WorldWideScience

Sample records for human birth defects

  1. Birth Defects

    Science.gov (United States)

    A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of ... in the United States is born with a birth defect. A birth defect may affect how the ...

  2. Facts about Birth Defects

    Science.gov (United States)

    ... Button Information For… Media Policy Makers Facts about Birth Defects Language: English (US) Español (Spanish) Recommend ... having a baby born without a birth defect. Birth Defects Are Common Every 4 ½ minutes, a ...

  3. Birth Defects: Cerebral Palsy

    Science.gov (United States)

    ... defects, premature birth and infant mortality. Solving premature birth Featured articles Accomplishments and lessons learned since the ... and pregnancy Folic acid Medicine safety and pregnancy Birth defects prevention Learn how to help reduce your ...

  4. Birth Defects (For Parents)

    Science.gov (United States)

    ... this virus during pregnancy, her child may have low birth weight, intellectual disability (mental retardation) or learning disabilities, ... and central nervous system problems. A child with late congenital syphilis may have abnormalities of the ... Diagnosing Birth Defects Many birth defects are diagnosed even before ...

  5. Diabetes mellitus and birth defects

    Science.gov (United States)

    Correa, Adolfo; Gilboa, Suzanne M.; Besser, Lilah 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 associations between diabetes mellitus and 39 birth defects. STUDY DESIGN This was a multicenter case-control study of mothers of infants who were born with (n = 13,030) and without (n = 4895) birth defects in the National Birth Defects Prevention Study (1997–2003). RESULTS Pregestational diabetes mellitus (PGDM) was associated significantly with noncardiac defects (isolated, 7/23 defects; multiples, 13/23 defects) and cardiac defects (isolated, 11/16 defects; multiples, 8/16 defects). Adjusted odds ratios for PGDM and all isolated and multiple defects were 3.17 (95% CI, 2.20–4.99) and 8.62 (95% CI, 5.27–14.10), respectively. Gestational diabetes mellitus (GDM) was associated with fewer noncardiac defects (isolated, 3/23 defects; multiples, 3/23 defects) and cardiac defects (isolated, 3/16 defects; multiples, 2/16 defects). Odds ratios between GDM and all isolated and multiple defects were 1.42 (95% CI, 1.17–1.73) and 1.50 (95% CI, 1.13–2.00), respectively. These associations were limited generally to offspring of women with prepregnancy body mass index ≥25 kg/m2. CONCLUSION PGDM was associated with a wide range of birth defects; GDM was associated with a limited group of birth defects. PMID:18674752

  6. Birth Defects Research and Tracking

    Science.gov (United States)

    ... used data from the National Birth Defects Prevention Study (NBDPS) to examine maternal asthma medication use during pregnancy and the risk of certain birth defects. (Published October 22, 2014) World Down Syndrome Day Read one mother’s reflection on the birth ...

  7. Intrauterine Infections and Birth Defects

    Institute of Scientific and Technical Information of China (English)

    XIAO-YING ZHENG; XIN-MING SONG; LI-HUA PANG; YING JI; HONG-MEI SUN; LEI ZHANG; JU-FEN LIU; YAN-LING GUO; YAN ZHANG; TING ZHANG; YI-FEI WANG; CHEN XU; GONG CHEN; RUOLEI XIN; JIA-PENG CHEN; XU-MEI HU; QING YANG

    2004-01-01

    Intrauterine infection is an important cause of some birth defects worldwide. The most common pathogens include rubella virus, cytomegaloviurs, ureaplasma urealyticum, toxoplasma, etc. General information about these pathogens in epidemiology, consequence of birth defects, and the possible mechanisms in the progress of birth defects, and the interventions to prevent or treat these pathogens' infections are described. The infections caused by rubella virus, cytomegaloviurs, ureaplasma urealyticum, toxoplasma, etc. are common, yet they are proved to be fatal during the pregnant period, especially during the first trimester. These infections may cause sterility, abortion, stillbirth, low birth weight, and affect multiple organs that may induce loss of hearing and vision, even fetal deformity and the long-term effects. These pathogens' infections may influence the microenvironment of placenta, including levels of enzymes and cytokines, and affect chondriosome that may induce the progress of birth defect. Early diagnosis of infections during pregnancy should be strengthened. There are still many things to be settled, such as the molecular mechanisms of birth defects, the effective vaccines to certain pathogens. Birth defect researches in terms of etiology and the development of applicable and sensitive pathogen detection technology and methods are imperative.

  8. Alarming Rise In Birth Defects

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    A rapid rise in birth defects has prompted China to look for causes and solutionsEvery 60 seconds two children are born in China with a handicap.It’s an alarming fact,but one that young adults across the country who hope to have children face every day. At a conference on the prevention of birth defects in Chengdu of Sichuan Province in September,Vice Minister of the National Population and Family Planning Commission Jiang Fan revealed this inconvenient truth, supported by shocking statistics.

  9. Detecting gene-environment interactions in human birth defects: Study designs and statistical methods.

    Science.gov (United States)

    Tai, Caroline G; Graff, Rebecca E; Liu, Jinghua; Passarelli, Michael N; Mefford, Joel A; Shaw, Gary M; Hoffmann, Thomas J; Witte, John S

    2015-08-01

    The National Birth Defects Prevention Study (NBDPS) contains a wealth of information on affected and unaffected family triads, and thus provides numerous opportunities to study gene-environment interactions (G×E) in the etiology of birth defect outcomes. Depending on the research objective, several analytic options exist to estimate G×E effects that use varying combinations of individuals drawn from available triads. In this study, we discuss important considerations in the collection of genetic data and environmental exposures. We will also present several population- and family-based approaches that can be applied to data from the NBDPS including case-control, case-only, family-based trio, and maternal versus fetal effects. For each, we describe the data requirements, applicable statistical methods, advantages, and disadvantages. A range of approaches can be used to evaluate potentially important G×E effects in the NBDPS. Investigators should be aware of the limitations inherent to each approach when choosing a study design and interpreting results. © 2015 Wiley Periodicals, Inc.

  10. National Birth Defects Prevention Study (NBDPS)

    Science.gov (United States)

    ... Submit Button Information For… Media Policy Makers National Birth Defects Prevention Study (NBDPS) Recommend on Facebook Tweet ... NBDPS is one of the largest studies on birth defects ever undertaken in the United States. This ...

  11. Microcephaly and Other Birth Defects: Zika

    Science.gov (United States)

    ... ol Português 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 pattern of ...

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

    NARCIS (Netherlands)

    Desrosiers, T.A.; Herring, A.H.; Shapira, S.K.; Hooiveld, M.; Luben, T.J.; Herdt-Losavio, M.L.; Lin, S.; Olshan, A.F.

    2012-01-01

    Objectives: 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

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

    OpenAIRE

    Desrosiers, T.A.; Herring, A H; Shapira, S K; Hooiveld, M.; Luben, T.J.; Herdt-Losavio, M.L.; LIN, S.; Olshan, A.F.

    2012-01-01

    Objectives: 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. Me...

  14. Birth defects in children with newborn encephalopathy

    NARCIS (Netherlands)

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

    2000-01-01

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

  15. Birth defects in children with newborn encephalopathy

    NARCIS (Netherlands)

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

    2000-01-01

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

  16. Birth Defects Among Children Born to Human Immunodeficiency Virus-Infected Women Pediatric AIDS Clinical Trials Protocols 219 and 219C

    NARCIS (Netherlands)

    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: A total of 2202 human immunodeficiency virus (HIV)-exposed children enrolled in the Pediatric AIDS Clinical Trials Group 219 and 219 C p

  17. Guidance for Preventing Birth Defects

    Science.gov (United States)

    ... some health problems for the baby, such as low birth weight. It’s never too late to quit smoking. Learn more about smoking during pregnancy » Avoid marijuana and other “street drugs”. A ... a baby who is born preterm, of low birth weight, or has other health problems, such as ...

  18. Birth Defects: What They Are and How They Happen

    Science.gov (United States)

    ... defects, premature birth and infant mortality. Solving premature birth Featured articles Accomplishments and lessons learned since the ... and pregnancy Folic acid Medicine safety and pregnancy Birth defects prevention Learn how to help reduce your ...

  19. Screening Tests for Birth Defects

    Science.gov (United States)

    ... 21 (Down syndrome) . Other trisomies include trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) . A monosomy is ... which there is an extra chromosome. Trisomy 13 (Patau Syndrome): A genetic disorder that causes serious heart defects ...

  20. Swimming pool use and birth defect risk.

    Science.gov (United States)

    Agopian, A J; Lupo, Philip J; Canfield, Mark A; Mitchell, Laura E

    2013-09-01

    Swimming during pregnancy is recommended. However, the use of swimming pools is also associated with infection by water-borne pathogens and exposure to water disinfection byproducts, which are 2 mechanisms that are suspected to increase risk for birth defects. Thus, we evaluated the relationship between maternal swimming pool use during early pregnancy and risk for select birth defects in offspring. Data were evaluated for nonsyndromic cases with 1 of 16 types of birth defects (n = 191-1829) and controls (n = 6826) from the National Birth Defects Prevention Study delivered during 2000-2006. Logistic regression analyses were conducted separately for each birth defect type. Separate analyses were conducted to assess any pool use (yes vs no) and frequent use (5 or more occasions in 1 month) during the month before pregnancy through the third month of pregnancy. There was no significant positive association between any or frequent pool use and any of the types of birth defects, even after adjustment for several potential confounders (maternal race/ethnicity, age at delivery, education, body mass index, folic acid use, nulliparity, smoking, annual household income, surveillance center, and season of conception). Frequent pool use was significantly negatively associated with spina bifida (adjusted odds ratio, 0.68; 95% confidence interval, 0.47-0.99). Among offspring of women 20 years old or older, pool use was associated with gastroschisis (adjusted odds ratio, 1.3; 95% confidence interval, 1.0-1.8), although not significantly so. We observed little evidence suggesting teratogenic effects of swimming pool use. Because swimming is a common and suggested form of exercise during pregnancy, these results are reassuring. Copyright © 2013 Mosby, Inc. All rights reserved.

  1. When Your Baby Has a Birth Defect

    Science.gov (United States)

    ... places to get information include: books written for parents of children with birth defects national organizations such as the March of Dimes, the National Information Center for Children and Youth With Disabilities, and those ... groups or other parents Keep a file with a running list of ...

  2. Reducing Risks of Birth Defects

    Science.gov (United States)

    ... all alcohol while you are pregnant. How can recreational drug use affect my pregnancy? Use of illegal drugs ( ... herpes, syphilis, and infection with human immunodeficiency virus (HIV, the cause of acquired immunodeficiency syndrome [AIDS]). Toxoplasmosis: ...

  3. Zika-Linked Birth Defects Surge in Colombia: CDC

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_162464.html Zika-Linked Birth Defects Surge in Colombia: CDC Study ... born with devastating birth defects linked to the Zika virus is no longer confined to Brazil, a ...

  4. How Do Health Care Providers Diagnose Birth Defects?

    Science.gov (United States)

    ... main types of prenatal tests for birth defects. Amniocentesis 1 Amniocentesis (pronounced am-nee-oh-sen-TEE-sis ) is ... Some birth defects that can be detected with amniocentesis are Down syndrome and certain types of muscular ...

  5. Maternal occupation and the risk of birth defects: an overview from the National Birth Defects Prevention Study.

    NARCIS (Netherlands)

    Herdt-Losavio, M.L.; Lin, S.; Chapman, B.R.; Hooiveld, M.; Olshan, A.; Liu, X.; DePersis, R.D.; Zhu, J.; Druschel, C.M.

    2010-01-01

    OBJECTIVES: To examine the association between a spectrum of 24 maternal occupations and 45 birth defects for hypothesis generating purposes. METHODS: Cases of isolated and multiple birth defects (n = 8977) and all non-malformed live-born control births (n = 3833) included in the National Birth

  6. Maternal occupation and the risk of birth defects: an overview from the National Birth Defects Prevention Study.

    NARCIS (Netherlands)

    Herdt-Losavio, M.L.; Lin, S.; Chapman, B.R.; Hooiveld, M.; Olshan, A.; Liu, X.; DePersis, R.D.; Zhu, J.; Druschel, C.M.

    2010-01-01

    OBJECTIVES: To examine the association between a spectrum of 24 maternal occupations and 45 birth defects for hypothesis generating purposes. METHODS: Cases of isolated and multiple birth defects (n = 8977) and all non-malformed live-born control births (n = 3833) included in the National Birth Defe

  7. Spatiotemporal Property Analysis of Birth Defects in Wuxi, China

    Institute of Scientific and Technical Information of China (English)

    JI-LEI WU; GONG CHEN; XIN-MING SONG; CHENG-FU LI; LEI ZHANG; LAN LIU; XIAO-YING ZHENG

    2008-01-01

    Objective To describe the temporal trends and spatial patterns of birth defects occurring in Wuxi, a developed region of China. Methods Wavelet analysis was used to decompose the temporal trends of birth defect prevalence based on the birth defect rates over the past 16 years. Birth defect cases with detailed personal and family information were geo-coded and the relative risk in each village was calculated. General G statistic was used to test the spatial property with different scales. Results Wavelet analysis showed an increasing temporal trend of birth defects in this region. Clustering analysis revealed that changes continued in the spatial patterns with different scales. Conclusion Wuxi is confronted with severe challenges to reduce birth defect prevalence. The risk factors are stable and show no change with spatial scale but an increasing temporal trend. Interventions should be focused on villages with a higher prevalence of birth defects.

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

    Science.gov (United States)

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

  9. Genetic basis of susceptibility to teratogen induced birth defects.

    Science.gov (United States)

    Wlodarczyk, Bogdan J; Palacios, Ana M; Chapa, Claudia J; Zhu, Huiping; George, Timothy M; Finnell, Richard H

    2011-08-15

    Birth defects remain the leading cause of infant death in US. The field of teratology has been focused on the causes and underlying mechanisms of birth defects for decades, yet our understanding of these critical issues remain unacceptably vague. Conclusions from years of animal and human studies made it clear that the vast majority of birth defects have multifactorial origins, with contributions from environmental and genetic factors. The environment comprises not only of the physical, biological, and chemical external environment surrounding the pregnant woman, but it also includes the internal environment of the woman's body that interact with the developing embryo in a complex fashion. The importance of maternal and embryonic genetic factors consisting of countless genetic variants/mutations that exist within every individual contribute to birth defect susceptibility is only now being more fully appreciated. This great complexity of the genome and its diversity within individuals and populations seems to be the principal reason why the same teratogenic exposure can induce severe malformation in one embryo, while fail to do so to other exposed embryos. As the interaction between genetic and environmental factors has long been recognized as the first "Principle of Teratology" by Wilson and Warkany [1965. Teratology: Principles and techniques. Chicago: University of Chicago Press], it is only recently that the appropriate investigative tools have been developed with which to fully investigate this fundamental principle. The introduction of high throughput technologies like whole genome sequencing or genome-wide association studies are promising to deliver an enormous amount of new data that will shed light on the genomic factors that contribute susceptibility to environmental teratogens. In this review, we attempt to summarize the epidemiological and experimental literature concerning birth defects whose phenotypic expression can be clearly related to the

  10. Birth defects in pregestational diabetes: Defect range,glycemic threshold and pathogenesis

    Institute of Scientific and Technical Information of China (English)

    Rinat Gabbay-Benziv; E Albert Reece; Fang Wang, Peixin Yang

    2015-01-01

    Currently, 60 million women of reproductive age(18-44 years old) worldwide, and approximately 3million American women have diabetes mellitus, andit has been estimated that this number will doubleby 2030. Pregestational diabetes mellitus (PGD) is asignificant public health problem that increases therisk for structural birth defects affecting both maternaland neonatal pregnancy outcome. The most commontypes of human structural birth defects associated withPGD are congenital heart defects and central nervoussystem defects. However, diabetes can induce birthdefects in any other fetal organ. In general, the rateof birth defects increases linearly with the degree ofmaternal hyperglycemia, which is the major factor thatmediates teratogenicity of PGD. Stringent prenatal careand glycemic control are effective means to reducebirth defects in PGD pregnancies, but cannot reducethe incidence of birth defects to the rate of that is seenin the nondiabetic population. Studies in animal modelshave revealed that PGD induces oxidative stress,which activates cellular stress signalling leading todysregulation of gene expression and excess apoptosisin the target organs, including the neural tube andembryonic heart. Activation of the apoptosis signalregulatingkinase 1 (ASK1)-forkhead transcription factor3a (FoxO3a)-caspase 8 pathway causes apoptosis in thedeveloping neural tube leading to neural tube defects(NTDs). ASK1 activates the c-Jun-N-Terminal kinase1/2 (JNK1/2), which leads to activation of the unfoldedprotein response and endoplasmic reticulum (ER) stress.Deletion of the ASK1 gene, the JNK1 gene, or the JNK2gene, or inhibition of ER stress by 4-Phenylbutyric acidabrogates diabetes-induced apoptosis and reduces theformation of NTDs. Antioxidants, such as thioredoxin,which inhibits the ASK1-FoxO3a-caspase 8 pathway orER stress inhibitors, may prevent PGD-induced birthdefects. Gabbay-Benziv R et al . Birth defects in pregestational diabetes

  11. The spatial evaluation of neighborhood clusters of birth defects

    Energy Technology Data Exchange (ETDEWEB)

    Frisch, J.D.

    1990-04-16

    Spatial statistics have recently been applied in epidemiology to evaluate clusters of cancer and birth defects. Their use requires a comparison population, drawn from the population at risk for disease, that may not always be readily available. In this dissertation the plausibility of using data on all birth defects, available from birth defects registries, as a surrogate for the spatial distribution of all live births in the analysis of clusters is assessed. Three spatial statistics that have been applied in epidemiologic investigations of clusters, nearest neighbor distance, average interpoint distance, and average distance to a fixed point, were evaluated by computer simulation for their properties in a unit square, and in a zip code region. Comparison of spatial distributions of live births and birth defects was performed by drawing samples of live births and birth defects from Santa Clara County, determining the street address at birth, geocoding this address and evaluating the resultant maps using various statistical techniques. The proposed method was then demonstrated on a previously confirmed cluster of oral cleft cases. All live births for the neighborhood were geocoded, as were all birth defects. Evaluation of this cluster using the nearest neighbor and average interpoint distance statistics was performed using randomization techniques with both the live births population and the birth defect population as comparison groups. 113 refs., 36 figs., 16 tabs.

  12. Maternal intake of vitamin E and birth defects, National Birth Defects Prevention Study, 1997–2005

    Science.gov (United States)

    Gilboa, Suzanne M.; Lee, Kyung A.; Cogswell, Mary E.; Traven, Flavia K.; Botto, Lorenzo D.; Riehle-Colarusso, Tiffany; Correa, Adolfo; Boyle, Coleen A.

    2015-01-01

    Background In a recent study, high maternal periconceptional intake of vitamin E was found to be associated with risk of congenital heart defects (CHDs). To explore this association further, we investigated the association between total daily vitamin E intake and selected birth defects. Methods We analyzed data from 4,525 controls and 8,665 cases from the 1997–2005 National Birth Defects Prevention Study. We categorized estimated periconceptional energy-adjusted total daily vitamin E intake from diet and supplements into quartiles (referent, lowest quartile). Associations between quartiles of energy-adjusted vitamin E intake and selected birth defects were adjusted for demographic, lifestyle, and nutritional factors. Results We observed a statistically significant association with the third quartile of vitamin E intake (OR 1.17; 95% CI 1.01 – 1.35) and all CHDs combined. Among CHD sub-types, we observed associations with left ventricular outflow tract obstruction defects, and its sub-type, coarctation of the aorta and the third quartile of vitamin E intake. Among defects other than CHDs, we observed associations between anorectal atresia and the third quartile of vitamin E intake (OR 1.66; 95% CI 1.01 – 2.72) and hypospadias and the fourth quartile of vitamin E intake (OR 1.42; 95% CI 1.09 – 1.87). Conclusions Selected quartiles of energy-adjusted estimated total daily vitamin E intake were associated with selected birth defects. However, because these few associations did not exhibit exposure-response patterns consistent with increasing risk associated with increasing intake of vitamin E, further studies are warranted to corroborate our findings. PMID:24740457

  13. Beating Birth Defects (A Cup of Health with CDC)

    Centers for Disease Control (CDC) Podcasts

    2013-01-17

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

  14. Systems Biology and Birth Defects Prevention: Blockade of the Glucocorticoid Receptor Prevents Arsenic-Induced Birth Defects

    OpenAIRE

    Ahir, Bhavesh K.; Sanders, Alison P.; Julia E. Rager; Fry, Rebecca C.

    2013-01-01

    Background: The biological mechanisms by which environmental metals are associated with birth defects are largely unknown. Systems biology–based approaches may help to identify key pathways that mediate metal-induced birth defects as well as potential targets for prevention. Objectives: First, we applied a novel computational approach to identify a prioritized biological pathway that associates metals with birth defects. Second, in a laboratory setting, we sought to determine whether inhibiti...

  15. Defects in Human Nature

    Institute of Scientific and Technical Information of China (English)

    黄靓

    2008-01-01

    By tracing the defects of society back to the defects of human nature, humanity's essence is proved to be inherent evil. Man's natural tendency to do evil remain harnessed through the controls and conventions imposed by civilization, however, when rules or civilization are weakened, man' s dark side is unleashed.

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

    African Journals Online (AJOL)

    The principal BD as per the International Classification of Diseases-10 (ICD-10) ... On the other hand, consanguinity and low birth weight were associated with ... Key words: Birth defects, inborn errors of metabolism, newborn, Saudi Arabia ...

  17. Birth Defects in the Newborn Population: Race and Ethnicity

    Directory of Open Access Journals (Sweden)

    Alexander C. Egbe

    2015-06-01

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

  18. A Prescription for the Prevention of Birth Defects.

    Science.gov (United States)

    Slavkin, Harold C.

    1984-01-01

    Factors influencing birth defects include maternal age (teenagers and women over 32 are at risk), genetics, drug use, diet habits, and environmental hazards. The physical, social, and economic costs of birth defects are extreme. Prevention must involve efforts to change some of these factors. (Author/CS)

  19. Seasonality in birth defects, agricultural production and urban location.

    Science.gov (United States)

    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.

  20. RESIDENTIAL RADON AND BIRTH DEFECTS: A POPULATION-BASED ASSESSMENT

    Science.gov (United States)

    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

  1. New Guidelines Reaffirm Prenatal Folic Acid to Curb Birth Defects

    Science.gov (United States)

    ... https://medlineplus.gov/news/fullstory_162970.html New Guidelines Reaffirm Prenatal Folic Acid to Curb Birth Defects ... HealthDay News) -- In a recommendation that reaffirms previous guidelines, the U.S. Preventive Services Task Force said that ...

  2. Birth Defects from Zika More Far-Reaching Than Thought

    Science.gov (United States)

    ... gov/news/fullstory_162538.html Birth Defects From Zika More Far-Reaching Than Thought Studies found greater ... 14, 2016 WEDNESDAY, Dec. 14, 2016 (HealthDay News) -- Zika's ability to damage the infant brain may be ...

  3. Maternal occupation and the risk of birth defects: an overview from the National Birth Defects Prevention Study.

    Science.gov (United States)

    Herdt-Losavio, M L; Lin, S; Chapman, B R; Hooiveld, M; Olshan, A; Liu, X; DePersis, R D; Zhu, J; Druschel, C M

    2010-01-01

    To examine the association between a spectrum of 24 maternal occupations and 45 birth defects for hypothesis generating purposes. Cases of isolated and multiple birth defects (n = 8977) and all non-malformed live-born control births (n = 3833) included in the National Birth Defects Prevention Study (NBDPS) with estimated dates of delivery from 1 October 1997 through 31 December 2003 were included. A computer-assisted telephone interview with mothers was conducted. Occupational coding using the 2000 Standard Occupational Classification System and the 1997 North American Industry Classification System was completed for all jobs held by mothers. Jobs held from 1 month before pregnancy to the end of the third pregnancy month were considered exposures. Logistic regression models were run, adjusted for potential confounders. We also used a Bayesian approach to logistic regression. Approximately 72% of case mothers and 72% of control mothers in the NBDPS were employed. Several occupational groups were positively associated with one or more birth defects, including janitors/cleaners, scientists and electronic equipment operators. Using standard logistic regression, we found 42 (26 for Bayesian) significantly elevated risks of birth defects in offspring of working mothers. In addition, several other occupational groups were found to be negatively associated with one or more birth defects, including teachers and healthcare workers. Using standard logistic regression, we found 12 (11 for Bayesian) significantly reduced risks of birth defects among offspring of working women. Results from these analyses can be used for hypothesis generating purposes and guiding future investigations of occupational exposures and birth defects.

  4. Geocoding capacity of birth defects surveillance programs: results from the National Birth Defects Prevention Network Geocoding Survey.

    Science.gov (United States)

    Wang, Ying; O'Leary, Leslie A; Rickard, Russel S; Mason, Craig A

    2010-01-01

    A Web-based survey focusing on geocoding of birth defects data was developed and administrated to gain an understanding of the capacity of state birth defects programs to geocode maternal residence and to identify barriers to geocoding birth defects data. The survey consisted of 21 questions related to geocoding of maternal residence, type of software used, barriers to geocoding, and data linkage. In August 2007, an e-mail with a Web link to the survey was sent to all state birth defects program contacts in the United States, including the District of Columbia, Puerto Rico, and the Centers for Disease Control and Prevention (CDC) requesting they complete the online survey. By October 2007, 39 (74%) out of 53 birth defects program contacts completed the survey. Although nearly all birth defects programs collect maternal residential data, many are not currently geocoding that data. Results indicated that 97% of the programs that completed the survey reported they collected data on maternal residence, 53% of which reported that the birth defects surveillance data were geocoded to the street address level using maternal residential address at delivery. Twenty six percent of the programs that do not currently geocode the data identified "Software and address reference file are not available" as the most significant barrier to geocoding; another 16% chose "Lack of funding" as the most significant barrier to geocoding. Since geocoding is an important component of spatial analyses used to detect potential clusters of birth defects, leveraging resources to overcome the barriers that prevent programs from geocoding is important.

