, Paul A; Agopian, A J; Lupo, Philip J

2016-01-01

Evidence in animal models and humans suggests that exposure to polycyclic aromatic hydrocarbons (PAHs) may lead to birth defects. To our knowledge, this relationship has not been evaluated for craniosynostosis, a birth defect characterized by the premature closure of sutures in the skull. We conducted a case-control study to examine associations between maternal occupational exposure to PAHs and craniosynostosis. We used data from craniosynostosis cases and control infants in the National Birth Defects Prevention Study (NBDPS) with estimated delivery dates from 1997 to 2002. Industrial hygienists reviewed occupational data from the computer-assisted telephone interview and assigned a yes/no rating of probable occupational PAH exposure for each job from 1 month before conception through delivery. We used logistic regression to assess the association between occupational exposure to PAHs and craniosynostosis. The prevalence of exposure was 5.3% in case mothers (16/300) and 3.7% in control mothers (107/2,886). We observed a positive association between exposure to PAHs during the 1 month before conception through the third month of pregnancy and craniosynostosis (odds ratio [OR] = 1.75; 95% confidence interval [CI], 1.01-3.05) after adjusting for maternal age and maternal education. The number of cases for each craniosynostosis subtype limited subtype analyses to sagittal craniosynostosis; the odds ratio remained similar (OR = 1.76, 95% CI, 0.82-3.75), but was not significant. Our findings support a moderate association between maternal occupational exposure to PAHs and craniosynostosis. Additional work is needed to better characterize susceptibility and the role PAHs may play on specific craniosynostosis subtypes. © 2015 Wiley Periodicals, Inc.

Teratology in cultural documents and today.

PubMed

Schumacher, Gert-Horst

2004-12-01

Teratology is the science of congenital malformations. The incidence of birth defects amounts to 2-3%, but it doubles postnatal owing to the fact that many dysfunctions are not discernible at birth. Congenital malformations were already known in ancient cultures, records from Assyrian and Babylonian astrologists as well as from physicians and philosophers of the Hippocratic era are testifying it. In medieval times they were recognized as supernatural phenomenons, terata, from what the term TERATOLOGY derived. In the eyes of the superstitious people affected stillborns were regarded as monster, symbol of devil or miracle. The foundation of anatomy as a science by Vesalius marked the beginning of a reorientation. In the 17th century, when the age of enlightenment began, ideas concerning the origin of birth defects became more objective. Original studies dealing with congenital malformations became common in the 18th century. Fundamental discoveries made by microscopy placed Teratology on a truly scientific basis. Significant impetus was grown to teratological research with the discovery of Gregg (1941) that German measles (rubella virus) of pregnant women caused birth defects in the embryo and the contergan disaster (1959--1962). Congenital malformations originate from genetic factors (single gene defects and chromosomal aberrations) and environmental factors, such as radiation, drugs, chemicals, and infectious agents. The susceptibility of teratogen depends on the period of embryonal development, which is classified into gametogenesis, blastogenesis, embryogenesis and fetogenesis. The Food and Drug Administration of the USA published guidelines for teratogenetic testing (1966). There are in-vivo and in-vitro-test programmes, the latter became of increasing importance owing to the large number of chemicals to be tested and the activities of opponents against animal experiments. Although great advances were made, the problem remained to transfer results from in-vivo and in-vitro tests to the constitution of man without risk.

[Clinical epidemiological study of neural tube defects classified according to the five sites of closure].

PubMed

Sanchis Calvo, A; Martínez- Frías, M

2001-02-01

To identify the frequency at birth of neural tube defects (NTD) in the Spanish population. NTDs were considered as a whole as well as according to the different sites of closure failure, following the theory of multisite closure of the neural tube. To analyze the epidemiological characteristics of the different sites. Data derived from the Spanish Collaborative Study of Congenital Malformations (ECEMC), from April 1976 to March 1995. Among the 1,222,698 live births during this period, 784 infants had NTD were controlled. Among these, 784 infants had NTD. The prevalence of NTD in our population was 1.01 per 1,000 births, a frequency which is considered medium-to low. Only 5.74% of the NTD were of known etiology: 2.17% were genic, 1.27% were chromosomic and 2.29% were environmental. Excluding NTD of genetic etiology, whether genic or chromosomic, most of the remaining were isolated defects (multifactorial) and 16.78% multiple malformations. Site 1, where the closure of the neural tube starts, represented 24% of all the affected sites. However, more than 50% of the NTDs corresponded to closure failure at the junction of two sites. As in other populations with a low prevalence of NTD at birth, the prevalence of these defects in our population showed a trend to decrease with time, due to the possibility of interrupting gestation after prenatal diagnosis. All the NTD could be classified according to the theory of multisite closure of the neural tube, including 13 cases with several noncontiguous affected sites. Two types of NTD were observed: in the first, closure failed to occur and in the second, two closures failed to meet.

MafB deficiency causes defective respiratory rhythmogenesis and fatal central apnea at birth.

PubMed

Blanchi, Bruno; Kelly, Louise M; Viemari, Jean-Charles; Lafon, Isabelle; Burnet, Henri; Bévengut, Michelle; Tillmanns, Silke; Daniel, Laurent; Graf, Thomas; Hilaire, Gerard; Sieweke, Michael H

2003-10-01

The genetic basis for the development of brainstem neurons that generate respiratory rhythm is unknown. Here we show that mice deficient for the transcription factor MafB die from central apnea at birth and are defective for respiratory rhythmogenesis in vitro. MafB is expressed in a subpopulation of neurons in the preBötzinger complex (preBötC), a putative principal site of rhythmogenesis. Brainstems from Mafb(-/-) mice are insensitive to preBötC electrolytic lesion or stimulation and modulation of rhythmogenesis by hypoxia or peptidergic input. Furthermore, in Mafb(-/-) mice the preBötC, but not major neuromodulatory groups, presents severe anatomical defects with loss of cellularity. Our results show an essential role of MafB in central respiratory control, possibly involving the specification of rhythmogenic preBötC neurons.

Disruption of epithelial cell migration as a potential mechanism of cleft palate induction

EPA Science Inventory

Cleft palate occurs in about one in seven hundred births per year, making it the most prevalent craniofacial birth defect in the world. During embryonic development, tissue fusion is a critical step in the formation of the palate, cornea, urethra, and neural tube. Epithelial cell...

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

PubMed Central

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

2016-01-01

Background 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. Methods and Findings 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%). Conclusions 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. PMID:27064786

Population-based birth weight reference percentiles for Chinese twins.

PubMed

Dai, Li; Deng, Changfei; Li, Yanhua; Yi, Ling; Li, Xiaohong; Mu, Yi; Li, Qi; Yao, Qiang; Wang, Yanping

2017-09-01

Birth weight percentiles by gestational age are important for assessing prenatal growth and predicting postnatal outcomes of newborns. Several countries have developed nation-specific birth weight references for twins, but China still lacks such references. Birth weight data for twins born between October 2006 and September 2015 were abstracted from the China National Population-based Birth Defects Surveillance System. A total of 54,786 live twin births aged ≥28 weeks of gestation without birth defects were included in the analysis. The LMS method was adopted to generate gestational age-specific birth weight percentiles and curves for male and female twins separately. Significant differences were observed between the current reference and other references developed for Chinese or non-Chinese twins. The neonatal mortality rate in this cohort was 12.3‰, and much higher rates at very early gestation weeks were identified in small-for-gestational-age twins grouped by the newly developed reference cutoffs. The established birth weight centiles represent the first birth weight norm for contemporary Chinese twins and can be a useful tool to assess growth of twins in clinical and research settings. Key Messages There have been no population-based birth weight percentiles for Chinese twins prior to this study. The established birth weight centiles for female and male twins are markedly lower than those for Chinese singletons. Twin-specific curves should be used for determining inappropriate for gestational age in twins rather than using existing singleton reference. The birth weight percentiles for twins differed significantly from those for non-Chinese twins. In addition to ethnic influences, the observed differences could be ascribed to variations in prenatal care, fetal or maternal nutrition status or other environmental factors. Neonatal mortality rates varied considerably among twins grouped by the newly developed reference percentiles. Small-for-gestational-age twins had much higher mortality than did appropriate-for-gestational-age twins, highlighting the need to reduce postnatal mortality by improving perinatal health care for twins.

Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

PubMed

Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

2015-07-01

The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

Department of Defense Birth and Infant Health Registry: Birth Defects Among Infants Born to US Military Families: 2001 Annual Report

DTIC Science & Technology

2008-05-30

741.0, 741.9 w/o 740.0-740.10 Cleft palate 749.0 Encephalocele 742.0 Cleft lip with, w/o cleft palate 749.1, 749.2 Microcephalus 742.1...Estimated Rate per 1,000 Live Births Central nervous system 4.37 Eye 0.77 Ear 0.28 Heart* 12.69 Respiratory 0.35 Cleft lip / palate 1.84 Upper

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

ERIC Educational Resources Information Center

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…

Fumonisins, Tortillas and Neural Tube Defects: Untangling a Complex Issue

USDA-ARS?s Scientific Manuscript database

Fumonisin mycotoxins are found in corn and corn-based foods. Fumonisin B1 (FB1), the most common, disrupts sphingolipid metabolism thereby causing species-specific diseases in animals that include cancer in rodents and (birth) neural tube defects (NTD) in LM/Bc mice. Fumonisins’ affect on human heal...

Screening and Characterization of Spontaneous Porcine Congenital Heart Defects for Gene Identification and Models of Human Disease

USDA-ARS?s Scientific Manuscript database

Background: Rodent models of human congenital birth defects have been instrumental for gene discovery and investigation of mechanisms of disease. However, these models are limited by their small size making practiced intervention or detailed anatomic evaluation difficult. Swine have similar anato...

College women's reported behaviors and beliefs regarding fish and folic acid and their roles in birth defects.

PubMed

Burak, Lydia J; Costello, Pamela

2006-10-01

The purpose of the current study was to examine college women's beliefs and behaviors regarding birth defect prevention via folic acid intake and avoidance of fish with high mercury levels. We surveyed 313 college women and found that the majority of them reported eating fish despite their awareness that certain types of fish contained levels of mercury that are dangerous for women of childbearing age. We also found that the majority of the women did not comply with dietary guidelines for vegetable and legume consumption, and more than half of them did not take vitamin supplements that provide folic acid.

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.

PubMed

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; Honein, Margaret A

2017-04-07

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. 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. 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%). 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 evidence of possible recent Zika virus infection during pregnancy should receive postnatal neuroimaging and Zika virus testing in addition to a comprehensive newborn physical exam and hearing screen. Identification and follow-up care of infants born to women with laboratory evidence of possible recent Zika virus infection during pregnancy and infants with possible congenital Zika virus infection can ensure that appropriate clinical services are available.

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

PubMed Central

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 evidence of possible recent Zika virus infection during pregnancy should receive postnatal neuroimaging and Zika virus testing in addition to a comprehensive newborn physical exam and hearing screen. Identification and follow-up care of infants born to women with laboratory evidence of possible recent Zika virus infection during pregnancy and infants with possible congenital Zika virus infection can ensure that appropriate clinical services are available. PMID:28384133

Successful vaginal birth after caesarean section in patient with Ehler-Danlos syndrome type 2.

PubMed

Maraj, Hemant; Mohajer, Michelle; Bhattacharjee, Deepannita

2011-12-01

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. Obstetric complications in these patients include miscarriages, stillbirths, premature rupture of the membranes, preterm labour, uterine prolapse, uterine rupture and severe postpartum haemorrhage. There has been much controversy over the appropriate mode of delivery. Abdominal deliveries are complicated by delayed wound healing and increased perioperative blood loss. Vaginal deliveries may be complicated by tissue friability causing extensive perineal tears, pelvic floor and bladder lesions. Our case highlights that in specific, controlled situations it is possible to have a vaginal delivery even after previous caesarean section in patients with EDS.

Successful vaginal birth after caesarean section in patient with Ehler-Danlos syndrome type 2

PubMed Central

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. Obstetric complications in these patients include miscarriages, stillbirths, premature rupture of the membranes, preterm labour, uterine prolapse, uterine rupture and severe postpartum haemorrhage. There has been much controversy over the appropriate mode of delivery. Abdominal deliveries are complicated by delayed wound healing and increased perioperative blood loss. Vaginal deliveries may be complicated by tissue friability causing extensive perineal tears, pelvic floor and bladder lesions. Our case highlights that in specific, controlled situations it is possible to have a vaginal delivery even after previous caesarean section in patients with EDS. PMID:27579117

The Evolution of Human Genetic Studies of Cleft Lip and Cleft Palate

PubMed Central

Marazita, Mary L.

2013-01-01

Orofacial clefts (OFCs)—primarily cleft lip and cleft palate—are among the most common birth defects in all populations worldwide, and have notable population, ethnicity, and gender differences in birth prevalence. Interest in these birth defects goes back centuries, as does formal scientific interest; scientists often used OFCs as examples or evidence during paradigm shifts in human genetics, and have also used virtually every new method of human genetic analysis to deepen our understanding of OFC. This review traces the evolution of human genetic investigations of OFC, highlights the specific insights gained about OFC through the years, and culminates in a review of recent key OFC genetic findings resulting from the powerful tools of the genomics era. Notably, OFC represents a major success for genome-wide approaches, and the field is poised for further breakthroughs in the near future. PMID:22703175

The Years of Uncertainty: Eighth Grade Family Life Education.

ERIC Educational Resources Information Center

Carson, Mary, Ed.; And Others

The family life sex education unit for eighth graders, "The Years of Uncertainty," consists of a series of daily lesson plans that span a 29-day period of one-hour class sessions. Topics covered are: problem solving, knowledge and attitudes, male and female reproductive systems, conception, pregnancy, birth, birth defects, venereal…

27 CFR 555.11 - Meaning of terms.

Code of Federal Regulations, 2010 CFR

2010-04-01

... mental defective. (a) A determination by a court, board, commission, or other lawful authority that a... relation to an individual: (a) The full name, date of birth, place of birth, sex, race, street address... substance and has lost the power of self-control with reference to the use of a controlled substance; and...

Congenital Malformations of the Central Nervous System in Rural Western Honduras: A 6-Year Report on Trends.

PubMed

Estevez-Ordonez, Dagoberto; Dewan, Michael C; Feldman, Michael J; Montalvan-Sanchez, Eleazar E; Montalvan-Sanchez, Daniela M; Rodriguez-Murillo, Aida A; Urrutia-Argueta, Samuel A; Cherry, Charlotte B; Morgan, Douglas R; Alvarez-Rodriguez, Roberto; Bonfield, Christopher M

2017-11-01

Central nervous system (CNS) malformations, including neural tube defects (NTDs), are the second most common type of birth defects worldwide and are major causes of childhood disability and mortality. We report the first analysis of birth prevalence in Western Honduras of CNS malformations including NTDs over 6 consecutive years. Data from all patients with congenital CNS malformations and total live births for the period 2010-2015 were obtained through institution and regional registries from all 3 public referral hospitals in Western Honduras, representing 67 municipalities. Cases were identified using the International Classification of Diseases, Tenth Revision CNS malformation codes. Birth prevalence was calculated as cases per 10,000 live births. From 123,903 live births, 275 cases of CNS malformations were identified (54% females, 58% NTDs). Six-year birth prevalence of CNS malformations was 13.9-31.1. Spina bifida variants and anencephaly represented 80% and 19% of reported NTDs, respectively. Total 6-year prevalence of NTDs in Western Honduras was 7.0-17.4 over years studied. In 6 municipalities, average prevalence was >30 (maximum 49.0). This is the first study reporting disease burden of CNS malformations in Western Honduras. The nationwide birth prevalence of NTDs in rural Honduras may have decreased since the implementation of prenatal health policies in 2005. However, we identified regions with unexpectedly elevated prevalence, indicating high regional prevalence that could be targeted for improved preventive efforts, ultimately decreasing the burden of these conditions. Copyright © 2017 Elsevier Inc. All rights reserved.

Adverse pregnancy outcomes around incinerators and crematoriums in Cumbria, north west England, 1956–93

PubMed Central

Dummer, T; Dickinson, H; Parker, L

2003-01-01

Study objective: To investigate the risk of stillbirth, neonatal death, and lethal congenital anomaly among babies of mothers living close to incinerators and crematoriums in Cumbria, north west England, 1956–93. Design: Retrospective cohort study. Logistic regression was used to investigate the risk of each outcome in relation to proximity at birth to incinerators and crematoriums, adjusting for social class, year of birth, birth order, and multiple births. Continuous odds ratios for trend with proximity to sites were estimated. Setting: All 3234 stillbirths, 2663 neonatal deaths, and 1569 lethal congenital anomalies among the 244 758 births to mothers living in Cumbria, 1956–1993. Main results: After adjustment for social class, year of birth, birth order, and multiple births, there was an increased risk of lethal congenital anomaly, in particular spina bifida (odds ratio 1.17, 95% CI: 1.07 to 1.28) and heart defects (odds ratio 1.12, 95% CI: 1.03 to 1.22) around incinerators and an increased risk of stillbirth (odds ratio 1.04, 95% CI: 1.01 to 1.07) and anencephalus (odds ratio 1.05, 95% CI: 1.00 to 1.10) around crematoriums. Conclusions: The authors cannot infer a causal effect from the statistical associations reported in this study. However, as there are few published studies with which to compare our results, the risk of spina bifida, heart defects, stillbirth, and anencephalus in relation to proximity to incinerators and crematoriums should be investigated further, in particular because of the increased use of incineration as a method of waste disposal. PMID:12775795

Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature.

PubMed

Rai, Narendra; Thakur, Neha; Khan, Naheed Zin; Dwivedi, Akhilesh Dutt

2015-01-01

Spondylocostal dysostosis (SCD) is a rare anomaly of axial skeleton due to flawed embryological development. A newborn baby boy with right-sided polythelia, meningocoele, fan-like configuration of third and fourth rib, fused fifth and sixth rib and third thoracic hemivertebra was delivered to a second gravid mother by elective caesarean section. Baby was active, cried immediately after birth, had normal muscle tone and reflexes. He passed urine and meconium within 24 h of birth. Based on clinical examination and radiological picture, a diagnosis of SCD with meningocele with right-sided polythelia was made. Our case is the first SCD with polythelia and meningocele in newborn. SCD with right-sided polythelia and rib deformity with neural tube defect (NTD) may be due to a genetic defect with the culprit genes missing. Further genetic and embryological studies might find a link between right-sided rib defects, polythelia and NTD.

Maternal occupation and the risk of neural tube defects in offspring.

PubMed

Kim, Jihye; Langlois, Peter H; Mitchell, Laura E; Agopian, A J

2017-07-19

We evaluated the association between maternal occupation and the risk of neural tube defects (NTDs) in offspring. Data for 491 nonsyndromic cases were obtained from the Texas Birth Defects Registry for deliveries between 1999 and 2009. We randomly selected 2,291 controls among all live births in Texas during this time. Maternal occupations were classified using automated software and manual assignment. Multivariable logistic regression analyses were used to examine the relationship between maternal occupation and risk for any NTD, adjusting for maternal race/ethnicity, any diabetes, and maternal body mass index. These analyses were repeated for spina bifida specifically. Some maternal occupations, particularly those related to business/finance, health care practice, and cleaning/maintenance, were significantly associated with increased risk of spina bifida and/or any NTD. Further research is needed to identify the specific occupational exposures related to NTD risk.

Possible Common Aetiology behind Maternal Preeclampsia and Congenital Heart Defects in the Child: a Cardiovascular Diseases in Norway Project Study.