  5. Birth defects after use of antithyroid drugs in early pregnancy

    DEFF Research Database (Denmark)

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

    2017-01-01

    .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). CONCLUSIONS: MMI and PTU were associated with subtypes of birth defects previously reported, but the frequency...

  6. The Survey of Birth Defects Rate Based on Birth Registration System

    Directory of Open Access Journals (Sweden)

    Min Yu

    2015-01-01

    Conclusions: A downward trend of birth defects was observed in Xi′an City from 2003 to 2012. NTDs significantly decreased after large-scale supplemental folic acid intervention, while the incidence rate of CHD significantly increased.

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

    DEFF Research Database (Denmark)

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

    2007-01-01

    using Poisson regression. RESULTS: Risk of fatal birth defect was elevated in relation to history of any maternal admission and also with affective disorders specifically, although the strongest effect found was with maternal schizophrenia. The rate was more than doubled in this group compared...... to the general population [relative risk (RR) 2.34, 95% confidence interval (CI) 1.45-3.77], which also represented a significant excess risk compared with all other admitted maternal disorders (p=0.018). Risk of death from causes other than birth defect was no higher with schizophrenia than with other maternal...... conditions. There was no elevation in risk of fatal birth defect if the father was admitted with schizophrenia or any other psychiatric diagnosis. CONCLUSIONS: There are many possible explanations for a higher risk of fatal birth defect with maternal schizophrenia and affective disorder. These include...

  8. Birth defects in India: Hidden truth, need for urgent attention

    Directory of Open Access Journals (Sweden)

    Rinku Sharma

    2013-01-01

    Indian people are living in the midst of risk factors for birth defects, e.g., universality of marriage, high fertility, large number of unplanned pregnancies, poor coverage of antenatal care, poor maternal nutritional status, high consanguineous marriages rate, and high carrier rate for hemoglobinopathies. India being the second most populous country with a large number infant born annually with birth defects should focus its attention on strategies for control of birth defects. Many population based strategies such as iodization, double fortification of salt, flour fortification with multivitamins, folic acid supplementation, periconceptional care, carrier screening and prenatal screening are some of proven strategies for control of birth defects. Strategies such as iodization of salt in spite of being initiated for a long time in the past do have a very little impact on its consumption (only 50% were using iodized salt. Community genetic services for control of birth defects can be easily flourished and integrated with primary health care in India because of its well established infrastructure and personnel in the field of maternal and child health care. As there is wide variation for infant mortality rate (IMR in different states in India, so there is a need of deferential approach to implement community genetic services in states those had already achieved national goal of IMR. On the other hand, states those have not achieved the national goal on IMR priority should be given to management of other causes of infant mortality.

  9. Birth order and neural tube defects: a reappraisal.

    Science.gov (United States)

    Vieira, Alexandre R

    2004-01-15

    There is evidence that late birth order is associated with some complex disorders. For neural tube defects (NTDs) there is no consensus as to whether first or increased birth order is associated or not. A meta-analysis of published data on NTDs was carried out to ascertain whether there is an increased risk for children first born or of high birth order to have NTDs. All data available with information regarding the frequency of live births and NTDs cases by birth order (1, 2, 3, and 4 or more) were included in the analysis. Effect sizes calculations were performed. Children with higher birth order are more likely to have spina bifida but not anencephaly. This same effect was also seen for all NTDs combined, which probably reflects the association with spina bifida. These results suggest the compilation of anencephaly and spina bifida data can be the explanation for the controversies seen in the literature.

  10. The Association Between Reported Venlafaxine Use in Early Pregnancy and Birth Defects, National Birth Defects Prevention Study, 1997–2007

    Science.gov (United States)

    Polen, Kara ND; Rasmussen, Sonja A; Riehle-Colarusso, Tiffany; Reefhuis, Jennita

    2015-01-01

    Background Few epidemiologic studies have investigated the use of venlafaxine (Effexor®), an antidepressant used to treat major depression and anxiety disorders in adults, during pregnancy. Our objective was to determine whether use of venlafaxine during pregnancy is associated with specific birth defects. Methods We used data from the National Birth Defects Prevention Study (NBDPS), a population-based, case-control study in the United States. Our analysis included mothers with pregnancies affected by one of 30 selected birth defects (cases) and babies without birth defects (controls) with estimated dates of delivery between 1997–2007. Exposure was any reported use of venlafaxine from one month preconception through the third month of pregnancy. We calculated adjusted odds ratios (aORs) and 95% Fisher’s Exact confidence intervals (CIs) for 24 birth defect groups for which at least 400 case mothers were interviewed. Our adjusted analyses controlled for maternal age and race-ethnicity. Results Among the 27,045 NBDPS participants who met inclusion criteria, 0.17% (14/8,002) of control mothers and 0.40% (77/19,043) of case mothers reported any use of venlafaxine from one month preconception through the third month of pregnancy. Statistically significant associations were found for anencephaly, atrial septal defect (ASD) secundum or ASD not otherwise specified, coarctation of the aorta, cleft palate, and gastroschisis. Conclusions Our data suggest associations between periconceptional use of venlafaxine and some birth defects. However, sample sizes were small, confidence intervals were wide, and additional studies are needed to confirm these results. PMID:23281074

  11. Laterality Defects in the National Birth Defects Prevention Study (1998–2007): Birth Prevalence and Descriptive Epidemiology

    Science.gov (United States)

    Lin, Angela E.; Krikov, Sergey; Riehle-Colarusso, Tiffany; Frías, Jaime L.; Belmont, John; Anderka, Marlene; Geva, Tal; Getz, Kelly D.; Botto, Lorenzo D.

    2015-01-01

    Little is known epidemiologically about laterality defects. Using data from the National Birth Defects Prevention Study (NBDPS), a large multi-site case-control study of birth defects, we analyzed prevalence and selected characteristics in children born with laterality defects born from 1998 to 2007. We identified 517 nonsyndromic cases (378 heterotaxy, 73.1%; 139 situs inversus totalis [SIT], 26.9%) resulting in an estimated birth prevalence of 1.1 per 10,000 live births (95% confidence interval 1.0–1.2). Prevalence did not differ significantly across sites, over time, or by inclusion of pregnancy termination. Laterality defects were more common among preterm cases compared to term cases, and in children born to mothers who were non-white or younger than 20 years compared to white mothers or those age 25–29 years. The distribution of associated cardiac and extracardiac defects, excluding the expected heterotaxy anomalies, varied by type of laterality defect. Cases with heterotaxy were significantly more likely than those with SIT to have double outlet right ventricle, atrioventricular canal defects, pulmonary stenosis, non-tetralogy of Fallot pulmonary atresia with ventricular septal defect, totally and partially anomalous pulmonary venous return; also more likely to have orofacial clefts, esophageal atresia, bowel atresias, and omphalocele, though not reaching statistical significance. Relatively more common among cases with SIT were Dandy-Walker malformation, anotia/microtia, and limb deficiency. The similarity in the demographic characteristics of heterotaxy and SIT supports the hypothesis that they are part of a continuum of abnormal left-right axis patterning. These findings on laterality defects may help guide clinical care, future research, and prevention strategies. PMID:25099286

  12. Folic acid and primary prevention of birth defects.

    Science.gov (United States)

    Taruscio, Domenica; Carbone, Pietro; Granata, Orietta; Baldi, Francesca; Mantovani, Alberto

    2011-01-01

    Birth defects (BDs) are an important public health problem, due to their overall incidence, occurring in 2-3% of live births in European Union. Neural tube defects (NTDs) are among major NTDs, due to their severity and relatively high incidence; in the meanwhile NTDs are also the most effectively preventable BDs to date. In particular, an adequate folic acid (FA) intake reduces both the occurrence and the recurrence of NTDs; FA is the synthetic form of folates, naturally occurring vitamins in a number of foods, especially vegetables. The daily intake of 0.4 mg of FA should be recommended to all women of childbearing age who plan to become pregnant. The Italian Network for Primary Prevention of BDs through FA Promotion has achieved a significant improvement in FA awareness and use in the periconceptional period. Nevertheless, primary prevention of BDs needs to make further progress; the Italian National Centre for Rare Diseases participates in european sureveillance of congenital anomalies (EUROCAT) Joint Action as coordinator of activities on the effectiveness of BDs prevention. Mandatory food fortification with FA has not been introduced in any European country. The health benefits of FA in reducing the risk of NTDs are undisputed; however mechanistic and animal studies suggest a relationship between high FA intakes and increased cancer promotion, while human studies are still inconsistent and inconclusive. A Working Group organized by the European Food Safety Authority pointed out significant uncertainties about fortification safety and the need for more studies; currently, FA intake from fortified foods and supplements should not exceed 1 mg/day in adults. In conclusion, based on up-to-date scientific evidence, the Italian Network strategy pivots on periconceptional supplementation integrated with promotion of healthy eating habits, support to health education, enhancing the role of women in managing life choices about their health and pregnancy and increasing

  13. Evaluating alcohol related birth defects in the past

    DEFF Research Database (Denmark)

    Shuler, Kristrina A.; Schroeder, Hannes

    2013-01-01

    Alcohol Related Birth Defects (ARBD) are yet undocumented among past communities, although alcohol is the leading cause of non-heritable birth defects in the US today. We evaluate potential ARBD at Newton Plantation, Barbados (ca. 1660-1820), where earlier studies suggest frequent, community......-wide consumption of lead-tainted rum by enslaved Africans. Skeletons excavated in 1997-1998 (n= 45) were examined for congenital anomalies, using clinical/experimental descriptions to differentially diagnose possible ARBD. Enamel lead data served as a proxy for developmental exposure to tainted rum in a subsample...

  14. Antihistamines and Birth Defects: A Systematic Review of the Literature

    Science.gov (United States)

    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

  15. The Survey of Birth Defects Rate Based on Birth Registration System

    Institute of Scientific and Technical Information of China (English)

    Min Yu; Zhiguang Ping; Shuiping Zhang; Yuying He; Rui Dong; Xiong Guo

    2015-01-01

    Background:To investigate the surveillance trend of birth defects,incidence,distribution,occurrence regularity,and their relevant factors in Xi'an City in the last 10 years for proposing control measures.Methods:The birth defects monitoring data of infants during perinatal period (28 weeks of gestation to 7 days after birth) were collected from obstetrics departments of all hospitals during 2003-2012.Microsoft Excel 2003 was used for data input,and Statistical Package for the Social Sciences version 16.0 (International Business Machines Corporation,New York,NY,USA) was used for descriptive analysis.x2 test,Spearman correlation and linear-by-linear association trend test were used for statistical analyses.Results:The birth defect rate declined from 9.18% in 2003 to 7.00% in 2012 (x2 =45.00 l,P < 0.01) with a mean value of 7.85%,which is below the Chinese national average level (x2 =20.451,P < 0.01).The order of five most common birth defects has changed.The incidence of congenital heart disease (CHD) increased with time,particularly after 2012,it became the most frequent type (rs =0.808,P < 0.001).Till then,the number of neural tube defects (NTDs) declined significantly (x2 =76.254,P < 0.01).The average birth defects rate of 8.11% in rural areas was higher than that in urban areas (7.56%,x2 =7.919,P < 0.01) and much higher in males (8.28%) than that in females (7.18%,x2 =32.397,P < 0.0 1).Maternal age older than 35 years (x2 =35.298,P < 0.01) is the most dangerous age bracket of birth defects than maternal age younger than 20 years (x2 =7.128,P < 0.0l).Conclusions:A downward trend of birth defects was observed in Xi'an City from 2003 to 2012.NTDs significantly decreased after large-scale supplemental folic acid intervention,while the incidence rate of CHD significantly increased.

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

    DEFF Research Database (Denmark)

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

    2007-01-01

    BACKGROUND: Few large studies describe links between maternal mental illness and risk of major birth defect in offspring. Evidence is sparser still for how effects vary between maternal diagnoses and no previous study has assessed risk with paternal illnesses.MethodA population-based birth cohort...... genetic effects directly linked with maternal illness, lifestyle factors (diet, smoking, alcohol and drugs), poor antenatal care, psychotropic medication toxicity, and gene-environment interactions. Further research is needed to elucidate the causal mechanisms......BACKGROUND: Few large studies describe links between maternal mental illness and risk of major birth defect in offspring. Evidence is sparser still for how effects vary between maternal diagnoses and no previous study has assessed risk with paternal illnesses.MethodA population-based birth cohort...... was created by linking Danish national registers. We identified all singleton live births during 1973-1998 (n=1.45 m), all parental psychiatric admissions from 1969 onwards, and all fatal birth defects until 1 January 1999. Linkage and case ascertainment were almost complete. Relative risks were estimated...

  17. 1 in 20 Pregnant Women Infected with Zika Have Babies with Birth Defects: CDC

    Science.gov (United States)

    ... html 1 in 20 Pregnant Women Infected With Zika Have Babies With Birth Defects: CDC Report from ... in the U.S. territories who were infected with Zika during pregnancy had babies with serious birth defects, ...

  18. Traffic jam in the primitive streak: the role of defective mesoderm migration in birth defects.

    Science.gov (United States)

    Herion, Nils J; Salbaum, J Michael; Kappen, Claudia

    2014-08-01

    Gastrulation is the process in which the three germ layers are formed that contribute to the formation of all major tissues in the developing embryo. We here review mouse genetic models in which defective gastrulation leads to mesoderm insufficiencies in the embryo. Depending on severity of the abnormalities, the outcomes range from incompatible with embryonic survival to structural birth defects, such as heart defects, spina bifida, or caudal dysgenesis. The combined evidence from the mutant models supports the notion that these congenital anomalies can originate from perturbations of mesoderm specification, epithelial-mesenchymal transition, and mesodermal cell migration. Knowledge about the molecular pathways involved may help to improve strategies for the prevention of major structural birth defects.

  19. Birth defects monitoring in underdeveloped countries: an example from Uruguay.

    Science.gov (United States)

    Castilla, E E; Lopez-Camelo, J S; Dutra, G P; Paz, J E

    1991-01-01

    Medical authorities in developing countries are primarily interested in nutritional and infectious diseases. Therefore, activities directed to the prevention and control of low priority illnesses, such as birth defects, need to be particularly effective, simple, and economical. Monitoring of congenital anomalies is one of the preventive activities which can be efficiently performed at very low cost. Guidelines for this are given, and their application exemplified by the case of Uruguay. Uruguay has recently attained an infant mortality rate of 20/1,000, with the congenital anomalies ranking as its second cause. The government of Uruguay, through the Pan American Health Organisation/World Health Organisation (PARO/WHO) called the Estudio Colaborativo Latino Americano de Malformaciones Congenitas (ECLAMC) for advice in order to plan a program for the prevention of birth defects. The recommendations given were based on conclusions drawn from the analysis of data the ECLAMC program has been accumulating, from Uruguay and other Latin-American countries, since 1967. The case of Uruguay clearly indicates that sensible guidelines for birth defects prevention can be provided, after working with this "low priority and uninteresting" group of illnesses for more than twenty years.

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

    Science.gov (United States)

    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...

  1. The primary prevention of birth defects: Multivitamins or folic acid?

    Directory of Open Access Journals (Sweden)

    2004-03-01

    Full Text Available Periconceptional use of folic acid alone or in multivitamin supplements is effective for the primary prevention of neural-tube defects. The Hungarian randomized and two-cohort controlled trials showed that periconceptional multivitamin supplementation can reduce the occurrence of some other structural birth defects, i.e. congenital abnormalities. These findings were supported by many, but not all observational studies. Recently there have been two main debated questions. The first one is whether the use of folic acid alone or folic acid-containing multivitamins is better. The second one is connected with the dilemma of whether high dose of folic acid (e.g. 5 mg might be better than a daily multivitamin with 0.4 – 0.8 mg of folic acid. Comparison of the pooled data of two Hungarian trials using a multivitamin containing 0.8 mg folic acid and the data of the Hungarian Case-Control Surveillance of Congenital Abnormalities using high dose of folic acid seemed to be appropriate to answer these questions. Multivitamins containing 0.4 – 0.8 mg of folic acid were more effective for the reduction of neural-tube defects than high dose of folic acid. Both multivitamins and folic acid can prevent some part of congenital cardiovascular malformations. Only multivitamins were able to reduce the prevalence at birth of obstructive defects of urinary tract, limb deficiencies and congenital pyloric stenosis. However, folic acid was effective in preventing some part of rectal/anal stenosis/atresia, and high dose of folic acid had effect in preventing some orofacial clefts. The findings are consistent that periconceptional multivitamin and folic acid supplementation reduce the overall occurrence of congenital abnormalities in addition to the demonstrated effect on neural-tube defects.

  2. The domestication of human birth

    Directory of Open Access Journals (Sweden)

    Sofija Stefanović

    2006-12-01

    Full Text Available Observations of the burial places of newborns at the prehistoric site at Lepenski Vir (Serbia revealed the possibility that deliveries took place inside houses that were heated. Warm houses provided a thermally stable environment which, in turn, could solve the problem of thermoregulation, that is critical for the survival of babies. In this study it is shown that the creation of these good conditions for giving birth could have been an important step in human evolution that could have led to a demographic expansion.

  3. Birth defects and genetic disorders among Arab Americans--Michigan, 1992-2003.

    Science.gov (United States)

    Yanni, Emad A; Copeland, Glenn; Olney, Richard S

    2010-06-01

    Birth defects and genetic disorders are leading causes of infant morbidity and mortality in many countries. Population-based data on birth defects among Arab-American children have not been documented previously. Michigan has the second largest Arab-American community in the United States after California. Using data from the Michigan Birth Defects Registry (MBDR), which includes information on parents' country of birth and ancestry, birth prevalences were estimated in offspring of Michigan women of Arab ancestry for 21 major categories of birth defects and 12 congenital endocrine, metabolic, and hereditary disorders. Compared with other non-Hispanic white children in Michigan, Arab-American children had similar or lower birth prevalences of the selected types of structural birth defects, with higher rates of certain hereditary blood disorders and three categories of metabolic disorders. These estimates are important for planning preconception and antenatal health care, genetic counseling, and clinical care for Arab Americans.

  4. Fluoxetine and infantile hypertrophic pylorus stenosis : a signal from a birth defects drug exposure surveillance study

    NARCIS (Netherlands)

    Bakker, M.K.; de Walle, H.E.K.; Wilffert, B.; de Jong-van den Berg, L.T.W.

    2010-01-01

    Purpose We report an association found in a surveillance study which systematically evaluated combinations of specific birth defects and drugs used in the first trimester of pregnancy. Method The database of a population-based birth defects registry (birth years 1997-2007) was systematically screene

  5. Application Research of "3+1" Mode for Birth Defects Monitoring

    Institute of Scientific and Technical Information of China (English)

    Hong LIU; Cheng-liang XIONG

    2008-01-01

    Objective To explore the "3+1" monitoring mode for birth defects and quality control measures based on the population,and to obtain the related information data for birth defects.Methods With the community population as the basis,adopting the unified monitoring scheme dominant by the leadership and administration of government,with districts(counties)as the monitoring sites,the "3+1" monitoring mode for birth defects was based on a complete monitoring team with the combination of villages/residents'committees,townships(towns),counties(districts)and the municipality.Demonstration research was carried out in the pilot districts/counties in Chongqing City.Results Birth defects population monitoring system based on population and family planning management and service network was established,and during 2005 and 2006,application research was carried out for the monitoring methods among birth deflects population in the pilot districts(counties),obtaining the relevant information in regional birth defects,with a monitoring coverage of over 99%.Conclusion Fully utilizing the birth management functions of Population and Family Planning System and the advantages of service networks,long term,dynamic birth defects monitoring system based on community population was established,with the integration of birth defects monitoring and regular reproductive health services,obtaining overall birth defects occurrence information in details,providing scientific basis for the government to formulate scientific,practical,economic and effective birth defects intervention policy,so as to improve the quality of the population.

  6. Ambient air pollution and risk of birth defects in Southern California.

    Science.gov (United States)

    Ritz, Beate; Yu, Fei; Fruin, Scott; Chapa, Guadalupe; Shaw, Gary M; Harris, John A

    2002-01-01

    The authors evaluated the effect of air pollution on the occurrence of birth defects ascertained by the California Birth Defects Monitoring Program in neonates and fetuses delivered in southern California in 1987-1993. By using measurements from ambient monitoring stations of carbon monoxide (CO), nitrogen dioxide, ozone, and particulate matter <10 microm in aerodynamic diameter, they calculated average monthly exposure estimates for each pregnancy. Conventional, polytomous, and hierarchical logistic regression was used to estimate odds ratios for subgroups of cardiac and orofacial defects. Odds ratios for cardiac ventricular septal defects increased in a dose-response fashion with increasing second-month CO exposure (odds ratio (OR)(2nd quartile) CO = 1.62, 95% confidence interval (CI): 1.05, 2.48; OR(3rd quartile) CO = 2.09, 95% CI: 1.19, 3.67; OR(4th quartile) CO = 2.95, 95% CI: 1.44, 6.05). Similarly, risks for aortic artery and valve defects, pulmonary artery and valve anomalies, and conotruncal defects increased with second-month ozone exposure. The study was inconclusive for other air pollutants. The authors' results are supported by the specificity of the timing of the effect and some evidence from animal data; however, this is the first known study to link ambient air pollution during a vulnerable window of development to human malformations. Confirmation by further studies is needed.

  7. Interaction between epidemiology and laboratory sciences in the study of birth defects: Design of birth defects risk factor surveillance in metropolitan Atlanta

    Energy Technology Data Exchange (ETDEWEB)

    Lynberg, M.C.; Khoury, M.J. (Dept. of Health and Human Services, Atlanta, GA (United States))

    1993-01-01

    Despite years of research, the etiology of most birth defects remains largely unknown. Interview instruments have been the major tools in the search for environmental causes of birth defects. Because of respondents' problems with recognition and recall, interviews are limited in their capacity to measure certain exposures. Laboratory scientists can have a major impact on defining markers of environmental exposure and genetic susceptibility. The Centers for Disease Control is starting a case-control study of serious birth defects on the basis of a population-based surveillance system for birth defects diagnosed during the first year of life in metropolitan Atlanta, Each year, 300 infants with selected birth defects (case subjects) and 100 population-based control subjects (infants without birth defects) will be enrolled in an ongoing study that will supplement surveillance. In addition to conducting extensive maternal interviews, we will collect blood and urine specimens from case and control subjects and their mothers for laboratory testing. Eventually, some environmental sampling may be incorporated. Particular areas of emphasis are (1) nutritional factors, specifically measuring maternal folic acid levels and other micronutrients (e.g., zinc) to explore their role in the etiology of neural tube defects, (2) substance use, specifically measuring cocaine metabolites in the blood and urine to explore their role for specific vascular disruption defects, and (3) environmental factors such as pesticides and aflatoxins, to explore their potential relationships with specific defects. In addition, a DNA bank will be maintained to evaluate the role of specific candidate genes in the etiology of birth defects. The development and testing of these methods could be useful to assess the interaction between environmental exposures and genetic susceptibility in the etiology of birth defects. 15 refs., 1 fig., 1 tab.

  8. Methodological Approaches to Evaluate Teratogenic Risk Using Birth Defect Registries: Advantages and Disadvantages

    OpenAIRE

    Poletta, Fernando A.; López Camelo, Jorge S.; Gili, Juan A.; Emmanuele Leoncini; CASTILLA, EDUARDO E.; Pierpaolo Mastroiacovo

    2012-01-01

    BACKGROUND: Different approaches have been used in case-control studies to estimate maternal exposure to medications and the risk of birth defects. However, the performance of these approaches and how they affect the odds ratio (OR) estimates have not been evaluated using birth-defect surveillance programmes. The aim of this study was to evaluate the scope and limitations of three case-control approaches to assess the teratogenic risk of birth defects in mothers exposed to antiepileptic medic...

  9. Folic Acid and Birth Defects: A Case Study (Iran

    Directory of Open Access Journals (Sweden)

    Mohammad Bager Hosseini

    2011-01-01

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

  10. Risk of Death Due to Birth Defects Higher if Baby Covered by Medicaid

    Science.gov (United States)

    ... medlineplus.gov/news/fullstory_163268.html Risk of Death Due to Birth Defects Higher If Baby Covered ... defects cause about one in every five infant deaths in the United States. Now, new research finds ...

  11. Associations of birth defects with adult intellectual performance, disability and mortality: population-based cohort study.

    Science.gov (United States)

    Eide, Martha G; Skjaerven, Rolv; Irgens, Lorentz M; Bjerkedal, Tor; Oyen, Nina

    2006-06-01

    Infants born with birth defects have poorer outcomes in terms of mortality and disability, but the long-term intellectual outcome in children with birth defects is generally unknown. We assessed the long-term associations of various birth defects with mortality and disability, and evaluated whether high mortality and disability were reflected in impaired intellectual performance at age 18. In this nationwide cohort study, records of 9,186 males with and 384,384 without birth defects, registered in the Medical Birth Registry of Norway (1967-1979) were linked to the National Conscript Service (1984-1999). Mortality and disability before military draft, and intelligence test score at conscription were the main outcome measures. Males with birth defects had a relative risk for disability of 6.0 compared with males without defects. Disability was low within categories of birth defects associated with low mortality, and high within defect categories associated with high mortality. The relative risk for not being drafted was highest if maternal educational level was low. Heart defects and cleft palate were the only subgroups in which intellectual performance was lower after adjustment for maternal education, maternal age, marital status and birth order. In particular, intellectual performance was not impaired among those with multiple compared with single defects. We conclude that for the majority of birth defect categories in the present birth cohort, our hypothesis that intellectual performance would be impaired was not confirmed. Thus, there seems to be little reason to fear an adverse intellectual outcome in non-disabled surviving infants with birth defects.

  12. Newborn screening for critical congenital heart disease: potential roles of birth defects surveillance programs--United States, 2010-2011.

    Science.gov (United States)

    2012-10-26

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

  13. The relation between antihistamine medication during early pregnancy & birth defects

    Directory of Open Access Journals (Sweden)

    Rabah M. Shawky

    2015-10-01

    Full Text Available Antihistamines are a group of medications which can inhibit various histaminic actions at one of two histamine receptors (H1 or H2. H1 receptor antagonists are used for the relief of allergic dermatological and nondermatological conditions. We will review classes of antihistamines (H1 antagonists and the relationship between specific antihistamines and specific birth defects. Although many findings provide reassurance about the relative safety of many antihistamine drugs and that any malformation reported is most probably caused by chance, studies are still required to assure fetal safety. As pruritus is sometimes troublesome for pregnant women topical medications like emollients should be tried first in the first trimester of pregnancy. Also pregnant women should be advised to consult their health care provider before taking any medication.

  14. Epidemiology of Birth Defects Based on a Birth Defect Surveillance System from 2005 to 2014 in Hunan Province, China.

    Directory of Open Access Journals (Sweden)

    Donghua Xie

    Full Text Available To describe the epidemiology of birth defects (BDs in perinatal infants in Hunan Province, China, between 2005 and 2014.The BD surveillance data of perinatal infants (for stillbirth, dead fetus or live birth between 28 weeks of gestation and 7 days after birth were collected from 52 registered hospitals of Hunan between 2005 and 2014. The prevalence rates of BDs with 95% confidence interval (CI and crude odds ratio (ORs were calculated to examine the associations of infant gender, maternal age, and region (urban vs rural with BDs.From 2005 to 2014, there were a total of 925413 perinatal infants of which 17753 had BDs, with the average prevalence of 191.84 per 10000 PIs (perinatal infants, showing a significant uptrend. The risks of BDs are higher in urban areas versus rural areas (OR = 1.20, in male infants versus female infants (OR = 1.19, and in mothers above age 35 versus those below age 35 (OR = 1.24. The main five types of BDs are Congenital heart defects (CHD, Other malformation of external ear (OMEE, Polydactyly, Congenital malformation of kidney (CMK, and Congenital talipes equinovarus (CTE. From 2005 to 2014, the prevalence rates (per 10000 PIs of CHD and CMK increased significantly from 22.56 to 74 (OR = 3.29, 95%CI: 2.65-4.11 and from 7.61 to 14.62 (OR = 1.92, 95%CI:1.30-2.84, respectively; the prevalence rates of congenital hydrocephalus and neural tube defects (NTDs decreased significantly from 11.8 to 5.29 (OR = 0.45, 95%CI: 0.31-0.65 and from 7.87 to 1.74 (OR = 0.22, 95%CI: 0.13-0.38, respectively.The prevalence rates of specific BDs in perinatal infants in Hunan have changed in the last decade. Urban pregnant women, male perinatal infants, and mothers above age 35 present different prevalence rates of BDs. Wider use of new diagnosis technology, improving the ability of monitoring, strengthening the publicity and education are important to reduce the prevalence of BDs.

  15. Birth Defects Surveillance in the United States: Challenges and Implications of International Classification of Diseases, Tenth Revision, Clinical Modification Implementation.

    Science.gov (United States)

    Mburia-Mwalili, Adel; Yang, Wei

    2014-01-01

    Major birth defects are an important public health issue because they are the leading cause of infant mortality. The most common birth defects are congenital heart defects, neural tube defects, and Down syndrome. Birth defects surveillance guides policy development and provides data for prevalence estimates, epidemiologic research, planning, and prevention. Several factors influence birth defects surveillance in the United States of America (USA). These include case ascertainment methods, pregnancy outcomes, and nomenclature used for coding birth defects. In 2015, the nomenclature used by most birth defects surveillance programs in USA will change from ICD-9-CM to ICD-10-CM. This change will have implications on birth defects surveillance, prevalence estimates, and tracking birth defects trends.

  16. Zika virus and birth defects: an obstetric issue

    Directory of Open Access Journals (Sweden)

    Tochukwu C. Okeke

    2016-08-01

    Full Text Available Zika virus is an emerging mosquito-borne virus that is relatively unknown, unstudied and under-diagnosed, but has potentials to spread to new geographical areas that favour survival of Aedes mosquitoes. It is associated with an alarming rise in babies with microcephaly that require much care and support with a lot of financial assistance. This is a review article on Zika virus and birth defects; a worrisome issue in today's obstetric and medical practices. Since Zika's discovery in Uganda, the virus was known to occur within a narrow equatorial belt from Africa to Asia with no or mild symptoms. It has emerged as a global public health threat over the last decade with accelerated geographic spread of the virus in the last nine years. The risk of Zika virus to the fetus is poorly understood, difficult to quantify and problematic. The causal link between Zika virus and microcephaly was initially speculative, strongly suspected and scientifically unproven. However, on 13th April, 2016, it was concluded that Zika virus is the cause of microcephaly and other severe fetal brain defects. The Center for Disease Control and Prevention (CDC authors reviewed and weighed evidences using established scientific criteria to conclude after a careful review of the report published in the New England Journal of Medicine. There is no prophylaxis, treatment or vaccine to protect against Zika virus infection. However, preventive personal measures are highly recommended to avoid mosquito bites. [Int J Reprod Contracept Obstet Gynecol 2016; 5(8.000: 2488-2496

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

    Science.gov (United States)

    Mai, Cara T; Kirby, Russell S; Correa, Adolfo; Rosenberg, Deborah; Petros, Michael; Fagen, Michael C

    2016-01-01

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

  18. Cancer risk in children and adolescents with birth defects: a population-based cohort study.

    Directory of Open Access Journals (Sweden)

    Lorenzo D Botto

    Full Text Available OBJECTIVE: Birth defects are an increasing health priority worldwide, and the subject of a major 2010 World Health Assembly Resolution. Excess cancer risk may be an added burden in this vulnerable group of children, but studies to date have provided inconsistent findings. This study assessed the risk for cancer in children and young adolescents with major birth defects. METHODS AND FINDINGS: This retrospective, statewide, population-based, cohort study was conducted in three US states (Utah, Arizona, Iowa. A cohort of 44,151 children and young adolescents (0 through 14 years of age with selected major, non-chromosomal birth defects or chromosomal anomalies was compared to a reference cohort of 147,940 children without birth defects randomly sampled from each state's births and frequency matched by year of birth. The primary outcome was rate of cancer prior to age 15 years, by type of cancer and type of birth defect. The incidence of cancer was increased 2.9-fold (95% CI, 2.3 to 3.7 in children with birth defects (123 cases of cancer compared to the reference cohort; the incidence rates were 33.8 and 11.7 per 100,000 person-years, respectively. However, the excess risk varied markedly by type of birth defect. Increased risks were seen in children with microcephaly, cleft palate, and selected eye, cardiac, and renal defects. Cancer risk was not increased with many common birth defects, including hypospadias, cleft lip with or without cleft palate, or hydrocephalus. CONCLUSION: Children with some structural, non-chromosomal birth defects, but not others, have a moderately increased risk for childhood cancer. Information on such selective risk can promote more effective clinical evaluation, counseling, and research.

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

    Science.gov (United States)

    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...

  20. U.S. Health Care Costs from Birth Defects Total Almost $23 Billion a Year

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_163141.html U.S. Health Care Costs From Birth Defects Total Almost $ ... 2017 (HealthDay News) -- About three of every 100 U.S. newborns have a serious birth defect, and health ...

  1. Exploratory spatial data analysis for the identification of risk factors to birth defects

    OpenAIRE

    Song Xinming; Pang Lihua; Chen Gong; Meng Bin; Wang Jinfeng; Wu Jilei; Zhang Keli; Zhang Ting; Zheng Xiaoying

    2004-01-01

    Abstract Background Birth defects, which are the major cause of infant mortality and a leading cause of disability, refer to "Any anomaly, functional or structural, that presents in infancy or later in life and is caused by events preceding birth, whether inherited, or acquired (ICBDMS)". However, the risk factors associated with heredity and/or environment are very difficult to filter out accurately. This study selected an area with the highest ratio of neural-tube birth defect (NTBD) occurr...

  2. Descriptive epidemiology of selected birth defects, areas of Lombardy, Italy, 1999

    Directory of Open Access Journals (Sweden)

    Frassoldi Emanuela

    2007-05-01

    Full Text Available Abstract Background Birth defects are a leading cause of neonatal and infant mortality in Italy, however little is known of the etiology of most defects. Improvements in diagnosis have revealed increasing numbers of clinically insignificant defects, while improvements in treatment have increased the survival of those with more serious and complex defects. For etiological studies, prevention, and management, it is important to have population-based monitoring which provides reliable data on the prevalence at birth of such defects. Methods We recently initiated population-based birth defect monitoring in the Provinces of Mantova, Sondrio and Varese of the Region of Lombardy, northern Italy, and report data for the first year of operation (1999. The registry uses all-electronic source files (hospital discharge files, death certificates, regional health files, and pathology reports and a proven case-generation methodology, which is described. The data were checked manually by consulting clinical records in hospitals. Completeness was checked against birth certificates by capture-recapture. Data on cases were coded according to the four-digit malformation codes of the International Classification of Diseases, Ninth Revision (ICD-9. We present data only on selected defects. Results We found 246 selected birth defects in 12,008 live births in 1999, 148 among boys and 98 among girls. Congenital heart defects (particularly septal defects were the most common (90.8/10,000, followed by defects of the genitourinary tract (34.1/10, 000 (particularly hypospadias in boys, digestive system (23.3/10,000 and central nervous system (14.9/10,000, orofacial clefts (10.8/10,000 and Down syndrome (8.3/10,000. Completeness was satisfactory: analysis of birth certificates resulted in the addition of two birth defect cases to the registry. Conclusion This is the first population-based analysis on selected major birth defects in the Region. The high birth prevalences for

  3. Data input module for Birth Defects Systems Manager.

    Science.gov (United States)

    Knudsen, Kenneth B; Singh, Amar V; Knudsen, Thomas B

    2005-01-01

    The need for a computational bioinformatics infrastructure to manage the vast digital information from functional genomics and proteomics motivated us to develop Birth Defects Systems Manager (BDSM) as an open resource to facilitate analysis and discovery in developmental biology and developmental toxicity. This report describes the design, development and implementation of the data loading module of BDSM, referred to as LoadBDSM. It includes a shared data directory resource that can be granted various levels of security for different research groups or investigators to manage experimental datasets individually or in groups. LoadBDSM allows the upload of data and experiment details using controlled semantics for developmental exposure (toxicant, dosing scenario, intervention), biological sample (species, tissue, stage) and disease outcome (time, risk, phenotype). It adheres to existing controlled vocabulary plus rules of inference (ontologies) for experiment, data and metadata annotations. LoadBDSM extends the capabilities of BDSM to support the emergence of "embryo-formatics" defined here as the data, information and knowledge from genomic sciences applied to, or derived from, an embryological context. This includes, but is not limited to, delineating pathways and biological regulatory networks for specific chemicals or classes of developmental toxicants, developing novel biomarkers indicative of exposure and/or predictive of adverse effects, and integrating modern computing and information technology with data from molecular biology.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-01-01

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

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

    Science.gov (United States)

    2008-05-30

    large intestinal atresia/stenosis 751.2 Anophthalmia/microphthalmia 743.0, 743.1 Pyloric stenosis 750.5 Congenital cataract 743.30-743.34...occurred in US military families worldwide. Data on birth defects were gathered using nationally standardized definitions for major congenital ...745.4 Congenital hip dislocation 754.30, .31, .35 Atrial septal defect 745.5 Reduction deformity, upper limbs 755.20-755.29 Endocardial cushion

  6. Maternal exposure to methotrexate and birth defects: a population-based study.

    Science.gov (United States)

    Dawson, April L; Riehle-Colarusso, Tiffany; Reefhuis, Jennita; Arena, J Fernando

    2014-09-01

    Methotrexate is an anti-folate medication that is associated with increased risk of multiple birth defects. Using data from the National Birth Defects Prevention Study, a case-control study of major birth defects in the United States, we examined mothers exposed to methotrexate. The study population included mothers of live-born infants without major birth defects (controls) and mothers of fetuses or infants with a major birth defect (cases), with expected dates of delivery between October 1997 and December 2009. Mothers of cases and controls were asked detailed questions concerning pregnancy history, demographic information, and exposures in a telephone interview. Approximately 0.06% (n = 16/27,623) of case and 0.04% (n = 4/10,113) of control mothers reported exposure to methotrexate between 3 months prior to conception through the end of pregnancy. Of the 16 case infants, 11 (68.8%) had a congenital heart defect (CHD). The observed CHDs included atrial septal defects, tetralogy of Fallot, valvar pulmonary stenosis, ventricular septal defects (VSDs), and total anomalous pulmonary venous return. One case infant had microtia in addition to a VSD and another had VACTER association. Exposed cases without a CHD had one of the following birth defects: cleft palate, hypospadias, congenital diaphragmatic hernia, or craniosynostosis. Based on a limited number of methotrexate-exposed mothers, our findings support recent case reports suggesting an association between early pregnancy exposure to methotrexate and CHDs. Because of the rarity of maternal periconceptional exposure to methotrexate, long-term, population-based case-control studies are needed to confirm these findings and better evaluate the association between methotrexate and birth defects.

  7. Maternal Exposure to Methotrexate and Birth Defects: a Population-Based Study

    Science.gov (United States)

    Dawson, April L.; Riehle-Colarusso, Tiffany; Reefhuis, Jennita; Arena, J. Fernando

    2015-01-01

    Methotrexate is an anti-folate medication that is associated with increased risk of multiple birth defects. Using data from the National Birth Defects Prevention Study, a case-control study of major birth defects in the United States, we examined mothers exposed to methotrexate. The study population included mothers of live-born infants without major birth defects (controls) and mothers of fetuses or infants with a major birth defect (cases), with expected dates of delivery between October 1997 and December 2009. Mothers of cases and controls were asked detailed questions concerning pregnancy history, demographic information, and exposures in a telephone interview. Approximately 0.06% (n=16/27,623) of case and 0.04% (n=4/10,113) of control mothers reported exposure to methotrexate between three months prior to conception through the end of pregnancy. Of the 16 case infants, 11 (68.8%) had a congenital heart defect (CHD). The observed CHDs included atrial septal defects, tetralogy of Fallot, valvar pulmonary stenosis, ventricular septal defects (VSDs), and total anomalous pulmonary venous return. One case infant had microtia in addition to a VSD and another had VACTER association. Exposed cases without a CHD had one of the following birth defects: cleft palate, hypospadias, congenital diaphragmatic hernia, or craniosynostosis. Based on a limited number of methotrexate-exposed mothers, our findings support recent case reports suggesting an association between early pregnancy exposure to methotrexate and CHDs. Because of the rarity of maternal periconceptional exposure to methotrexate, long-term, population-based case-control studies are needed to confirm these findings and better evaluate the association between methotrexate and birth defects. PMID:24898111

  8. Risk of Birth Defects 20 Times Higher for Zika Moms: CDC

    Science.gov (United States)

    ... Risk of Birth Defects 20 Times Higher for Zika Moms: CDC Finding highlights importance of preventing infection ... 2017 (HealthDay News) -- Pregnant women infected with the Zika virus are 20 times more likely to have ...

  9. Cases of Zika-Linked Birth Defects Dropped in Brazil in 2016

    Science.gov (United States)

    ... medlineplus.gov/news/fullstory_164346.html Cases of Zika-Linked Birth Defects Dropped in Brazil in 2016 ... despite the continued spread of the mosquito-borne Zika virus. Researchers predicted 1,133 cases of microcephaly ...

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

    Science.gov (United States)

    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...

  11. Exploratory spatial data analysis for the identification of risk factors to birth defects

    Directory of Open Access Journals (Sweden)

    Song Xinming

    2004-06-01

    Full Text Available Abstract Background Birth defects, which are the major cause of infant mortality and a leading cause of disability, refer to "Any anomaly, functional or structural, that presents in infancy or later in life and is caused by events preceding birth, whether inherited, or acquired (ICBDMS". However, the risk factors associated with heredity and/or environment are very difficult to filter out accurately. This study selected an area with the highest ratio of neural-tube birth defect (NTBD occurrences worldwide to identify the scale of environmental risk factors for birth defects using exploratory spatial data analysis methods. Methods By birth defect registers based on hospital records and investigation in villages, the number of birth defects cases within a four-year period was acquired and classified by organ system. The neural-tube birth defect ratio was calculated according to the number of births planned for each village in the study area, as the family planning policy is strictly adhered to in China. The Bayesian modeling method was used to estimate the ratio in order to remove the dependence of variance caused by different populations in each village. A recently developed statistical spatial method for detecting hotspots, Getis's 7, was used to detect the high-risk regions for neural-tube birth defects in the study area. Results After the Bayesian modeling method was used to calculate the ratio of neural-tube birth defects occurrences, Getis's statistics method was used in different distance scales. Two typical clustering phenomena were present in the study area. One was related to socioeconomic activities, and the other was related to soil type distributions. Conclusion The fact that there were two typical hotspot clustering phenomena provides evidence that the risk for neural-tube birth defect exists on two different scales (a socioeconomic scale at 6.84 km and a soil type scale at 22.8 km for the area studied. Although our study has limited

  12. Control selection and participation in an ongoing, population-based, case-control study of birth defects: the National Birth Defects Prevention Study.

    Science.gov (United States)

    Cogswell, Mary E; Bitsko, Rebecca H; Anderka, Marlene; Caton, Alissa R; Feldkamp, Marcia L; Hockett Sherlock, Stacey M; Meyer, Robert E; Ramadhani, Tunu; Robbins, James M; Shaw, Gary M; Mathews, T J; Royle, Marjorie; Reefhuis, Jennita

    2009-10-15

    To evaluate the representativeness of controls in an ongoing, population-based, case-control study of birth defects in 10 centers across the United States, researchers compared 1997-2003 birth certificate data linked to selected controls (n = 6,681) and control participants (n = 4,395) with those from their base populations (n = 2,468,697). Researchers analyzed differences in population characteristics (e.g., percentage of births at > or =2,500 g) for each group. Compared with their base populations, control participants did not differ in distributions of maternal or paternal age, previous livebirths, maternal smoking, or diabetes, but they did differ in other maternal (i.e., race/ethnicity, education, entry into prenatal care) and infant (i.e., birth weight, gestational age, and plurality) characteristics. Differences in distributions of maternal, but not infant, characteristics were associated with participation by selected controls. Absolute differences in infant characteristics for the base population versus control participants were controls from hospitals compared with centers that selected controls from electronic birth certificates. These findings suggest that control participants in the National Birth Defects Prevention Study generally are representative of their base populations. Hospital-based control selection may slightly underascertain infants affected by certain adverse birth outcomes.

  13. Maternal Food Insecurity Is Associated with Increased Risk of Certain Birth Defects1,2

    OpenAIRE

    Carmichael, Suzan L.; Yang, Wei; Herring, Amy; Abrams, Barbara; Shaw, Gary M.

    2007-01-01

    Food insecurity represents a lack of access to enough food to meet basic needs. We hypothesized that food insecurity may increase birth defect risks, because it is an indicator of increased stress or compromised nutrition, which are both implicated in birth defect etiologies. This study used population-based case-control data. Included in the analysis were 1,189 case mothers and 695 control mothers who were interviewed by telephone. We calculated a food insecurity score as the number of affir...

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

    Directory of Open Access Journals (Sweden)

    Geiza Cesar Nhoncanse

    2014-03-01

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

  15. Birth defects registries in the genomics era: challenges and opportunities for developing countries.

    Science.gov (United States)

    Thong, Meow-Keong

    2014-01-01

    Birth defects or congenital anomalies are one of the major causes of disability in developed and developing countries. Data on birth defects from population-based studies originating from developing countries are lacking. Increasingly, there is a shift to genetic testing and genomics study of birth defects. However, the translation from bench findings to bedside medicine has been muted. There is a need to address this imbalance where congenital anomalies remained the top etiology for neonatal mortality in developing countries. To build capacity in low resource countries, there is a need for accurate collection and ascertainment of birth defects in developing countries. The systematic collection and analysis of data on major birth defects using birth defects registries (BDRs) are an integral part of all clinical genetic services. Healthcare planners in developing countries must be aware of the advantages and limitations of BDRs. Despite the advent of the genomics era, BDRs are essential to the planning and developing care and prevention services at local and national levels, particularly in low resource or developing countries.

  16. Acardia : Epidemiologic Findings and Literature Review From the International Clearinghouse for Birth Defects Surveillance and Research

    NARCIS (Netherlands)

    Botto, Lorenzo D.; Feldkamp, Marcia L.; Amar, Emmanuelle; Carey, John C.; Castilla, Eduardo E.; Clementi, Maurizio; Cocchi, Guido; de Walle, Hermien E. K.; Halliday, Jane; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Marengo, Lisa K.; Martinez-Frias, Maria-Luisa; Merlob, Paul; Morgan, Margery; Luna Munoz, Leonora; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Mastroiacovo, Pierpaolo

    2011-01-01

    Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth

  17. Acardia : Epidemiologic Findings and Literature Review From the International Clearinghouse for Birth Defects Surveillance and Research

    NARCIS (Netherlands)

    Botto, Lorenzo D.; Feldkamp, Marcia L.; Amar, Emmanuelle; Carey, John C.; Castilla, Eduardo E.; Clementi, Maurizio; Cocchi, Guido; de Walle, Hermien E. K.; Halliday, Jane; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Marengo, Lisa K.; Martinez-Frias, Maria-Luisa; Merlob, Paul; Morgan, Margery; Luna Munoz, Leonora; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Mastroiacovo, Pierpaolo

    2011-01-01

    Acardia is a severe, complex malformation of monozygotic twinning, but beyond clinical case series, very few epidemiologic data are available. The goals of this study were to assess the epidemiologic characteristics of acardia from birth defect registries in the International Clearinghouse for Birth

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

    Science.gov (United States)

    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 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.

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

    NARCIS (Netherlands)

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

    2014-01-01

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

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

    Science.gov (United States)

    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.

  1. Mothers of Kids with Severe Birth Defects May Have Shorter Lives: Study

    Science.gov (United States)

    ... and history of pregnancy complications. Cohen noted that premature death risk was higher among women whose children were born with multiple defects, as opposed to one birth defect. "Of course, we can never make a definitive cause-and-effect determination with a single study," cautioned ...

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

    Science.gov (United States)

    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.

  3. Maternal hypertensive disorders, antihypertensive medication use, and the risk of birth defects: a case-control study

    NARCIS (Netherlands)

    Gelder, M.M.H.J. van; Bennekom, C.M. Van; Louik, C.; Werler, M.M.; Roeleveld, N.; Mitchell, A.A.

    2015-01-01

    OBJECTIVE: To study previously identified associations between specific maternal hypertensive disorders and/or prenatal exposure to antihypertensive medication and birth defects. DESIGN: Case-control study. SETTING: Slone Birth Defects Study, 1998-2010. POPULATION: A total of 5568 cases with birth

  4. Maternal hypertensive disorders, antihypertensive medication use, and the risk of birth defects: a case-control study

    NARCIS (Netherlands)

    Gelder, M.M.H.J. van; Bennekom, C.M. Van; Louik, C.; Werler, M.M.; Roeleveld, N.; Mitchell, A.A.

    2015-01-01

    OBJECTIVE: To study previously identified associations between specific maternal hypertensive disorders and/or prenatal exposure to antihypertensive medication and birth defects. DESIGN: Case-control study. SETTING: Slone Birth Defects Study, 1998-2010. POPULATION: A total of 5568 cases with birth d

  5. Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects

    Directory of Open Access Journals (Sweden)

    Fabricio González-Andrade

    2010-04-01

    Full Text Available Fabricio González-Andrade1, Ramiro López-Pulles21Department of Medicine, Metropolitan Hospital, Quito, Ecuador; 2Science and Technology Process of the Ministry of Public Health, Biomedical Center of the Central University and Regional Autonomic University of the Audes, Quito, Ecuador Universidad Central del Ecuador, Quito, EcuadorAim: This study sets out (a to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; and (b to set the basis for a new National Register of Birth Defects in Ecuador that works as a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Ecuadorian hospitals, using a case-control methodological approach. This is the first report in their class.Methods: The data used in this study are derived from the National Register of Hospital Admission/Discharges of the Instituto Nacional de Estadísticas y Censos; data of the Ministry of Public Health were also used. Ecuador does not have an official Medical Birth Registry or a Congenital Malformations Registry.Results: A total of 51,375 discharges by congenital malformations were registered in a 7-year period. Of these, 16,679 admissions were of children aged less than 1 year of age, with a birth prevalence rate (BPR of 72.33/10,000 births. 77% of the congenital defects registered comprise the 50 most common birth defects observed in this age group. Cleft lip was the most prevalent birth defect in children less than 1 year of age and the second most common defect in children 1 to 5 years of age. Unilateral cleft lip shows a BPR of 4.57/10,000 births; cardiac birth defects as a group have a BPR of 4.2; hydrocephalus a BPR of 3.77; and Down’s syndrome a BPR of 3.70. Undescended testicle was the most prevalent birth defect in children between 1 to 5 years. 9384 children under 1 year of age were male (55.9% and 7053 were female (42.1%. BPR in males was 40.45 and in

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

    Science.gov (United States)

    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

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

    Directory of Open Access Journals (Sweden)

    Zhang Xingguang

    2012-08-01

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

  8. The Association of Maternal Lifestyle with Birth Defects in Shaanxi Province, Northwest China.

    Directory of Open Access Journals (Sweden)

    Leilei Pei

    Full Text Available The main objective was to investigate the burden of birth defects among alive infants and explore the impact of maternal lifestyle during pregnancy on the burden of birth defects in Northwest China.A stratified multi-stage sampling method was used to study infants born during 2010-2013 (and their mothers in Shaanxi province of Northwest China. Socio-demographic information was collected using a structured questionnaire, and medical records from the local hospitals were used to determine the final diagnosis of birth defects. Poisson regression analysis was performed to assess the association between maternal lifestyles during pregnancy and the burden of birth defects, while adjusting for potential confounders.We sampled 29098 infants, of whom 629 (i.e. 216.17 per 10000 were observed to have congenital defects. Cardiovascular system defects (77.32 per 10000 were found to be the most common. Mothers who had ever consumed alcohol during pregnancy were found to have infants with a higher prevalence of some categories of birth defects, including nervous system (Prevalence Rate Ratio, PRR:14.67, 95% CI: 1.94, 110.92, cardiovascular system (PRR:3.22, 95% CI: 1.02, 10.16 and oral clefts (PRR:9.02, 95% CI: 2.08, 39.10 in contrast to infants of mothers without any alcohol consumption. Maternal passive smoking during pregnancy lead to the increased burden of malformations of eye, ear, face and neck (PRR:1.95, 95% CI: 1.15, 3.33, cardiovascular system (PRR:1.70, 95% CI: 1.25, 2.31 and respiratory system (PRR:9.94, 95% CI: 2.37, 41.76 in their newborns. Further, tea or coffee consumption during pregnancy was positively correlated with the burden of specific birth defects, such as cardiovascular system (PRR: 2.44, 95% CI: 1.33, 4.46 and genital organs (PRR:14.72, 95% CI: 1.87, 116.11 among infants.The prevalence of birth defects was high in Shaanxi province of Northwest China. The unhealthy lifestyles of mothers during pregnancy may increase the prevalence of

  9. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Alok Sachan

    2010-01-01

    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  10. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Suresh V

    2010-05-01

    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  11. Computational systems analysis of developmental toxicity: design, development and implementation of a Birth Defects Systems Manager (BDSM).