PubMed

Brodwall, Kristoffer; Leirgul, Elisabeth; Greve, Gottfried; Vollset, Stein Emil; Holmstrøm, Henrik; Tell, Grethe S; Øyen, Nina

2016-01-01

The aetiology of congenital heart defects (CHD) is mostly unknown, but maternal factors may modify the infant risk of CHD. We investigated the association between maternal preeclampsia and offspring risk of severe CHD in a nation-wide cohort study. Information on all births registered in the Medical Birth Registry of Norway, 1994-2009, was completed with information on CHD diagnoses from national health registries and the Cardiovascular Diseases in Norway Project (CVDNOR). Among 914 703 singleton births without chromosomal abnormalities, 32 864 (3.6%) were born after a pregnancy with preeclampsia. The preeclampsia was diagnosed before the 34th week of pregnancy (early-onset preeclampsia) in 2618 (8.0% of preeclamptic pregnancies). CHDs were diagnosed in 10 691 infants; of these, 2473 had severe CHD. The risk of severe CHD was compared between births with and without maternal preeclampsia and estimated with binomial log-linear regression. When adjusting for year of birth, maternal age, parity, and pregestational diabetes, the risk ratio (RR) for severe CHD in offspring of mothers with any preeclampsia was 1.3 [95% confidence interval (CI) 1.1, 1.5], and in pregnancies with early-onset preeclampsia, the RR was 2.8 (95% CI 1.8, 4.4). The association between early-onset preeclampsia and specific types of severe CHD was stronger for atrioventricular septal defects (AVSD), with adjusted RR 13.5 (95% CI 6.8, 26.8). Early-onset preeclampsia was strongly associated with infant risk of severe CHD, specifically; the risk of AVSD was 15-fold higher if the mother was diagnosed with early-onset preeclampsia, suggesting common aetiological factors for early-onset preeclampsia and erroneous fetal heart development. © 2015 John Wiley & Sons Ltd.

Moving from Survival to Healthy Survival through Child Health Screening and Early Intervention Services Under Rashtriya Bal Swasthya Karyakram (RBSK).

PubMed

Singh, Arun K; Kumar, Rakesh; Mishra, C K; Khera, Ajay; Srivastava, Anubhav

2015-11-01

For negating the impact of early adversities on the development and ensuring a healthy, dynamic future for all children, Ministry of Health and Family Welfare in 2013 launched a programme for child health screening and early intervention services as Rashtriya Bal Swasthya Karyakram (RBSK) which aims to improve the quality of life with special focus on improving cognition and survival outcomes for "at risk" children. It has a systemic approach of prevention, early identification and management of 30 health conditions distributed under 4Ds: Defects at birth, Diseases, Deficiencies and Developmental delays including Disabilities spread over birth to 18 y of age in a holistic manner. There is a dedicated 4 member Mobile Health team for community screening and a dedicated 14 member team at District Early Intervention Center (DEIC) for comprehensive management. Existing health infrastructure and personnel are also integrated and utilized in this endeavor. Defects at birth are screened at Delivery points, home visits by accredited social health activist (ASHA), Anganwadi centers and at schools. Developmental delays are evaluated at DEIC through a multidisciplinary team with interdisciplinary approach. Five thousand four hundred eighteen dedicated Mobile Health teams have screened a total of 12.19 crore children till Dec.14. From April to Dec. 2014, 4.20 crore children were screened, of which birth to 6-y-old children were 2.13 crore while 2.07 crore were from 6 to 18 y. 17.7 lakh children were referred to tertiary centers and 6.2 lakh availed tertiary care. 50.7 lakhs were found positive for 4Ds; 1.35 lakhs were birth defects. RBSK is a step towards universal health care for free assured services.

Otoacoustic Emissions in Rural Nicaragua: Cost Analysis and Implications for Newborn Hearing Screening.

PubMed

Wong, Lye-Yeng; Espinoza, Francisca; Alvarez, Karen Mojica; Molter, Dave; Saunders, James E

2017-05-01

Objective (1) Determine the incidence and risk factors for congenital hearing loss. (2) Perform cost analysis of screening programs. Study Design Proportionally distributed cross-sectional survey. Setting Jinotega, Nicaragua. Subjects and Methods Otoacoustic emissions (OAEs) were used to screen 640 infants <6 months of age from neonatal intensive care unit, institutional, and home birth settings. Data on 15 risk factors were analyzed. Cost of 4 implementation strategies was studied: universal screening, screening at the regional health center (RHC), targeted screening, and screening at the RHC plus targeted screening. Cost-effectiveness analysis over 10 years was based on disability-adjusted life year estimates, with the World Health Organization standard of cost-effectiveness ratio (CER) / gross domestic product (GDP) <3, with GDP set at $4884.15. Results Thirty-eight infants failed the initial OAE (5.94%). In terms of births, 325 (50.8%) were in the RHC, 69 (10.8%) in the neonatal intensive care unit, and 29 (4.5%) at home. Family history and birth defect were significant in univariate analysis; birth defect was significant in multivariate analysis. Cost-effectiveness analysis demonstrated that OAE screening is cost-effective without treatment (CER/GDP = 0.06-2.00) and with treatment (CER/GDP = 0.58-2.52). Conclusions Our rate of OAE failures was comparable to those of developed countries and lower than hearing loss rates noted among Nicaraguan schoolchildren, suggesting acquired or progressive etiology in the latter. Birth defects and familial hearing loss correlated with OAE failure. OAE screening of infants is feasible and cost-effective in rural Nicaragua, although highly influenced by estimated hearing loss severity in identified infants and the high travel costs incurred in a targeted screening strategy.

Preventable health and cost burden of adverse birth outcomes associated with pregestational diabetes in the United States.

PubMed

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.

Off-Label Use of Ondansetron in Pregnancy in Western Australia

PubMed Central

Colvin, Lyn; Gill, Andrew W.; Slack-Smith, Linda; Stanley, Fiona J.; Bower, Carol

2013-01-01

Aims. Nausea and vomiting of pregnancy is the most common medical condition in pregnancy. There is an increasing trend to prescribe ondansetron although its safety for use in pregnancy has not been established. Methods. Exposed pregnancies were all births in Western Australia, 2002–2005, where the mother was dispensed ondansetron under the Australian Pharmaceutical Benefits Scheme, compared with all other births during the same period. Outcomes investigated include maternal and child characteristics, birth defects, pregnancy, and delivery characteristics. Results. There were 96,968 births from 2002 to 2005. Ondansetron was dispensed to 251 pregnant women during this period. The women dispensed ondansetron were more likely to be privately insured (OR: 5.8; 95% CI: 4.3–7.9), to be Caucasian (3.3; 1.9–5.7), not to smoke during their pregnancy (2.9; 1.8–4.7), to have a multiple birth (2.7; 1.5–5.0), and to have used fertility treatment (1.8; 1.0–3.4). There was a small but not significantly increased risk of a major birth defect with first trimester exposure (1.2; 0.6–2.2). Conclusions. Our study did not detect any adverse outcomes from the use of ondansetron in pregnancy but could not conclude that ondansetron is safe to use in pregnancy. PMID:24396830

Impact of Time to Maternal Interview on Interview Responses in the National Birth Defects Prevention Study

PubMed Central

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

2013-01-01

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. PMID:23645625

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

PubMed

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.

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

PubMed

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.

Dissection of the complex genetic basis of craniofacial anomalies using haploid genetics and interspecies hybrids in Nasonia wasps

PubMed Central

Werren, John H.; Cohen, Lorna B.; Gadau, Juergen; Ponce, Rita; Baudry, Emmanuelle; Lynch, Jeremy A.

2016-01-01

The animal head is a complex structure where numerous sensory, structural and alimentary structures are concentrated and integrated, and its ontogeny requires precise and delicate interactions among genes, cells, and tissues. Thus, it is perhaps unsurprising that craniofacial abnormalities are among the most common birth defects in people, or that these defects have a complex genetic basis involving interactions among multiple loci. Developmental processes that depend on such epistatic interactions become exponentially more difficult to study in diploid organisms as the number of genes involved increases. Here, we present hybrid haploid males of the wasp species pair Nasonia vitripennis and Nasonia giraulti, which have distinct male head morphologies, as a genetic model of craniofacial development that possesses the genetic advantages of haploidy, along with many powerful genomic tools. Viable, fertile hybrids can be made between the species, and quantitative trail loci related to shape differences have been identified. In addition, a subset of hybrid males show head abnormalities, including clefting at the midline and asymmetries. Crucially, epistatic interactions among multiple loci underlie several developmental differences and defects observed in the F2 hybrid males. Furthermore, we demonstrate an introgression of a chromosomal region from N. giraulti into N. vitripennis that shows an abnormality in relative eye size, which maps to a region containing a major QTL for this trait. Therefore, the genetic sources of head morphology can, in principle, be identified by positional cloning. Thus, Nasonia is well positioned to be a uniquely powerful model invertebrate system with which to probe both development and complex genetics of craniofacial patterning and defects. PMID:26721604

Facts about Alcohol and Other Drug Use during Pregnancy. ARC Facts.

ERIC Educational Resources Information Center

Association for Retarded Citizens, Arlington, TX.

The fact sheet provides basic information about how alcohol and drug use during pregnancy can lead to Fetal Alcohol Syndrome (FAS) and Alcohol Related Birth Defects (ARBD), resulting in such problems as mental retardation, sleep disturbances, learning disabilities, muscle problems, heart defects, and small head size. The question and answer format…

Reduction of Fumonisin Toxicity by Extrusion and Nixtamalization (Alkaline Cooking)

USDA-ARS?s Scientific Manuscript database

Fumonisins are found in corn. The most common, fumonisin FB1 (FB1) is toxic to animals, disrupts sphingolipid metabolism, and is a suspected risk factor for neural tube defects (NTDs; serious birth defect) and cancer in humans that consume contaminated corn as a diet staple. FB1 levels in foods an...

A 2011 Risk/Benefit Analysis of the Anthrax Vaccine Immunization Program

DTIC Science & Technology

2011-06-10

filled with botulinum toxin, 10 with anthrax, and 2 with aflatoxin.‖18 In 1992, Ken Alibek, a senior Russian bioweapons program manager defected...William K. Honner, Rosha A. Loach , Cynthia A. Moore, and J. David Erickson. ―Birth Defects Among Infants Born to Women Who Received Anthrax Vaccine In

Zika Virus IgG in Infants with Microcephaly, Guinea-Bissau, 2016.

PubMed

Rosenstierne, Maiken Worsøe; Schaltz-Buchholzer, Frederik; Bruzadelli, Fernanda; Có, Asson; Cardoso, Placido; Jørgensen, Charlotte Sværke; Michiels, Johan; Heyndrickx, Leo; Ariën, Kevin K; Fischer, Thea Kølsen; Fomsgaard, Anders

2018-05-01

We analyzed blood samples from infants born with microcephaly and their mothers in Guinea-Bissau in 2016 for pathogens associated with birth defects. No Zika virus RNA was detected, but Zika virus IgG was highly prevalent. We recommend implementing pathogen screening of infants with congenital defects in Guinea-Bissau.

Supplement use and other characteristics among pregnant women with a previous pregnancy affected by a neural tube defect - United States, 1997-2009.

PubMed

Arth, Annelise; Tinker, Sarah; Moore, Cynthia; Canfield, Mark; Agopian, Aj; Reefhuis, Jennita

2015-01-16

Neural tube defects (NTDs) include anomalies of the brain (anencephaly and encephalocele) and spine (spina bifida). Even with ongoing mandatory folic acid fortification of enriched cereal grain products, the U.S. Preventive Services Task Force recommends that women of childbearing potential consume a daily supplement containing 400 µg-800 µg of folic acid. Women with a prior NTD-affected pregnancy have an increased risk for having another NTD-affected pregnancy, and if they are planning another pregnancy, the recommendation is that they consume high-dosage folic acid supplements (4.0 mg/day) beginning ≥4 weeks before conception and continuing through the first 12 weeks of pregnancy. To learn whether folic acid supplementation (from multivitamins or single- ingredient supplements) was commonly used during pregnancy by women with a previous NTD-affected pregnancy, supplement use was assessed among a convenience sample of women with a previous NTD-affected pregnancy who participated in the National Birth Defects Prevention Study (NBDPS), a case-control study of major birth defects in the United States. Characteristics of women who previously had an NTD-affected pregnancy and whose index pregnancy (pregnancy included in NBDPS) was either affected by an NTD (N = 17) (i.e., recurrence-cases) or resulted in a live-born infant without a major birth defect (N = 10) (i.e., recurrence-controls) were assessed. Taking a supplement that included folic acid was more common among recurrence-control mothers (80%) than recurrence-case mothers (35%). The recommendation that women should take folic acid supplements just before and during early pregnancy is not being followed by many women and offers an opportunity for NTD prevention, especially among women who are at a higher risk because they have had a previous pregnancy affected by an NTD.

Patent ductus arteriosus in mice with smooth muscle-specific Jag1 deletion

PubMed Central

Feng, Xuesong; Krebs, Luke T.; Gridley, Thomas

2010-01-01

The ductus arteriosus is an arterial vessel that shunts blood flow away from the lungs during fetal life, but normally occludes after birth to establish the adult circulation pattern. Failure of the ductus arteriosus to close after birth is termed patent ductus arteriosus and is one of the most common congenital heart defects. Mice with smooth muscle cell-specific deletion of Jag1, which encodes a Notch ligand, die postnatally from patent ductus arteriosus. These mice exhibit defects in contractile smooth muscle cell differentiation in the vascular wall of the ductus arteriosus and adjacent descending aorta. These defects arise through an inability to propagate the JAG1-Notch signal via lateral induction throughout the width of the vascular wall. Both heterotypic endothelial smooth muscle cell interactions and homotypic vascular smooth muscle cell interactions are required for normal patterning and differentiation of the ductus arteriosus and adjacent descending aorta. This new model for a common congenital heart defect provides novel insights into the genetic programs that underlie ductus arteriosus development and closure. PMID:21068062

A Mixed-Method Study to Determine the Benefits of Periconceptional Folic Acid Supplementation and Effects of Folic Acid Deficiency in Mothers on Birth Outcomes.

PubMed

Murthy, Gudlavalleti Venkata S; Kolli, Sunanda Reddy; Neogi, Sutapa B; Singh, Samiksha; Allagh, Komal Preet; John, Neena; N, Srinivas; Ramani, Sudha; Shamanna, B R; Doyle, Pat; Kinra, Sanjay; Ness, Andy; Pallepogula, Dinesh Raj; Pant, Hira B; Babbar, Smiksha; Reddy, Raghunath; Singh, Rachna

2016-06-23

Evidence from high income countries shows mothers who are supplemented with folic acid in their periconceptional period and early pregnancy have significantly reduced adverse outcomes like birth defects. However, in India there is a paucity of data on association of birth defects and folic acid supplementation. We identified a few important questions to be answered using separate scientific methods and then planned to triangulate the information. In this paper, we describe the protocol of our study that aims to determine the association of folic acid and pregnancy outcomes like neural tube defects (NTDs) and orofacial clefts (OFCs). We decided to fill the gaps in knowledge from India to determine public health consequences of folic acid deficiency and factors influencing dietary and periconceptional consumption of folic acid. The proposed study will be carried out in five stages and will examine the questions related to folic acid deficiency across selected locations in South and North India. The study will be carried out over a period of 4 years through the hierarchical evidence-based approach. At first a systematic review was conducted to pool the current birth prevalence of NTDs and orofacial clefts OFCs in India. To investigate the population prevalence, we plan to use the key informant method to determine prevalence of NTDs and OFCs. To determine the normal serum estimates of folic acid, iron, and vitamin B12 among Indian women (15-35 years), we will conduct a population-based, cross-sectional study. We will further strengthen the evidence of association between OFCs and folic acid by conducting a hospital-based, case-control study across three locations of India. Lastly, using qualitative methods we will understand community and health workers perspective on factors that decide the intake of folic acid supplements. This study will provide evidence on the community prevalence of birth defects and prevalence folic acid and vitamin B12 deficiency in the community. The case-control study will help understand the association of folic acid deficiency with OFCs. The results from this study are intended to strengthen the evidence base in childhood disability for planning and policy initiatives.

Risk of adverse birth outcomes in populations living near landfill sites

PubMed Central

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 possibilities. What is already known on this topicVarious studies have found excess risks of certain congenital anomalies and low birth weight near landfill sitesRisks up to two to three times higher have been reportedThese studies have been difficult to interpret because of problems of exposure classification, small sample size, confounding, and reporting biasWhat this study addsSome 80% of the British population lives within 2 km of known landfill sites in Great BritainBy including all landfill sites in the country, we avoided the problem of selective reporting, and maximised statistical powerAlthough we found excess risks of congenital anomalies and low birth weight near landfill sites in Great Britain, they were smaller than in some other studiesFurther work is needed to differentiate potential data artefacts and confounding effects from possible causal associations with landfill PMID:11509424

Selected environmental risk factors and congenital heart defects.

PubMed

Kuciene, Renata; Dulskiene, Virginija

2008-01-01

The aim of the article is to review the published scientific literature and epidemiological studies about the effect of selected environmental risk factors on congenital heart defects in infants. According to recent reports, the prevalence of congenital heart defects is around 1% of live births. Congenital heart malformations are the leading cause of infant mortality. Unfortunately, the majority of the causes of heart defects remain unknown. These malformations are caused by interaction of genetic and environmental factors. The article reviews selected environmental risk factors: maternal illnesses and conditions associated with metabolic disorder (maternal diabetes, obesity, phenylketonuria), maternal lifestyle factors (alcohol use, smoking), which may increase the risk of congenital heart defects.

Safety of the 2010-11, 2011-12, 2012-13, and 2013-14 seasonal influenza vaccines in pregnancy: Birth defects, spontaneous abortion, preterm delivery, and small for gestational age infants, a study from the cohort arm of VAMPSS.

PubMed

Chambers, Christina D; Johnson, Diana L; Xu, Ronghui; Luo, Yunjun J; Louik, Carol; Mitchell, Allen A; Schatz, Michael; Jones, Kenneth L

2016-08-17

There is a need for pregnancy safety information overall and for each seasonal formulation of the influenza vaccine. As part of the cohort arm of the Vaccines and Medications in Pregnancy Surveillance System, vaccine-exposed and unexposed women in the U.S. or Canada were recruited during pregnancy in the 2010-2014 vaccine seasons and followed to pregnancy outcome. For the four seasons combined, crude and adjusted relative risks (RRs) were estimated with 95% confidence intervals (CIs) for major birth defects overall and infants small for gestational age. Crude and adjusted hazard ratios (HRs) were estimated with 95% CIs for spontaneous abortion and preterm delivery. Specific influenza season subanalyses were also conducted. Of 1730 women, 1263 were exposed to an influenza vaccine and 467 were unexposed to any influenza vaccine. Among pregnancies with first-trimester exposure excluding lost-to-follow-up, 26/457 (5.7%) resulted in an infant with a major birth defect compared to 13/427 (3.0%) in the unexposed (RR 1.87, 95% CI 0.97, 3.59). No specific pattern of defects was evident in the vaccine-exposed cohort. The overall risk of spontaneous abortion was not elevated (HR 1.09, 95% CI 0.49, 2.40). Adjusted HRs for preterm delivery approximated 1.0 (adjusted HR 1.23, 95% CI 0.75, 2.02). RRs for small for gestational age infants on weight, length and head circumference ranged from 1.19 to 1.49 with all CIs including 1. Season-by-season analyses resulted in variation by season; however, estimates were based on small numbers. Combining the 2010-2014 influenza seasons, we found a moderately elevated RR for major birth defects overall, but no evidence of a specific pattern; 95% CIs included 1, and this finding could be due to chance. In the combined seasons, we found no meaningful evidence of an increased risk for spontaneous abortion or preterm delivery following exposure to the seasonal influenza vaccine. Copyright © 2016 Elsevier Ltd. All rights reserved.