    Science.gov (United States)

    Singh, Amar V; Knudsen, Kenneth B; Knudsen, Thomas B

    2005-01-01

    Birth defects and developmental disabilities remain an important public health issue worldwide. With the availability of genomic sequences from a growing number of human and model organisms and the rapid expansion of the public repositories holding large-scale gene expression datasets, a computational systems analysis of developmental toxicology can incorporate this vast digital information toward the realization of predictive models for complex disease. Here we describe the initial design, development and implementation of a Birth Defects Systems Manager (BDSM). The project was motivated by the need for a computational-bioinformatics infrastructure to manage vast digital information from functional genomics and for a new knowledge environment specifically engineered for the analysis of developmental processes and toxicities. Proof-of-concept tested BDSM using meta-analysis of gene expression data collected from different laboratories, technology platforms, and study models. The composite dataset incorporated 232 microarray comparisons of RNA samples by single or dual microarray platforms, cDNA or oligonucleotide based probes, and human or mouse sequence information. Preliminary results identified system-level features in the embryonic transcriptome as it reacted to various developmental-teratological stimuli. BDSM is open access through the worldwide web (http://systemsanalysis.louisville.edu/) and can be integrated with other bioinformatics tools and resources to advance the pace of discovery in birth defects research.

  12. The Relationship between Drug-and Chemical-exposure and Birth Defects during Pregnancy

    Institute of Scientific and Technical Information of China (English)

    沈启芳; 张忠恕; 方可娟; 丁亦诺; 顾江; 王仁礼; 杨跃英; 李海放; 蒋秀蓉; 薛寿征

    1994-01-01

    A case-control study was conductedin 36 hospitals of the urban and suburban areas of Shanghai about the relationships between birth defects and drug use and chemieal exposures during pregnancy in the period of July 1987-December 1990. The case group was composed of 1.609 subjects, and the control group 3,218 cases. On statistical analysis, it was found that a correlation existed between birth defects and the intake of APC and diazepam, and the exposure to pesticides, organic soh, ents, benzene, synthetic resin and physical factors (noises) on the part of the mother, and the exposure to harmful chemicals and physical factors and the smoking of 20 or more cigarettes a day on the part of the father. It is also found that the familial hereditary history of the parents and muhigravidio,, malnutrition, common colds, hepatitis and diarrhea during pregnancy may also be related to the birth defects.

  13. [Interconnection between assisted reproductive technologies, pregnancy complications and risk of birth defects].

    Science.gov (United States)

    Grabar', V V

    2014-02-01

    The aim of the article was to investigate the relationship between pregnancy complications, infertility and assisted reproductive technologies (ART). The study was conducted on 1331 couples with complicated reproductive history. It is found that miscarriage and other complications of pregnancy depend rather on the etiopathogenesis of infertility than on the technique of ART. The highest frequency of complications of pregnancy was diagnosed in women with endocrine disorders. In case of congenital malformations in the fetus the frequency of birth defects was 3.6% after in vitro fertilization (IVF) and 1.8% in case of spontaneous pregnancy. It was found an increased risk of birth defects in singleton boys conceived by IVF.

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

    Science.gov (United States)

    Nhoncanse, Geiza César; Germano, Carla Maria R.; de Avó, Lucimar Retto da S.; Melo, Débora Gusmão

    2014-01-01

    Objective: To assess the prevalence of congenital defects and to investigate their maternal and perinatal associated aspects by reviewing Birth Certificates. Methods: Among all born alive infants from January 2003 to December 2007 in Maternidade da Santa Casa de Misericórdia of São Carlos, Southeast Brazil (12,199 infants), cases were identified as the newborns whose Birth Certificates registered any congenital defect. The same sex neonate born immediately after the case was chosen as a control. In total, 13 variables were analyzed: six were maternal related, three represented labor and delivery conditions and four were linked to fetal status. The chi-square and Fisher's exact tests were used to compare the variables, being significant pApgar scores in the 1st and the 5th minute (p<0.001). Conclusions: The prevalence of congenital defect of 0.38% is possibly due to underreporting. The defects notified in the Birth Certificates were only the most visible ones, regardless of their severity. There is a need of adequate epidemiological monitoring of birth defects in order to create and expand prevention and treatment programs. PMID:24676186

  15. Maternal age and birth defects after the use of assisted reproductive technology in Japan, 2004–2010

    Directory of Open Access Journals (Sweden)

    Ooki S

    2013-02-01

    Full Text Available Syuichi OokiDepartment of Health Science, Ishikawa Prefectural Nursing University, Ishikawa, JapanBackground: Older mothers are becoming more common in Japan. One reason for this is the widespread use of assisted reproductive technology (ART. This study assesses the relationship between maternal age and the risk of birth defects after ART.Methods: Nationwide data on ART between 2004 and 2010 in Japan were analyzed. Diseases that were classified as code Q00-Q99 (ie, congenital malformations, deformations, and chromosomal abnormalities in the International Classification of Diseases, tenth edition, were selected. There were 219,185 pregnancies and 153,791 live births in total ART. Of these, 1943 abortions, stillbirths, or live births with birth defects were recorded. Percentage of multiple birth defects in total birth defects, the prevalence, crude relative risk and 95% confidence interval per 10,000 pregnancies and per 10,000 live births were analyzed according to the maternal age class (ie, 25–29, 30–34 (reference, 35–39, and 40+ years.Results: Multiple birth defects were observed among 14% of the 25–29 year old class, and 8% among other classes when chromosomal abnormalities were excluded. The prevalence of chromosomal abnormalities per pregnancy and per live birth became significantly and rapidly higher in mothers in the age classes of 30–35 and 40+ years. Nonchromosomal birth defects per pregnancy decreased linearly with advanced maternal age, while the number of nonchromosomal birth defects per live birth formed a gradual U-shaped distribution. The prevalence per pregnancy of congenital malformations of the nervous system was significantly lower with advanced maternal age. The relative risk per live birth was significant regarding congenital malformations of the circulatory system for a maternal age of 40+ years. Some other significant associations between maternal age and birth defects were observed.Conclusion: Maternal age is

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

    Science.gov (United States)

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

    2013-06-01

    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

  17. Methodological approaches to evaluate teratogenic risk using birth defect registries: advantages and disadvantages.

    Science.gov (United States)

    Poletta, Fernando A; López Camelo, Jorge S; Gili, Juan A; Leoncini, Emmanuele; Castilla, Eduardo E; Mastroiacovo, Pierpaolo

    2012-01-01

    Different approaches have been used in case-control studies to estimate maternal exposure to medications and the risk of birth defects. However, the performance of these approaches and how they affect the odds ratio (OR) estimates have not been evaluated using birth-defect surveillance programmes. The aim of this study was to evaluate the scope and limitations of three case-control approaches to assess the teratogenic risk of birth defects in mothers exposed to antiepileptic medications, insulin, or acetaminophen. We studied 110,814 non-malformed newborns and 58,514 live newborns with birth defects registered by the Latin American Collaborative Study of Congenital Anomalies (ECLAMC) between 1967 and 2008. Four controls were randomly selected for each case in the same hospital and period, and three different control groups were used: non-malformed newborns (HEALTHY), malformed newborns (SICK), and a subgroup of SICK, only-exposed cases (OECA). Associations were evaluated using OR and Pearson's chi-square (Pcontrols. SICK and OECA odds ratios cannot be considered a direct estimate of the true population OR except under certain conditions. However, the SICK and OECA designs could provide practical information to generate hypotheses about potential teratogens.

  18. Preventing birth defects: The value of the NBDPS case-control approach.

    Science.gov (United States)

    Dolk, Helen

    2015-08-01

    Birth Defect Registries provide a basis for epidemiological research into risk factors, thus facilitating a growing understanding of what causes congenital anomalies and how one might target preventive public health actions and reduce inequalities. The National Birth Defects Prevention Study (NBDPS) has used 10 U.S. registries as a basis for a large case-control study. This commentary reviews its methodology and selected areas of output. The strengths of NBDPS lie in the quality of diagnostic coding and classification of birth defects and its size. The sources of bias in NBDPS data relate particularly to retrospective exposure ascertainment entailing a long period of recall, incomplete ascertainment of terminations of pregnancy for fetal anomaly, and unknown bias in case selection. NBDPS results have shown the protective effect of healthy dietary patterns, but have not been as informative as expected in relation to furthering understanding of the protective effect of folic acid. NBDPS medication studies are making important contributions to addressing the gap in existing evidence systematically across a wide range of birth defects, but are challenged by the quality of information on exposure, dose and underlying disease condition, and the interpretation of results of multiple testing. Studies of environmental contaminants in collaboration with experts in exposure assessment have linked addresses to residential exposure measures, using the advantages of information on residential history and confounders, but are challenged by the need to consider exposure mixtures. NBDPS could increase its public health impact by placing more emphasis on socioeconomic inequalities. © 2015 Wiley Periodicals, Inc.

  19. Pharmacogenetics of drug-induced birth defects : the role of polymorphisms of placental transporter proteins

    NARCIS (Netherlands)

    Daud, Aizati N. A.; Bergman, Jorieke E. H.; Bakker, Marian K.; Wang, Hao; de Walle, Hermien E. K.; Plosch, Torsten; Wilffert, Bob

    2014-01-01

    One of the ongoing issues in perinatal medicine is the risk of birth defects associated with maternal drug use. The teratogenic effect of a drug depends, apart from other factors, on the exposition of the fetus to the drug. Transporter proteins are known to be involved in the pharmacokinetics of dru

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

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

  2. Dental Caries and Enamel Defects in Very Low Birth Weight Adolescents

    Science.gov (United States)

    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 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

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

    Science.gov (United States)

    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...

  4. H1N1 'Swine Flu' Vaccine Unlikely to Raise Birth Defect Risk

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_161034.html H1N1 'Swine Flu' Vaccine Unlikely to Raise Birth Defect ... Swedish researchers report that the vaccine against the H1N1 "swine flu" strain of influenza doesn't seem ...

  5. A study of handling cytotoxic drugs and risk of birth defects in offspring of female veterinarians.

    Science.gov (United States)

    Shirangi, Adeleh; Bower, Carol; Holman, C D'Arcy J; Preen, David B; Bruce, Neville

    2014-06-12

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

  6. Intracytoplasmic morphologically selected sperm injection and congenital birth defects: a retrospective cohort study.

    Science.gov (United States)

    Hershko-Klement, A; Sukenik-Halevy, R; Biron Shental, T; Miller, N; Berkovitz, A

    2016-09-01

    Our objective was to study the birth defect rates in intracytoplasmic morphologically selected sperm injection (IMSI) pregnancies. A cohort of couples presenting male factor infertility between January 2006 and January 2014 was retrospectively analyzed. Discharge letters and a telephone interview were performed for assessing pregnancy outcome. All clinical data were reviewed by a board certified medical geneticist. Main outcomes were fetal/birth defect and chromosomal abnormality rates. Two thousand two hundred and fifty-eight pregnancies were available for analysis, of them, 1669 (73.9%) resulting from ICSI and 2258 (26.1%) achieved by IMSI. Pregnancy outcome distribution did not show a significant difference. For the fresh embryo transfer cohort, fetal/birth defect rate was 4.5%, chromosomal aberration rate was 1.0%, and structural malformation rate was 3.5%. IMSI vs. ICSI pregnancies were less likely to involve a fetal/birth defect: 3.5% vs. 4.8%, respectively, but did not reach a statistical significance OR 0.71 (95% CI 0.39-1.22). Split by multiplicity, this trend existed only for singleton pregnancies; 1.4% structural malformations rate vs. 3.8%, respectively, OR 0.35 (95% CI 0.11-0.9). The frozen cohort demonstrated a significantly lower birth defect rate (OR 0.25, 95% CI 0.09-0.58). We conclude that IMSI procedure does not involve an increased malformation rate and may offer a reduced anomaly incidence. Further studies are required. © 2016 American Society of Andrology and European Academy of Andrology.

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    significant contribution in babies born with genetic syndromes, isolated renal defects, and isolated other defects (P ... (related); unions beyond second cousins (distant relatives) were considered unrelated for this study. RESULTS: During the 3-year study (July 2010 through June 2013), there were 28,646 total births; of these, we included 1,179 babies with major birth defects, and 1,262 babies as their controls....... The consanguinity prevalence for all included women was 49.6%. The consanguinity among babies with major Birth Defects (BDs) was 54.5% and 45.2% for controls (P 

  8. Correlation Between Birth Defects and Dietary Nutrition Status in a High Incidence Area of China1

    Institute of Scientific and Technical Information of China (English)

    BAO-YUAN ZHANG; QING-SHAN ZHANG; JIN ZHAO; YU-FU QIN; XIU-FENG YANG; GONG CHEN; JU-FEN LIU; XIN-MING SONG; XIAO-YING ZHENG; TING ZHANG; LIANG-MING LIN; FANG WANG; RUO-LEI XIN; XUE GU; YU-NA HE; DONG-MEI YU; PEI-ZHEN LI

    2008-01-01

    Objective To investigate the association between birth defects and dietary nutrient intake in a high risk area of China.Methods A dietary survey was performed and serum folic acid was measured in women whose pregnancy was affected by neural tube defects(NTDs)or unaffected by any birth defects(BDs)in Zhongyang and Jiaokou Counties in Shanxi Province of China.Results The local average censureption of foods including dark green vegetables,fluits,fat and meat,and nutrient intake(e.g.energy,protein,retinol,riboflavin,vitamin E,and selenium)were lower than the national average level.In women of childbearing age,these regions,the intake of nutrients was much lower than the recommended nutrient intake(9%-77%)The case-centrel dietary nutrition smdv of women whose pregnancy was affected bv BDs(including MTDs and congenital heart defects)demonstrated that,in early pregnancy,adequate nutrition(I.e.eating meat,fresh vegetables,fruit more than once a week)was a protective factor,while eating germinated potatoes was a risk factor.The geometrical mean(p5-p95)of serum folic acid in women with NTD birth defects was 9.6 nmol/L(3.6,23.03),which was significantly lower than that in normal women(14.03 nmol/L). Conclusion Wemen of childbearing age in the two counties of Shanxi Province,Chim,have a marked insufficient intake of some nutrients,especially folic acid,zinc,vitamins A and B12.This nutrient deficiency may be an important risk factor for the high prevalence of birth defects in these regions.Therefore,adequate dietary nutrition in early pregnancy can prevent BDs.

  9. Folic Acid and Birth Defects: A Case Study (Iran

    Directory of Open Access Journals (Sweden)

    Saeid Dastgiri

    2015-07-01

    Full Text Available Background and Objectives : The aim of this study was to evaluate the impact of using folic acid during pregnancy for the reduction of neural tube defects (NTDs in the northwest region of Iran. Material and Methods : In this study, 243 pregnant women that were identified by medical diagnostic tests as having a fetus with some types of congenital anomalies were evaluated. They were referred to Legal Medicine Organization of East Azarbaijan province to get permission for therapeutic termination of pregnancy. Results : The prevalence of NTDs among pregnant women who were referred for therapeutic termination of pregnancy was 24.7%. Consumption of folic acid prevented NTDs by 79% (Odds Ratio = 0.21, CI 95%: 0.12–0.40 and 94% (Odds Ratio = 0.06, CI 95%: 0.03–0.15 compared to pregnancies complicated by other anomalies and normal pregnancies, respectively. Hydrops fetalis, hydrocephaly, Down syndrome and limb anomalies did not have any significant association with use folic acid. Conclusion : Along with the advice for the consumption of folic acid for pregnant women, they should be offered prenatal screening or diagnostic tests to identify fetal abnormalities for possible termination of pregnancy for maternal and child health promotion. ​

  10. Reduction of birth prevalence rates of neural tube defects after folic acid fortification in Chile.

    Science.gov (United States)

    López-Camelo, Jorge S; Orioli, Iêda M; da Graça Dutra, Maria; Nazer-Herrera, Julio; Rivera, Nelson; Ojeda, María Elena; Canessa, Aurora; Wettig, Elisabeth; Fontannaz, Ana María; Mellado, Cecília; Castilla, Eduardo E

    2005-06-01

    To verify whether the decreasing neural tube defects birth prevalence rates in Chile are due to folic acid fortification or to pre-existing decreasing trends, we performed a population survey using a network of Estudio Colaborativo Latino Americano de Malformaciones Congenitas (ECLAMC, Latin American Collaborative Study of Congenital Malformations) maternity hospitals in Chile, between the years 1982 and 2002. Within each maternity hospital, birth prevalence rates of spina bifida and anencephaly were calculated from two pre-fortification periods (1982-1989 and 1990-2000), and from one fortified period (2001-2002). There was no historical trend for spina bifida birth prevalence rates before folic acid fortification, and there was a 51% (minimum 27%, maximum 66%) decrease in the birth prevalence rates of this anomaly in the fortified period. The relative risks of spina bifida were homogeneous among hospitals in the two period comparisons. There was no historical trend for the birth prevalence of anencephaly comparing the two pre-fortified periods, but the relative risks were heterogeneous among hospitals in this comparison. There was a 42% (minimum 10%, maximum 63%) decrease in the birth prevalence rate of anencephaly in the fortified period as compared with the immediately pre-fortified period, with homogeneous relative risks among hospitals. Within the methodological constraints of this study we conclude that the birth prevalence rates for both spina bifida and anencephaly decreased as a result of folic acid fortification, without interference of decreasing secular trends.

  11. Epidemiology of external birth defects in neonates in South western Nigeria

    Directory of Open Access Journals (Sweden)

    Bakare T.I.B

    2009-01-01

    Full Text Available Background: There is paucity of information on the prevalence of birth defects in Nigeria, particularly in our setting. This study determined the epidemiology of external congenital anomalies in Southwest Nigerian children. Patients and Methods: This was a stratified, randomized study of neonates presenting with external birth defects in Ife-Ijesha in Southwestern Nigeria, from August 2003 to July 2004. The neonates were screened for obvious congenital malformations by thorough physical examination. Results: A total of 624 neonates were screened, 43 (6.9% of whom had external birth defects (prevalence: 3.7 ± 0.8% SD. There was a slight male preponderance (M: F= 1.4: 0.9. The overall prevalence rates of external congenital and major anomalies in Ife-Ijesa are 6.9 and 3.7% respectively. A higher prevalence for major malformations, 6.3%, was also found within the minority ethnic groups in these communities compared to the native majority. Musculoskeletal abnormalities are the most common anomaly, followed by those of abnormal external genitalia and head defects. Conclusion: Major malformations are more common amongst the minority settlers in this study, and musculoskeletal abnormalities were the most prevalent.

  12. The Brazilian Zika virus strain causes birth defects in experimental models.

    Science.gov (United States)

    Cugola, Fernanda R; Fernandes, Isabella R; Russo, Fabiele B; Freitas, Beatriz C; Dias, João L M; Guimarães, Katia P; Benazzato, Cecília; Almeida, Nathalia; Pignatari, Graciela C; Romero, Sarah; Polonio, Carolina M; Cunha, Isabela; Freitas, Carla L; Brandão, Wesley N; Rossato, Cristiano; Andrade, David G; Faria, Daniele de P; Garcez, Alexandre T; Buchpigel, Carlos A; Braconi, Carla T; Mendes, Erica; Sall, Amadou A; Zanotto, Paolo M de A; Peron, Jean Pierre S; Muotri, Alysson R; Beltrão-Braga, Patricia C B

    2016-05-11

    Zika virus (ZIKV) is an arbovirus belonging to the genus Flavivirus (family Flaviviridae) and was first described in 1947 in Uganda following blood analyses of sentinel Rhesus monkeys. Until the twentieth century, the African and Asian lineages of the virus did not cause meaningful infections in humans. However, in 2007, vectored by Aedes aegypti mosquitoes, ZIKV caused the first noteworthy epidemic on the Yap Island in Micronesia. Patients experienced fever, skin rash, arthralgia and conjunctivitis. From 2013 to 2015, the Asian lineage of the virus caused further massive outbreaks in New Caledonia and French Polynesia. In 2013, ZIKV reached Brazil, later spreading to other countries in South and Central America. In Brazil, the virus has been linked to congenital malformations, including microcephaly and other severe neurological diseases, such as Guillain-Barré syndrome. Despite clinical evidence, direct experimental proof showing that the Brazilian ZIKV (ZIKV(BR)) strain causes birth defects remains absent. Here we demonstrate that ZIKV(BR) infects fetuses, causing intrauterine growth restriction, including signs of microcephaly, in mice. Moreover, the virus infects human cortical progenitor cells, leading to an increase in cell death. We also report that the infection of human brain organoids results in a reduction of proliferative zones and disrupted cortical layers. These results indicate that ZIKV(BR) crosses the placenta and causes microcephaly by targeting cortical progenitor cells, inducing cell death by apoptosis and autophagy, and impairing neurodevelopment. Our data reinforce the growing body of evidence linking the ZIKV(BR) outbreak to the alarming number of cases of congenital brain malformations. Our model can be used to determine the efficiency of therapeutic approaches to counteracting the harmful impact of ZIKV(BR) in human neurodevelopment.

  13. Disease Human - MDC_LowBirthWeight

    Data.gov (United States)

    NSGIC GIS Inventory (aka Ramona) — Polygon feature class based on Zip Code boundaries showing the percentage of babies born in Miami-Dade County in 2006 with low birth weights. Low birth weight is...

  14. Disease Human - MDC_LowBirthWeight

    Data.gov (United States)

    NSGIC Local Govt | GIS Inventory — Polygon feature class based on Zip Code boundaries showing the percentage of babies born in Miami-Dade County in 2006 with low birth weights. Low birth weight is...

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

    Science.gov (United States)

    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

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

    Energy Technology Data Exchange (ETDEWEB)

    Dunbar, J.B.

    1995-10-01

    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-date 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.

  17. The impact of thalidomide use in birth defects in Brazil.

    Science.gov (United States)

    Sales Luiz Vianna, Fernanda; Kowalski, Thayne Woycinck; Fraga, Lucas Rosa; Sanseverino, Maria Teresa Vieira; Schuler-Faccini, Lavinia

    2017-01-01

    Although the thalidomide tragedy occurred more than 50 years ago, the medication is still being used worldwide for different reasons, and several aspects regarding its teratogenicity remain unsolved. Despite the strict regulation implemented, new cases of thalidomide embryopathy (TE) are still being registered in Brazil. Furthermore, the molecular processes that lead to malformations when the embryo is exposed to thalidomide have not yet been fully identified. In this article, we perform a critical analysis of thalidomide's history in Brazil, highlighting aspects of the occurrence of TE over the decades. Finally, we present the main perspectives and challenges for ongoing surveillance and prevention of TE in Brazil. The effective control of dispensing thalidomide, especially in areas where leprosy is endemic, is one of the most important and challenging points. Furthermore, the emergence of thalidomide analogues is fast approaching, and their availability would pose additional concerns. The understanding of the molecular mechanisms and targets of thalidomide in both experimental and human models is essential for generating new insights into teratogenic mechanisms, so that safer thalidomide analogues can be developed.

  18. Pharmacogenetics of drug-induced birth defects: the role of polymorphisms of placental transporter proteins.

    Science.gov (United States)

    Daud, Aizati N A; Bergman, Jorieke E H; Bakker, Marian K; Wang, Hao; de Walle, Hermien E K; Plösch, Torsten; Wilffert, Bob

    2014-05-01

    One of the ongoing issues in perinatal medicine is the risk of birth defects associated with maternal drug use. The teratogenic effect of a drug depends, apart from other factors, on the exposition of the fetus to the drug. Transporter proteins are known to be involved in the pharmacokinetics of drugs and have an effect on drug level and fetal drug exposure. This condition may subsequently alter the risk of teratogenicity, which occurs in a dose-dependent manner. This review focuses on the clinically important polymorphisms of transporter proteins and their effects on the mRNA and protein expression in placental tissue. We also propose a novel approach on how the different genotypes of the polymorphism can be translated into phenotypes to facilitate genetic association studies. The last section looks into the recent studies exploring the association between P-glycoprotein polymorphisms and the risk of fetal birth defects associated with medication use during pregnancy.

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

    Institute of Scientific and Technical Information of China (English)

    Xu-huai HU

    2007-01-01

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

  20. Methodological approaches to evaluate teratogenic risk using birth defect registries: advantages and disadvantages.

    Directory of Open Access Journals (Sweden)

    Fernando A Poletta

    Full Text Available BACKGROUND: Different approaches have been used in case-control studies to estimate maternal exposure to medications and the risk of birth defects. However, the performance of these approaches and how they affect the odds ratio (OR estimates have not been evaluated using birth-defect surveillance programmes. The aim of this study was to evaluate the scope and limitations of three case-control approaches to assess the teratogenic risk of birth defects in mothers exposed to antiepileptic medications, insulin, or acetaminophen. METHODOLOGY/PRINCIPAL FINDINGS: We studied 110,814 non-malformed newborns and 58,514 live newborns with birth defects registered by the Latin American Collaborative Study of Congenital Anomalies (ECLAMC between 1967 and 2008. Four controls were randomly selected for each case in the same hospital and period, and three different control groups were used: non-malformed newborns (HEALTHY, malformed newborns (SICK, and a subgroup of SICK, only-exposed cases (OECA. Associations were evaluated using OR and Pearson's chi-square (P<0.01. There were no concordance correlations between the HEALTHY and OECA designs, and the average OR differences ranged from 3.0 to 11.5 for the three evaluated medicines. The overestimations observed for HEALTHY design were increased as higher OR values were given, with a high and statistically significant correlation between the difference and the mean. On the contrary, the concordance correlations obtained between the SICK and OECA designs were quite good, with no significant differences in the average risks. CONCLUSIONS: The HEALTHY design estimates the true population OR, but shows a high rate of false-positive results presumably caused by differential misclassification bias. This bias decreases with the increase of the proportion of exposed controls. SICK and OECA odds ratios cannot be considered a direct estimate of the true population OR except under certain conditions. However, the SICK and OECA

  1. Methodological Approaches to Evaluate Teratogenic Risk Using Birth Defect Registries: Advantages and Disadvantages

    Science.gov (United States)

    Poletta, Fernando A.; López Camelo, Jorge S.; Gili, Juan A.; Leoncini, Emmanuele; Castilla, Eduardo E.; Mastroiacovo, Pierpaolo

    2012-01-01

    Background Different approaches have been used in case-control studies to estimate maternal exposure to medications and the risk of birth defects. However, the performance of these approaches and how they affect the odds ratio (OR) estimates have not been evaluated using birth-defect surveillance programmes. The aim of this study was to evaluate the scope and limitations of three case-control approaches to assess the teratogenic risk of birth defects in mothers exposed to antiepileptic medications, insulin, or acetaminophen. Methodology/Principal Findings We studied 110,814 non-malformed newborns and 58,514 live newborns with birth defects registered by the Latin American Collaborative Study of Congenital Anomalies (ECLAMC) between 1967 and 2008. Four controls were randomly selected for each case in the same hospital and period, and three different control groups were used: non-malformed newborns (HEALTHY), malformed newborns (SICK), and a subgroup of SICK, only-exposed cases (OECA). Associations were evaluated using OR and Pearson's chi-square (P<0.01). There were no concordance correlations between the HEALTHY and OECA designs, and the average OR differences ranged from 3.0 to 11.5 for the three evaluated medicines. The overestimations observed for HEALTHY design were increased as higher OR values were given, with a high and statistically significant correlation between the difference and the mean. On the contrary, the concordance correlations obtained between the SICK and OECA designs were quite good, with no significant differences in the average risks. Conclusions The HEALTHY design estimates the true population OR, but shows a high rate of false-positive results presumably caused by differential misclassification bias. This bias decreases with the increase of the proportion of exposed controls. SICK and OECA odds ratios cannot be considered a direct estimate of the true population OR except under certain conditions. However, the SICK and OECA designs could

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

    Energy Technology Data Exchange (ETDEWEB)

    Dunbar, J.B.

    1994-05-01

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

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

    Directory of Open Access Journals (Sweden)

    Adeleh Shirangi

    2014-06-01

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

  4. Characteristics of rural birth defects and intervention strategies%农村出生缺陷特征及干预对策临床研究分析

    Institute of Scientific and Technical Information of China (English)

    黄蓉; 杨妹; 陈娟文; 吴秋婵; 林怡

    2015-01-01

    level is low. Our city rural population accounts for more than 80%, therefore, in the development of birth defects intervention measures should be focused on the impact of human resources and the quality of life of the people and the rural areas.

  5. Maternal smoking during pregnancy and birth defects in children: a systematic review with meta-analysis

    Directory of Open Access Journals (Sweden)

    Dilvania Nicoletti

    2014-12-01

    Full Text Available This systematic review aimed to investigate the association between maternal smoking during pregnancy and birth defects in children. We performed an electronic search of observational studies in the databases ovid MEDLINE (1950 to April 2010, LILACS and SciELO. We included 188 studies with a total of 13,564,914 participants (192,655 cases. Significant positive associations were found between maternal smoking and birth defects in the following body systems: cardiovascular (OR: 1.11; 95%CI: 1.03-1.19, digestive (OR: 1.18; 95%CI: 1.07-1.30, musculoskeletal (OR: 1.27; 95%CI: 1.16-1.39 and face and neck (OR: 1.28; 95%CI: 1.19-1.37. The strength of association between maternal smoking and birth defects measured by the OR (95%CI is significantly related to the amount of cigarettes smoked daily (χ2 = 12.1; df = 2; p = 0.002. In conclusion, maternal smoking during pregnancy is associated with congenital malformations in children and this association is dose-dependent.

  6. Effects and safety of periconceptional folate supplementation for preventing birth defects

    Science.gov (United States)

    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

  7. Birth order and human capital development: evidence from Ecuador

    NARCIS (Netherlands)

    de Haan, M.; Plug, E.; Rosero, J.

    2014-01-01

    In this paper we examine the effect of birth order on human capital development in Ecuador. Using family fixed effects models we find positive and persistent birth order effects; earlier-born children stay behind in their human capital development from infancy to adolescence. Turning to potential me

  8. Birth Defects

    Science.gov (United States)

    ... Z Topics Cerebral Palsy Congenital Adrenal Hyperplasia (CAH) Down Syndrome All related topics NICHD News and Spotlights No benefit in treating mildly low thyroid function in pregnancy, NIH Network study finds NIH workshop identifies complex health problems among ...

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

    Directory of Open Access Journals (Sweden)

    Raneem Al Shawwa

    2012-05-01

    Full Text Available 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.

  10. Association between maternal occupational exposure to organic solvents and congenital heart defects, National Birth Defects Prevention Study, 1997–2002

    Science.gov (United States)

    Gilboa, SM; Desrosiers, TA; Lawson, CC; Lupo, PJ; Riehle-Colarusso, T; Stewart, PA; van Wijngaarden, E; Waters, MA; Correa, A

    2015-01-01

    Objective To examine the relation between congenital heart defects (CHDs) in offspring and estimated maternal occupational exposure to chlorinated solvents, aromatic solvents, and Stoddard solvent during the period from one month before conception through the first trimester. Methods The study population included mothers of infants with simple, isolated CHDs and mothers of control infants who delivered from 1997 through 2002 and participated in the National Birth Defects Prevention Study. Two methods to assess occupational solvent exposure were employed: an expert consensus-based approach and a literature-based approach. Multiple logistic regression was used to calculate adjusted odds ratios (OR) and 95% confidence intervals (CI) for the association between solvent classes and CHDs. Results 2,951 control mothers and 2,047 CHD case mothers were included. Using the consensus-based approach, associations were observed for exposure to any solvent and any chlorinated solvent with perimembranous ventricular septal defects (OR 1.6; 95% CI 1.0 to 2.6 and OR 1.7; 95% CI 1.0 to 2.8 respectively). Using the literature-based approach, associations were observed for: any solvent exposure with aortic stenosis (OR 2.1; 95% CI 1.1 to 4.1); and Stoddard solvent exposure with d-transposition of the great arteries (OR 2.0; 95% CI 1.0 to 4.2), right ventricular outflow tract obstruction defects (OR 1.9; 95% CI 1.1 to 3.3), and pulmonary valve stenosis (OR 2.1; 95% CI 1.1 to 3.8). Conclusions We found evidence of associations between occupational exposure to solvents and several types of CHDs. These results should be interpreted in light of the potential for misclassification of exposure. PMID:22811060

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

    Science.gov (United States)

    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

  12. Case-crossover and case-time-control designs in birth defects epidemiology.

    Science.gov (United States)

    Hernández-Díaz, Sonia; Hernán, Miguel A; Meyer, Katie; Werler, Martha M; Mitchell, Allen A

    2003-08-15

    The case-crossover and the case-time-control designs can be used to evaluate the effect of intermittent exposures on the risk of acute events. To explore how birth defects epidemiology could benefit from these approaches, the authors compared them with a traditional case-control study design that evaluated the association between use of folic acid antagonists during the second and third pregnancy months and the risk of cardiovascular defects. Among 3,870 cases and 8,387 control infants in the Slone Epidemiology Center Birth Defects Study (1976-1998), the odds ratio was 2.3 (95% confidence interval (CI): 1.4, 3.9). The case-crossover approach compared folic acid antagonist use between the 2-month embryologically sensitive period (case window) and the 2 months preceding the last menstrual period (control window) among mothers of case infants (odds ratio = 1.0, 95% CI: 0.5, 2.0). Although it controls between-person confounding and avoids issues of control selection, this design may be biased by time trends of exposure prevalence during pregnancy. The case-time-control design, which adjusts for exposure time trends under certain assumptions, yielded an odds ratio of 2.9 (95% CI: 1.2, 7.2), but it requires controls. In the presence of gestational time trends of exposure, the new designs do not offer clear advantages over the case-control design.

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

    Science.gov (United States)

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

    2017-03-03

    Zika virus infection during pregnancy can cause serious brain abnormalities, but the full range of adverse outcomes is unknown (1). To better understand the impact of birth defects resulting from Zika virus infection, the CDC surveillance case definition established in 2016 for birth defects potentially related to Zika virus infection* (2) was retrospectively applied to population-based birth defects surveillance data collected during 2013-2014 in three areas before the introduction of Zika virus (the pre-Zika years) into the World Health Organization's Region of the Americas (Americas) (3). These data, from Massachusetts (2013), North Carolina (2013), and Atlanta, Georgia (2013-2014), included 747 infants and fetuses with one or more of the birth defects meeting the case definition (pre-Zika prevalence = 2.86 per 1,000 live births). Brain abnormalities or microcephaly were the most frequently recorded (1.50 per 1,000), followed by neural tube defects and other early brain malformations(†) (0.88), eye abnormalities without mention of a brain abnormality (0.31), and other consequences of central nervous system (CNS) dysfunction without mention of brain or eye abnormalities (0.17). During January 15-September 22, 2016, the U.S. Zika Pregnancy Registry (USZPR) reported 26 infants and fetuses with these same defects among 442 completed pregnancies (58.8 per 1,000) born to mothers with laboratory evidence of possible Zika virus infection during pregnancy (2). Although the ascertainment methods differed, this finding was approximately 20 times higher than the proportion of one or more of the same birth defects among pregnancies during the pre-Zika years. These data demonstrate the importance of population-based surveillance for interpreting data about birth defects potentially related to Zika virus infection.

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

    Directory of Open Access Journals (Sweden)

    Komal Preet Allagh

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

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

    Science.gov (United States)

    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.

  16. Use of CUSUM and Shewhart charts to monitor regional trends of birth defect reports in New York State.

    Science.gov (United States)

    Babcock, Gwen D; Talbot, Thomas O; Rogerson, Peter A; Forand, Steven P

    2005-10-01

    Cumulative sum (CUSUM) charts were originally developed for industrial quality control, but may be adapted for the surveillance of health outcome data, such as birth defects. The reported prevalence of birth defects can vary due to differences in case ascertainment, surveillance practices, or true changes in prevalence. We examined the utility of CUSUM and Shewhart charts for detect-ing changes in prevalence of two different birth defect groups. We chose obstructive renal defects because we expected an increase in reporting due to improved diagnosis. We chose oral clefts for comparison because we expected reporting to be unaffected by changes in diagnostic technologies. Data from the New York State Congenital Malformations Registry from 1992-1999 were analyzed using self-starting binomial CUSUM and Shewhart charts for four regions of New York State. CUSUM charts show that reports of obstructive urinary defects have increased from 1992-1999 in all regions of New York State. Reports of oral clefts increased only on Long Island. The CUSUM method proved useful for identifying changes in birth defect reporting and was able to detect the expected increases in obstructive renal defects. The apparent increase is likely due to improvements in diagnostic imaging techniques. In contrast, we only detected an increase in oral clefts on Long Island, which may be related to under report-ing of cases in the earlier years. CUSUM charts are useful in detecting small, sustained increases in prevalences over time while Shewhart charts are easier to interpret and can detect large sharp increases.

  17. Prevalence and pattern of birth defects in a tertiary health facility in the Niger Delta area of Nigeria

    Science.gov (United States)

    Abbey, Mkpe; Oloyede, Olufemi A; Bassey, Goddy; Kejeh, Benjamin M; Otaigbe, Barbara E; Opara, Peace I; Eneh, Austa U; Akani, Chris I

    2017-01-01

    Objective To ascertain the prevalence and pattern of congenital abnormalities that are peculiar to the Niger Delta area of Nigeria. Methods This is a descriptive retrospective cross-sectional study. It involved data from the labor ward and neonatal birth registers of the University of Port Harcourt Teaching Hospital on the total number of births and the babies that were delivered with major birth defects between August 2011 and December 2014. We also conducted a statistical comparison of the prevalence of congenital abnormalities in the Niger Delta with that in other regions of Nigeria and the developed world of Europe. Results Out of the 7,670 deliveries that occurred, 159 maternities had babies with major birth defects giving a prevalence of 20.73 cases per 1,000 live births. This figure is far more than that which was obtained in other regions of Nigeria −4.15:cases per 1,000 live births in the South East (P51:1,000 in the North East (P<0.001). Eighty-five (53.46%) of the defects occurred in 1,681 unbooked patients, while 74 (46.54%) happened in 5,989 booked maternities (P<0.001). The predominant abnormalities were those of the central nervous system at 27.0%, gastrointestinal system 11.95%, cardiovascular system 10.69%, anterior abdominal wall 8.18%, skeleton 6.29%, and chromosomal abnormalities at 5.66%. Conclusion The prevalence of major birth defects at the University of Port Harcourt Teaching Hospital was 20.73 cases per 1,000 live births and it was more in the unbooked than the booked maternities. All body systems were affected with those of the central nervous system predominating at 27.0% of the total diagnosed defects.

  18. Assessment of student pharmacists' knowledge concerning folic acid and prevention of birth defects demonstrates a need for further education.

    Science.gov (United States)

    Lynch, Sean M

    2002-03-01

    Adequate periconceptional consumption of folic acid can prevent neural tube birth defects, and all women capable of becoming pregnant are recommended to consume 400 microg/d. Most women, however, are unaware of this recommendation and do not consume adequate amounts of folic acid. It is important, therefore, that healthcare professionals, such as pharmacists, be capable of educating women regarding folic acid. The aim of this study was to assess knowledge regarding prevention of birth defects by folic acid among student (future) pharmacists in the final year of a professional degree program. Over a 3-y period (1998-2000), students (n = 98) enrolled in a PharmD program completed a survey consisting of five multiple-choice questions concerning folic acid and birth defects. Almost all students (93.9%) correctly identified folic acid as preventing birth defects. Of these students, many also knew that supplementation should begin before pregnancy (73.9%). Fewer, however, were able to correctly identify either the recommended level of intake (55.4%) or good sources of folic acid (57.6-65.2%). These results show that although student (future) pharmacists are aware of folic acid's ability to prevent birth defects, many lack the specific knowledge needed to effectively counsel women in future clinical practice.

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

    Science.gov (United States)

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

    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

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

    Science.gov (United States)

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

    2014-12-01

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

  1. The Heart-Placenta Axis in the First Month of Pregnancy: Induction and Prevention of Cardiovascular Birth Defects

    Directory of Open Access Journals (Sweden)

    Kersti K. Linask

    2013-01-01

    Full Text Available Extrapolating from animal studies to human pregnancy, our studies showed that folate (FA deficiency as well as one-time exposure to environmental factors in the first two to three weeks of human gestation can result in severe congenital heart defects (CHDs. Considering that approximately 49% of pregnancies are unplanned, this period of pregnancy can be considered high-risk for cardiac, as well as for neural, birth defects, as the woman usually is not aware of her pregnancy and may not yet be taking precautionary actions to protect the developing embryo. Using avian and mouse vertebrate models, we demonstrated that FA supplementation prevents CHD induced by alcohol, lithium, or elevation of the metabolite homocysteine, a marker for FA deficiency. All three factors affected the important Wnt signaling pathway by suppressing Wnt-mediated gene expression in the heart fields, resulting in a delay of cardiomyocyte migration, cardiomyogenesis, and CHD. Optimal protection of cardiogenesis was observed to occur with FA supplementation provided upon morning after conception and at higher doses than the presently available in prenatal vitamin supplementation. Our studies demonstrate pathways and cell processes that are involved with protection of one-carbon metabolism during heart development.

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

    Data.gov (United States)

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

  3. Diabetes and obesity-related genes and the risk of neural tube defects in the national birth defects prevention study.

    Science.gov (United States)

    Lupo, Philip J; Canfield, Mark A; Chapa, Claudia; Lu, Wei; Agopian, A J; Mitchell, Laura E; Shaw, Gary M; Waller, D Kim; Olshan, Andrew F; Finnell, Richard H; Zhu, Huiping

    2012-12-15

    Few studies have evaluated genetic susceptibility related to diabetes and obesity as a risk factor for neural tube defects (NTDs). The authors investigated 23 single nucleotide polymorphisms among 9 genes (ADRB3, ENPP1, FTO, LEP, PPARG, PPARGC1A, SLC2A2, TCF7L2, and UCP2) associated with type 2 diabetes or obesity. Samples were obtained from 737 NTD case-parent triads included in the National Birth Defects Prevention Study during 1999-2007. Log-linear models were used to evaluate maternal and offspring genetic effects. After application of the false discovery rate, there were 5 significant maternal genetic effects. The less common alleles at the 4 FTO single nucleotide polymorphisms showed a reduction of NTD risk (for rs1421085, relative risk (RR) = 0.73 (95% confidence interval (CI): 0.62, 0.87); for rs8050136, RR = 0.79 (95% CI: 0.67, 0.93); for rs9939609, RR = 0.79 (95% CI: 0.67, 0.94); and for rs17187449, RR = 0.80 (95% CI: 0.68, 0.95)). Additionally, maternal LEP rs2071045 (RR = 1.31, 95% CI: 1.08, 1.60) and offspring UCP2 rs660339 (RR = 1.32, 95% CI: 1.06, 1.64) were associated with NTD risk. Furthermore, the maternal genotype for TCF7L2 rs3814573 suggested an increased NTD risk among obese women. These findings indicate that maternal genetic variants associated with glucose homeostasis may modify the risk of having an NTD-affected pregnancy.

  4. A GCH1 haplotype and risk of neural tube defects in the National Birth Defects Prevention Study.

    Science.gov (United States)

    Lupo, Philip J; Chapa, Claudia; Nousome, Darryl; Duhon, Cody; Canfield, Mark A; Shaw, Gary M; Finnell, Richard H; Zhu, Huiping

    2012-11-01

    Tetrahydrobiopterin (BH(4)) is an essential cofactor and an important cellular antioxidant. BH(4) deficiency has been associated with diseases whose etiologies stem from excessive oxidative stress. GTP cyclohydrolase I (GCH1) catalyzes the first and rate-limiting step of de novo BH(4) synthesis. A 3-SNP haplotype in GCH1 (rs8007267, rs3783641, and rs10483639) is known to modulate GCH1 gene expression levels and has been suggested as a major determinant of plasma BH(4) bioavailability. As plasma BH(4) bioavailability has been suggested as a mechanism of neural tube defect (NTD) teratogenesis, we evaluated the association between this GCH1 haplotype and the risk of NTDs. Samples were obtained from 760 NTD case-parent triads included in the National Birth Defects Prevention Study (NBDPS). The three SNPs were genotyped using TaqMan® SNP assays. An extension of the log-linear model was used to assess the association between NTDs and both offspring and maternal haplotypes. Offspring carrying two copies of haplotype C-T-C had a significantly increased NTD risk (risk ratio [RR]=3.40, 95% confidence interval [CI]: 1.02-11.50), after adjusting for the effect of the maternal haplotype. Additionally, mothers carrying two copies of haplotype C-T-C had a significantly increased risk of having an NTD-affected offspring (RR=3.46, 95% CI: 1.05-11.00), after adjusting for the effect of the offspring haplotype. These results suggest offspring and maternal variation in the GCH1 gene and altered BH(4) biosynthesis may contribute to NTD risk.

  5. Diabetes and Obesity-Related Genes and the Risk of Neural Tube Defects in the National Birth Defects Prevention Study

    Science.gov (United States)

    Lupo, Philip J.; Canfield, Mark A.; Chapa, Claudia; Lu, Wei; Agopian, A. J.; Mitchell, Laura E.; Shaw, Gary M.; Waller, D. Kim; Olshan, Andrew F.; Finnell, Richard H.; Zhu, Huiping

    2012-01-01

    Few studies have evaluated genetic susceptibility related to diabetes and obesity as a risk factor for neural tube defects (NTDs). The authors investigated 23 single nucleotide polymorphisms among 9 genes (ADRB3, ENPP1, FTO, LEP, PPARG, PPARGC1A, SLC2A2, TCF7L2, and UCP2) associated with type 2 diabetes or obesity. Samples were obtained from 737 NTD case-parent triads included in the National Birth Defects Prevention Study during 1999–2007. Log-linear models were used to evaluate maternal and offspring genetic effects. After application of the false discovery rate, there were 5 significant maternal genetic effects. The less common alleles at the 4 FTO single nucleotide polymorphisms showed a reduction of NTD risk (for rs1421085, relative risk (RR) = 0.73 (95% confidence interval (CI): 0.62, 0.87); for rs8050136, RR = 0.79 (95% CI: 0.67, 0.93); for rs9939609, RR = 0.79 (95% CI: 0.67, 0.94); and for rs17187449, RR = 0.80 (95% CI: 0.68, 0.95)). Additionally, maternal LEP rs2071045 (RR = 1.31, 95% CI: 1.08, 1.60) and offspring UCP2 rs660339 (RR = 1.32, 95% CI: 1.06, 1.64) were associated with NTD risk. Furthermore, the maternal genotype for TCF7L2 rs3814573 suggested an increased NTD risk among obese women. These findings indicate that maternal genetic variants associated with glucose homeostasis may modify the risk of having an NTD-affected pregnancy. PMID:23132673

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

    Science.gov (United States)

    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 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

  7. The effects of periconceptional risk factor exposure and micronutrient supplementation on birth defects in Shaanxi Province in Western China.

    Directory of Open Access Journals (Sweden)

    Wenfang Yang

    Full Text Available OBJECTIVES: 1 To understand the current prevalence and main types of birth defects, 2 assess the periconceptional exposure of factors associated with birth defects in Shaanxi Province, and 3 provide scientific evidence for local governments to formulate services for the primary prevention of birth defects. METHODS: We sampled 16,541 households from 128 townships in 16 counties/districts in Shaanxi province using a multi-stage random sampling method. Among them, 10,544 women who had live born or stillborn infants with gestational age ≥ 28 weeks between 2008 and 2009 were interviewed using a structured questionnaire designed to collect information about periconceptional risk factor exposure, health care service utilization, and micronutrient supplements. Logistic regression was performed to assess the risk factors associated with birth defects and adjustments were made for imbalanced social-demographic characteristics between case and control groups. RESULTS: The prevalence of congenital birth defect in Shaanxi province was 14.3/1000 births. The environment risk factors associated with birth defects include unhealthy lifestyle (Alcohol, odds ratio (OR: 3.60, 95% confidence interval (CI 1.64-7.91; Smoking, OR: 1.32, 95% CI: 0.99-1.75; Drink strong tea, OR: 1.81, 95% CI: 1.27-2.59, exposure to heavy pollution (OR: 1.53, 95% CI: 1.01-2.30, maternal diseases (OR: 1.77, 95% CI: 1.35-2.33, drug use (OR: 2.11, 95% CI: 1.51-2.95, maternal chemical pesticide exposure (OR: 2.30, 95% CI: 1.16-4.57, and adverse pregnancy history (OR: 10.10, 95% CI: 7.55-13.53. Periconceptional folic acid or multiple micronutrients including folic acid supplementation, was associated with a reduced rate of birth defects (OR: 0.54, 95% CI: 0.29-0.998. CONCLUSIONS: Health care service utilization, unhealthy lifestyle factors, and environment risk factors seem to be associated with birth defects in Shaanxi province. Governmental agencies should focus on effective primary

  8. Periconceptional Risk Factors for Birth Defects among Younger and Older Teen Mothers.

    Science.gov (United States)

    Case, Amy P; Hoyt, Adrienne T; Canfield, Mark A; Wilkinson, Anna V

    2015-08-01

    We sought to determine whether selected periconceptional health behaviors that influence risk for birth defects differ between older and younger adolescents and whether pregnancy intention predicts more positive preconception health behaviors among teens. We analyzed interview responses from 954 adolescent control group participants from the National Birth Defects Prevention Study who delivered live infants during 1997-2007. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were calculated for factors of interest by age categories (13-15, 16-17, and 18 years, relative to 19 years). To construct a composite periconceptional behavior index, we summed the following healthy behaviors: nonsmoker, nondrinker, folic acid supplementation, and eating 5 or more servings of fruits and vegetables per day. Analyses indicated that women in the youngest group (13-15 years of age) were more likely to be Hispanic (aOR 2.83, 95% CI 1.40-5.70) and less likely to engage in some unhealthy pregnancy-related behaviors compared with 19-year-olds, such as smoking (aOR 0.45, 95% CI 0.20-0.99) and being overweight or obese (aOR 0.32, 95% CI 0.16-0.61). However, they were also less likely to have taken periconceptional folic acid (aOR 0.44, 95% CI 0.21-0.90). About one-third of teen mothers indicated that their pregnancies had been intended. Among 18- and 19-year-olds, this predicted a higher mean value for the composite periconceptional behavior index (2.30 versus 1.94, P ≤ .01). Teen mothers are not a homogeneous group. Each age subgroup presents varied demographic and behavioral factors that put them at varying levels of risk for birth defects. Furthermore, caregivers should not assume that teens do not plan pregnancies or that they need not be informed of the importance of periconceptional health. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

  9. Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis

    Science.gov (United States)

    Lu, Xin-Yan; Phung, Mai T.; Shaw, Chad A.; Pham, Kim; Neil, Sarah E.; Patel, Ankita; Sahoo, Trilochan; Bacino, Carlos A.; Stankiewicz, Pawel; Lee Kang, Sung-Hae; Lalani, Seema; Chinault, A. Craig; Lupski, James R.; Cheung, Sau W.; Beaudet, Arthur L.