Alcohol, Tobacco, and Other Drugs May Harm the Unborn.

ERIC Educational Resources Information Center

Cook, Paddy Shannon; And Others

This book combines in a single volume the findings of basic research and clinical studies conducted on the effects of alcohol, tobacco, and other drugs on the fetus, the mother, and the baby after birth and through lactation. It first outlines changing perspectives on teratology (the study of causes for birth defects), as knowledge about the…

Search for the Missing lncs: Gene Regulatory Networks in Neural Crest Development and Long Non-coding RNA Biomarkers of Hirschsprung's Disease

EPA Science Inventory

Hirschsprung’s disease (HSCR), a birth defect characterized by variable aganglionosis of the gut, affects about 1 in 5000 births, and is a consequence of abnormal development of neural crest cells, from which enteric ganglia derive. In the companion article in this issue (Shen et...

Fathers' Experiences after Their Child Has Been Diagnosed with Down Syndrome: A Phenomenological Study

ERIC Educational Resources Information Center

Fleming, Sherry A.

2013-01-01

Expectant parents often unknowingly assume that they will give birth to a healthy child without complications. The postnatal diagnosis of a disability such as Down syndrome is often a stressful, unexpected, and surprising event (Gilmore & Cuskelly, 2012; Shur, Marion, & Gross, 2006). Down syndrome is the most common birth defect diagnosed…

Meeting the challenge: using policy to improve children's health.

PubMed

Brush, Charles Adam; Kelly, Maggie M; Green, Denise; Gaffney, Marcus; Kattwinkel, John; French, Molly

2005-11-01

We reflect on the proceedings of a symposium at a conference of the Centers for Disease Control and Prevention National Center on Birth Defects and Developmental Disabilities. We present examples of bridging the gap between science and policy to achieve improvements in children's health through case studies in early hearing detection and intervention, folic acid fortification to prevent birth defects, sleep positioning recommendations to reduce infant mortality, and workplace lactation support programs. We discuss case studies that present different policy strategies (public health law and voluntary practices) for improving public health. These case studies demonstrate both the power of policy as a tool for improving children's health and the challenges of communicating public health research to policy decisionmakers.

Pregnancy outcome after TNF-α inhibitor therapy during the first trimester: a prospective multicentre cohort study

PubMed Central

Weber-Schoendorfer, Corinna; Oppermann, Marc; Wacker, Evelin; Bernard, Nathalie; Beghin, Delphine; Cuppers-Maarschalkerweerd, Benedikte; Richardson, Jonathan L; Rothuizen, Laura E; Pistelli, Alessandra; Malm, Heli; Eleftheriou, Georgios; Kennedy, Debra; Kadioglu Duman, Mine; Meister, Reinhard; Schaefer, Christof

2015-01-01

Aims TNF-α inhibitors are considered relatively safe in pregnancy but experience is still limited. The aim of this study was to evaluate the risk of major birth defects, spontaneous abortion, preterm birth and reduced birth weight after first trimester exposure to TNF-α inhibitors. Methods Pregnancy outcomes of women on adalimumab, infliximab, etanercept, certolizumab pegol or golimumab were evaluated in a prospective observational cohort study and compared with outcomes of a non-exposed random sample. The samples were drawn from pregnancies identified by institutes collaborating in the European Network of Teratology Information Services. Results In total, 495 exposed and 1532 comparison pregnancies were contributed from nine countries. The risk of major birth defects was increased in the exposed (5.0%) compared with the non-exposed group (1.5%; adjusted odds ratio (ORadj) 2.2, 95% CI 1.0, 4.8). The risk of preterm birth was increased (17.6%; ORadj 1.69, 95% CI 1.1, 2.5), but not the risk of spontaneous abortion (16.2%; adjusted hazard ratio [HRadj] 1.06, 95% CI 0.7, 1.7). Birth weights adjusted for gestational age and sex were significantly lower in the exposed group compared to the non-exposed cohort (P = 0.02). As a diseased comparison group was not possible to ascertain, the influence of disease and treatment on birth weight and preterm birth could not be differentiated. Conclusions TNF-α inhibitors may carry a risk of adverse pregnancy outcome of moderate clinical relevance. Considering the impact of insufficiently controlled autoimmune disease on the mother and the unborn child, TNF-α inhibitors may nevertheless be a treatment option in women with severe disease refractory to established immunomodulatory drugs. PMID:25808588

A neonate with mitral stenosis due to accessory mitral valve, ventricular septal defect, and patent ductus arteriosus: changes in echocardiographical findings during the neonatal period.

PubMed

Ito, Tadahiko; Okubo, Tadashi

2002-12-01

A female neonate with mitral stenosis due to accessory mitral valve with ventricular septal defect and patent ductus arteriosus is described. She was referred to our hospital because of neonatal asphyxia. Asphyxia was improved by ventilator support, but rapid deterioration of respiration with pulmonary congestion and hemorrhage appeared 8 days after birth. Echocardiography revealed an accessory mitral valve attached to the anterior mitral leaflet with a perimembranous ventricular septal defect and patent ductus arteriosus. Although there were no echocardiographical findings indicating mitral stenosis on admission, the mitral stenosis blood flow patterns were detected by color and pulsed Doppler examination performed on the eighth day after admission. Transaortic resection of accessory mitral valve tissue was performed with patch closure of the ventricular septal defect and ligation of the ductus arteriosus 35 days after birth. After operation, pulmonary congestion and hemorrhage were improved. Postoperative echocardiography showed complete resection of the accessory mitral valve and no mitral insufficiency. We concluded that the combination of the accessory mitral valve and left-to-right shunt due to ventricular septal defect or patent ducturs arteriosus might have led to a critical hemodynamic condition due to relative mitral stenosis in the neonatal period with the decrease in pulmonary vascular resistance.

Mapping disease at an approximated individual level using aggregate data: a case study of mapping New Hampshire birth defects.

PubMed

Shi, Xun; Miller, Stephanie; Mwenda, Kevin; Onda, Akikazu; Reese, Judy; Onega, Tracy; Gui, Jiang; Karagas, Margret; Demidenko, Eugene; Moeschler, John

2013-09-06

Limited by data availability, most disease maps in the literature are for relatively large and subjectively-defined areal units, which are subject to problems associated with polygon maps. High resolution maps based on objective spatial units are needed to more precisely detect associations between disease and environmental factors. We propose to use a Restricted and Controlled Monte Carlo (RCMC) process to disaggregate polygon-level location data to achieve mapping aggregate data at an approximated individual level. RCMC assigns a random point location to a polygon-level location, in which the randomization is restricted by the polygon and controlled by the background (e.g., population at risk). RCMC allows analytical processes designed for individual data to be applied, and generates high-resolution raster maps. We applied RCMC to the town-level birth defect data for New Hampshire and generated raster maps at the resolution of 100 m. Besides the map of significance of birth defect risk represented by p-value, the output also includes a map of spatial uncertainty and a map of hot spots. RCMC is an effective method to disaggregate aggregate data. An RCMC-based disease mapping maximizes the use of available spatial information, and explicitly estimates the spatial uncertainty resulting from aggregation.

Epidemiologic and Genetic Aspects of Spina Bifida and Other Neural Tube Defects

ERIC Educational Resources Information Center

Au, Kit Sing; Ashley-Koch, Allison; Northrup, Hope

2010-01-01

The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB). Epidemiological studies have provided valuable insight for (a) researchers to identify nongenetic and genetic factors contributing to etiology, (b) public…

Infant abusive head trauma in a military cohort.

PubMed

Gumbs, Gia R; Keenan, Heather T; Sevick, Carter J; Conlin, Ava Marie S; Lloyd, David W; Runyan, Desmond K; Ryan, Margaret A K; Smith, Tyler C

2013-10-01

Evaluate the rate of, and risk factors for, abusive head trauma (AHT) among infants born to military families and compare with civilian population rates. Electronic International Classification of Diseases data from the US Department of Defense (DoD) Birth and Infant Health Registry were used to identify infants born to military families from 1998 through 2005 (N = 676 827) who met the study definition for AHT. DoD Family Advocacy Program data were used to identify infants with substantiated reports of abuse. Rates within the military were compared with civilian population rates by applying an alternate AHT case definition used in a civilian study. Applying the study definition, the estimated rate of substantiated military AHT was 34.0 cases in the first year of life per 100 000 live births. Using the alternate case definition, the estimated AHT rate was 25.6 cases per 100 000 live births. Infant risk factors for AHT included male sex, premature birth, and a diagnosed major birth defect. Parental risk factors included young maternal age (<21 years), lower sponsor rank or pay grade, and current maternal military service. This is the first large database study of AHT with the ability to link investigative results to cases. Overall rates of AHT were consistent with civilian populations when using the same case definition codes. Infants most at risk, warranting special attention from military family support programs, include infants with parents in lower military pay grades, infants with military mothers, and infants born premature or with birth defects.

Neurologic manifestations of achondroplasia.

PubMed

Hecht, Jacqueline T; Bodensteiner, John B; Butler, Ian J

2014-01-01

Achondroplasia is the best described and most common form of the congenital short-limbed dwarfing conditions. Achondroplasia is apparent at birth and has a birth prevalence of 1 in 20000-30000 live-born infants. Achondroplasia is inherited as an autosomal dominant condition, although 80% of cases occur sporadically as new events in their families. Achondroplasia is caused, in virtually all of the cases, by a G380R mutation in fibroblast growth factor receptor 3 (FGFR3). Patients with achondroplasia should be evaluated by a multidisciplinary team of clinicians including geneticists, neurologists, and orthopedists, since there are numerous bony and neurological complications. The most severe complication results from craniocervical stenosis and medullary and upper spinal cord compression, which can have devastating and even lethal sequelae during early childhood. In subsequent decades, including adolescence, spinal cord and nerve compression are more prominent. The neurological complications of achondroplasia have been recognized in adults for more than a century and are attributed to bony defects, connective tissue structures, or both. Similar neurological complications are now appreciated in infants, young children, and teenagers with achondroplasia. Defective connective tissue elements in achondroplasia frequently lead to ligamentous laxity, which can aggravate the complications associated with bony stenosis. Bony abnormalities are known to cause neurological morbidity and lead to a shortened lifespan. Neurological complications associated with achondroplasia are reviewed, including recommendations for the evaluation and management of these clinical problems. © 2014 Elsevier B.V. All rights reserved.

Congenital Auricular Malformations: Description of Anomalies and Syndromes.

PubMed

Bartel-Friedrich, Sylva

2015-12-01

Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

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

PubMed

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.

Arrhenius thermodynamics and birth defects: chemical teratogen synergy. Untested, testable, and projected relevance.

PubMed

Miller, Morton W; Church, Charles C

2013-03-01

This article addresses the issue of hyperthermia-induced birth defects with an accompanying additional teratogen, be it a chemical or a physical agent (i.e., a simultaneous "combinational" exposure to two teratogens, one of which is hyperthermia). Hyperthermia per se is a recognized human and animal teratogen. An excellent example of such combinational exposures is an epileptic woman who becomes pregnant while taking valproic acid (VPA) to control seizures. VPA is a recognized chemical teratogen, and fever (hyperthermia) is not an uncommon event during pregnancy. While VPA also may occasionally induce fever as a side effect, we are concerned here with fevers arising from other, unrelated causes. There is a small but internally consistent literature on these combinational-teratogen exposures involving hyperthermia plus a chemical teratogen; in each instance, the effect level has been observed to be synergistically elevated above levels induced by the separate teratogenic components. The data were empirical. The observed synergy is, however, consistent with Arrhenius thermodynamics, a well-known chemical rate equation. The need for information about combinational teratogen exposures is acute; fever is a common occurrence during pregnancy; and there are many instances whereby there is also the simultaneous presence of some other teratogen(s). Given that the rate of autism spectrum disorders in the United States was recently presented as 1 in 88 births, it seems reasonable to suspect that such combinational regimens are much more prevalent than previously thought. Our hypothesis is that synergistic birth defect levels from combinational regimens are consistent with Arrhenius thermodynamics. Copyright © 2013 Wiley Periodicals, Inc.

Computer simulation analysis of normal and abnormal development of the mammalian diaphragm

PubMed Central

Fisher, Jason C; Bodenstein, Lawrence

2006-01-01

Background Congenital diaphragmatic hernia (CDH) is a birth defect with significant morbidity and mortality. Knowledge of diaphragm morphogenesis and the aberrations leading to CDH is limited. Although classical embryologists described the diaphragm as arising from the septum transversum, pleuroperitoneal folds (PPF), esophageal mesentery and body wall, animal studies suggest that the PPF is the major, if not sole, contributor to the muscular diaphragm. Recently, a posterior defect in the PPF has been identified when the teratogen nitrofen is used to induce CDH in fetal rodents. We describe use of a cell-based computer modeling system (Nudge++™) to study diaphragm morphogenesis. Methods and results Key diaphragmatic structures were digitized from transverse serial sections of paraffin-embedded mouse embryos at embryonic days 11.5 and 13. Structure boundaries and simulated cells were combined in the Nudge++™ software. Model cells were assigned putative behavioral programs, and these programs were progressively modified to produce a diaphragm consistent with the observed anatomy in rodents. Homology between our model and recent anatomical observations occurred under the following simulation conditions: (1) cell mitoses are restricted to the edge of growing tissue; (2) cells near the chest wall remain mitotically active; (3) mitotically active non-edge cells migrate toward the chest wall; and (4) movement direction depends on clonal differentiation between anterior and posterior PPF cells. Conclusion With the PPF as the sole source of mitotic cells, an early defect in the PPF evolves into a posteromedial diaphragm defect, similar to that of the rodent nitrofen CDH model. A posterolateral defect, as occurs in human CDH, would be more readily recreated by invoking other cellular contributions. Our results suggest that recent reports of PPF-dominated diaphragm morphogenesis in the rodent may not be strictly applicable to man. The ability to recreate a CDH defect using a combination of experimental data and testable hypotheses gives impetus to simulation modeling as an adjunct to experimental analysis of diaphragm morphogenesis. PMID:16483386

Computer simulation analysis of normal and abnormal development of the mammalian diaphragm.

PubMed

Fisher, Jason C; Bodenstein, Lawrence

2006-02-17

Congenital diaphragmatic hernia (CDH) is a birth defect with significant morbidity and mortality. Knowledge of diaphragm morphogenesis and the aberrations leading to CDH is limited. Although classical embryologists described the diaphragm as arising from the septum transversum, pleuroperitoneal folds (PPF), esophageal mesentery and body wall, animal studies suggest that the PPF is the major, if not sole, contributor to the muscular diaphragm. Recently, a posterior defect in the PPF has been identified when the teratogen nitrofen is used to induce CDH in fetal rodents. We describe use of a cell-based computer modeling system (Nudge++) to study diaphragm morphogenesis. Key diaphragmatic structures were digitized from transverse serial sections of paraffin-embedded mouse embryos at embryonic days 11.5 and 13. Structure boundaries and simulated cells were combined in the Nudge++ software. Model cells were assigned putative behavioral programs, and these programs were progressively modified to produce a diaphragm consistent with the observed anatomy in rodents. Homology between our model and recent anatomical observations occurred under the following simulation conditions: (1) cell mitoses are restricted to the edge of growing tissue; (2) cells near the chest wall remain mitotically active; (3) mitotically active non-edge cells migrate toward the chest wall; and (4) movement direction depends on clonal differentiation between anterior and posterior PPF cells. With the PPF as the sole source of mitotic cells, an early defect in the PPF evolves into a posteromedial diaphragm defect, similar to that of the rodent nitrofen CDH model. A posterolateral defect, as occurs in human CDH, would be more readily recreated by invoking other cellular contributions. Our results suggest that recent reports of PPF-dominated diaphragm morphogenesis in the rodent may not be strictly applicable to man. The ability to recreate a CDH defect using a combination of experimental data and testable hypotheses gives impetus to simulation modeling as an adjunct to experimental analysis of diaphragm morphogenesis.

The Epidermis of Grhl3-Null Mice Displays Altered Lipid Processing and Cellular Hyperproliferation

PubMed Central

Ting, Stephen B; Caddy, Jacinta; Wilanowski, Tomasz; Auden, Alana; Cunningham, John M; Elias, Peter M; Holleran, Walter M

2005-01-01

The presence of an impermeable surface barrier is an essential homeostatic mechanism in almost all living organisms. We have recently described a novel gene that is critical for the developmental instruction and repair of the integument in mammals. This gene, Grainy head-like 3 (Grhl3) is a member of a large family of transcription factors that are homologs of the Drosophila developmental gene grainy head (grh). Mice lacking Grhl3 fail to form an adequate skin barrier, and die at birth due to dehydration. These animals are also unable to repair the epidermis, exhibiting failed wound healing in both fetal and adult stages of development. These defects are due, in part, to diminished expression of a Grhl3 target gene, Transglutaminase 1 (TGase 1), which encodes a key enzyme involved in cross-linking of epidermal structural proteins and lipids into the cornified envelope (CE). Remarkably, the Drosophila grh gene plays an analogous role, regulating enzymes involved in the generation of quinones, which are essential for cross-linking structural components of the fly epidermis. In an extension of our initial analyses, we focus this report on additional defects observed in the Grhl3-null epidermis, namely defective extra-cellular lipid processing, altered lamellar lipid architecture and cellular hyperproliferation. These abnormalities suggest that Grhl3 plays diverse mechanistic roles in maintaining homeostasis in the skin. PMID:19521564

The epidermis of grhl3-null mice displays altered lipid processing and cellular hyperproliferation.

PubMed

Ting, Stephen B; Caddy, Jacinta; Wilanowski, Tomasz; Auden, Alana; Cunningham, John M; Elias, Peter M; Holleran, Walter M; Jane, Stephen M

2005-04-01

The presence of an impermeable surface barrier is an essential homeostatic mechanism in almost all living organisms. We have recently described a novel gene that is critical for the developmental instruction and repair of the integument in mammals. This gene, Grainy head-like 3 (Grhl3) is a member of a large family of transcription factors that are homologs of the Drosophila developmental gene grainy head (grh). Mice lacking Grhl3 fail to form an adequate skin barrier, and die at birth due to dehydration. These animals are also unable to repair the epidermis, exhibiting failed wound healing in both fetal and adult stages of development. These defects are due, in part, to diminished expression of a Grhl3 target gene, Transglutaminase 1 (TGase 1), which encodes a key enzyme involved in cross-linking of epidermal structural proteins and lipids into the cornified envelope (CE). Remarkably, the Drosophila grh gene plays an analogous role, regulating enzymes involved in the generation of quinones, which are essential for cross-linking structural components of the fly epidermis. In an extension of our initial analyses, we focus this report on additional defects observed in the Grhl3-null epidermis, namely defective extra-cellular lipid processing, altered lamellar lipid architecture and cellular hyperproliferation. These abnormalities suggest that Grhl3 plays diverse mechanistic roles in maintaining homeostasis in the skin.

Effects of multiple inherited and acquired thrombophilia on outcomes of in-vitro fertilization.