    2009-01-01

    OBJECTIVES Our aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array-based comparative genomic hybridization, also known as chromosomal microarray analysis. METHODS Between March 2006 and September 2007, 638 neonates with various birth defects were referred for chromosomal microarray analysis. Three consecutive chromosomal microarray analysis versions were used: bacterial artificial chromosome-based versions V5 and V6 and bacterial artificial chromosome emulated oligonucleotide-based version V6 Oligo. Each version had targeted but increasingly extensive genomic coverage and interrogated >150 disease loci with enhanced coverage in genomic rearrangement-prone pericentromeric and subtelomeric regions. RESULTS Overall, 109 (17.1%) patients were identified with clinically significant abnormalities with detection rates of 13.7%, 16.6%, and 19.9% on V5, V6, and V6 Oligo, respectively. The majority of these abnormalities would not be defined by using karyotype analysis. The clinically significant detection rates by use of chromosomal microarray analysis for various clinical indications were 66.7% for “possible chromosomal abnormality” ± “others” (other clinical indications), 33.3% for ambiguous genitalia ± others, 27.1% for dysmorphic features + multiple congenital anomalies ± others, 24.6% for dysmorphic features ± others, 21.8% for congenital heart disease ± others, 17.9% for multiple congenital anomalies ± others, and 9.5% for the patients referred for others that were different from the groups defined. In all, 16 (2.5%) patients had chromosomal aneuploidies, and 81 (12.7%) patients had segmental aneusomies including common microdeletion or microduplication syndromes and other genomic disorders. Chromosomal mosaicism was found in 12 (1.9%) neonates. CONCLUSIONS Chromosomal microarray analysis is a valuable clinical diagnostic tool that allows precise and rapid identification of genomic imbalances

  10. Chemicals which cause birth defects--teratogens: a special concern of research chemists

    Energy Technology Data Exchange (ETDEWEB)

    Meyers, V.K.

    1983-12-15

    Women who are research chemists suffer an unusually high risk of being exposed to teratogenic chemicals (chemicals which cause birth defects) for the principal reason that they spend a good share of their lives in the laboratory in contact with wide variety of chemicals including new chemicals which may be unsuspected teratogens. Women research chemists therefore need to be able (a) to recognize known teratogens and (b) to predict teratogenicity of a compound that has not been tested. This article discusses these two points with an emphasis on the following topics: how to obtain information on teratogenicity of chemicals; how to interpret teratogenicity data from the literature; and how to make an educated guess about the teratogenicity of chemical compounds.

  11. Making birth defects 'preventable': pre-conceptional vitamin supplements and the politics of risk reduction.

    Science.gov (United States)

    Al-Gailani, Salim

    2014-09-01

    Since the mid-1990s, governments and health organizations around the world have adopted policies designed to increase women's intake of the B-vitamin 'folic acid' before and during the first weeks of pregnancy. Building on initial clinical research in the United Kingdom, folic acid supplementation has been shown to lower the incidence of neural tube defects (NTDs). Recent debate has focused principally on the need for mandatory fortification of grain products with this vitamin. This article takes a longer view, tracing the transformation of folic acid from a routine prenatal supplement to reduce the risk of anaemia to a routine 'pre-conceptional' supplement to 'prevent' birth defects. Understood in the 1950s in relation to social problems of poverty and malnutrition, NTDs were by the end of the century more likely to be attributed to individual failings. This transition was closely associated with a second. Folic acid supplements were initially prescribed to 'high-risk' women who had previously borne a child with a NTD. By the mid-1990s, they were recommended for all women of childbearing age. The acceptance of folic acid as a 'risk-reducing drug' both relied upon and helped to advance the development of preventive and clinical practices concerned with women's health before pregnancy. Copyright © 2013 The Author. Published by Elsevier Ltd.. All rights reserved.

  12. Development of web-based geocoding applications for the population-based Birth Defects Surveillance System in New York state.

    Science.gov (United States)

    Wang, Ying; Le, Linh H; Wang, Xiaohang; Tao, Zhen; Druschel, Charlotte D; Cross, Philip K; Hwang, Syni-An

    2010-01-01

    Geographic information systems (GIS) have been widely used in mapping health data and analyzing the geographic distribution of disease. Mapping and spatially analyzing data normally begins with geocoding, a process of assigning geographic coordinates to an address so that it can be displayed and analyzed on a map. The objectives of this project were to develop Web-based geocoding applications for the New York State birth defects surveillance system to geocode, both automatically and interactively, the birth defect cases of the Congenital Malformations Registry (CMR) and evaluate the geocoding results. Geocoding software, in conjunction with a Java-based development tool (J Server), was used to develop the Web-based applications on the New York State Department of Health's Health Commerce System. The Web-based geocoding applications have been developed and implemented for the New York State birth defects surveillance system. These menu-driven applications empower users to conduct geocoding activities using only a PC and a Web browser without the installation of any GIS software. These powerful tools provide automatic, real-time, street-level geocoding of the routinely collected birth defects records in the CMR. Up to 92% of the CMR records have been geocoded with addresses exactly matched to the reference addresses on house number, street name, and city or zip code.

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

    Science.gov (United States)

    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 ...

  14. Preventing Fetal Alcohol Syndrome and Other Alcohol-Related Birth Defects: Teacher's Manual and Student Text. High School Edition.

    Science.gov (United States)

    Howard, Elizabeth; And Others

    This teacher's manual presents lesson plans for a high-school instructional unit on Fetal Alcohol Syndrome and its less severe manifestations, Alcohol-Related Birth Defects. The lessons cover alcohol's effects during pregnancy, the history of concern about alcohol's effects, consequences of alcohol use in pregnancy, lifestyle risk reduction, and…

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

    Directory of Open Access Journals (Sweden)

    Tyler Joanne

    2003-10-01

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

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

    Science.gov (United States)

    2012-08-18

    anomalies (740.xx–759.xx) as well as fetal alcohol syndrome (760.71). As per Metropolitan Atlanta Congenital Defects Program guidelines when applied to ICD...Reefhuis J, Honein MA. 2004. Maternal age and non- chromosomal birth defects, Atlanta–1968–2000: teenager or thirty-something, who is at risk? Birth

  17. An experimental study of human birth models

    Science.gov (United States)

    Baumer, Alexa; Gossmann, Roseanna; Fauci, Lisa J.; Leftwich, Megan C.

    2016-11-01

    The laboring uterus is a complex and dynamic fluid system. Relatively little is known about the fluid properties in this system. However, the two primary fluids of interest, amniotic fluid and vernix caseosa, likely play integral roles in the force transferred to the fetus during the final stages of parturition. This investigation probes the role of fluid in the force transfer during delivery by considering physical models that determine the role of various components of the full system. The first experimental model represents the fetus passing through the birth canal as concentric cylinders with a fluid filled gap. The rigid, inner cylinder moves through the highly flexible outer cylinder at a prescribed velocity. The geometry of the inner cylinder is varied by aspect ratio and length. A total of five different inner geometries are used to fully investigate the parameter space. As the inner cylinder moves through the outer cylinder, strain measurements are taken. These measurements are converted to force measurements as a function of time and position in the outer cylinder. The results of these experiments are compared with numerical results to form a more complete picture of force transfer. This model can be used as the foundation for predicting the force needed to deliver a fetus in the final stages of parturition. Additionally, more complex models, that incorporate uterine contraction forces, are being developed.

  18. Combined effect of prenatal solvent exposure and GSTT1 or GSTM1 polymorphisms in the risk of birth defects.

    Science.gov (United States)

    Garlantézec, Ronan; Chevrier, Cécile; Coiffec, Isabelle; Celebi, Catherine; Cordier, Sylvaine

    2012-06-01

    Exposure to solvents during pregnancy has long been suspected to increase the risk of congenital malformations. Glutathione S-transferases (GSTs) are enzymes essential for the detoxification of various chemicals. Our objective here was to assess whether GST polymorphisms might modify the association between maternal solvent exposure and the risk of birth defects. A prospective cohort included 3421 pregnant women in Brittany, France (2002-2006). Occupational exposure to solvents was assessed from a job-exposure matrix. Congenital malformations were diagnosed among livebirths, stillbirths, and medical pregnancy terminations. Using a nested case-control design, 32 babies with major birth defects were compared to 348 normal births for babies' cord blood genotypes (at GSTT1 and GSTM1) and maternal occupational solvent exposure. Logistic models were used to adjust for potential confounders. The risk of major defects increased significantly in women with solvent exposure (20% of controls and 34% of cases). Frequencies of the null genotype of both the GSTT1 and GSTM1 genes were similar among controls and cases. There was a significantly increased risk of birth defects in GSTM1 not-null cord-blood genotype in pregnancies exposed to solvents (odds ratio [OR], 1.0 for not-null, not-exposed; OR, 4.0 for not-null, exposed; 95% confidence interval [CI], 1.4-11.2; OR, 1.6 for null, not-exposed; 95% CI, 0.6-3.9; OR, 1.0 for null, exposed; 95% CI, 0.2-4.7; p = 0.05). This nested case-control study suggests that the child's GSTM1 genotype modifies the risk of major birth defects among offspring of solvent-exposed women. Replication and additional investigations are necessary to confirm and elucidate these findings.

  19. Is preterm birth a human-specific syndrome?

    Science.gov (United States)

    Phillips, Julie Baker; Abbot, Patrick; Rokas, Antonis

    2015-06-14

    Human preterm birth (PTB), a multifactorial syndrome affecting offspring born before 37 completed weeks of gestation, is the leading cause of newborn death worldwide. Remarkably, the degree to which early parturition contributes to mortality in other placental mammals remains unclear. To gain insights on whether PTB is a human-specific syndrome, we examined within- and between-species variation in gestation length across placental mammals and the impact of early parturition on offspring fitness. Within species, gestation length is normally distributed, and all species appear to occasionally give birth before the 'optimal' time. Furthermore, human gestation length, like that of many mammalian species, scales proportionally to body mass, suggesting that this trait, like many others, is constrained by body size. Premature humans suffer from numerous cognitive impairments, but little is known of cognitive impairments in other placental mammals. Human gestation differs in the timing of the 'brain growth spurt', where unlike many mammals, including closely related primates, the trajectory of human brain growth directly overlaps with the parturition time window. Thus, although all mammals experience early parturition, the fitness costs imposed by the cognitive impairments may be unique to our species. Describing PTB broadly in mammals opens avenues for comparative studies on the physiological and genetic regulators of birth timing as well as the development of new mammalian models of the disease.

  20. Assessment of Turkish women's knowledge concerning folic acid and prevention of birth defects.

    Science.gov (United States)

    Unusan, Nurhan

    2004-10-01

    In Turkey, the incidence of neural tube defects (NTDs) is 30.1 per 10,000 births. For this reason it seems an important problem for women of childbearing age. Adequate periconceptional consumption of folic acid could prevent NTDs. Most women are unaware of this recommendation. The objectives of this study were to evaluate women' knowledge and beliefs with regard to folic acid, and to estimate the consumption frequency of vitamin supplements periconceptionally and during the first trimester of pregnancy. Eight hundred and eighteen married women who had delivered a live-born infant within the previous 12 months completed the questionnaire. Each subject participated in a 20-minute interview, with the questionnaire comprising multiple-choice statements. A random sample of 10 public health centres was drawn from 27 in three districts in Konya where about 50% of the population lives. Only 22% of subjects had heard or read about folic acid. Thirteen per cent of women indicated knowledge of the direct link between folic acid supplementation and NTD prevention. The knowledge was greatest among 26- to 35-year-olds. Women with a university degree were more likely to have heard about folic acid than were less-educated women. The results indicate that further government efforts are needed to inform the population and promote the optimal use of folic acid supplements and folate-enriched foods. It is the responsibility of national authorities to increase health education concerning folic acid and the prevention of NTDs in their countries.

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

    Science.gov (United States)

    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...

  2. Cyclopia: An Epidemiologic Study in a Large Dataset From the International Clearinghouse of Birth Defects Surveillance and Research

    Science.gov (United States)

    Orioli, Iêda M.; Amar, Emmanuelle; Bakker, Marian K.; Bermejo-Sánchez, Eva; Bianchi, Fabrizio; Canfield, Mark A.; Clementi, Maurizio; Correa, Adolfo; Csáky-Szunyogh, Melinda; Feldkamp, Marcia L.; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Mastroiacovo, Pierpaolo; Morgan, Margery; Mutchinick, Osvaldo M.; Rissmann, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Szabova, Elena; Castilla, Eduardo E.

    2015-01-01

    Cyclopia is characterized by the presence of a single eye, with varying degrees of doubling of the intrinsic ocular structures, located in the middle of the face. It is the severest facial expression of the holoprosencephaly (HPE) spectrum. This study describes the prevalence, associated malformations, and maternal characteristics among cases with cyclopia. Data originated in 20 Clearinghouse (ICBDSR) affiliated birth defect surveillance systems, reported according to a single pre-established protocol. A total of 257 infants with cyclopia were identified. Overall prevalence was 1 in 100,000 births (95%CI: 0.89–1.14), with only one program being out of range. Across sites, there was no correlation between cyclopia prevalence and number of births (r = 0.08; P=0.75) or proportion of elective termination of pregnancy (r= −0.01; P=0.97). The higher prevalence of cyclopia among older mothers (older than 34) was not statistically significant. The majority of cases were liveborn (122/200; 61%) and females predominated (male/total: 42%). A substantial proportion of cyclopias (31%) were caused by chromosomal anomalies, mainly trisomy 13. Another 31% of the cases of cyclopias were associated with defects not typically related to HPE, with more hydrocephalus, heterotaxia defects, neural tube defects, and preaxial reduction defects than the chromosomal group, suggesting the presence of ciliopathies or other unrecognized syndromes. Cyclopia is a very rare defect without much variability in prevalence by geographic location. The heterogeneous etiology with a high prevalence of chromosomal abnormalities, and female predominance in HPE, were confirmed, but no effect of increased maternal age or association with twinning was observed. PMID:22006661

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

    Science.gov (United States)

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

    2017-08-11

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

  4. Human sex ratio at birth in South West Nigeria

    Directory of Open Access Journals (Sweden)

    Azeez M

    2007-01-01

    Full Text Available Background: Human sex ratio at birth differs from one population to the other. This variation has been attributed to cultural practices, seasonal variation, small-family size policy and sex selective technology. Information on secondary sex ratio in Nigeria is limited. Aims and Objective: To analyzed human sex ratio at birth for samples of the Nigerian population in 4 urban settings in Southwest Nigeria, in order to know the trend and to compare the findings with those of previous reports. Materials and Methods: Data were collected from Obafemi Awolowo University (OAU teaching hospital at Ile Ife and Wesley Guild hospital at Ilesa, Osun state; General hospital at Ogbomoso, Oyo state and Ekiti state specialist hospital at Ado-Ekiti, Ekiti state. The data consisted of 35 209 live single births recorded between 1995 and 2004. Each set of data was analyzed to determine the sex ratio by year, month and quarterly values. Chi-square analysis was used to determine the deviation of the sex ratios for the years from the average value. Results: The annual average ratios of 104.7:100, 102.8:100, 98.9:100 and 100.8:100 were recorded for OAU teaching hospital, Wesley Guild Hospital, General Hospital and Ekiti State specialist hospital, respectively. When pooled together, the average ratio was 102.7:100. This shows some bias for male births. Data also indicates more male birth in the rainy season, suggesting a seasonal variation of sex ratio. Conclusion: These findings are representative of the populations in southwest Nigeria and are comparable to values obtained for other regions in Nigeria and other populations of African origin.

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

    Directory of Open Access Journals (Sweden)

    M.S. Mabaso

    1990-09-01

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

  6. Low birth weight and zygosity status is associated with defective muscle glycogen and glycogen synthase regulation in elderly twins

    DEFF Research Database (Denmark)

    Poulsen, Pernille; Wojtaszewski, Jørgen; Richter, Erik;

    2007-01-01

    AND METHODS: We measured the activities of glycogen synthase (GS), GS kinase (GSK)3 alpha, GS phosphorylation, and glycogen levels in muscle biopsies obtained from 184 young and elderly twins before and after a euglycemic-hyperinsulinemic clamp. RESULTS: Elderly monozygotic twins had significantly lower...... fractional GS activity amidst higher glycogen and GS protein levels compared with dizygotic twins. In addition, we demonstrated strong nongenetic associations between birth weight and defect muscle glycogen metabolism in elderly--but not in younger--twins. Thus, for every 100 g increase in birth weight...... within pairs, GS fractional activity, GS protein level, and glycogen content was increased by 4.2, 8.7, and 4.5%, respectively, in elderly twins. Similarly, for every 100 g increase in birth weight, GSK3 alpha activity and GS phosphorylation at the sites 2, 2+2a, and 3a+3b were decreased by 3.1, 9.0, 10...

  7. Severe birth defects in children perinatal exposed to HIV from a “real-world” setting: Infectious Diseases National Institute, Bucharest, Romania

    Directory of Open Access Journals (Sweden)

    Ana Maria Tudor

    2014-11-01

    Full Text Available Introduction: The shift in epidemic trends in recent years in Romania shows new problems in regard of HIV vertical transmission, firstly in intravenous drug user's mothers co-infected with hepatitis viruses and with social problems, and secondly the children of young mothers with an old HIV infection and long antiretroviral therapy history. Materials and Methods: We studied all HIV perinatal exposed children routinely followed up in the Paediatric Department of the National Institute of Infectious Diseases, since January 1st 2006 till December 31st 2012. The analyses consisted of describing the birth defects and association with certain risk factors: gender, mother's age at birth and exposure to antiretrovirals in the first trimester of pregnancy. Results: We analyzed 244 children born to HIV-infected mothers. The incidence of HIV infection was 16.39%. The rate of birth defects was 39.34% (96/244 cases. The most frequent findings were cardiac malformations (47/96, followed by musculoskeletal defects (24/96, neurologic defects (20/96, urogenital malformations (13/96, digestive tract defects (3/93, metabolic disorders (2/96 and genetic disorders (2/96. We found nine cases of severe congenital anomalies: complex heart defect, total congenital aganglionic megacolon, anal imperforation, Dandy-Walker syndrome, gangliosidosis, Niemann-Pick syndrome, Down syndrome, true hermaphroditism and cleft palate. Two children died during first year of life due to severe malformations. 9% of cases had associated malformations. The gender rate was in favour of males in group with birth defects (58/38 and with no birth defects (82/66. The median age at birth in mothers was 22 years, similar in both groups. The highest mean age at birth was in offspring's mothers with neurologic congenital defects 25, 15 years old, but is not statistically significant (p=0.1. In the studied period the highest number of birth defects were found in 2012, 37 children, compared with less

  8. [Living the birth process in a humanized assistance model].

    Science.gov (United States)

    da Silva, Larissa Mandarano; Barbieri, Márcia; Fustinoni, Suzete Maria

    2011-01-01

    That was a qualitative study with phenomenological approach that aimed at understanding women's post-partum experiences in a humanized assistance. Data were collected in a hospital from São Paulo, SP, Brazil. Eight women in post-partum period were interviewed. From data analysis two themes were extracted: Bearing the labor and Having the opportunity rescuing autonomy, being disclosed the phenomenon: "Living the ambiguity on the birth process in a humanized assistance model". The reports show feelings like pain, fear and anxiety, however, it allowed a participation and rescuing autonomy. Although the study have been realized in a humanized assistance, the women's experiences reveals that they are far from an effective humanization, according to its principles. This study can be used to guide educative actions target to humanization and to generate managerial changes.

  9. Cloacal Exstrophy : An Epidemiologic Study From the International Clearinghouse for Birth Defects Surveillance and Research

    NARCIS (Netherlands)

    Feldkamp, Marcia L.; Botto, Lorenzo D.; Amar, Emmanuelle; Bakker, Marian K.; Bermejo-Sanchez, Eva; Bianca, Sebastiano; Canfield, Mark A.; Castilla, Eduardo E.; Clementi, Maurizio; Csaky-Szunyogh, Melinda; Leoncini, Emanuele; Li, Zhu; Lowry, R. Brian; Mastroiacovo, Pierpaolo; Merlob, Paul; Morgan, Margery; Mutchinick, Osvaldo M.; Rissmann, Anke; Ritvanen, Annukka; Siffel, Csaba; Carey, John C.

    2011-01-01

    Cloacal exstrophy presents as a complex abdominal wall defect thought to result from a mesodermal abnormality. Anatomically, its main components are Omphalocele, bladder Exstrophy and Imperforate anus. Other associated malformations include renal malformations and Spine defects (OEIS complex). Histo

  10. Monitoring and analysis on birth defects in shanghai in 2009%2009年上海市出生缺陷监测分析

    Institute of Scientific and Technical Information of China (English)

    虞慧婷; 蔡任之; 杨青; 宋桂香

    2011-01-01

    Objective: To analyze the prevalence of birth defects and explore the related risk factors of birth defects in shanghai in 2009.Methods: The monitoring data of birth defects in hospitals of Shanghai in 2009 were collected, the intrauterine development of neonates with birth defects were understood, logistic regression analysis was used to analyze and explore the related risk factors of birth defects.Results: The incidence of birth defects in Shanghai in 2009 was 12.41‰, which was higher than those in former years; the incidence of congenital heart disease was the highest among various birth defects, the intrauterine development of neonates without birth defects was better than that of neonates with birth defects.Conclusion: In recent years, the incidence of birth defects increases, the phenomenon needs more attention, propaganda and education should be enhanced, and prenatal screening and prevention of birth defects should be strengthened too.%目的:分析上海市2009年新生儿出生缺陷的发生情况,探讨出生缺陷发生的相关危险因素.方法:收集2009年上海市接产医院出生监测数据,了解出生缺陷新生儿宫内发育情况,运用Logistic回归分析探索出生缺陷的相关危险因素.结果:上海市2009年出生缺陷的发生率为12.41‰,比历年有所升高,全市首位出生缺陷为先天性心脏病,无出牛缺陷新生儿宫内发育要优于有出生缺陷的新生儿.结论:近年来出生缺陷发生率的上升需要得到重视,应加强宣教,做好出生缺陷的产前筛查与预防.

  11. The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects

    Directory of Open Access Journals (Sweden)

    Fabio eCoppedè

    2015-06-01

    Full Text Available Almost 15 years ago it was hypothesized that polymorphisms of genes encoding enzymes involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions of chromosome 21, favoring its abnormal segregation during maternal meiosis. Subsequently, more than 50 small case-control studies investigated whether or not maternal polymorphisms of folate pathway genes could be risk factors for the birth of a child with Down syndrome (DS, yielding conflicting and inconclusive results. However, recent meta-analyses of those studies suggest that at least three of those polymorphisms, namely MTHFR 677C>T, MTRR 66A>G, and RFC1 80G>A, are likely to act as maternal risk factors for the birth of a child with trisomy 21, revealing also complex gene-nutrient interactions. A large-cohort study also revealed that lack of maternal folic acid supplementation at peri-conception resulted in increased risk for a DS birth due to errors occurred at maternal meiosis II in the aging oocyte, and it was shown that the methylation status of chromosome 21 peri-centromeric regions could favor recombination errors during meiosis leading to its malsegregation. In this regard, two recent case-control studies revealed association of maternal polymorphisms or haplotypes of the DNMT3B gene, coding for an enzyme required for the regulation of DNA methylation at centromeric and peri-centromeric regions of human chromosomes, with risk of having a birth with DS. Furthermore, congenital heart defects (CHD are found in almost a half of DS births, and increasing evidence points to a possible contribution of lack of folic acid supplementation at peri-conception, maternal polymorphisms of folate pathway genes, and resulting epigenetic modifications of several genes, at the basis of their occurrence. This review summarizes available case-control studies and literature meta-analyses in order to provide a critical and up to date overview of what we currently know in this

  12. The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects

    Science.gov (United States)

    Coppedè, Fabio

    2015-01-01

    Almost 15 years ago it was hypothesized that polymorphisms of genes encoding enzymes involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions of chromosome 21, favoring its abnormal segregation during maternal meiosis. Subsequently, more than 50 small case-control studies investigated whether or not maternal polymorphisms of folate pathway genes could be risk factors for the birth of a child with Down syndrome (DS), yielding conflicting and inconclusive results. However, recent meta-analyses of those studies suggest that at least three of those polymorphisms, namely MTHFR 677C>T, MTRR 66A>G, and RFC1 80G>A, are likely to act as maternal risk factors for the birth of a child with trisomy 21, revealing also complex gene-nutrient interactions. A large-cohort study also revealed that lack of maternal folic acid supplementation at peri-conception resulted in increased risk for a DS birth due to errors occurred at maternal meiosis II in the aging oocyte, and it was shown that the methylation status of chromosome 21 peri-centromeric regions could favor recombination errors during meiosis leading to its malsegregation. In this regard, two recent case-control studies revealed association of maternal polymorphisms or haplotypes of the DNMT3B gene, coding for an enzyme required for the regulation of DNA methylation at centromeric and peri-centromeric regions of human chromosomes, with risk of having a birth with DS. Furthermore, congenital heart defects (CHD) are found in almost a half of DS births, and increasing evidence points to a possible contribution of lack of folic acid supplementation at peri-conception, maternal polymorphisms of folate pathway genes, and resulting epigenetic modifications of several genes, at the basis of their occurrence. This review summarizes available case-control studies and literature meta-analyses in order to provide a critical and up to date overview of what we currently know in this field. PMID:26161087

  13. Warning Signs After Birth

    Science.gov (United States)

    ... defects, premature birth and infant mortality. Solving premature birth Featured articles Accomplishments and lessons learned since the ... and pregnancy Folic acid Medicine safety and pregnancy Birth defects prevention Learn how to help reduce your ...