PubMed

Di Nisio, Marcello; Ponzano, Adalisa; Tiboni, Gianmario; Guglielmi, Maria Domenica; Rutjes, Anne Wilhelmina Saskia; Porreca, Ettore

2018-05-09

The effects of multiple inherited and acquired thrombophilic defects on the outcome of in-vitro fertilization (IVF) remain unexplored. The aim of this study was to evaluate the association between multiple thrombophilia and clinical outcomes in a large prospective cohort of women undergoing IVF. Consecutive women scheduled for IVF were eligible. The primary study outcome was live birth. Secondary outcomes included spontaneous abortion, clinical pregnancy, and symptomatic venous thromboembolism. 687 women with a mean age of 34.6 (±3.2) years were included. Overall, 22 women (3.2%) had two or more thrombophilic defects. The probability of live birth was not statistically significantly different between women with ≥2 thrombophilia (odds ratio [OR] 0.62; 95% confidence interval [CI], 0.18 to 2.11) or ≥1 thrombophilia (OR 0.67;95% CI, 0.41 to 1.09) and women without any thrombophilia. None of the individual inherited thrombophilia nor positivity to antiphospholipid antibodies or lupus anticoagulant were associated with live birth. Single positivity for lupus anticoagulant carried a more than threefold higher risk of abortion (OR 3.74; 95% CI, 1.30 to 10.75). There were no statistically significant associations between individual or multiple thrombophilic defects and clinical pregnancy or pregnancy test results. No woman had a history of venous thromboembolism and none developed a thrombotic event during the study. In women undergoing IVF, the presence of two or more thrombophilic defects was rare and showed no statistically significant associations with IVF outcomes. Copyright © 2018 Elsevier Ltd. All rights reserved.

The use of folic acid for the prevention of birth defects in Puerto Rico

PubMed Central

García-Fragoso, Lourdes; García-García, Inés; Rivera, Cynthia E.

2009-01-01

Introduction The occurrence of neural tube defects (NTD) has been shown to vary by race/ethnicity, with the highest rates among women of Hispanic ethnicity. Women of reproductive age are advised to use folic acid to prevent NTD and other birth defects. Since 1994, Puerto Rico has a campaign to promote the use of folic acid and since 1998 there is fortification of enriched grain products. After fortification, there has been a reduction in the incidence of NTD in the island. The objective of this study is to assess the use of folic acid by women of reproductive age in Puerto Rico and determine factors associated to its use. Methods A self-administered questionnaire was answered by 964 women around the island. Results Folic acid consumption was reported by 30% of the participants, 21% reported to consume it at least 4 times per week, and only 14% consumed it the day before the survey. Knowledge about the recommendation for women to consume folic acid was reported by 97% of the participants. The use of folic acid was lower among women of lower education and lower social class. Women with higher education were 8.3 times more likely to consume folic acid. Conclusion The folic acid campaign has improved women’s knowledge about the recommendation for folic acid supplementation. Nevertheless, its use is lower than desired to continue reducing the incidence of birth defects in Puerto Rico. Education and social class continue to represent barriers to eliminate the disparities in the pre-conception health of our population. PMID:18646342

Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature

PubMed Central

Rai, Narendra; Thakur, Neha; Khan, Naheed Zin; Dwivedi, Akhilesh Dutt

2015-01-01

Spondylocostal dysostosis (SCD) is a rare anomaly of axial skeleton due to flawed embryological development. A newborn baby boy with right-sided polythelia, meningocoele, fan-like configuration of third and fourth rib, fused fifth and sixth rib and third thoracic hemivertebra was delivered to a second gravid mother by elective caesarean section. Baby was active, cried immediately after birth, had normal muscle tone and reflexes. He passed urine and meconium within 24 h of birth. Based on clinical examination and radiological picture, a diagnosis of SCD with meningocele with right-sided polythelia was made. Our case is the first SCD with polythelia and meningocele in newborn. SCD with right-sided polythelia and rib deformity with neural tube defect (NTD) may be due to a genetic defect with the culprit genes missing. Further genetic and embryological studies might find a link between right-sided rib defects, polythelia and NTD. PMID:26962344

PSO/ACO algorithm-based risk assessment of human neural tube defects in Heshun County, China.

PubMed

Liao, Yi Lan; Wang, Jin Feng; Wu, Ji Lei; Wang, Jiao Jiao; Zheng, Xiao Ying

2012-10-01

To develop a new technique for assessing the risk of birth defects, which are a major cause of infant mortality and disability in many parts of the world. The region of interest in this study was Heshun County, the county in China with the highest rate of neural tube defects (NTDs). A hybrid particle swarm optimization/ant colony optimization (PSO/ACO) algorithm was used to quantify the probability of NTDs occurring at villages with no births. The hybrid PSO/ACO algorithm is a form of artificial intelligence adapted for hierarchical classification. It is a powerful technique for modeling complex problems involving impacts of causes. The algorithm was easy to apply, with the accuracy of the results being 69.5%±7.02% at the 95% confidence level. The proposed method is simple to apply, has acceptable fault tolerance, and greatly enhances the accuracy of calculations. Copyright © 2012 The Editorial Board of Biomedical and Environmental Sciences. Published by Elsevier B.V. All rights reserved.

Folic Acid Quiz

MedlinePlus

... Surveillance References Birth Defects COUNT Data & Statistics Research Articles & Key Findings About Us Partners Links to Other Websites Information For… Media Policy Makers Folic Acid Quiz Language: English (US) ...

Evidence for inhibition of ceramide synthase by fumonisins in maize-based foods: studies in high- and low-exposure communities in Guatemala

USDA-ARS?s Scientific Manuscript database

Fumonisins (FB) are found predominantly in corn and corn-based foods. Fumonisin B1 (FB1) is the most common FB and causes species-specific diseases in animals including hepto- and nephrotoxicity in rodents and neural tube defects (NTDs; serious birth defects) in mice. The critical event in the mec...

Does acute maternal stress in pregnancy affect infant health outcomes? Examination of a large cohort of infants born after the terrorist attacks of September 11, 2001.

PubMed

Endara, Skye M; Ryan, Margaret A K; Sevick, Carter J; Conlin, Ava Marie S; Macera, Caroline A; Smith, Tyler C

2009-07-20

Infants in utero during the terrorist attacks of September 11, 2001 may have been negatively affected by maternal stress. Studies to date have produced contradictory results. Data for this retrospective cohort study were obtained from the Department of Defense Birth and Infant Health Registry and included up to 164,743 infants born to active-duty military families. Infants were considered exposed if they were in utero on September 11, 2001, while the referent group included infants gestating in the same period in the preceding and following year (2000 and 2002). We investigated the association of this acute stress during pregnancy with the infant health outcomes of male:female sex ratio, birth defects, preterm birth, and growth deficiencies in utero and in infancy. No difference in sex ratio was observed between infants in utero in the first trimester of pregnancy on September 11, 2001 and infants in the referent population. Examination of the relationship between first-trimester exposure and birth defects also revealed no significant associations. In adjusted multivariable models, neither preterm birth nor growth deficiencies were significantly associated with the maternal exposure to the stress of September 11 during pregnancy. The findings from this large population-based study suggest that women who were pregnant during the terrorist attacks of September 11, 2001 had no increased risk of adverse infant health outcomes.

Craniofacial reconstruction - series (image)

MedlinePlus

Patients requiring craniofacial reconstruction have: birth defects (such as hypertelorism, Crouzon's disease, Apert's syndrome) injuries to the head, face, or jaws (maxillofacial) tumors deformities caused by treatments of tumors

Facts about Folic Acid

MedlinePlus

... Surveillance References Birth Defects COUNT Data & Statistics Research Articles & Key Findings About Us Partners Links to Other Websites Information For… Media Policy Makers Folic Acid Basics Language: English (US) ...

Genetic Counseling: MedlinePlus Health Topic

MedlinePlus

... Craniosynostosis as a clinical and diagnostic problem: molecular pathology and... Article: GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital ... March of Dimes Birth Defects Foundation Also in Spanish ...

Protein Crystallization

NASA Technical Reports Server (NTRS)

Chernov, Alexander A.

2005-01-01

Nucleation, growth and perfection of protein crystals will be overviewed along with crystal mechanical properties. The knowledge is based on experiments using optical and force crystals behave similar to inorganic crystals, though with a difference in orders of magnitude in growing parameters. For example, the low incorporation rate of large biomolecules requires up to 100 times larger supersaturation to grow protein, rather than inorganic crystals. Nucleation is often poorly reproducible, partly because of turbulence accompanying the mixing of precipitant with protein solution. Light scattering reveals fluctuations of molecular cluster size, its growth, surface energies and increased clustering as protein ages. Growth most often occurs layer-by-layer resulting in faceted crystals. New molecular layer on crystal face is terminated by a step where molecular incorporation occurs. Quantitative data on the incorporation rate will be discussed. Rounded crystals with molecularly disordered interfaces will be explained. Defects in crystals compromise the x-ray diffraction resolution crucially needed to find the 3D atomic structure of biomolecules. The defects are immobile so that birth defects stay forever. All lattice defects known for inorganics are revealed in protein crystals. Contribution of molecular conformations to lattice disorder is important, but not studied. This contribution may be enhanced by stress field from other defects. Homologous impurities (e.g., dimers, acetylated molecules) are trapped more willingly by a growing crystal than foreign protein impurities. The trapped impurities induce internal stress eliminated in crystals exceeding a critical size (part of mni for ferritin, lysozyme). Lesser impurities are trapped from stagnant, as compared to the flowing, solution. Freezing may induce much more defects unless quickly amorphysizing intracrystalline water.

Blood flow patterns underlie developmental heart defects

PubMed Central

Midgett, Madeline; Thornburg, Kent

2017-01-01

Although cardiac malformations at birth are typically associated with genetic anomalies, blood flow dynamics also play a crucial role in heart formation. However, the relationship between blood flow patterns in the early embryo and later cardiovascular malformation has not been determined. We used the chicken embryo model to quantify the extent to which anomalous blood flow patterns predict cardiac defects that resemble those in humans and found that restricting either the inflow to the heart or the outflow led to reproducible abnormalities with a dose-response type relationship between blood flow stimuli and the expression of cardiac phenotypes. Constricting the outflow tract by 10–35% led predominantly to ventricular septal defects, whereas constricting by 35–60% most often led to double outlet right ventricle. Ligation of the vitelline vein caused mostly pharyngeal arch artery malformations. We show that both cardiac inflow reduction and graded outflow constriction strongly influence the development of specific and persistent abnormal cardiac structure and function. Moreover, the hemodynamic-associated cardiac defects recapitulate those caused by genetic disorders. Thus our data demonstrate the importance of investigating embryonic blood flow conditions to understand the root causes of congenital heart disease as a prerequisite to future prevention and treatment. NEW & NOTEWORTHY Congenital heart defects result from genetic anomalies, teratogen exposure, and altered blood flow during embryonic development. We show here a novel “dose-response” type relationship between the level of blood flow alteration and manifestation of specific cardiac phenotypes. We speculate that abnormal blood flow may frequently underlie congenital heart defects. PMID:28062416

The Prevalence of Congenital Hand and Upper Extremity Anomalies Based Upon the New York Congenital Malformations Registry.

PubMed

Goldfarb, Charles A; Shaw, Neil; Steffen, Jennifer A; Wall, Lindley B

2017-03-01

There have been few publications regarding the prevalence of congenital upper extremity anomalies and no recent reports from the United States. The purpose of this investigation was to examine the prevalence of congenital upper extremity anomalies in the total birth population of New York State over a 19-year period utilizing the New York Congenital Malformations Registry (NYCMR) database. The NYCMR includes children with at least 1 birth anomaly diagnosed by 2 years of age and listed by diagnosis code. We scrutinized these codes for specific upper extremity anomalies, including polydactyly, syndactyly, reduction defects, clubhand malformations, and syndromes with upper limb anomalies. We included children born between 1992 and 2010. There were a total of 4,883,072 live births in New York State during the study period. The overall prevalence of congenital upper extremity anomalies was 27.2 cases per 10,000 live births. Polydactyly was most common with 12,418 cases and a prevalence rate of 23.4 per 10,000 live births. The next most common anomalies included syndactyly with 627 cases affecting the hands (1498 total) and reduction defects (1111 cases). Specific syndromes were quite rare and were noted in a total of 215 live births. The prevalence of anomalies was higher in New York City compared with New York State populations at 33.0 and 21.9 per 10,000 live births, respectively. The NYCMR data demonstrate that congenital upper extremity anomalies are more common than previously reported. This is in large part due to the high prevalence of polydactyly. Although registries are imperfect, such data are helpful in monitoring prevalence rates over time, identifying potential causes or associations, and guiding health care planning and future research. Level I-diagnostic.

Pregnancy outcome among offspring of airline pilots and cabin attendants.

PubMed

Irgens, Agot; Irgens, Lorentz M; Reitan, Jon B; Haldorsen, Tor; Tveten, Ulf

2003-04-01

This study assessed the occurrence of perinatal death, low birthweight, preterm birth, and birth defects (total, major, neural tube defects, total cleft, cleft palate, hypospadias, and Down syndrome) in the offspring of airline pilots and cabin attendants. A cohort of offspring of airline pilots and cabin attendants was established and characterized in terms of parental exposure to cosmic radiation the year before birth or ever. Pregnancy outcome was derived from the Medical Birth Register of Norway. The reference group comprised offspring of parents without occupational exposure to cosmic radiation. No deviant risks were observed for the offspring of male pilots, either for the year preceding birth (N=2,111) or ever (N=2,356). Specific birth outcomes were fewer for the pilots than for the referents (N=1,621,186), except for Down syndrome, which was more frequent [odds ratio (OR) 1.41, 95% confidence interval (95% CI) 0.53-3.76]. For exposure the year preceding birth (N=2,512), the risk of low birthweight was lower for the female cabin attendants than for the referents (adjusted OR 0.83, 95% CI 0.69-1.00), while Down syndrome was more frequent (OR 1.44, 95% CI 0.60-3.47). For exposure ever (N=3346), the risk of low birthweight was lower (OR 0.82, 95% CI 0.70-0.96) for the cabin attendants, while hypospadias (OR 1.18, 95% CI 0.61-3.04) and Down syndrome (OR 1.79, 95% CI 0.03-3.45) were more frequent In general, offspring of air pilots and cabin attendants do not seem to be at increased risk of adverse pregnancy outcome.

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

PubMed

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 risk assessment and waste policy. Copyright © 2014 Elsevier Ltd. All rights reserved.

Population-Based Microcephaly Surveillance in the United States, 2009 to 2013: An Analysis of Potential Sources of Variation

PubMed Central

Cragan, Janet D.; Isenburg, Jennifer L.; Parker, Samantha E.; Alverson, C.J.; Meyer, Robert E.; Stallings, Erin B.; Kirby, Russell S.; Lupo, Philip J.; Liu, Jennifer S.; Seagroves, Amanda; Ethen, Mary K.; Cho, Sook Ja; Evans, MaryAnn; Liberman, Rebecca F.; Fornoff, Jane; Browne, Marilyn L.; Rutkowski, Rachel E.; Nance, Amy E.; Anderka, Marlene; Fox, Deborah J.; Steele, Amy; Copeland, Glenn; Romitti, Paul A.; Mai, Cara T.

2017-01-01

Background Congenital microcephaly has been linked to maternal Zika virus infection. However, ascertaining infants diagnosed with microcephaly can be challenging. Methods Thirty birth defects surveillance programs provided data on infants diagnosed with microcephaly born 2009 to 2013. The pooled prevalence of microcephaly per 10,000 live births was estimated overall and by maternal/infant characteristics. Variation in prevalence was examined across case finding methods. Nine programs provided data on head circumference and conditions potentially contributing to microcephaly. Results The pooled prevalence of microcephaly was 8.7 per 10,000 live births. Median prevalence (per 10,000 live births) was similar among programs using active (6.7) and passive (6.6) methods; the interdecile range of prevalence estimates was wider among programs using passive methods for all race/ethnicity categories except Hispanic. Prevalence (per 10,000 live births) was lowest among non-Hispanic Whites (6.5) and highest among non-Hispanic Blacks and Hispanics (11.2 and 11.9, respectively); estimates followed a U-shaped distribution by maternal age with the highest prevalence among mothers <20 years (11.5) and ≥40 years (13.2). For gestational age and birth weight, the highest prevalence was among infants <32 weeks gestation and infants <1500 gm. Case definitions varied; 41.8% of cases had an HC ≥ the 10th percentile for sex and gestational age. Conclusion Differences in methods, population distribution of maternal/infant characteristics, and case definitions for microcephaly can contribute to the wide range of observed prevalence estimates across individual birth defects surveillance programs. Addressing these factors in the setting of Zika virus infection can improve the quality of prevalence estimates. PMID:27891783

Individual-based versus aggregate meta-analysis in multi-database studies of pregnancy outcomes: the Nordic example of selective serotonin reuptake inhibitors and venlafaxine in pregnancy.

PubMed

Selmer, Randi; Haglund, Bengt; Furu, Kari; Andersen, Morten; Nørgaard, Mette; Zoëga, Helga; Kieler, Helle

2016-10-01

Compare analyses of a pooled data set on the individual level with aggregate meta-analysis in a multi-database study. We reanalysed data on 2.3 million births in a Nordic register based cohort study. We compared estimated odds ratios (OR) for the effect of selective serotonin reuptake inhibitors (SSRI) and venlafaxine use in pregnancy on any cardiovascular birth defect and the rare outcome right ventricular outflow tract obstructions (RVOTO). Common covariates included maternal age, calendar year, birth order, maternal diabetes, and co-medication. Additional covariates were added in analyses with country-optimized adjustment. Country adjusted OR (95%CI) for any cardiovascular birth defect in the individual-based pooled analysis was 1.27 (1.17-1.39), 1.17 (1.07-1.27) adjusted for common covariates and 1.15 (1.05-1.26) adjusted for all covariates. In fixed effects meta-analyses pooled OR was 1.29 (1.19-1.41) based on crude country specific ORs, 1.19 (1.09-1.29) adjusted for common covariates, and 1.16 (1.06-1.27) for country-optimized adjustment. In a random effects model the adjusted OR was 1.07 (0.87-1.32). For RVOTO, OR was 1.48 (1.15-1.89) adjusted for all covariates in the pooled data set, and 1.53 (1.19-1.96) after country-optimized adjustment. Country-specific adjusted analyses at the substance level were not possible for RVOTO. Results of fixed effects meta-analysis and individual-based analyses of a pooled dataset were similar in this study on the association of SSRI/venlafaxine and cardiovascular birth defects. Country-optimized adjustment attenuated the estimates more than adjustment for common covariates only. When data are sparse pooled data on the individual level are needed for adjusted analyses. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

Apparent prevention of neural tube defects by periconceptional vitamin supplementation.

PubMed Central

Smithells, R W; Sheppard, S; Schorah, C J; Seller, M J; Nevin, N C; Harris, R; Read, A P; Fielding, D W

1981-01-01

An earlier preliminary paper is expanded. Women who had given birth to one or more infants with a neural tube defect were recruited into a trial of per conceptional vitamin supplementation. Two hundred mothers attending five centres were fully supplemented (FS), 50 were partially supplemented (PS), and 300 were unsupplemented (US). Neural tube defect recurrences in the study pregnancies were 1 (0.5%), in FS, none in PS, and 13 (4%) in US mothers. The difference in outcome between FS and US mothers is significant. The most likely explanation is that supplementation has prevented some neural tube defects, but further studies are needed. PMID:7332338

Folic acid supplementation and the occurrence of congenital heart defects, orofacial clefts, multiple births, and miscarriage.