  14. Diverse ability of maternal immune stimulation to reduce birth defects in mice exposed to teratogens: a review.

    Science.gov (United States)

    Hrubec, T C; Prater, M R; Mallela, M K; Gogal, R M; Guo, T L; Holladay, S D

    2012-06-01

    Stimulating the maternal immune system before or during pregnancy can dramatically improve morphologic outcome in mice that have been exposed to teratogens. For example, maternal immune stimulation in mice reduced craniofacial and palate defects, heart defects, digit and limb defects, tail malformations and neural tube defects caused by diverse teratogens that included chemical agents, hyperthermia, X-rays and diabetes mellitus. Several different procedures of immune stimulation were effective and included footpad injection with Freund's Complete Adjuvant, intraperitoneal (IP) injection with inert particles or attenuated Bacillus Calmette-Guerin, intrauterine injection with allogenic or xenogenic lymphocytes, or intravascular, intrauterine or IP injection with immunomodulatory cytokines. Limited information is available regarding mechanisms by which such immune stimulation reduces fetal dysmorphogenesis; however, cytokines of maternal origin have been suggested as effector molecules that act on the placenta or fetus to improve development. These collective data raise novel questions about the possibility of unrecognized maternal immune system regulatory activity in normal fetal development. This manuscript reviews the literature showing maternal immune protection against morphologic birth defects. Potential operating mechanisms are discussed, and the possibility is considered that a suppressed maternal immune system may negatively impact fetal development.

  15. 北京61272例新生儿出生缺陷监测结果分析%Analysis of the birth defects among 61 272 live born infants in Beijing

    Institute of Scientific and Technical Information of China (English)

    李瑛; 刘晓红; 王粉燕; 赵心亮; 张羲; 张运平

    2009-01-01

    Objective: To investigate the birth defect condition in Haidian district of Beijing city, 61 272 live-born infants who were delivered in Haidian Maternal and Child Health Hospital from 2003 to the March of 2009 are analyzed. Methods: Data was collected from the hospital' s medical records and from the birth defect surveillance. Results: Among the newborns studied, 1 076 were found having birth defect (17.56‰). The most common birth defects are congenital heart defect, followed by dysmorphosis of external ear, polydactyly, hypospadia, cleft lip and palate. In addition, three birth defects that are not included in the birth defect surveillance list were enorchia, renal agenesis and giant hemangioma. The birth defect rates of preterm and small for gestational age infants are significantly higher than it of the term infants. The birth defect patterns for these two types of abnormal infants are distinct. Conclusion: We have determined the pattern of birth defects in Beijing, which may help in policy-making regarding the prevention and intervention of birth defects.

  16. Zika Babies May Look Normal At Birth, Display Brain Defects Later: CDC

    Science.gov (United States)

    ... page: https://medlineplus.gov/news/fullstory_162159.html Zika Babies May Look Normal at Birth, Display Brain ... 22, 2016 (HealthDay News) -- Babies exposed to the Zika virus in the womb can look normal at ...

  17. Decalcificated human dentin matrix in autogenous repair of skull defects

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    @@In the management of traumatic skull defect, the classical treatment has usually been adopted, i.e.,primary debridement and secondary repair of bone defect, especially in cases of open lacerated skull fracture. 1 In general, the use of prosthetic material in repair is often not so satisfactory either in China or abroad. Decalcificated human dentin matrix (DHDM)has been used in autogenous repair of traumatic skull defect in primary operation and a good curative effect has been gained since the time from September 1996 to March 1998. Clinical results and CT scanning observation are reported in the following.

  18. The origin of congenital heart defects and the epigenetic programming of the healthy child

    NARCIS (Netherlands)

    S.A. Obermann-Borst (Sylvia)

    2013-01-01

    textabstractBirth defects are a global burden affecting 7% of births worldwide. Congenital heart defects (CHD) are the most common congenital malformation with approximately 1 million children born each year. It is not only the most frequent group of birth defects in human, but also the leading caus

  19. Development and implementation of the first national data quality standards for population-based birth defects surveillance programs in the United States.

    Science.gov (United States)

    Anderka, Marlene; Mai, Cara T; Romitti, Paul A; Copeland, Glenn; Isenburg, Jennifer; Feldkamp, Marcia L; Krikov, Sergey; Rickard, Russel; Olney, Richard S; Canfield, Mark A; Stanton, Carol; Mosley, Bridget; Kirby, Russell S

    2015-09-19

    Population-based birth defects surveillance is a core public health activity in the United States (U.S.); however, the lack of national data quality standards has limited the use of birth defects surveillance data across state programs. Development of national standards will facilitate data aggregation and utilization across birth defects surveillance programs in the U.S. Based on national standards for other U.S. public health surveillance programs, existing National Birth Defects Prevention Network (NBDPN) guidelines for conducting birth defects surveillance, and information from birth defects surveillance programs regarding their current data quality practices, we developed 11 data quality measures that focused on data completeness (n = 5 measures), timeliness (n = 2), and accuracy (n = 4). For each measure, we established tri-level performance criteria (1 = rudimentary, 2 = essential, 3 = optimal). In January 2014, we sent birth defects surveillance programs in each state, District of Columbia, Puerto Rico, Centers for Disease Control and Prevention (CDC), and the U.S. Department of Defense Birth and Infant Health Registry an invitation to complete a self-administered NBDPN Standards Data Quality Assessment Tool. The completed forms were electronically submitted to the CDC for analyses. Of 47 eligible population-based surveillance programs, 45 submitted a completed assessment tool. Two of the 45 programs did not meet minimum inclusion criteria and were excluded; thus, the final analysis included information from 43 programs. Average scores for four of the five completeness performance measures were above level 2. Conversely, the average scores for both timeliness measures and three of the four accuracy measures were below level 2. Surveillance programs using an active case-finding approach scored higher than programs using passive case-finding approaches for the completeness and accuracy measures, whereas their average scores were lower

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

    Science.gov (United States)

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

    2013-10-01

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

  1. Comparison of live-birth defects after luteal-phase ovarian stimulation vs. conventional ovarian stimulation for in vitro fertilization and vitrified embryo transfer cycles.

    Science.gov (United States)

    Chen, Hong; Wang, Yun; Lyu, Qifeng; Ai, Ai; Fu, Yonglun; Tian, Hui; Cai, Renfei; Hong, Qingqing; Chen, Qiuju; Shoham, Zeev; Kuang, Yanping

    2015-05-01

    To assess live-birth defects after a luteal-phase ovarian-stimulation regimen (LPS) for in vitro fertilization (IVF) and vitrified embryo transfer (ET) cycles. Retrospective cohort study. Tertiary-care academic medical center. Infants who were born between January 1, 2013 and May 1, 2014 from IVF with intracytoplasmic sperm injection (ICSI) treatments (n = 2,060) after either LPS (n = 587), the standard gonadotropin-releasing hormone-agonist (GnRH-a) short protocol (n = 1,257), or mild ovarian stimulation (n = 216). The three ovarian-stimulation protocols described and assisted reproductive technology (ART) treatment (IVF or ICSI, and vitrified ET) in ordinary practice. The main measures were: gestational age, birth weight and length, multiple delivery, early neonatal mortality, and birth defects. Associations were assessed using logistic regression by adjusting for confounding factors. The final sample included 2,060 live-born infants, corresponding to 1,622 frozen-thawed (FET) cycles, which led to: 587 live-born infants from LPS (458 FET cycles); 1,257 live-born infants from the short protocol (984 FET cycles); and 216 live-born infants from mild ovarian stimulation (180 FET cycles). Birth characteristics regarding gestational age, birth weight and length, multiple delivery, and early neonatal death were comparable in all groups. The incidence of live-birth defects among the LPS group (1.02%) and the short GnRH-a protocol group (0.64%) was slightly higher than in the mild ovarian-stimulation group (0.46%). However, none of these differences reached statistical significance. For congenital malformations, the risk significantly increased for the infertility-duration factor and multiple births; the adjusted odds ratios were 1.161 (95% confidence interval [CI]: 1.009-1.335) and 3.899 (95% CI: 1.179-12.896), respectively. No associations were found between congenital birth defects and various ovarian-stimulation regimens, maternal age, body mass index, parity

  2. The Nexus of Prematurity, Birth Defects, and Intrauterine Growth Restriction: A Role for Plac1-Regulated Pathways

    Science.gov (United States)

    Fant, Michael E.; Fuentes, Juan; Kong, Xiaoyuan; Jackman, Suzanne

    2013-01-01

    Epidemiological studies have demonstrated an increased prevalence of birth defects and intrauterine growth restriction (IUGR) among infants born prematurely suggesting they share common biological determinants. The identification of key regulatory pathways contributing to this nexus is essential to ongoing efforts to develop effective intervention strategies. Plac1 is a paternally imprinted and X-linked gene that conforms to this paradigm. Examination of a mutant mouse model has confirmed that Plac1 is essential for normal placental development and function. Moreover, it is expressed throughout the developing embryo indicating that it also has broad relevance to embryogenesis. Most notably, its absence in the developing embryo is associated with abnormal brain development and an increased risk of lethal, postnatal hydrocephalus identifying it as a novel, X-linked determinant of brain development. The essential and non-redundant roles of Plac1 in placental and neurological development represent a novel regulatory paradigm for embryonic growth and pregnancy maintenance. Regulatory pathways influenced, in part, by Plac1 are likely to contribute to the observed nexus of IUGR, prematurity, and birth defects. PMID:24600606

  3. Roles of bovine Waddlia chondrophila and Chlamydia trachomatis in human preterm birth

    Directory of Open Access Journals (Sweden)

    D. Baud

    2015-01-01

    Full Text Available Waddlia chondrophila and Chlamydia trachomatis are intracellular bacteria associated with human miscarriage. We investigated their role in human preterm birth. Whereas presence of Chlamydia trachomatis DNA in genital tract was associated with human preterm birth, Waddlia was not, despite being present in women's genital tracts.

  4. Food availability at birth limited reproductive success in historical humans.

    Science.gov (United States)

    Rickard, Ian J; Holopainen, Jari; Helama, Samuli; Helle, Samuli; Russell, Andrew F; Lummaa, Virpi

    2010-12-01

    Environmental conditions in early life can profoundly affect individual development and have consequences for reproductive success. Limited food availability may be one of the reasons for this, but direct evidence linking variation in early-life nutrition to reproductive performance in adulthood in natural populations is sparse. We combined historical agricultural data with detailed demographic church records to investigate the effect of food availability around the time of birth on the reproductive success of 927 men and women born in 18th-century Finland. Our study population exhibits natural mortality and fertility rates typical of many preindustrial societies, and individuals experienced differing access to resources due to social stratification. We found that among both men and women born into landless families (i.e., with low access to resources), marital prospects, probability of reproduction, and offspring viability were all positively related to local crop yield during the birth year. Such effects were generally absent among those born into landowning families. Among landless individuals born when yields of the two main crops, rye and barley, were both below median, only 50% of adult males and 55% of adult females gained any reproductive success in their lifetime, whereas 97% and 95% of those born when both yields were above the median did so. Our results suggest that maternal investment in offspring in prenatal or early postnatal life may have profound implications for the evolutionary fitness of human offspring, particularly among those for which resources are more limiting. Our study adds support to the idea that early nutrition can limit reproductive success in natural animal populations, and provides the most direct evidence to date that this process applies to humans.

  5. Conjoined Twins: A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and Research

    Science.gov (United States)

    MUTCHINICK, OSVALDO M.; LUNA-MUÑOZ, LEONORA; AMAR, EMMANUELLE; BAKKER, MARIAN K.; CLEMENTI, MAURIZIO; COCCHI, GUIDO; DUTRA, MARIA DA GRAÇA; FELDKAMP, MARCIA L.; LANDAU, DANIELLE; LEONCINI, EMANUELE; LI, ZHU; LOWRY, BRIAN; MARENGO, LISA K.; MARTÍNEZ-FRÍAS, MARÍA-LUISA; MASTROIACOVO, PIERPAOLO; MÉTNEKI, JULIA; MORGAN, MARGERY; PIERINI, ANNA; RISSMAN, ANKE; RITVANEN, ANNUKKA; SCARANO, GIOACCHINO; SIFFEL, CSABA; SZABOVA, ELENA; ARTEAGA-VÁZQUEZ, JAZMÍN

    2015-01-01

    Conjoined twins (CT) are a very rare developmental accident of uncertain etiology. Prevalence has been previously estimated to be 1 in 50,000 to 1 in 100,000 births. The process by which monozygotic twins do not fully separate but form CT is not well understood. The purpose of the present study was to analyze diverse epidemiological aspects of CT, including the different variables listed in the Introduction Section of this issue of the Journal. The study was made possible using the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) structure. This multicenter worldwide research includes the largest sample of CT ever studied. A total of 383 carefully reviewed sets of CT obtained from 26,138,837 births reported by 21 Clearinghouse Surveillance Programs (SP) were included in the analysis. Total prevalence was 1.47 per 100,000 births (95% CI: 1.32–1.62). Salient findings including an evident variation in prevalence among SPs: a marked variation in the type of pregnancy outcome, a similarity in the proportion of CT types among programs: a significant female predominance in CT: particularly of the thoracopagus type and a significant male predominance in parapagus and parasitic types: significant differences in prevalence by ethnicity and an apparent increasing prevalence trend in South American countries. No genetic, environmental or demographic significant associated factors were identified. Further work in epidemiology and molecular research is necessary to understand the etiology and pathogenesis involved in the development of this fascinating phenomenon of nature. PMID:22002822

  6. Monitoring and analysis of perinatal birth defect%围产儿出生缺陷的监测与分析

    Institute of Scientific and Technical Information of China (English)

    梁海丽; 陈源鸿; 王丽平; 蔡娟; 温新创

    2012-01-01

    Objective Analysis of epidemiology and influencing factors of perinatal birth defects from 2002 to 2010. Method The defect rate of perinatal birth and influencing factors were analyzed based on the birth defect surveillance data and the birth information from Nanshan Hospital, Guangdong Medical College. Results The birth defect rate was 15.88‰ over the period of nine years,and it was significantly increased since 2007.The death rate of defect birth accounted for 24.88% of the total perinatal death. The top birth defects were congenital heart disease, multi-fingered and jointed fingered, total cleft lip and palate, fetal edema syndrome, and neural tube malformations, accounted for 52.55% of total birth defects. The birth defect was related to residence origin of the parents, gender and number of the neonates, season of the birth, as well as pregnant times, delivery times, age and education levels of the pregnant women. Conclusion The control of birth defect is critical.Further investigations on the etiology of birth defect are needed to provide effective prevention and control strategies.Extensive health education and guidance on marriage and pregnancy, prenatal and post natal cares,and physical examination on neonates are the effective ways to reduce the rate of birth defects and increase the quality of population.%目的 分析2002-2010年围产儿出生缺陷流行病学特征及影响因素.方法 以2002-2010年广东医学院附属南山医院分娩信息及出生缺陷的监测资料为基础,对缺陷率及影响因素进行分析.结果 9年间出生缺陷率为15.88%,2007年后缺陷率明显增高;缺陷儿死亡占围产儿死亡的24.88%;前五位出生缺陷依次为先天性心脏病、多指+并指、总唇腭裂、胎儿水肿综合征、神经管畸形,共占畸形总数的52.55%;出生缺陷发生与户籍、性别、季节、胎数及产妇年龄、文化程度、孕次、产次有关.结论 出生缺陷防控形势严峻,应深入

  7. Analysis of Selected Maternal Exposures and Non-Syndromic Atrioventricular Septal Defects in the National Birth Defects Prevention Study, 1997–2005

    Science.gov (United States)

    Patel, Sonali S.; Burns, Trudy L.; Botto, Lorenzo D.; Riehle-Colarusso, Tiffany J.; Lin, Angela E.; Shaw, Gary M.; Romitti, Paul A.

    2015-01-01

    Although the descriptive epidemiology of atrioventricular septal defects (AVSDs), a group of serious congenital heart defects (CHDs), has been recently reported, non-genetic risk factors have not been consistently identified. Using data (1997–2005) from the National Birth Defects Prevention Study, an ongoing multisite population-based case–control study, the association between selected non-genetic factors and non-syndromic AVSDs was examined. Data on periconceptional exposures to such factors were collected by telephone interview from 187 mothers of AVSD case infants and 6,703 mothers of unaffected infants. Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were estimated from logistic regression models. Mothers who reported cigarette smoking during the periconceptional period were more likely to have infants with AVSDs compared with non-smokers, independent of maternal age, periconceptional alcohol consumption, infant gestational age, family history of CHDs, and study site (aOR 1.5, 95% CI 1.1–2.4). The association was strongest in mothers who smoked more than 25 cigarettes/day. In addition, mothers with periconceptional passive smoke exposure were more likely to have infants with AVSDs than unexposed mothers, independent of maternal age, active periconceptional smoking, infant gestational age, and family history of CHDs (aOR 1.4, 95% CI 1.0–2.0). No associations were observed between AVSDs and maternal history of a urinary tract infection or pelvic inflammatory disease, maternal use of a wide variety of medications, maternal occupational exposure, parental drug use, or maternal alcohol consumption. If the results of this preliminary study can be replicated, minimizing maternal active and passive smoke exposure may decrease the incidence of AVSDs. PMID:22903798

  8. Birth Defects in Newborns: Spina Bifida Index at Rio Grande Do Norte State in Brazil

    Directory of Open Access Journals (Sweden)

    Arnaldo CM Junior

    2014-08-01

    Conclusion: Northeast region is the one that has the major incidence of SB in Brazil country, but RN state has a number lower than others states from its region. It was made an update about therapeutic options to minimize the morbidity and mortality in newborn with SB congenital defects. [J Interdiscipl Histopathol 2014; 2(4.000: 217-223

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

    Science.gov (United States)

    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…

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

    Science.gov (United States)

    Beyler, Roger E.; Meyers, Vera Kolb

    1982-01-01

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

  11. Advances in prenatal screening and prenatal diagnosis for birth defect%出生缺陷产前筛查及产前诊断研究进展

    Institute of Scientific and Technical Information of China (English)

    吴清明; 周瑾

    2011-01-01

    出生缺陷已成为世界婴儿死亡、儿童和成人残疾的主要原因之一,是目前全世界关注的一个重大公共卫生问题.出生缺陷由遗传因素、环境致畸因素或两者共同作用所致.我国是出生缺陷高发国家,通过早期诊断、早期干预可以避免至少70%出生缺陷.出生缺陷干预是一个系统工程,产前筛查和产前诊断是胎儿出生缺陷干预的有效手段,是出生缺陷干预二级预防中的重要组成部分.%Birth defects has been one of main causes of infant mortality, children and adult disability, and are becoming main public heath problem worldwide. Birth defects are associated with environmental factors, genetic factors or interactions of the genetic factors and environmental factors. It is high rates of birth defects in China, at least 70% of the birth defects can be avoided of early diagnosis is determined and early interventions are performed. Intervention of birth defects is a system process, prenatal screening and prenatal diagnosis are effective interventions, and they are the key components of the secondary prevention in birth defects control.

  12. Haploinsufficiency of TAB2 causes congenital heart defects in humans

    DEFF Research Database (Denmark)

    Thienpont, Bernard; Zhang, Litu; Postma, Alex V;

    2010-01-01

    Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. We identified a locus for CHDs on 6q24-q25. Genotype-phenotype correlations in 12 patients carrying a chromosomal deletion...... in cardiac development was further supported by its conserved expression in the developing human and zebrafish heart. Moreover, a critical, dosage-sensitive role during development was demonstrated by the cardiac defects observed upon titrated knockdown of tab2 expression in zebrafish embryos...

  13. Analysis on the the monitoring results of birth defect in Zhanjiang%湛江市出生缺陷监测结果分析

    Institute of Scientific and Technical Information of China (English)

    黎文清; 杨妹; 陈娟文; 叶婉华

    2011-01-01

    Objective: To explore the status and epidemiologic characteristics of birth defect in Zhanjiang, seek a more effective intervention countermeasure to reduce birth defect.Methods: According to the nation birth defect monitoring network and registration reporting requirement of monitoring plan in Zhanjiang, the monitoring data of birth defect eases in 2009 were analyzed retrospectively, then the resuits were analyzed by statistical method.Results: In 2009, 335 infants with birth defect were born in Zhanjiang, the incidence of birth defeet was 65.45/ten thousand, which was lower than that of the entire province, achieved the goal of child development plan in Guangdong province (90/ten thousand) But after cancelling compulsion pre -marital physical examination in 2003, the incidence of birth defect increased year by year, compared with the incidence of birth defect in 2003, the incidence of birth defect in 2006 increased by nearly 1/2 (P <0.01 ), after "two summaries" intermediate stage appraisal in 2006, the incidence of birth defect decreased.Conclusion: Although the incidence of birth defect in Zhanjiang is lower than the average levels in the nation and the entire province, but the prevention and control work is still stern.The government and the entire society should move together and complete the third - level prevention earnestly, which may be the basic measures to reduce the occurrence of birth defect.%目的:探讨湛江市出生缺陷现状和流行病学特征,寻找降低出生缺陷更有效的干预对策.方法:根据全国出生缺陷监测网及湛江市监测方案的登记报告要求,对2009年出生缺陷监测资料进行回顾性分析,结果采用统计学方法进行显著性检验.结果:2009年湛江市出生缺陷儿335例,出生缺陷发生率为65.45/万,较全省出生缺陷发生率低,达到广东省儿童发展规划的目标(90/万).但2003年湛江市取消强制婚检后,出生缺陷发生率逐年上升,2006

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

    Directory of Open Access Journals (Sweden)

    Matthieu Raveau

    2012-05-01

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

  15. Human births and the phase of the moon.

    Science.gov (United States)

    Abell, G O; Greenspan, B

    1979-01-11

    Published studies on the frequency of births as related to the lunar cycle are inconsistent with each other. The distribution of all births during 51 lunar cycles, from March 17, 1974, to April 30, 1978, was analyzed by the authors at the University of California, Los Angeles, Hospital. There were 11.691 live births, of which 8142 were natural, 141 multiple, and 168 stillbirths. In none of the 4 samples was the mean number of births occurring on the date of the full moon above average, showing that the birthrate during the period surveyed did not in any way correlate with the cycle of lunar phases.

  16. The "Telefono Rosso": a service for the prevention of birth defects and for the evaluation of teratogenic risk.

    Science.gov (United States)

    Mastroiacovo, P; Serafini, M; Pagano, M; De Santis, M; Vercillo, I; Celestini, E

    1993-01-01

    The "Telefono Rosso" ("Red telephone") is a specialized service for preconceptional counselling and teratogenic risk evaluation. In both cases the choice of telephone communication allows to reach a wide basin of users with personalized information. The service finds one of its main reasons in the marked disinformation which exists in this field and in the wrong risk perception shown by a high proportion of users. In addition to serving the community to prevent birth defects and to prevent some induced abortions, the "Telefono Rosso" represents a unique opportunity to add to the current body of knowledge by documenting the outcomes of pregnancies exposed to a variety of agents. In this respect the "Telefono Rosso" may be considered an additional source of post-marketing surveillance.

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

    Science.gov (United States)

    Pettigrew, Stacy M; Bell, Erin M; Van Zutphen, Alissa R; Rocheleau, Carissa M; Shaw, Gary M; Romitti, Paul A; Olshan, Andrew; Lupo, Philip J; Soim, Aida; Makelarski, Jennifer A; Michalski, Adrian M; Sanderson, Wayne

    2016-11-01

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

  18. 10年围产儿出生缺陷调查研究%Investigation and analysis of perinatal birth defects during 10 years

    Institute of Scientific and Technical Information of China (English)

    管淑彩; 李敏; 刘青

    2012-01-01

    目的 探讨出生缺陷的状况及其影响因素,为降低出生缺陷干预措施的制定提供依据.方法 回顾性监测分析我院2001年1月至2010年12月10年间分娩的围产儿出生缺陷状况.结果 10年监测17 365例围产儿,其中出生缺陷儿205例,平均出生缺陷发生率为11.81‰,总体出生缺陷的年度发生率间无显著性差异(χ2=4.303,P=0.890>0.05),但2006年至2010年与2001年至2005年相比,神经管畸形的构成比明显下降(17.09%vs29.55%,χ2=4.474,P=0.034 0.05 ). But compared with the period of 2001-2005, the constituent ratio of neural tube defect at the period of 2006-2010 decreased significantly ( 17.09% vs 29. 55% ,χ2 = 4. 474,P = 0.034 <0.05,OR =0. 492 ). The first 5 types of birth defect were neural tube defect, polysyndactyly, cheilopalatognathus, urinary tract defect and congenital cardiopathy in turn, and the incidence rates of them were 2. 66 , 2.49 , 1. 22 , 1. 10 and 0. 98 , respectively. The sum of incidence of the first three types occupied 52. 69% of overall birth defect rate. The age of puerperants (x = 14. 946,P =0.000 <0. 05,OR = 1.712 ) and the gender of perinatal infants (χ2 = 6.488 ,P = 0. 011 <0. 05, OR = 1.440 ) were closely related with birth defect. There were 52. 20% of birth defect diagnosed before birth, and B-ultrasound was the main method for diagnosing ( 57. 07% ). Conclusion The incidence rate of birth defect in the area needs to be cut down, especially the types of neural tube defects, polysyndactyly and cheilopalatognathus. Low-dose of folic acid has significant effect in preventing neural tube defects.