PubMed

Bailey, Lynn B; Berry, Robert J

2005-05-01

Key research findings relative to the question of whether maternal use of folic acid before and during pregnancy reduces the chance that offspring will be born with a congenital heart defect or an orofacial cleft are reviewed in this paper. Observational studies in general support an association between maternal use of multivitamins containing folic acid and a reduction in the occurrence of congenital heart defects and orofacial clefts. Results from one randomized controlled trial (RCT) provide the strongest evidence that multivitamins prevent congenital heart defects, but this RCT did not provide evidence that multivitamins prevent orofacial clefts. In addition, most observational and interventional studies are not designed to detect an independent effect from folic acid. Early studies suggested that periconceptional multivitamin use was associated with an increased occurrence of both miscarriages and multiple births, which has resulted in a great deal of controversy about the safety of folic acid use during pregnancy. We also review reports that were designed to answer these questions with more definitive data. When more substantial evidence about the effect of periconceptional folic acid on the occurrence of congenital heart defects and orofacial clefts is reported, we will have additional support for promoting folic acid intervention programs. All women capable of becoming pregnant should continue to consume 400 mug/d of folic acid in addition to a healthy diet as advised.

Xenopus as a Model Organism for Birth Defects – Congenital Heart Disease and Heterotaxy

PubMed Central

Duncan, Anna R.; Khokha, Mustafa K.

2016-01-01

Congenital heart disease is the leading cause of birth defects, affecting 9 out of 1000 newborns each year. A particularly severe form of congenital heart disease is heterotaxy, a disorder of left-right development. Despite aggressive surgical management, patients with heterotaxy have poor survival rates and severe morbidity due to their complex congenital heart disease. Recent genetic analysis of affected patients has found novel candidate genes for heterotaxy although their underlying mechanisms remain unknown. In this review, we discuss the importance and challenges of birth defects research including high locus heterogeneity and few second alleles that make defining disease causality difficult. A powerful strategy moving forward is to analyze these candidate genes in a high-throughput human disease model. Xenopus is ideal for these studies. We present multiple examples demonstrating the power of Xenopus in discovery new biology from the analysis of candidate heterotaxy genes such as GALNT11, NEK2 and BCOR. These genes have diverse roles in embryos and have led to a greater understanding of complex signaling pathways and basic developmental biology. It is our hope that the mechanistic analysis of these candidate genes in Xenopus enabled by next generation sequencing of patients will provide clinicians with a greater understanding of patient pathophysiology allowing more precise and personalized medicine, to help them more effectively in the future. PMID:26910255

Pregnancy outcomes among U.S. Gulf War veterans: a population-based survey of 30,000 veterans.

PubMed

Kang, H; Magee, C; Mahan, C; Lee, K; Murphy, F; Jackson, L; Matanoski, G

2001-10-01

We evaluated an association between veterans' Gulf War service and reported adverse pregnancy outcomes. We conducted a health survey in which selected reproductive outcomes of a population-based sample of 15,000 Gulf War veterans representing four military branches and three unit components (active, reserve, and National Guard) were compared to those of 15,000 non-Gulf veteran controls. Male Gulf veterans, compared with their non-Gulf veteran controls, reported a significantly higher rate of miscarriage (odds ratio [OR] = 1.62; 95% confidence interval [CI] = 1.32-1.99). Female Gulf veterans also reported more miscarriages than their respective controls, although their excess was not statistically significant (OR= 1.35; CI = 0.97-1.89). Both men and women deployed to the Gulf theater reported significant excesses of birth defects among their liveborn infants. These excess rates also extended to the subset of "moderate to severe" birth defects [males: OR= 1.78 (CI = 1.19-2.66); females: OR = 2.80 (CI = 1.26-6.25)]. No statistically significant differences by deployment status were found among men or women for stillbirths, pre-term deliveries or infant mortality. The risk of veterans reporting birth defects among their children was significantly associated with veteran's military service in the Gulf War. This observation needs to be confirmed by a review of medical records to rule out possible reporting bias.

Fetal Alcohol Spectrum Disorders.

PubMed

Williams, Janet F; Smith, Vincent C

2015-11-01

Prenatal exposure to alcohol can damage the developing fetus and is the leading preventable cause of birth defects and intellectual and neurodevelopmental disabilities. In 1973, fetal alcohol syndrome was first described as a specific cluster of birth defects resulting from alcohol exposure in utero. Subsequently, research unequivocally revealed that prenatal alcohol exposure causes a broad range of adverse developmental effects. Fetal alcohol spectrum disorder (FASD) is the general term that encompasses the range of adverse effects associated with prenatal alcohol exposure. The diagnostic criteria for fetal alcohol syndrome are specific, and comprehensive efforts are ongoing to establish definitive criteria for diagnosing the other FASDs. A large and growing body of research has led to evidence-based FASD education of professionals and the public, broader prevention initiatives, and recommended treatment approaches based on the following premises:▪ Alcohol-related birth defects and developmental disabilities are completely preventable when pregnant women abstain from alcohol use.▪ Neurocognitive and behavioral problems resulting from prenatal alcohol exposure are lifelong.▪ Early recognition, diagnosis, and therapy for any condition along the FASD continuum can result in improved outcomes.▪ During pregnancy:◦no amount of alcohol intake should be considered safe;◦there is no safe trimester to drink alcohol;◦all forms of alcohol, such as beer, wine, and liquor, pose similar risk; and◦binge drinking poses dose-related risk to the developing fetus. Copyright © 2015 by the American Academy of Pediatrics.

Pregnancy Outcomes Related to Mycophenolate Exposure in Female Kidney Transplant Recipients.

PubMed

King, R W; Baca, M J; Armenti, V T; Kaplan, B

2017-01-01

In 2012, the U.S. Food and Drug Administration issued guidelines advising kidney transplant recipients (KTRs) to discontinue mycophenolate (MPA) in preparation for pregnancy. Little is known about how this guidance has affected pregnancy and graft outcomes. The purpose of this retrospective cohort study was to investigate any association between the discontinuation of MPA and KTR pregnancy and graft outcomes. Data from the National Transplantation Pregnancy Registry included 382 cases in which KTRs managed on MPA became pregnant. Overall, 22 variables, including the time in which a KTR discontinued MPA, were assessed across four end points: miscarriages, birth defects, and 2- and 5-year postpartum graft loss. Birth defects and miscarriages were similar among KTRs who discontinued MPA >6 and <6 weeks prior to pregnancy and during the first trimester. In contrast, discontinuing MPA during the second trimester or later significantly increased the risk of miscarriages (odds ratio [OR] 9.35, 95% confidence interval [CI] 4.31-20.00, p < 0.001) and birth defects (OR 6.06, 95% CI 1.96-18.87, p = 0.002). Discontinuing MPA <6 weeks prior to pregnancy was associated with an increased risk of 5-year graft loss. For the fetus, there is value to discontinuing MPA anytime prior to the second trimester. Adhering to current guidelines does not negatively affect graft survival. © Copyright 2016 The American Society of Transplantation and the American Society of Transplant Surgeons.

Identifying environmental risk factors for human neural tube defects before and after folic acid supplementation

PubMed Central

Liao, Yilan; Wang, Jinfeng; Li, Xinhu; Guo, Yaoqin; Zheng, Xiaoying

2009-01-01

Background Birth defects are a major cause of infant mortality and disability in many parts of the world. Neural tube defects (NTDs) are one of the most common types of birth defects. In 2001, the Chinese population and family planning commission initiated a national intervention program for the prevention of birth defects. A key step in the program was the introduction of folic acid supplementation. Of interest in the present study was to determine whether folic acid supplementation has the same protective effect on NTDs under various geographical and socioeconomic conditions within the Chinese population and the nature in which the influence of environmental factors varied after folic acid supplementation. Methods In this study, Heshun was selected as the region of interest as a surrogate for helping to answer some of the questions raised in this study on the impact of the intervention program. Spatial filtering in combination with GIS software was used to detect annual potential clusters from 1998 to 2005 in Heshun, and Kruskal-wallis test and multivariate regression were applied to identify the environmental risk factors for NTDs among various regions. Results In 1998, a significant (p < 0.100) NTDs cluster was detected in the west of Heshun. After folic acid supplementation, the significant clusters gradually moved from west to east. However, during the study period, most of the clusters appeared in the middle region of Heshun where more than 95 percent of the coal mines of Heshun are located. For the analysis, buffer regions of the coal mine zone were built in a GIS environment. It was found that the correlations between environmental risk factors and NTDs vary among the buffer regions. Conclusion This suggests that the government needs to adapt the intervention measures according to local conditions. More attention needs to be paid to the poor and to people living in areas near coal mines. PMID:19835574

Gastroesophageal reflux disease - children

MedlinePlus

Peptic esophagitis - children; Reflux esophagitis - children; GERD - children; Heartburn - chronic - children; Dyspepsia - GERD - children ... GERD. Certain factors can lead to GERD in children, including: Birth defects, such as hiatal hernia , a ...

Infertility

MedlinePlus

... Male infertility can be caused by: Birth defects Cancer treatments, including chemotherapy and radiation Exposure to high heat for prolonged periods Heavy use of alcohol, marijuana, or cocaine Hormone imbalance Impotence Infection Medicines such ...

Pentalogy of Cantrell: report of a case with consanguineous parents.

PubMed

Pachajoa, Harry; Barragán, Arelis; Potes, Angela; Torres, Javier; Isaza, Carolina

2010-01-01

Pentalogy of Cantrell is a syndrome evidencing five anomalies: a midline, upper abdominal wall abnormality; lower sternal defect; anterior diaphragmatic defect; diaphragmatic pericardial defect, and congenital abnormalities of the heart. Its prevalence is one in every 65,000 live births and a survival rate that is low if the fall the five defects are present or the gravity of the cardiac anomalies. It may be diagnosed during the first trimester obstetric ultrasound. For postnatal care, emission-computed tomography and magnetic resonance imaging is recommended for a clear definition of the extent of the defect and to design a course of corrective surgery. Herein, a case of pentology of Cantrell is reported for a child offspring of consanguineous parents.

Cleft Lip and Cleft Palate--What to Know and Who Can Help

ERIC Educational Resources Information Center

Apel, Laura

2008-01-01

Craniofacial defects such as cleft lip and cleft palate are among the most common of all birth defects in the United States, with one in every 600 newborns affected. Cleft lip and/or palate can occur as an isolated condition or may be one component of an inherited disease or syndrome. Dealing with the condition is an extremely difficult and…

Multivitamins, Folic Acid and Birth Defects: Knowledge, Beliefs and Behaviors of Hispanic Women in North Carolina

ERIC Educational Resources Information Center

deRosset, Leslie; Mullenix, Amy; Zhang, Lei

2009-01-01

Background: Consumption of folic acid prior to conception can prevent up to 70% of neural tube defect (NTD)-affected pregnancies. In 1992, the U.S. Public Health Service (USPHS) issued a recommendation that all women of childbearing age capable of becoming pregnant consume 400 [mu]g of folic acid daily to reduce their risk for a NTD-affected…

Maternal Medication and Herbal Use and Risk for Hypospadias: Data from the National Birth Defects Prevention Study, 1997--2007

PubMed Central

Lind, Jennifer N.; Tinker, Sarah C.; Broussard, Cheryl S.; Reefhuis, Jennita; Carmichael, Suzan L.; Honein, Margaret A.; Olney, Richard S.; Parker, Samantha E.; Werler, Martha M.

2014-01-01

Purpose Investigate associations between maternal use of common medications and herbals during early pregnancy and risk for hypospadias in male infants. Methods We used data from the National Birth Defects Prevention Study, a multi-site, population-based, case-control study. We analyzed data from 1,537 infants with second-or third-degree isolated hypospadias and 4,314 liveborn male control infants without major birth defects, with estimated dates of delivery from 1997–2007. Exposure was reported use of prescription or over-the-counter medications or herbal products, from 1 month before to 4 months after conception. Adjusted odds ratios (aORs) and 95% confidence intervals (CI) were estimated using multivariable logistic regression, adjusting for maternal age, race/ethnicity, education, pre-pregnancy BMI, previous live births, maternal sub-fertility, study site, and year. Results We assessed 64 medication and 24 herbal components. Maternal uses of most components were not associated with an increased risk of hypospadias. Two new associations were observed for venlafaxine (aOR 2.4; 95% CI 1.0, 6.0) and progestin only oral contraceptives (aOR 1.9, 95% CI 1.1, 3.2). The previously reported association for clomiphene citrate was confirmed (aOR 1.9, 95% CI 1.2, 3.0). Numbers were relatively small for exposure to other specific patterns of fertility agents, but elevated aORs were observed for the most common of them. Conclusions Overall, findings were reassuring that hypospadias is not associated with most medication components examined in this analysis. New associations will need to be confirmed in other studies. Increased risks for hypospadias associated with various fertility agents raises the possibility of confounding by underlying subfertility. PMID:23620412

Differences in risk factors for 2nd and 3rd degree hypospadias in the National Birth Defects Prevention Study

PubMed Central

in 't Woud, Sander Groen; van Rooij, Iris A.L.M.; van Gelder, Marleen M.H.J.; Olney, Richard S.; Carmichael, Suzan L.; Roeleveld, Nel; Reefhuis, Jennita

2015-01-01

Background Hypospadias is a frequent birth defect with three phenotypic subtypes. With data from the National Birth Defects Prevention Study, a large, multi-state, population-based, case-control study, we compared risk factors for second and third degree hypospadias. Methods A wide variety of data on maternal and pregnancy-related risk factors for isolated second and third degree hypospadias was collected via computer-assisted telephone interviews to identify potential etiological differences between the two phenotypes. Logistic regression was used to calculate odds ratios including a random effect by study center. Results In total, 1547 second degree cases, 389 third degree cases, and 5183 male controls were included in our study. Third degree cases were more likely to have a non-Hispanic black or Asian/Pacific Islander mother, be delivered preterm, have a low birth weight, be small for gestational age, and be conceived with fertility treatments than second degree cases and controls. Associations with both second and third degree hypospadias were observed for maternal age, family history, parity, plurality, and hypertension during pregnancy. Risk estimates were generally higher for third degree hypospadias except for family history. Conclusions Most risk factors were associated with both or neither phenotype. Therefore, it is likely that the underlying mechanism is at least partly similar for both phenotypes. However, some associations were different between 2nd and 3rd degree hypospadias, and went in opposite directions for second and third degree hypospadias for Asian/Pacific Islander mothers. Effect estimates for subtypes of hypospadias may be over- or underestimated in studies without stratification by phenotype. PMID:25181604

Epidemiological Surveillance of Birth Defects Compatible with Thalidomide Embryopathy in Brazil

PubMed Central

Vianna, Fernanda Sales Luiz; Lopez-Camelo, Jorge S.; Leite, Júlio César Louguercio; Sanseverino, Maria Teresa Vieira; Dutra, Maria da Graça; Castilla, Eduardo E.; Schüler-Faccini, Lavínia

2011-01-01

The thalidomide tragedy of the 1960s resulted in thousands of children being born with severe limb reduction defects (LRD), among other malformations. In Brazil, there are still babies born with thalidomide embryopathy (TE) because of leprosy prevalence, availability of thalidomide, and deficiencies in the control of drug dispensation. Our objective was to implement a system of proactive surveillance to identify birth defects compatible with TE. Along one year, newborns with LRD were assessed in the Brazilian hospitals participating in the Latin-American Collaborative Study of Congenital Malformations (ECLAMC). A phenotype of LRD called thalidomide embryopathy phenotype (TEP) was established for surveillance. Children with TEP born between the years 2000–2008 were monitored, and during the 2007–2008 period we clinically investigated in greater detail all cases with TEP (proactive period). The period from 1982 to 1999 was defined as the baseline period for the cumulative sum statistics. The frequency of TEP during the surveillance period, at 3.10/10,000 births (CI 95%: 2.50–3.70), was significantly higher than that observed in the baseline period (1.92/10,000 births; CI 95%: 1.60–2.20), and not uniformly distributed across different Brazilian regions. During the proactive surveillance (2007–2008), two cases of suspected TE were identified, although the two mothers had denied the use of the drug during pregnancy. Our results suggest that TEP has probably increased in recent years, which coincides with the period of greater thalidomide availability. Our proactive surveillance identified two newborns with suspected TE, proving to be a sensitive tool to detect TE. The high frequency of leprosy and the large use of thalidomide reinforce the need for a continuous monitoring of TEP across Brazil. PMID:21754997

Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies

DOE Office of Scientific and Technical Information (OSTI.GOV)

Hammel, Markus; Michel, Geert; Hoefer, Christina

2007-08-10

Mutations in the human ABCA3 gene, encoding an ABC-transporter, are associated with respiratory failure in newborns and pediatric interstitial lung disease. In order to study disease mechanisms, a transgenic mouse model with a disrupted Abca3 gene was generated by targeting embryonic stem cells. While heterozygous animals developed normally and were fertile, individuals homozygous for the altered allele (Abca3-/-) died within one hour after birth from respiratory failure, ABCA3 protein being undetectable. Abca3-/- newborns showed atelectasis of the lung in comparison to a normal gas content in unaffected or heterozygous littermates. Electron microscopy demonstrated the absence of normal lamellar bodies inmore » type II pneumocytes. Instead, condensed structures with apparent absence of lipid content were found. We conclude that ABCA3 is required for the formation of lamellar bodies and lung surfactant function. The phenotype of respiratory failure immediately after birth corresponds to the clinical course of severe ABCA3 mutations in human newborns.« less

Cesarean Sections

MedlinePlus

... a baby that involves making incisions in the mother's abdominal wall and uterus. Generally considered safe, C- ... certain birth defects (such as severe hydrocephalus) the mother has problems with the placenta, such as placenta ...

Prenatal Testing: MedlinePlus Health Topic

MedlinePlus

... Dept. of Health and Human Services Office on Women's Health Start Here Prenatal Tests (Nemours Foundation) Also in Spanish Prenatal Tests (March of Dimes Birth Defects Foundation) Also in Spanish ...

PeriStats: Perinatal Statistics

MedlinePlus

... Delaware Massachusetts North Dakota Washington District of ... Natality Data Update Updated Data and PeriStats Enhancements Birth Defects Data Updated & Expanded 2013 Infant Mortality & 2014 BRFSS Data 2011 and 2012 Infant Mortality ...

Most unwanted.

PubMed Central

Fisher, B E

1999-01-01

Persistent organic pollutants (POPs) can travel thousands of miles, accumulate in the food chain, and persist in the environment, taking as long as centuries to degrade. POPs are known to play a role in birth defects, cancer, immune system dysfunction, and reproductive problems in wildlife. While the effects of POPs on human health are unclear, many researchers believe that long-term exposure contributes to increasing rates of birth defects, fertility problems, greater susceptibility to disease, diminished intelligence, and certain cancers. Twelve POPs have been identified by the United Nations Environment Programme as requiring urgent regulatory attention. They include the pesticides aldrin, chlordane, DDT, dieldrin, endrin, heptachlor, hexachlorobenzene, mirex, and toxaphene. Of the remaining three POPs, polychlorinated biphenyls are industrial products (used in electrical transformers), and dioxins and furans are unintentional by-products of industrial processes. PMID:9872725

Has prenatal screening influenced the prevalence of comorbidities associated with Down syndrome and subsequent survival rates?

PubMed

Halliday, Jane; Collins, Veronica; Riley, Merilyn; Youssef, Danielle; Muggli, Evelyne

2009-01-01

With this study we aimed to compare survival rates for children with Down syndrome in 2 time periods, 1 before prenatal screening (1988-1990) and 1 contemporaneous with screening (1998-2000), and to examine the frequency of comorbidities and their influence on survival rates. Record-linkage was performed between the population-based Victorian Birth Defects Register and records of deaths in children up to 15 years of age collected under the auspice of the Consultative Council on Obstetric and Pediatric Mortality and Morbidity. Cases of Down syndrome were coded according to the presence or absence of comorbidities by using the International Classification of Diseases, Ninth Revision classification of birth defects. Kaplan-Meier survival functions and log rank tests for equality of survival distributions were performed. Of infants liveborn with Down syndrome in 1998-2000, 90% survived to 5 years of age, compared with 86% in the earlier cohort. With fetal deaths excluded, the proportion of isolated Down syndrome cases in the earlier cohort was 48.7% compared with 46.1% in the most recent cohort. In 1988-1990 there was at least 1 cardiac defect in 41.1% of cases and in 45.4% in 1998-2000. There was significant variation in survival rates for the different comorbidity groupings in the 1988-1990 cohort, but this was not so evident in the 1998-2000 cohort. Survival of children with Down syndrome continues to improve, and there is an overall survival figure of 90% to at least 5 years of age. It is clear from this study that prenatal screening technologies are not differentially ascertaining fetuses with Down syndrome and additional defects, because there has been no proportional increase in births of isolated cases with Down syndrome.

Air pollution and limb defects: a matched-pairs case-control study in Taiwan.

PubMed

Lin, Yu-Ting; Lee, Yungling Leo; Jung, Chau-Ren; Jaakkola, Jouni J K; Hwang, Bing-Fang

2014-07-01

Air pollution influences the development of limb defects in animals. There is little epidemiologic evidence on the effect of prenatal air pollution exposure on the risk of limb defects. To assess the relations between exposure to ambient air pollutants and the risk of limb defects. We conducted a matched-pairs case-control study in Taiwan from 2001 through 2007. The case group consisted of 1687 limb defects and the control group was density-sampling matched one to ten based on the month and year of conception from 1510,064 live singleton newborns in 2001-2007. Adjusted conditional logistic regression models were used to estimate odds ratios per 10 ppb change for O3, NO2, 1 ppb change for SO2, 10 µg/m(3) change for PM10, and 100 ppb change for CO during the first trimester and first three gestational months. Of the specific limb defects, reduction deformities of limbs (adjusted OR=1.024, 95% CI: 1.000, 1.048) was associated with a 1 ppb increase in SO2 during weeks of 9-12 of gestation as well as the first trimester. Reduction deformities of limbs was also associated with a 10 ppb increase in O3 during weeks of 1-4 of gestation (adjusted OR=1.391, 95% CI: 1.064, 1.818) among preterm births. The present study provides evidence that exposure to outdoor air SO2 during the first trimester of pregnancy may increase the risk of limb defects. Exposure to O3 was associated with reduction deformities of limbs among preterm births. Similar levels of SO2 and O3 are encountered globally by large numbers of pregnant women. Copyright © 2014 Elsevier Inc. All rights reserved.

Enzyme replacement prevents enamel defects in hypophosphatasia mice

PubMed Central

Yadav, Manisha C.; de Oliveira, Rodrigo Cardoso; Foster, Brian L.; Fong, Hanson; Cory, Esther; Narisawa, Sonoko; Sah, Robert L.; Somerman, Martha; Whyte, Michael P.; Millán, José Luis

2012-01-01

Hypophosphatasia (HPP) is the inborn error of metabolism characterized by deficiency of alkaline phosphatase activity leading to rickets or osteomalacia and to dental defects. HPP occurs from loss-of-function mutations within the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNAP). TNAP knockout (Alpl−/−, a.k.a. Akp2−/−) mice closely phenocopy infantile HPP, including the rickets, vitamin B6-responsive seizures, improper dentin mineralization, and lack of acellular cementum. Here, we report that lack of TNAP in Alpl−/− mice also causes severe enamel defects, which are preventable by enzyme replacement with mineral-targeted TNAP (ENB-0040). Immunohistochemistry was used to map the spatiotemporal expression of TNAP in the tissues of the developing enamel organ of healthy mouse molars and incisors. We found strong, stage-specific expression of TNAP in ameloblasts. In the Alpl−/− mice, histological, μCT, and scanning electron microscopy analysis showed reduced mineralization and disrupted organization of the rods and inter-rod structures in enamel of both the molars and incisors. All of these abnormalities were prevented in mice receiving from birth daily subcutaneous injections of mineral-targeting, human TNAP (sALP-FcD10, a.k.a. ENB-0040) at 8.2 mg/kg/day for up to 44 days. These data reveal an important role for TNAP in enamel mineralization, and demonstrate the efficacy of mineral-targeted TNAP to prevent enamel defects in HPP. PMID:22461224

Pathology of Podocytopathies Causing Nephrotic Syndrome in Children.

PubMed

Ranganathan, Sarangarajan

2016-01-01

Nephrotic syndrome (NS) in children includes a diverse group of diseases that range from genetic diseases without any immunological defects to causes that are primarily due to immunological effects. Recent advances in molecular and genomic studies have resulted in a plethora of genetic defects that have been localized to the podocyte, the basic structure that is instrumental in normal filtration process. Although the disease can manifest from birth and into adulthood, the primary focus of this review would be to describe the novel genes and pathology of primary podocyte defects that cause NS in children. This review will restrict itself to the pathology of congenital NS, minimal change disease (MCD), and its variants and focal segmental glomerulosclerosis (FSGS). The two major types of congenital NS are Finnish type characterized by dilated sausage shaped tubules morphologically and diffuse mesangial sclerosis characterized by glomerulosclerosis. MCD has usually normal appearing biopsy features on light microscopy and needs electron microscopy for diagnosis, whereas FSGS in contrast has classic segmental sclerosing lesions identified in different portions of the glomeruli and tubular atrophy. This review summarizes the pathological characteristics of these conditions and also delves into the various genetic defects that have been described as the cause of these primary podocytopathies. Other secondary causes of NS in children, such as membranoproliferative and membranous glomerulonephritis, will not be covered in this review.

Loratadine and Pregnancy

MedlinePlus

... with several limitations suggested a small risk for hypospadias (a condition where the opening of the penis ... risk of any type of birth defect, including hypospadias. Also, studies involving infants with hypospadias did not ...

Voiding cystourethrogram

MedlinePlus

... infection. It is also used to diagnose and evaluate: Difficulty emptying the bladder Birth defects with the ... ADAM Health Solutions. About MedlinePlus Site Map FAQs Customer Support Get email updates Subscribe to RSS Follow ...

Facts about Anencephaly

MedlinePlus

... for Prevention Birth Defects are Common, Costly, and Critical Videos & Podcasts Buttons Prevent to Protect PACT Quiz ... front part of the brain (forebrain) and the thinking and coordinating part of the brain (cerebrum). The ...

Atrial septal defect (ASD)

MedlinePlus

... any symptoms, or symptoms may not occur until middle age or later. Symptoms that do occur may begin at any time after birth through childhood. They can include: Difficulty breathing ( dyspnea ) Frequent respiratory ...

Lithium and Pregnancy

MedlinePlus

... best live chat Live Help Fact Sheets Share Lithium Wednesday, 01 November 2017 In every pregnancy, a ... risk. This sheet talks about whether exposure to lithium may increase the risk for birth defects over ...

Nutrition during Pregnancy

MedlinePlus

... meals during pregnancy? The United States Department of Agriculture has made it easier to plan meals during ... of folic acid daily to help prevent major birth defects of the fetal brain and spine called ...

Methotrexate and Pregnancy

MedlinePlus

... methotrexate to draw firm conclusions. One 2009 review paper reported no increase in miscarriage or birth defect ... methotrexate in the first trimester. While reassuring, this paper does not mean there is no risk for ...

Hydromyelia

MedlinePlus

... children with hydrocephalus or birth defects such as Chiari Malformation II and Dandy-Walker syndrome. Syringomyelia, however, features ... primarily in adults, the majority of whom have Chiari Malformation type 1 or have experienced spinal cord trauma. ...

Effects of vitamin D binding protein-macrophage activating factor (DBP-MAF) infusion on bone resorption in two osteopetrotic mutations.

PubMed

Schneider, G B; Benis, K A; Flay, N W; Ireland, R A; Popoff, S N

1995-06-01

Osteopetrosis is a heterogeneous group of bone diseases characterized by an excess accumulation of bone and a variety of immune defects. Osteopetrosis (op) and incisors absent (ia) are two nonallelic mutations in the rat which demonstrated these skeletal defects as a result of reduced bone resorption. Osteopetrotic (op) rats have severe sclerosis as a result of reduced numbers of osteoclasts which are structurally abnormal. The sclerosis in ia rats is not as severe as in op mutants; they have elevated numbers of osteoclasts, but they are also morphologically abnormal, lacking a ruffled border. Both of these mutations have defects in the inflammation-primed activation of macrophages. They demonstrate independent defects in the cascade involved in the conversion of vitamin D binding protein (DBP) to a potent macrophage activating factor (DBP-MAF). Because this factor may also play a role in the pathogenesis of osteoclastic dysfunction, the effects of ex vivo-generated DBP-MAF were evaluated on the skeletal system of these two mutations. Newborn ia and op rats and normal littermate controls were injected with DBP-MAF or vehicle once every 4 days from birth until 2 weeks of age, at which time bone samples were collected to evaluate a number of skeletal parameters. DBP-MAF treated op rats had an increased number of osteoclasts and the majority of them exhibited normal structure. There was also reduced bone volume in the treated op animals and an associated increased cellularity of the marrow spaces. The skeletal sclerosis was also corrected in the ia rats; the bone marrow cavity size was significantly enlarged and the majority of the osteoclasts appeared normal with extensive ruffled borders.

Does acute maternal stress in pregnancy affect infant health outcomes? Examination of a large cohort of infants born after the terrorist attacks of September 11, 2001

PubMed Central

Endara, Skye M; Ryan, Margaret AK; Sevick, Carter J; Conlin, Ava Marie S; Macera, Caroline A; Smith, Tyler C

2009-01-01

Background Infants in utero during the terrorist attacks of September 11, 2001 may have been negatively affected by maternal stress. Studies to date have produced contradictory results. Methods Data for this retrospective cohort study were obtained from the Department of Defense Birth and Infant Health Registry and included up to 164,743 infants born to active-duty military families. Infants were considered exposed if they were in utero on September 11, 2001, while the referent group included infants gestating in the same period in the preceding and following year (2000 and 2002). We investigated the association of this acute stress during pregnancy with the infant health outcomes of male:female sex ratio, birth defects, preterm birth, and growth deficiencies in utero and in infancy. Results No difference in sex ratio was observed between infants in utero in the first trimester of pregnancy on September 11, 2001 and infants in the referent population. Examination of the relationship between first-trimester exposure and birth defects also revealed no significant associations. In adjusted multivariable models, neither preterm birth nor growth deficiencies were significantly associated with the maternal exposure to the stress of September 11 during pregnancy. Conclusion The findings from this large population-based study suggest that women who were pregnant during the terrorist attacks of September 11, 2001 had no increased risk of adverse infant health outcomes. PMID:19619310

Prevalence and Clinical Attributes of Congenital Microcephaly - New York, 2013-2015.

PubMed

Graham, Krishika A; Fox, Deborah J; Talati, Achala; Pantea, Cristian; Brady, Laura; Carter, Sondra L; Friedenberg, Eric; Vora, Neil M; Browne, Marilyn L; Lee, Christopher T

2017-02-10

Congenital Zika virus infection can cause microcephaly and other severe fetal neurological anomalies (1). To inform microcephaly surveillance efforts and assess ascertainment sources, the New York State Department of Health and the New York City Department of Health and Mental Hygiene sought to determine the prevalence of microcephaly in New York during 2013-2015, before known importation of Zika virus infections. Suspected newborn microcephaly diagnoses were identified from 1) reports submitted by birth hospitals in response to a request and 2) queries of a hospital administrative discharge database for newborn microcephaly diagnoses. Anthropometric measurements, maternal demographics, and pregnancy characteristics were abstracted from newborn records from both sources. Diagnoses were classified using microcephaly case definitions developed by CDC and the National Birth Defects Prevention Network (NBDPN) (2). During 2013-2015, 284 newborns in New York met the case definition for severe congenital microcephaly (prevalence = 4.2 per 10,000 live births). Most newborns with severe congenital microcephaly were identified by both sources; 263 (93%) were identified through hospital requests and 256 (90%) were identified through administrative discharge data. The proportions of newborns with severe congenital microcephaly who were black (30%) or Hispanic (31%) were higher than the observed proportions of black (15%) or Hispanic (23%) infants among New York live births. Fifty-eight percent of newborns with severe congenital microcephaly were born to mothers with pregnancy complications or who had in utero or perinatal infections or teratogenic exposures, genetic disorders, or family histories of birth defects.

Risk of congenital anomalies around a municipal solid waste incinerator: a GIS-based case-control study

PubMed Central

Vinceti, Marco; Malagoli, Carlotta; Fabbi, Sara; Teggi, Sergio; Rodolfi, Rossella; Garavelli, Livia; Astolfi, Gianni; Rivieri, Francesca

2009-01-01

Background Waste incineration releases into the environment toxic substances having a teratogenic potential, but little epidemiologic evidence is available on this topic. We aimed at examining the relation between exposure to the emissions from a municipal solid waste incinerator and risk of birth defects in a northern Italy community, using Geographical Information System (GIS) data to estimate exposure and a population-based case-control study design. By modelling the incinerator emissions, we defined in the GIS three areas of increasing exposure according to predicted dioxins concentrations. We mapped the 228 births and induced abortions with diagnosis of congenital anomalies observed during the 1998–2006 period, together with a corresponding series of control births matched for year and hospital of birth/abortion as well as maternal age, using maternal address in the first three months of pregnancy to geocode cases and controls. Results Among women residing in the areas with medium and high exposure, prevalence of anomalies in the offspring was substantially comparable to that observed in the control population, nor dose-response relations for any of the major categories of birth defects emerged. Furthermore, odds ratio for congenital anomalies did not decrease during a prolonged shut-down period of the plant. Conclusion Overall, these findings do not lend support to the hypothesis that the environmental contamination occurring around an incineration plant such as that examined in this study may induce major teratogenic effects. PMID:19208225

Perinatal outcomes and changes in the oral cavity: Brazilian cohorts of Ribeirão Preto and São Luís.

PubMed

Thomaz, Érika Bárbara Abreu Fonseca; Alves, Cláudia Maria Coêlho; Ribeiro, Cecília Cláudia Costa; Batista, Rosângela Fernandes Lucena; Simões, Vanda Maria Ferreira; Cavalli, Ricardo; Saraiva, Maria da Conceição; Cardoso, Viviane Cunha; Bettiol, Heloisa; Barbieri, Marco Antonio; da Silva, Antônio Augusto Moura

2015-01-01

Studies have shown a possible association of oral diseases during pregnancy with preterm birth (PTB) and low birth weight (LBW). These perinatal outcomes appear to be associated with enamel defects in the primary dentition, which, in turn, seem to predispose to future development of caries in children. Therefore it is relevant to include oral health variables of the mother/child dyad in cohort studies to understand how these factors are associated. The objectives of this study are: 1) check if there is an association between diseases of the oral cavity of pregnant women and PTB, 2) test the hypothesis of association between perinatal outcomes and enamel defects/dental caries in children, 3) examine whether there are associations between perinatal outcomes and disorders of tooth eruption in children; 4) build theoretical models to study social inequities as a common factor between oral conditions and perinatal outcomes. We used an integrated, collaborative approach between two Brazilian cities with contrasting socioeconomic conditions: Sao Luis , MA, and Ribeirão Preto, SP - British Birth Cohort Studies study (BRISA Ribeirão Preto, São Luís). Two cohorts were evaluated: one initiated at birth, representative of the population of live births, and another, initiated prenatally. Participants were reassessed from the beginning of the second year of life. It is expected that these cohorts will contribute to foster the development and consolidation of population-based follow-up studies in Brazil.

Hypospadias repair - discharge

MedlinePlus

... this page: //medlineplus.gov/ency/patientinstructions/000158.htm Hypospadias repair - discharge To use the sharing features on this page, please enable JavaScript. Your child had hypospadias repair to fix a birth defect in which ...

Docusate Sodium and Pregnancy

MedlinePlus

... live chat Live Help Fact Sheets Share Docusate Sodium Sunday, 01 April 2018 In every pregnancy, a ... This sheet talks about whether exposure to docusate sodium may increase the risk for birth defects over ...

Birth Defects: Cerebral Palsy

MedlinePlus

... Quality Collaboratives Launch Prematurity research centers What is team science? More than 75 years of solving problems ... is CP treated? You can work with a team of health care providers to figure out your ...

Thalidomide and Pregnancy

MedlinePlus

... taking thalidomide have an effect on my baby’s behavior and development? The only long-term studies of thalidomide exposure during pregnancy have been done on children born with birth defects. Some of these children ...

Naval Medical Research and Development News. Volume 8, Issue 6

DTIC Science & Technology

2016-06-01

infection during pregnancy can cause a serious birth defect called microcephaly and other severe fetal brain defects, the CDC says. In May 2015, the... survey with a focus on a variety of topics, including physical and mental health, the quality of marital and family relationships, work/ family...mechanisms. The study is longitudinal and seeks to follow spouses for 21 or more years, with follow-up surveys requested approximately every

Congenital heart defects: the 10-year experience at a single center.

PubMed

Aydin, Emine; Aypar, Ebru; Oktem, Ahmet; Ozyuncu, Ozgur; Yurdakok, Murat; Guvener, Murat; Demircin, Metin; Beksac, M Sinan

2018-06-18

We aimed to evaluate congenital heart disease (CHD) cases according to EUROCAT subgroup classification that were diagnosed during the prenatal period in our center. CHDs that were prenatally diagnosed using ultrasonography and confirmed by fetal echocardiography were reviewed over a 10-year period. Subgroup classification was finalized at the post-partum period in terms of the EUROCAT guide 1.3. Congenital heart defect subtypes and obstetric outcomes (gestational week at delivery, birth weight, gender, extracardiac structural abnormalities, karyotype results if performed) were analyzed. The data of 180 cases with CHD was examined. Left ventricular outflow tract obstruction (LVOT) was the most common CHD subtype (57/180; 31.6%), which included 48, five, and four cases of hypoplastic left heart syndrome (HLHS), coarctation of the aorta, and aortic valve atresia/stenosis, respectively. Eighteen pregnancies were terminated; the most common CHD subtype among patients of terminated pregnancies was hypoplastic left heart syndrome (HLHS) (n = 7, 38.8%). The most common extracardiac malformations were a single umbilical artery, esophageal atresia, and situs inversus in our study group. Eighteen of the 96 (18.75%) neonates with CHD died during the neonatal period. The most common CHD subtype was HLHS (7/18; 38%) among the newborns who died after birth. Prenatal diagnosis of a CHD and subgroup classification is very important for clinical decision making, including prenatal management, recommendations for termination of the pregnancy, postnatal management of the patient, and for early referral to pediatric cardiology and cardiovascular surgery centers.

Pediatric cancer risk in association with birth defects: A systematic review

PubMed Central

Padda, Hannah; Feng, Qianxi; Partap, Sonia; Fowler, Susan A.; Druley, Todd E.

2017-01-01

Background Many epidemiological studies have examined associations between birth defects (BDs) and pediatric malignancy over the past several decades. Our objective was to conduct a systematic literature review of studies reporting on this association. Methods We used librarian-designed searches of the PubMed Medline and Embase databases to identify primary research articles on pediatric neoplasms and BDs. English language articles from PubMed and Embase up to 10/12/2015, and in PubMed up to 5/12/2017 following an updated search, were eligible for inclusion if they reported primary epidemiological research results on associations between BDs and pediatric malignancies. Two reviewers coded each article based on the title and abstract to identify eligible articles that were abstracted using a structured form. Additional articles were identified through reference lists and other sources. Results were synthesized for pediatric cancers overall and for nine major pediatric cancer subtypes. Results A total of 14,778 article citations were identified, of which 80 met inclusion criteria. Pediatric cancer risk was increased in most studies in association with BDs overall with some notable specific findings, including increased risks for CNS tumors in association with CNS abnormalities and positive associations between rib anomalies and several pediatric cancer types. Conclusions Some children born with BDs may be at increased risk for specific pediatric malignancy types. This work provides a foundation for future investigations that are needed to clarify specific BD types predisposing toward malignancy and possible underlying causes of both BDs and malignancy. PMID:28749971

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly

PubMed Central

Cullup, T.; Boustred, C.; James, C.; Docker, J.; English, C.; Lench, N.; Copp, A.J.; Moore, G.E.; Greene, N.D.E.; Stanier, P.

2018-01-01

Neural tube defects (NTDs) affecting the brain (anencephaly) are lethal before or at birth, whereas lower spinal defects (spina bifida) may lead to lifelong neurological handicap. Collectively, NTDs rank among the most common birth defects worldwide. This study focuses on anencephaly, which despite having a similar frequency to spina bifida and being the most common type of NTD observed in mouse models, has had more limited inclusion in genetic studies. A genetic influence is strongly implicated in determining risk of NTDs and a molecular diagnosis is of fundamental importance to families both in terms of understanding the origin of the condition and for managing future pregnancies. Here we used a custom panel of 191 NTD candidate genes to screen 90 patients with cranial NTDs (n = 85 anencephaly and n = 5 craniorachischisis) with a targeted exome sequencing platform. After filtering and comparing to our in‐house control exome database (N = 509), we identified 397 rare variants (minor allele frequency, MAF < 1%), 21 of which were previously unreported and predicted damaging. This included 1 frameshift (PDGFRA), 2 stop‐gained (MAT1A; NOS2) and 18 missense variations. Together with evidence for oligogenic inheritance, this study provides new information on the possible genetic causation of anencephaly. PMID:29205322

Genetic and Cellular Mechanisms Regulating Anterior Foregut and Esophageal Development

PubMed Central

Jacobs, Ian J.; Ku, Wei-Yao; Que, Jianwen

2012-01-01

Separation of the single anterior foregut tube into the esophagus and trachea involves cell proliferation and differentiation, as well as dynamic changes in cell-cell adhesion and migration. These biological processes are regulated and coordinated at multiple levels through the interplay of the epithelium and mesenchyme. Genetic studies and in vitro modeling have shed light on relevant regulatory networks that include a number of transcription factors and signaling pathways. These signaling molecules exhibit unique expression patterns and play specific functions in their respective territories before the separation process occurs. Disruption of regulatory networks inevitably leads to defective separation and malformation of the trachea and esophagus and results in the formation of a relatively common birth defect, esophageal atresia with or without tracheoesophageal fistula (EA/TEF). Significantly, some of the signaling pathways and transcription factors involved in anterior foregut separation continue to play important roles in the morphogenesis of the individual organs. In this review, we will focus on new findings related to these different developmental processes and discuss them in the context of developmental disorders (or birth defects) commonly seen in clinics. PMID:22750256

Imaging of cardiovascular dynamics in early mouse embryos with swept source optical coherence tomography

NASA Astrophysics Data System (ADS)

Larina, Irina V.; Liebling, Michael; Dickinson, Mary E.; Larin, Kirill V.

2009-02-01

Congenital cardiovascular defects are very common, occurring in 1% of live births, and cardiovascular failures are the leading cause of birth defect-related deaths in infants. To improve diagnostics, prevention and treatment of cardiovascular abnormalities, we need to understand not only how cells form the heart and vessels but also how physical factors such as heart contraction and blood flow influence heart development and changes in the circulatory network. Mouse models are an excellent resource for studying cardiovascular development and disease because of the resemblance to humans, rapid generation time, and availability of mutants with cardiovascular defects linked to human diseases. In this work, we present results on development and application of Doppler Swept Source Optical Coherence Tomography (DSS-OCT) for imaging of cardiovascular dynamics and blood flow in the mouse embryonic heart and vessels. Our studies demonstrated that the spatial and temporal resolution of the DSS-OCT makes it possible to perform sensitive measurements of heart and vessel wall movements and to investigate how contractile waves facilitate the movement of blood through the circulatory system.

History, heresy and radiology in scientific discovery.

PubMed

McCredie, J

2009-10-01

Nowadays, most drugs reach the market after research has established their pharmacology, safety and efficacy. That was not always the case 50 years ago. Thalidomide was used before its target cell or mode of action were known. Commencing with the thalidomide catastrophe--an epidemic of gross birth defects (1958-1962)--thalidomide's origins are revisited to show how this drug came to be made and sold in the 1950s. Thalidomide intersected with Australian radiology in the 1970s. The site and mode of action of the drug was deduced from X-rays of thalidomide-induced bone defects, which have classical radiological signs of sensory neuropathic osteoarthropathy. The longitudinal reduction deformities follow the distribution of segmental sensory innervation of the limb skeleton, indicating neural crest as the target organ. Injury to one level of neural crest halts normal neurotrophism and deletes the dependent segment--a previously unrecognised embryonic mechanism that explains most non-genetic birth defects. The final common pathway is neural crest injury and failure of normal neurotrophism to result in longitudinal reduction deformities, for example, phocomelia.

Minimum prevalence of chromosome 22q11 deletions

DOE Office of Scientific and Technical Information (OSTI.GOV)

Wilson, D.I.; Cross, I.E.; Burn, J.

1994-09-01

Submicroscopic deletions from within chromosome 22q11 are associated with DiGeorge (DGS), velocardiofacial (VCFS) and conotruncal anomaly syndromes and isolated congenital heart defects. In 1993 our pediatric cardiologists clinically referred all children in whom a chromosome 22q11 deletion was suspected for fluorescent in situ hybridization studies using probes from the DGS critical region. 10 affected individuals have been identified to date from the children born in 1993 in the Northern Region served exclusively by our center. A further case, the subsequent pregnancy in one of these families was affected and terminated on the basis of a major heart malformation. In themore » years 1988-92, for which we have complete ascertainment, there were 1009 heart defects among 191,700 births (mean 202 per annum). Thus we estimate that chromosome 22q11 deletions were the cause of at least 5% of congenital heart disease. As not all children with chromosome 22q11 deletions have a heart defect, this gives an estimated minimum prevalence of 1/4000 live births.« less

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

PubMed

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.

Metronidazole (Flagyl) and Pregnancy

MedlinePlus

Metronidazole (Flagyl®) In every pregnancy, a woman starts out with a 3-5% chance of having a ... risk. This sheet talks about whether exposure to metronidazole may increase the risk for birth defects over ...

27 CFR 16.21 - Mandatory label information.

Code of Federal Regulations, 2011 CFR

2011-04-01

... not drink alcoholic beverages during pregnancy because of the risk of birth defects. (2) Consumption of alcoholic beverages impairs your ability to drive a car or operate machinery, and may cause health...

27 CFR 16.21 - Mandatory label information.

Code of Federal Regulations, 2012 CFR

2012-04-01

... not drink alcoholic beverages during pregnancy because of the risk of birth defects. (2) Consumption of alcoholic beverages impairs your ability to drive a car or operate machinery, and may cause health...

27 CFR 16.21 - Mandatory label information.

Code of Federal Regulations, 2014 CFR

2014-04-01

... not drink alcoholic beverages during pregnancy because of the risk of birth defects. (2) Consumption of alcoholic beverages impairs your ability to drive a car or operate machinery, and may cause health...

27 CFR 16.21 - Mandatory label information.

Code of Federal Regulations, 2013 CFR

2013-04-01

... not drink alcoholic beverages during pregnancy because of the risk of birth defects. (2) Consumption of alcoholic beverages impairs your ability to drive a car or operate machinery, and may cause health...

Reducing Risks of Birth Defects

MedlinePlus

... Physicians Contact Us My ACOG ACOG Departments Donate Shop Career Connection Home Clinical Guidance & Publications Practice Management ... its website: www.aa.org . How can recreational drug use affect my pregnancy? Using substances—including heroin, ...

Pulmonary Hypertension Overview

MedlinePlus

... well as sleep apnea, are common causes of secondary pulmonary hypertension. Other causes include the following: Congestive heart failure Birth defects in the heart Chronic pulmonary thromboembolism (blood clots in the pulmonary arteries) Acquired immunodeficiency syndrome ( ...

Russell-Silver syndrome

MedlinePlus

... to improve muscle tone Special education, to address learning disabilities and attention deficit problems the child may have ... be normal, although the person may have a learning disability. Birth defects of the urinary tract may be ...

27 CFR 16.21 - Mandatory label information.

Code of Federal Regulations, 2010 CFR

2010-04-01

... not drink alcoholic beverages during pregnancy because of the risk of birth defects. (2) Consumption of alcoholic beverages impairs your ability to drive a car or operate machinery, and may cause health...

Artificial Limbs

MedlinePlus

... a number of reasons. Common ones include Circulation problems from atherosclerosis or diabetes. They may cause you to need an amputation. Traumatic injuries, including from traffic accidents and military combat Cancer Birth defects If you are missing ...

Racial/ethnic differences in hospital use and cost among a statewide population of children with Down syndrome

PubMed Central

Derrington, Taletha Mae; Kotelchuck, Milton; Plummer, Katrina; Cabral, Howard; Lin, Angela E.; Belanoff, Candice; Shin, Mikyong; Correa, Adolfo; Grosse, Scott D.

2015-01-01

Children with Down syndrome (DS) use hospital services more often than children without DS, but data on racial/ethnic variations are limited. This study generated population-based estimates of hospital use and cost to 3 years of age by race/ethnicity among children with DS in Massachusetts using birth certificates linked to birth defects registry and hospital discharge data from 1999 to 2004. Hospital use (≥1 post-birth hospitalization and median days hospitalized birth and post-birth) and reasons for hospitalization were compared across maternal race/ethnicity using relative risk (RR) and Wilcoxon rank sums tests, as appropriate. Costs were calculated in 2011 United States dollars. Greater hospital use was observed among children with DS with Hispanic vs. Non-Hispanic White (NHW) mothers (post-birth hospitalization: RR 1.4; median days hospitalized: 20.0 vs. 11.0, respectively). Children with DS and congenital heart defects of Non-Hispanic Black (NHB) mothers had significantly greater median days hospitalized than their NHW counterparts (24.0 vs. 16.0, respectively). Respiratory diagnoses were listed more often among children with Hispanic vs. NHW mothers (50.0% vs. 29.1%, respectively), and NHBs had more cardiac diagnoses (34.1% vs. 21.5%, respectively). The mean total hospital cost was nine times higher among children with DS ($40,075) than among children without DS ($4053), and total costs attributable to DS were almost $18 million. Median costs were $22,781 for Hispanics, $18,495 for NHBs, and $13,947 for NHWs. Public health interventions should address the higher rates of hospital use and hospitalizations for respiratory and cardiac diseases among racial/ethnic minority children with DS in Massachusetts. PMID:23892874

Racial/ethnic differences in hospital use and cost among a statewide population of children with Down syndrome.

PubMed

Derrington, Taletha Mae; Kotelchuck, Milton; Plummer, Katrina; Cabral, Howard; Lin, Angela E; Belanoff, Candice; Shin, Mikyong; Correa, Adolfo; Grosse, Scott D

2013-10-01

Children with Down syndrome (DS) use hospital services more often than children without DS, but data on racial/ethnic variations are limited. This study generated population-based estimates of hospital use and cost to 3 years of age by race/ethnicity among children with DS in Massachusetts using birth certificates linked to birth defects registry and hospital discharge data from 1999 to 2004. Hospital use (≥ 1 post-birth hospitalization and median days hospitalized birth and post-birth) and reasons for hospitalization were compared across maternal race/ethnicity using relative risk (RR) and Wilcoxon rank sums tests, as appropriate. Costs were calculated in 2011 United States dollars. Greater hospital use was observed among children with DS with Hispanic vs. Non-Hispanic White (NHW) mothers (post-birth hospitalization: RR 1.4; median days hospitalized: 20.0 vs. 11.0, respectively). Children with DS and congenital heart defects of Non-Hispanic Black (NHB) mothers had significantly greater median days hospitalized than their NHW counterparts (24.0 vs. 16.0, respectively). Respiratory diagnoses were listed more often among children with Hispanic vs. NHW mothers (50.0% vs. 29.1%, respectively), and NHBs had more cardiac diagnoses (34.1% vs. 21.5%, respectively). The mean total hospital cost was nine times higher among children with DS ($40,075) than among children without DS ($4053), and total costs attributable to DS were almost $18 million. Median costs were $22,781 for Hispanics, $18,495 for NHBs, and $13,947 for NHWs. Public health interventions should address the higher rates of hospital use and hospitalizations for respiratory and cardiac diseases among racial/ethnic minority children with DS in Massachusetts. Copyright © 2013 Elsevier Ltd. All rights reserved.

Ectopic Kidney

MedlinePlus

... Ectopic Kidney Medullary Sponge Kidney Kidney Dysplasia Ectopic Kidney What is an ectopic kidney? An ectopic kidney is a birth defect in ... has an ectopic kidney. 1 What are the kidneys and what do they do? The kidneys are ...

Etanercept (Enbrel) and Pregnancy

MedlinePlus

... treated with etanercept. Rheumatologists responding to a study survey reported no increase in birth defects or miscarriage in 417 women exposed to etanercept or another TNF inhibitor during pregnancy. About one third of these women continued to ...

Facts about Coarctation of the Aorta

MedlinePlus

... Media Policy Makers Facts about Coarctation of the Aorta Recommend on Facebook Tweet Share Compartir Click here ... narrower than usual. What is Coarctation of the Aorta? Coarctation of the aorta is a birth defect ...

Shoulder CT scan

MedlinePlus

CAT scan - shoulder; Computed axial tomography scan - shoulder; Computed tomography scan - shoulder; CT scan - shoulder ... Risks of CT scans include: Being exposed to radiation Allergic reaction to contrast dye Birth defect if done during pregnancy CT scans ...

Quadruple screen test

MedlinePlus

... with a family history of birth defects Normal Results Normal levels of AFP, hCG, uE3, and inhibin ... meaning of your specific test results. What Abnormal Results Mean An abnormal test result does NOT mean ...

Folic acid and birth defect prevention

MedlinePlus

Preconceptional counseling. In: Cunningham FG, Leveno KL, Bloom SL, et al, eds. Williams Obstetrics. 24th ed. New York, NY: McGraw-Hill; 2014:chap 8. US Preventive Services Task Force. Folic acid for ...

Birth Defects Diagnosis

MedlinePlus

... screen tests the levels of 4 proteins AFP (alpha-fetoprotein), hCG, estriol, and inhibin-A. Generally, the maternal ... which an amniocentesis tests. AFP AFP stands for alpha-fetoprotein, a protein the unborn baby produces. A high ...

Screening Tests for Birth Defects

MedlinePlus

... Priorities GR & Outreach State Advocacy Underserved Women Global Women's Health Council on Patient Safety For Patients Patient FAQs Spanish Pamphlets Teen Health About ACOG About Us Leadership & Governance ACOG Districts ACOG Sections Careers at ACOG ...

Birth Defects (For Parents)

MedlinePlus

... Palate Clubfoot Tetralogy of Fallot (TOF) Spina Bifida Cerebral Palsy Gene Therapy and Children Congenital Hypothyroidism Folic Acid ... Lip and Cleft Palate Cleft Lip and Palate Cerebral Palsy Having a Healthy Pregnancy View more About Us ...

Nutrition Update, 1978.

ERIC Educational Resources Information Center

Weininger, Jean; Briggs, George M.

1978-01-01

Reviews current nutrition research areas with important practical applications. Topics include hypertension, preventable birth defects, phenylketonuria and genetic diseases, new molecular genetics techniques, and saccharin and sweetners. Entries are brief and a 65-reference list is given. (MA)

Limb Loss

MedlinePlus

... in amputation. Injuries, including from traffic accidents and military combat Cancer Birth defects Some amputees have phantom pain, which is the feeling of pain in the missing limb. Other physical problems include surgical complications and skin problems, if you ...

Staphylococcus aureus and Pregnancy

MedlinePlus

Staphylococcus aureus (Staph Infection) In every pregnancy, a woman starts out with a 3-5% chance of having ... risk. This sheet talks about whether exposure to staphylococcus aureus may increase the risk for birth defects over ...

Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan

PubMed Central

Watanabe, Hideto; Nakata, Ken; Kimata, Koji; Nakanishi, Isao; Yamada, Yoshihiko

1997-01-01

Mouse cartilage matrix deficiency (cmd) is an autosomal recessive disorder caused by a genetic defect of aggrecan, a large chondroitin sulfate proteoglycan in cartilage. The homozygotes (−/−) are characterized by cleft palate and short limbs, tail, and snout. They die just after birth because of respiratory failure, and the heterozygotes (+/−) appear normal at birth. Here we report that the heterozygotes show dwarfism and develop spinal misalignment with age. Within 19 months of age, they exhibit spastic gait caused by misalignment of the cervical spine and die because of starvation. Histological examination revealed a high incidence of herniation and degeneration of vertebral discs. Electron microscopy showed a degeneration of disc chondrocytes in the heterozygotes. These findings may facilitate the identification of mutations in humans predisposed to spinal degeneration. PMID:9192671

Sirenomelia in Argentina: Prevalence, geographic clusters and temporal trends analysis.

PubMed

Groisman, Boris; Liascovich, Rosa; Gili, Juan Antonio; Barbero, Pablo; Bidondo, María Paz

2016-07-01

Sirenomelia is a severe malformation of the lower body characterized by a single medial lower limb and a variable combination of visceral abnormalities. Given that Sirenomelia is a very rare birth defect, epidemiological studies are scarce. The aim of this study is to evaluate prevalence, geographic clusters and time trends of sirenomelia in Argentina, using data from the National Network of Congenital Anomalies of Argentina (RENAC) from November 2009 until December 2014. This is a descriptive study using data from the RENAC, a hospital-based surveillance system for newborns affected with major morphological congenital anomalies. We calculated sirenomelia prevalence throughout the period, searched for geographical clusters, and evaluated time trends. The prevalence of confirmed cases of sirenomelia throughout the period was 2.35 per 100,000 births. Cluster analysis showed no statistically significant geographical aggregates. Time-trends analysis showed that the prevalence was higher in years 2009 to 2010. The observed prevalence was higher than the observed in previous epidemiological studies in other geographic regions. We observed a likely real increase in the initial period of our study. We used strict diagnostic criteria, excluding cases that only had clinical diagnosis of sirenomelia. Therefore, real prevalence could be even higher. This study did not show any geographic clusters. Because etiology of sirenomelia has not yet been established, studies of epidemiological features of this defect may contribute to define its causes. Birth Defects Research (Part A) 106:604-611, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Congenital cardiac malformations in relation to central venous access.

PubMed

Thompson, Christine

During the third and seventh weeks of gestation, teratogenic exposure may lead to fetal abnormality such as congenital heart defects or intrauterine death. Congenital heart defects are present from birth, but may appear at any time, or only revealed postmortem. Often defects are present by degree. Some defects are life-threatening, while other, less severe conditions, may have minimal physiological impact. Left superior vena cava exists in early embryonic development, but the vessel degenerates as the cardiovascular system matures. When not associated with other malformations, an incidence of persistent left-sided superior vena cava (PLSVC) has no clinical signs or symptoms. However, it may not be as innocuous as it appears due to its association with the cyanotic defect, tetralogy of Fallot (TOF). Using a case history as an illustration it can be shown that all cases of defect or chromosomal suspicion should be documented as there may be implications for future interventions.

Social aspects of low birth weight.

PubMed

Dunn, H G

1984-05-01

The categories of low birth weigth infants, social vs. racial factors, factors increasing the risk of low birth weight, prevention of low birth weight, social factors in the development of low birth weight children, the influence of social factors vs. other variables, and implications for management are reviewed. In 1948 the World Health Assembly designated children who were born weighing 2500 g or less as "immature" and further stated that a liveborn infant with a period of gestation of less than 37 weeks or specified as "premature" may be considered as the equivalent of an immature event. In 1961 it was recommended that babies weighing 2500 g or less should no longer be referred to as being "premature" and that the concept of "prematurity" in the definition should give way to that of "low birth weight." Intrauterine growth curves for liveborn males and females were devised from data on birth weight and gestational age. Infants born prior to 37 completed weeks of gestation whose weight lies between the 10th and 90th percentiles on such curves may be called preterm with a weight appropriate for gestational age (AGA), whereas infants born after any length of gestation whose birth weight is at or below the 10th percentile may be named hypotrophic or small for gestational age (SGA). On a worldwide scale it has been estimated that about 22 million low birth weight babies, representing roughly 1/6 of all births, are born alive each day. Only about 1 million of them (mostly preterm) are born in developed countries; of the 21 million born in developing areas, roughly 16 million are SGA full-term and not preterm babies. Socioeconomic status appears as 1 of the most important dterminants of the ultimate level of brain function in children of low birth weight, and this is true with respect to neurologic, psychologic, and educational outcome. Social class also has an indirect effect through birth weight, frequency of perinatal brain injury, and other biological variables as well as maternal habits, the quality of nutrition and health care for mother and child, and other "culture factors." The following seem important facets of the management of low birth weight children: optimal obstetric and perinatal care; "bonding" by parents visiting the intensive care nursery and handling the infant; anticipatory guidance; regular pediatric follow-up for at-risk infants; infant stimulation; early correction of refractive errors, strabismus, other visual defects, hearing defects and orthopedic deformities; and developmental assessments and school readiness tests.

Maternal iron intake during pregnancy and birth outcomes: a cross-sectional study in Northwest China.

PubMed

Yang, Jiaomei; Cheng, Yue; Pei, Leilei; Jiang, Yufen; Lei, Fangliang; Zeng, Lingxia; Wang, Quanli; Li, Qiang; Kang, Yijun; Shen, Yuan; Dang, Shaonong; Yan, Hong

2017-03-01

Previous studies have yielded conflicting results on the associations of maternal Fe intake with birth outcomes. This study aimed to investigate the associations between maternal Fe intake (total Fe from diet and supplements, dietary total Fe, haeme Fe, non-haeme Fe and Fe supplements use) and adverse birth outcomes in Shaanxi Province of Northwest China. In all, 7375 women were recruited using a stratified multistage random sampling method at 0-12 months (median 3; 10th-90th percentile 0-7) after delivery. Diets were collected by a validated FFQ and maternal characteristics were obtained via a standard questionnaire. The highest tertile of haeme Fe intake compared with the lowest tertile was negatively associated with low birth weight (LBW) (OR 0·68; 95 % CI 0·49, 0·94), small for gestational age (SGA) (OR 0·76; 95 % CI 0·62, 0·94) and birth defects (OR 0·55; 95 % CI 0·32, 0·89). Maternal haeme Fe intake was associated with a lower risk of intra-uterine growth retardation (IUGR) (medium tertile v. lowest tertile: OR 0·78; 95 % CI 0·61, 0·95; highest tertile v. lowest tertile: OR 0·76; 95 % CI 0·59, 0·93; P trend=0·045). The OR of LBW associated with Fe supplements use were as follows: during pregnancy: 0·72 (95 % CI 0·50, 0·95); in the second trimester: 0·67 (95 % CI 0·42, 0·98); in the third trimester: 0·47 (95 % CI 0·24, 0·93). We observed no associations of total Fe, dietary total Fe or non-haeme Fe intake with birth outcomes. The results suggest that maternal haeme Fe intake is associated with a reduced risk of LBW, SGA, IUGR and birth defects, and Fe supplements use during pregnancy reduces LBW risk.

Impact of birth characteristics, breast feeding and vital statistics on the eruption of primary teeth among healthy infants in Saudi Arabia: an observational study.

PubMed

Alnemer, Kholoud Abdullah; Pani, Sharat Chandra; Althubaiti, Alaa M; Bawazeer, Manal

2017-12-15

This study aimed to explore the impact of gender, birth weight, maternal age, type of delivery, gestational age and feeding practices on the eruption of teeth in children with no underlying medical conditions or developmental defects in their first year of life. A cross-sectional observational study design was used. A primary healthcare setting in Riyadh, Saudi Arabia. All children in their first year of life attending a vaccination clinic (n=422) were included in the study. Infants with chronic childhood illnesses, those who were below the 5th percentile in height or weight, infants with congenital birth defects and chronic illnesses, infants who were born preterm and low birth weight infants were excluded from the study. The type of delivery, birth weight, age of mother, height and weight percentile for age (as plotted on the WHO growth chart for infants) and feeding practices were recorded by the examiner, and this was followed by a clinical examination to determine the presence or absence of each tooth. Regression models were developed to determine the effect of the different variables on the presence of primary teeth. There was a significant association between the weight percentile of the child (adjusted for age) and the number of erupted primary teeth, suggesting that heavier children have an earlier eruption of teeth. No association was observed between birth weight, height percentile for age or maternal age at the time of birth and the number of erupted primary teeth. Children who were exclusively breast fed were significantly more likely to have an erupted first primary tooth earlier than non-breastfed group. Breast feeding and the weight of the child may have an influence on the eruption of primary teeth in the first year of life. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Risk factors for congenital diaphragmatic hernia in the Bogota birth defects surveillance and follow-up program, Colombia.

PubMed

García, Ana M; Machicado, S; Gracia, G; Zarante, I M

2016-03-01

The mortality rate for congenital diaphragmatic hernia (CDH) remains high and prevention efforts are limited by the lack of known risk factors. The aim of this study was to determine prevalence, risk factors, and neonatal results associated with CDH on a surveillance system hospital-based in Bogotá, Colombia. The data used in this study were obtained from The Bogota Birth Defects Surveillance and Follow-up Program (BBDSFP), between January 2001 and December 2013. With 386,419 births, there were 81 cases of CDH. A case-control methodology was conducted with 48 of the total cases of CDH and 192 controls for association analysis. The prevalence of CDH was 2.1 per 10,000 births. In the case-control analysis, risk factors found were maternal age ≥35 years (OR, 33.53; 95 % CI, 7.02-160.11), infants with CDH were more likely to be born before 37 weeks of gestation (OR, 5.57; 95 % CI, 2.05-15.14), to weigh less than 2500 g at birth (OR, 9.05; 95 % CI, 3.51-23.32), and be small for gestational age (OR, 5.72; 95 % CI, 2.18-14.99) with a high rate of death before hospital discharge in the CDH population (CDH: 38 % vs BBDSFP: <1 %; p < 0.001). The prevalence of CDH calculated was similar to the one reported in the literature. CDH is strongly associated with a high rate of death before hospital discharge and the risk factors found were maternal age ≥35 years, preterm birth, be small for gestational age, and have low weight at birth. These neonatal characteristics in developing countries would help to identify early CDH. Prevention efforts have been limited by the lack of known risk factors and established epidemiological profiles, especially in developing countries.

Guidance for Preventing Birth Defects

MedlinePlus

... of no safe level of marijuana use during pregnancy, women who are pregnant, or considering becoming pregnant, should ... for her during pregnancy. Learn about vaccinations during pregnancy » Pregnant women are more prone to severe illness from the ...

How Do Health Care Providers Diagnose Birth Defects?

MedlinePlus

... NICHD Contacts for Funding Information Peer Review Small Business Programs About the Programs NICHD Priorities Funding Opportunities ... Opportunities Grants Process, Policies & Strategies Peer Review Small Business Programs Training & Career Development For Applicants Sample Applications ...

Microcephaly Information Page

MedlinePlus

... You are here Home » Disorders » All Disorders Microcephaly Information Page Microcephaly Information Page What research is being done? The National ... the U.S. and Worldwide NINDS Clinical Trials Related Information Patient Organizations Birth Defect Research for Children, Inc. ...

Prenatal Influences on the Brain.

ERIC Educational Resources Information Center

Eliot, Lise

2002-01-01

Gives an overview of embryology and prenatal brain, sensory, and motor development. Includes discussion of maternal nutrition, chemical exposure, prenatal drug and alcohol hazards, cigarette smoking, and some causes of neural tube defects and premature birth. (Author/KB)

Malathion.

ERIC Educational Resources Information Center

Brenner, Loretta

1992-01-01

Discusses research findings about malathion, a widely used insecticide, concerning potential for human exposure; how malathion works and is used; toxicity; carcinogenicity; mutagenicity; associated birth defects; reproductive effects; effects on vision, diet, behavior, and immune systems; contaminants and analogues, synergists, residues, inert…

38 CFR 21.8010 - Definitions and abbreviations.

Code of Federal Regulations, 2010 CFR

2010-07-01

... Children of Vietnam Veterans-Spina Bifida and Covered Birth Defects General § 21.8010 Definitions and....814(c)(3) of this title. Vietnam veteran means, in the case of a child suffering from spina bifida...

7 CFR 784.3 - Definitions.

Code of Federal Regulations, 2010 CFR

2010-01-01

... production. Lambing cycle means the period of time from birth to weaning. Parrot mouth means a genetic defect... business enterprise or other legal entity who is, or whose members are, a citizen or citizens of, or legal...

E. Coli and Pregnancy

MedlinePlus

... best live chat Live Help Fact Sheets Share Escherichia coli (E. coli) Friday, 01 September 2017 In every pregnancy, a ... risk. This sheet talks about whether exposure to E. coli may increase the risk for birth defects over ...

Head CT scan

MedlinePlus

Brain CT; Cranial CT; CT scan - skull; CT scan - head; CT scan - orbits; CT scan - sinuses; Computed tomography - cranial; CAT scan - brain ... conditions: Birth (congenital) defect of the head or brain Brain infection Brain tumor Buildup of fluid inside ...

Trazodone (Desyrel) and Pregnancy

MedlinePlus

... birth defects. Can taking trazodone during my pregnancy cause pregnancy complications? One small study found no greater chance ... I need to take trazodone throughout my entire pregnancy. Will it cause withdrawal symptoms in my baby? Antidepressant use late ...

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development

PubMed Central

Tannour-Louet, Mounia; Han, Shuo; Corbett, Sean T.; Louet, Jean-Francois; Yatsenko, Svetlana; Meyers, Lindsay; Shaw, Chad A.; Kang, Sung-Hae L.; Cheung, Sau Wai; Lamb, Dolores J.

2010-01-01

Disorders of sexual development (DSD), ranging in severity from genital abnormalities to complete sex reversal, are among the most common human birth defects with incidence rates reaching almost 3%. Although causative alterations in key genes controlling gonad development have been identified, the majority of DSD cases remain unexplained. To improve the diagnosis, we screened 116 children born with idiopathic DSD using a clinically validated array-based comparative genomic hybridization platform. 8951 controls without urogenital defects were used to compare with our cohort of affected patients. Clinically relevant imbalances were found in 21.5% of the analyzed patients. Most anomalies (74.2%) evaded detection by the routinely ordered karyotype and were scattered across the genome in gene-enriched subtelomeric loci. Among these defects, confirmed de novo duplication and deletion events were noted on 1p36.33, 9p24.3 and 19q12-q13.11 for ambiguous genitalia, 10p14 and Xq28 for cryptorchidism and 12p13 and 16p11.2 for hypospadias. These variants were significantly associated with genitourinary defects (P = 6.08×10−12). The causality of defects observed in 5p15.3, 9p24.3, 22q12.1 and Xq28 was supported by the presence of overlapping chromosomal rearrangements in several unrelated patients. In addition to known gonad determining genes including SRY and DMRT1, novel candidate genes such as FGFR2, KANK1, ADCY2 and ZEB2 were encompassed. The identification of risk germline rearrangements for urogenital birth defects may impact diagnosis and genetic counseling and contribute to the elucidation of the molecular mechanisms underlying the pathogenesis of human sexual development. PMID:21048976

Presence of the 5,10-methylenetetrahydrofolate reductase C677T mutation in Puerto Rican patients with neural tube defects.

PubMed

García-Fragoso, Lourdes; García-García, Inés; de la Vega, Alberto; Renta, Jessicca; Cadilla, Carmen L

2002-01-01

Folic acid supplementation can reduce the incidence of neural tube defects. The first reported genetic risk factor for neural tube defects is a C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene, resulting in decreased activity of the enzyme. We examined the enzyme mutation role of methylenetetrahydrofolate reductase in the etiology of neural tube defects in our population. The study group consisted of 204 Puerto Rican individuals including 37 pregnant females with a prenatal diagnosis of neural tube defects in their fetuses, 31 newborns, 36 fathers, and 100 healthy adults. The prevalence of the C677T mutation was examined. Homozygosity for the alanine to valine substitution (TT) was observed in 9% of the controls and 19% of the mothers with children with neural tube defects. Our results indicate that the presence of the T allele at the methylenetetrahydrofolate reductase 677 position may increase the risk of giving birth to an infant with a neural tube defect.

Annual trends in use of periconceptional folic acid and birth prevalence of major congenital malformations.

PubMed

Richard-Tremblay, Audrey-Ann; Sheehy, Odile; Bérard, Anick

2013-07-01

Recent evidence suggests that periconceptional folic acid use could not only prevent neural tube defects but also other malformations. The objectives of this study were to assess trends in dispensed high dose periconceptional folic acid (5 mg) and birth prevalence of major congenital malformations. The Quebec Pregnancy Registry, an administrative database with information on periconceptional prescribed medication and diagnostic codes was used to conduct this study. All pregnant women insured by the Quebec public drug plan between January 1(st) 1998 and December 31(st) 2008 were included. The exposure was defined as the use of high dose periconceptional folic acid 30 days before, and during the first 70 days of pregnancy. The outcome measured was the birth prevalence of major congenital malformations among live births. We identified 152,392 pregnancies and babies. The annual prevalence of high dose periconceptional folic acid use increased from 0.17% to 0.80% (p<0.05) during the study period; birth prevalence of congenital malformations increased by 15% (3.35% to 3.87%, p<0.05). More specifically, a 23% increase in the prevalence of cardiac malformation and 23% increase in musculoskeletal defects were observed, whereas there was no change in the prevalence of malformations of the nervous system. Although there was an increase in the use of periconceptional high dose folic acid over the past decade, there was no decrease in the prevalence of major congenital malformations. A limitation of this study is the absence of data on low dose folic acid use, available over the counter, in our administrative database.

MTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers

PubMed Central

García-Fragoso, Lourdes; García-García, Inés; Leavitt, Gloria; Renta, Jessicca; Ayala, Miguel A.; Cadilla, Carmen L.

2010-01-01

Congenital heart defects (CHD) are among the most common birth defects. There is evidence suggesting that polymorphisms in folate metabolism could alter susceptibility to CHD. The MTHFR 677TT genotype has been associated with the development of structural congenital heart malformations. The objective of this study was to identify common polymorphisms in the MTHFR gene in children with isolated CHD and their mothers. The DNA analysis for the C677T and A1298C mutations was performed. The study group included 27 mothers, 27 children with CHD, and 220 controls. The prevalence of the TT polymorphism was higher in mothers (22%) than in controls (10%). Compound heterozygosity for both polymorphisms was 3.7 times more common in children with CHD than in the newborn controls. Mothers of children with CHD were more likely to be compound heterozygotes. The higher prevalence of C677T polymorphisms in mothers of children with CHD and of compound heterozygosity for both polymorphisms suggests the possible role of folic acid in the prevention of CHD. Due to the relation of this enzyme to folate metabolism, current folate recommendations for women in childbearing age in Puerto Rico to reduce neural tube defects may need to be extended to the prevention of CHD. PMID:20657745

MTHFR polymorphisms in Puerto Rican children with isolated congenital heart disease and their mothers.

PubMed

García-Fragoso, Lourdes; García-García, Inés; Leavitt, Gloria; Renta, Jessicca; Ayala, Miguel A; Cadilla, Carmen L

2010-03-01

Congenital heart defects (CHD) are among the most common birth defects. There is evidence suggesting that polymorphisms in folate metabolism could alter susceptibility to CHD. The MTHFR 677TT genotype has been associated with the development of structural congenital heart malformations. The objective of this study was to identify common polymorphisms in the MTHFR gene in children with isolated CHD and their mothers. The DNA analysis for the C677T and A1298C mutations was performed. The study group included 27 mothers, 27 children with CHD, and 220 controls. The prevalence of the TT polymorphism was higher in mothers (22%) than in controls (10%). Compound heterozygosity for both polymorphisms was 3.7 times more common in children with CHD than in the newborn controls. Mothers of children with CHD were more likely to be compound heterozygotes. The higher prevalence of C677T polymorphisms in mothers of children with CHD and of compound heterozygosity for both polymorphisms suggests the possible role of folic acid in the prevention of CHD. Due to the relation of this enzyme to folate metabolism, current folate recommendations for women in childbearing age in Puerto Rico to reduce neural tube defects may need to be extended to the prevention of CHD.

EVALUATION AND DIAGNOSIS OF THE DYSMORPHIC INFANT

PubMed Central

Jones, Kelly L.; Adam, Margaret P.

2015-01-01

SYNOPSIS Neonatologists often have the unique opportunity to be the first to identify abnormalities in the neonate. In this review, multiple anomalies and physical features are discussed along with the potential associated genetic syndromes. The anomalies and physical features that are discussed include birth parameters, aplasia cutis congenita, holoprosencephaly, asymmetric crying facies, preauricular ear tags and pits, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, congenital heart defects, ventral wall defects, and polydactyly. PMID:26042903

DNA Statistical Evidence and the Ceiling Principle: Science or Science Fiction

DTIC Science & Technology

1994-03-01

defects were caused by Bendectin , a drug made by the defendant. At trial, Merrell Dow introduced an affidavit from an expert who had reviewed more...than thirty published studies of the drug and found no evidence linking Bendectin to birth defects. He concluded that the drug posed no risk to fetuses...link between Bendectin and the childrens’ deformities. The trial court termed the plaintiffs’ studies unpublished and non-peer-reviewed recalculations