  19. Specific Association of Teratogen and Toxicant Metals in Hair of Newborns with Congenital Birth Defects or Developmentally Premature Birth in a Cohort of Couples with Documented Parental Exposure to Military Attacks: Observational Study at Al Shifa Hospital, Gaza, Palestine

    Directory of Open Access Journals (Sweden)

    Paola Manduca

    2014-05-01

    Full Text Available This study was undertaken in Gaza, Palestine, in a cohort of babies born in 2011. Hair samples of newborns were analyzed for metal load by DRC-ICP-MS. We report specific level of contamination by teratogen/toxicants metals of newborn babies, environmentally unexposed, according to their phenotypes at birth: normal full term babies, birth defects or developmentally premature. The occurrence of birth defects was previously shown to be correlated in this cohort to documented exposure of parents to weapons containing metal contaminants, during attacks in 2009. We detect, in significantly higher amounts than in normal babies, different specific teratogen or toxicant elements, known weapons’ components, characteristic for each of birth defect or premature babies. This is the first attempt to our knowledge to directly link a phenotype at birth with the in utero presence of specific teratogen and/or toxicant metals in a cohort with known episodes of acute exposure of parents to environmental contamination by these same metals, in this case delivered by weaponry The babies were conceived 20–25 months after the major known parental exposure; the specific link of newborn phenotypes to war-remnant metal contaminants, suggests that mothers’ contamination persists in time, and that the exposure may have a long term effect.

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

    Institute of Scientific and Technical Information of China (English)

    Marilyn M. LI

    2005-01-01

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

  1. Comparative primate obstetrics: Observations of 15 diurnal births in wild gelada monkeys (Theropithecus gelada) and their implications for understanding human and nonhuman primate birth evolution.

    Science.gov (United States)

    Nguyen, Nga; Lee, Laura M; Fashing, Peter J; Nurmi, Niina O; Stewart, Kathrine M; Turner, Taylor J; Barry, Tyler S; Callingham, Kadie R; Goodale, C Barret; Kellogg, Bryce S; Burke, Ryan J; Bechtold, Emily K; Claase, Megan J; Eriksen, G Anita; Jones, Sorrel C Z; Kerby, Jeffrey T; Kraus, Jacob B; Miller, Carrie M; Trew, Thomas H; Zhao, Yi; Beierschmitt, Evan C; Ramsay, Malcolm S; Reynolds, Jason D; Venkataraman, Vivek V

    2017-05-01

    The birth process has been studied extensively in many human societies, yet little is known about this essential life history event in other primates. Here, we provide the most detailed account of behaviors surrounding birth for any wild nonhuman primate to date. Over a recent ∼10-year period, we directly observed 15 diurnal births (13 live births and 2 stillbirths) among geladas (Theropithecus gelada) at Guassa, Ethiopia. During each birth, we recorded the occurrence (or absence) of 16 periparturitional events, chosen for their potential to provide comparative evolutionary insights into the factors that shaped birth behaviors in humans and other primates. We found that several events (e.g., adopting standing crouched positions, delivering infants headfirst) occurred during all births, while other events (e.g., aiding the infant from the birth canal, licking infants following delivery, placentophagy) occurred during, or immediately after, most births. Moreover, multiparas (n = 9) were more likely than primiparas (n = 6) to (a) give birth later in the day, (b) isolate themselves from nearby conspecifics while giving birth, (c) aid the infant from the birth canal, and (d) consume the placenta. Our results suggest that prior maternal experience may contribute to greater competence or efficiency during the birth process. Moreover, face presentations (in which infants are born with their neck extended and their face appearing first, facing the mother) appear to be the norm for geladas. Lastly, malpresentations (in which infants are born in the occiput anterior position more typical of human infants) may be associated with increased mortality in this species. We compare the birth process in geladas to those in other primates (including humans) and discuss several key implications of our study for advancing understanding of obstetrics and the mechanism of labor in humans and nonhuman primates. © 2017 Wiley Periodicals, Inc.

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

    Science.gov (United States)

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

    2013-03-21

    Dietary intake of nitrates, nitrites, and nitrosamines can increase the endogenous formation of N-nitroso compounds in the stomach. Results from animal studies suggest that these compounds might be teratogenic. We examined the relationship between maternal dietary intake of nitrates, nitrites (including plant and animal sources as separate groups), and nitrosamines and several types of birth defects in offspring. For this population-based case-control study, data from a 58-question food frequency questionnaire, adapted from the short Willett Food Frequency Questionnaire and administered as part of the National Birth Defects Prevention Study (NBDPS), were used to estimate daily intake of dietary nitrates, nitrites, and nitrosamines in a sample of 6544 mothers of infants with neural tube defects (NTD)s, oral clefts (OC)s, or limb deficiencies (LD)s and 6807 mothers of unaffected control infants. Total daily intake of these compounds was divided into quartiles based on the control mother distributions. Odds ratios (OR)s and 95% confidence intervals (CI)s were estimated using logistic regression; estimates were adjusted for maternal daily caloric intake, maternal race-ethnicity, education, dietary folate intake, high fat diet (>30% of calories from fat), and state of residence. While some unadjusted ORs for NTDS had 95% (CI)s that excluded the null value, none remained significant after adjustment for covariates, and the effect sizes were small (adjusted odds ratios [aOR]<1.12). Similar results were found for OCs and LDs with the exception of animal nitrites and cleft lip with/without cleft palate (aORs and CIs for quartile 4 compared to quartile 1 =1.24; CI=1.05-1.48), animal nitrites and cleft lip (4th quartile aOR=1.32; CI=1.01-1.72), and total nitrite and intercalary LD (4th quartile aOR=4.70; CI=1.23-17.93). Overall, odds of NTDs, OCs or LDs did not appear to be significantly associated with estimated dietary intake of nitrate, nitrite, and nitrosamines.

  3. Final results from the Betaseron (interferon β-1b) Pregnancy Registry: a prospective observational study of birth defects and pregnancy-related adverse events

    Science.gov (United States)

    Coyle, P K; Sinclair, S M; Scheuerle, A E; Thorp, J M; Albano, J D; Rametta, M J

    2014-01-01

    Objective Women with multiple sclerosis are often diagnosed and treated during their reproductive years. Limited data are available on the safety of treatment during pregnancy. The Betaseron Pregnancy Registry prospectively monitored women exposed to interferon β-1b (IFNβ-1b) during pregnancy to estimate the rates of birth defects, spontaneous abortions (SABs) and other negative outcomes in this population. Design From 2006 to 2011, this observational registry enrolled women exposed prior to conception or during pregnancy (but prior to or without abnormalities on prenatal screening). Follow-up continued from enrolment through the 4-month paediatric visit. Setting Patients in the USA who met these criteria were enrolled in the registry. Results The registry enrolled 99 pregnant women; 3 were lost to follow-up. The earliest exposure to IFNβ-1b occurred during the first trimester for 95 pregnancies and in the third trimester for 1 pregnancy. There were 99 birth outcomes (3 twins), including 86 (86.9%) live births, 11 (11.1%) SABs and 2 (2%) stillbirths. Birth defects were reported in five (5.1%) cases. Rates of birth defects and SAB were not significantly different from population comparators. No developmental concerns were identified at the 4-month paediatric visit. Conclusions The small sample size limits the ability to draw definitive conclusions; however, there was no pattern to suggest increased negative outcomes with IFNβ-1b. Clinical trials registration number NCT00317564. PMID:24821713

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

    Science.gov (United States)

    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...

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

    NARCIS (Netherlands)

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

    2011-01-01

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

  6. Surveillance of adverse fetal effects of medications (SAFE-Med) : Findings from the International Clearinghouse of Birth Defects Surveillance and Research

    NARCIS (Netherlands)

    Lisi, Alessandra; Botto, Lorenzo D.; Robert-Gnansia, Elisabeth; Castilla, Eduardo E.; Bakker, Marian K.; Bianca, Sebastiano; Cocchi, Guido; de Vigan, Caterine; Dutra, Maria da Graca; Horacek, Jiri; Merlob, Paul; Pierini, Anna; Scarano, Gioacchino; Sipek, Antonin; Yamanaka, Michiko; Mastroiacovo, Pierpaolo

    2010-01-01

    To evaluate whether the routinely collected data in birth defect registries could be used to assess association between medications and risk for congenital anomalies an "exposed case-only" design was performed. Twelve registries provided 18,131 cases exposed to a medication during the first trimeste

  7. Association between prenatal exposure to antiretroviral therapy and birth defects: an analysis of the French perinatal cohort study (ANRS CO1/CO11.

    Directory of Open Access Journals (Sweden)

    Jeanne Sibiude

    2014-04-01

    Full Text Available 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

  8. 梧州地区1529例出生缺陷儿监测分析%A monitoring analysis in 1529 birth-defect

    Institute of Scientific and Technical Information of China (English)

    施国栋; 陈永予

    2009-01-01

    Objective: To comprehend birth-defect condition and disposition in wuzhou city; to provid evidence and strategy that obviate and interfere birth-defect; Methods: we collect data of birth-defect of wuzhou city in 2001 ~2006 year. Result: we find 1529 birth-defect in six year. average birth-defect rate is 17.41‰; birth-defect: Schridde syndrome (3. 17‰) , cheilognathus and cleft palat (1.61‰), eqninovarus (1.51‰), hyperdactylia (1.46‰), limb shortening (1.31‰), ankylodactylia (1.21‰), congenital hydrocephalus (1.01‰), cbeilognathus (0.91‰), anencephaly (0. 55%0), hypospadia (0.40‰). Conclusions: birth-defect rate of wuzhou city is decrease year by year in 2001 ~ 2006 year; it is emphasis that health information, medical examination of before marriage,, antepartum Screen, antenatal diagnosis were pervasion.%目的 了解梧州市出生缺陷发生情况及分布特征,为出生缺陷的预防和干预提供依据和对策.方法 收集梧州市2001~2006年出生缺陷资料,对资料进行分析.结果 6年间共发现出生缺陷儿1529例,平均出生缺陷率为17.41‰,2006年前10位出生缺陷为:胎儿水肿综合征(3.17‰),唇裂合并腭裂(1.61‰),马蹄内翻足(1.51‰),多指(1.46‰),肢体短缩(1.31‰),并指(1.21‰),先天性脑积水(1.01‰),唇裂(0.91%O),无脑畸形(0.55‰),尿道下裂(0.40‰).结论 梧州市2001~2006年出生缺陷发生率呈逐年下降趋势,因此应继续加强卫生知识宣教和婚前医学检查、产前筛查及产前诊断,以预防和减少出生缺陷的发生.

  9. 基因组学在预防出生缺陷中的应用%Application of Genomic Technologies in the Prevention of Birth Defects

    Institute of Scientific and Technical Information of China (English)

    曹建军; 方锴; 杨焕明

    2013-01-01

    China is a country suffering from high rate, 5.6%, of birth defects. Birth defects as one of the most commom causes of infant death, has risen to the second cause of infant death in 2011 from the fourth in 2000. In 2011, 19.1%infant deaths were from birth defects. Genetic factor is one of the most important factors of birth defects. With the rapid development of genomics research and genetic testing platform, the genetic testing has been more widely used in the prevention of birth defects. In this paper, we discuss the application of genomic technologies, as well as its importance, in the prevention of birth defects as for the three levels′ system of birth defects prevention.%中国是出生缺陷的高发国,出生缺陷总发生率约为5.6%,出生缺陷在全国婴儿死因中的构成比顺位由2000年的第4位上升至2011年的第2位,达到19.1%。遗传因素是出生缺陷发生的一个重要原因,随着基因组学的研究进展以及基因检测平台的高速发展,使得基因检测在常见的染色体异常、新生儿代谢性疾病及单基因病等出生缺陷预防中的应用越来越广泛。以出生缺陷的三级预防体系为基础,探讨基因组学在其体系中的应用对完善中国出生缺陷的预防工作是非常重要的。

  10. 306例出生缺陷患儿追踪结局分析%Analysis of the outcome of 306 children born with birth defects

    Institute of Scientific and Technical Information of China (English)

    张颖; 彭振耀; 刘凯波; 潘迎

    2011-01-01

    目的 了解活产出生缺陷患儿的结局.方法 对306例2007年7月~2008年9月分娩且家长均居住在北京市海淀区的306例活产出生缺陷患儿,分娩6~8个月时通过电话调查方式询问出生缺陷惠儿家长.结果 306例出生缺陷种类主要为先天性心脏病、多指/趾、除小耳和无耳的外耳畸形、睾丸未降、尿道下裂,占调查总数的75.16%o出生缺陷患儿分娩后6~8个月时的追踪结局主要包括:死亡15例(占4.90%),到医院复诊过至少1次的208例(占67.97%),未到医院复查的76例(占27.13%),家长拒绝承认孩子有出生缺陷的7例(占2.29%).结论 先天性心脏病仍然是影响婴儿死亡和健康的最主要的出生缺陷;应提高出生缺陷的筛查、诊断水平,明确出生缺陷诊断标准;加强医生与出生缺陷患儿家长的沟通.%Objective: To describe the outcome of children born with birth defects. Methods: Between July 2007 and September 2008, 306 live bom cases of birth defects were diagnosed and registered by the Beijing Birth Defects Monitoring network-a hospital based birth defects registry system. Their parents were called to assess their survival status from birth up to the age of 6 - 8 months. Results: The major birth defects types were congenital heart defects, polydactyly, congenital malformations of ear excluding absence of ear, undescended testicle, hypospadias, the total proportions of all was 75. 16%. The proportions of all live born infants with birth defects , died at the end of the 6-8 months, having been to the hospital once at least, not having been to the hospital, not acknowledging the fact of infants' birth defects were 4. 90% , 67. 97% , 27. 13% , and 2. 29% respectively. Conclusions; Congenital heart disease make an important contribution to infant mortality and health. The level of screening and diagnosis of birth defects should be improved. The relationship of physician and parents of children bom with birth defects should

  11. 如皋市出生缺陷病因与死亡原因分析%Analysis of the causes of birth defects and death in Rugao

    Institute of Scientific and Technical Information of China (English)

    丁燕; 顾建明; 陆平; 黄文美; 李鸿斌

    2013-01-01

    Objective To evaluate the causes of birth defects and death at present .Methods The data of birth defects from 2007 to 2012 were retrospectively analyzed and periodically compared .Results The incidence rate of birth defects was 6.04‰from 2007 to 2012, and the average annual decline rate was 0.21‰.The top ten causes of birth defects were cleft lip and cleft palate , polydactyly and syndactyly , congenital malformations of cardiac septa , talipes equinovarus , congenital stenosis and atresia of the colon , congenital absence atresia and stricture of (external) auditory canal, microtia, congenital hydrocephalus, hypospadias, and bifid spine.They accounted for 79.14% of the total number of birth defects , and the surface defects of musculoskeletal system and digestive system were the majority .The top ten causes of death of birth defects were congenital malformations of cardiac septa , cleft lip and cleft palate , other congenital malformations of heart, congenital hydrocephalus , congenital stenosis and atresia of the colon , other shortage deformities of brain , congenital diaphragmatic hernia, congenital hydronephrosis , gastroschisis, and spina bifida.They accounted for 76.58% of death cases of birth defects and 20.38%of birth defects.Among them diseases of circulatory system and nervous system were the majority .The perinatal mortality rate of birth defects was 1.45‰,and the infant mortality rate of birth defects was 0.74‰.Folic acid supplementary items could not reduce the incidence of neural tube malformation in Rugao obviously (χ2 =0.21,P>0.05).The incidence of birth defects in boys was higher than girls(χ2 =6.12,P<0.05), and that of maternal age ≥30 was higher(χ2 =6.87,P<0.05).Conclusion Increased incidence of birth defects has been corrected , and comprehensive intervention measures play a role .It is suggested that the monitor of birth defects in nervous system and circulatory system should be promoted to explore the relationship between the

  12. An evolutionary genomic approach to identify genes involved in human birth timing.

    Directory of Open Access Journals (Sweden)

    Jevon Plunkett

    2011-04-01

    Full Text Available Coordination of fetal maturation with birth timing is essential for mammalian reproduction. In humans, preterm birth is a disorder of profound global health significance. The signals initiating parturition in humans have remained elusive, due to divergence in physiological mechanisms between humans and model organisms typically studied. Because of relatively large human head size and narrow birth canal cross-sectional area compared to other primates, we hypothesized that genes involved in parturition would display accelerated evolution along the human and/or higher primate phylogenetic lineages to decrease the length of gestation and promote delivery of a smaller fetus that transits the birth canal more readily. Further, we tested whether current variation in such accelerated genes contributes to preterm birth risk. Evidence from allometric scaling of gestational age suggests human gestation has been shortened relative to other primates. Consistent with our hypothesis, many genes involved in reproduction show human acceleration in their coding or adjacent noncoding regions. We screened >8,400 SNPs in 150 human accelerated genes in 165 Finnish preterm and 163 control mothers for association with preterm birth. In this cohort, the most significant association was in FSHR, and 8 of the 10 most significant SNPs were in this gene. Further evidence for association of a linkage disequilibrium block of SNPs in FSHR, rs11686474, rs11680730, rs12473870, and rs1247381 was found in African Americans. By considering human acceleration, we identified a novel gene that may be associated with preterm birth, FSHR. We anticipate other human accelerated genes will similarly be associated with preterm birth risk and elucidate essential pathways for human parturition.

  13. Prevalence Study of Birth Defects in the City of Panzhihua%攀枝花市出生缺陷的现况调查

    Institute of Scientific and Technical Information of China (English)

    徐永莲; 张方芳; 唐俊; 罗汝琼; 伍文霞; 张光艳

    2012-01-01

    Objective: To develop the prevention of birth defects and improve the quality of births from the prehension of the incidence, distribution characteristics, influencing factors and causes of birth defect, and institute implementation. Methods: Babies born between October 1st 2008 and September 30th 2011 were recorded according to the city monitoring program of birth defect. Results: There are totally 30 111 perinatal babies are observed and diagnosed. 381 babies with over twenty-eight weeks old were found birth defect. The rate of birth defect was 12.65 per thousand. To make a comparison between male and female, the difference have significant. Male incidence was statistical higher than female incidence (x2=ll.49,P〈0.01). There was no differences on birth defects mothers in all age groups. The main birth defect were cleft lips, ear deformity and multi finger toe in Panzhihua. Conclusion: The rate of birth defect decreased in near three years in Panzhihua. The keys of reduction lied in completely intervention measures on birth defects, three Prevention measures and enhanced health care during pregnancy.%目的:掌握攀枝花市出生缺陷发生率,了解出生缺陷分布特征、影响因素、发生原因等,制定预防出生缺陷实施方案,提高出生人口素质。方法:按照“攀枝花市出生缺陷监测方案”的要求,在攀枝花市所有出生缺陷监测单位对2008年10月1日至2011年9月30日出生的围产儿进行监测。结果:共监测30111例围产儿,胎龄28周以上出生缺陷381例,出生缺陷发生率为126.5/万;男性出生缺陷发生率高于女性,差异具有统计学意义(x2=11.49,P〈0.01);出生缺陷儿母亲各年龄组间差异无统计学意义。攀枝花市出生缺陷主要为总唇裂、多指(趾)、外耳畸形等。结论:攀枝花市三年来出生缺陷发生率呈下降趋势;全面实施出生缺陷干预措施,认真落实“三级预防”措施、

  14. Analysis on monitoring results of 554 cases with birth defects%554例出生缺陷监测结果分析

    Institute of Scientific and Technical Information of China (English)

    黄彩练

    2011-01-01

    Objective; To understand the prevalence, change trend and related factors of birth defects in liuyang city, provide a basis for making intervening measures. Methods; According to the requirements of brochure of birth defect monitoring of Chinese, the fetuses and infants whose mothers lived in 37 villages, towns and streets (including natives or those who had lived in Liuyang city for more than one year) were monitored from October first, 2006, the monitoring time was from 28 gestational weeks to 42 days after birth. Results; The incidence of birth defects was 108.70 per ten thousand, the incidence of birth defects in rural areas was 114. 28 per ten thousand, which was significantly higher than that in urban areas (64. 58 per ten thousand) (X2 = 11. 68, P < 0.01) . The mortality of perinatal infants was 7.93%0, the mortality of perinatal infants with birth defects was 3. 55%0, accounting for 44. 80% , birth defect was a main cause of perinatal death. The top five birth defects were accessory auricle, polydactyly, congenital heart disease, cleft lip with or without cleft palate and talipes equinovarus. Conclusion: Health education should be carried out widely among the population of childbearing age, supplement of folic acid should be popularized, health care before pregnancy and during the first trimester of pregnancy should be enhanced, the factors inducing birth defects should be avoided, consultation about prepotency, prenatal examination and prenatal diagnosis should be conducted, all the a-bove - mentioned measures are effective to reduce the occurrence of birth defects.%目的:了解浏阳市出生缺陷的发生状况、变化趋势及相关因素,为制定干预措施提供依据。方法:按照《中国人群出生缺陷监测手册》要求,从2006年10月1日起对居住在浏阳市37个乡、镇、街道产妇(包括本地户口及非本地户口在浏阳市居住1年以上的产妇)的胎婴儿进行人群监测,监测期限为孕满28周~产后42天

  15. How Can We Use Bioinformatics to Predict Which Agents Will Cause Birth Defects?

    Science.gov (United States)

    The availability of genomic sequences from a growing number of human and model organisms has provided an explosion of data, information, and knowledge regarding biological systems and disease processes. High-throughput technologies such as DNA and protein microarray biochips are ...

  16. How Can We Use Bioinformatics to Predict Which Agents Will Cause Birth Defects?

    Science.gov (United States)

    The availability of genomic sequences from a growing number of human and model organisms has provided an explosion of data, information, and knowledge regarding biological systems and disease processes. High-throughput technologies such as DNA and protein microarray biochips are ...

  17. Study on Birth Defect Intervention and Standardization Mode%出生缺陷干预及规范化模式的研究

    Institute of Scientific and Technical Information of China (English)

    刁文强; 幸惠云

    2015-01-01

    Objective:To study and explore the intervention of birth defects on the effect of themarried couples, in order to reduce the birth rate of birth defects, improve the comprehensive quality of the birth population reference.Method: 12 000 married couples in our region from June 2011 to May 2014 were selected as the research objects, and they were given birth defect intervention on its three. The first level intervention was to prevent the birth of children with birth defects, secondary interventions was to reduce the incidence of birth defects, three intervention was to treat children of birth defects. Interventions focus was on primary intervention to prevent birth defects in children born.District,town,village three level of division of labor,cooperation, for marriedcouples of childbearing age premarital examination,free eugenics propaganda and education,pre pregnancy virus and genetic disease detection, pre pregnancy and early pregnancytaking free pregnancy B ultrasound examination,Fu Shi Fu,regular follow-up.Result:Premarital education to carry out rate,pre-marital medical examination rate,pregnancy B-examination and regular follow-up of the number of persons in 2014 were significantly higher than those of 2013,2012 and 2011(P<0.05).Early pregnancy rates of four viruses tested positive for the virus (rubella virus,herpes virus, Toxoplasma gondii, cytomegalovirus), a genetic disease before pregnancy rate (thalassemia,G6PD deficiency) in 2014 were significantly higher than those of 2013, 2012 and 2011(P<0.05).And the number of women in early pregnancy taking Forceval was significantly higher than that of 2013,2012 and 2011.The birth defect rate in 2014 was significantly lower than that in 2013,2012,2011(P<0.05), the intensity was positively correlated with the level of intervention.Conclusion:For married women of childbearing age of birth defect intervention, especially the level of intervention, to the birth of children with birth defects play a preventive role

  18. 出生缺陷儿母亲心理健康状况调查研究%An investigation on psychological status of maternal of birth defects

    Institute of Scientific and Technical Information of China (English)

    黄广文; 杜其云; 刘智昱

    2012-01-01

    Objective To explore the psychological status of mother of birth defects so as to explore effective intervention strategy. Methods 595 maternal of birth defects and 1 249 maternal of no birth defects were included in the case-control study. General data questionnaire and Symptom Checklist 90 (SCL-90) were filled out by mother with or without birth defects. Results Scores of Somatization, Obsessive Symptom, Personal relations, Depression, Anxiety, Hostility, Terror, Paranoid ideal, Psychoticism of SCL-90 factors of mother of birth defects were significantly higher than that of mother without birth defects (both P0.05), scores of Terror factor among different age of mother of birth defects was significantly different (P0.05). Conclusions The psychological status of mother of birth defects are at low-level, we should pay more attention to interview with mother of birth defects.%目的 探讨出生缺陷儿母亲心理健康状况,为制定干预措施提供依据.方法 采用一般情况调查问卷及症状自评量表(SCL-90)对595例出生缺陷儿母亲及1 249例出生正常儿母亲进行调查评定.结果 SCL-90的9个因子中,出生缺陷儿母亲躯体化、强迫症状、人际关系、抑郁、焦虑、敌对、恐怖、偏执、精神病性因子分均明显高于出生正常儿母亲(均有P<0.01).出生缺陷儿母亲不同受教育程度之间SCL-90因子分比较差异均有统计学意义(均有P<0.05);不同职业之间SCL-90因子分比较,差异无统计学意义(均有P>0.05);不同年龄段之间SCL-90恐怖因子分比较,差异有统计学意义(P<0.01).城镇与农村出生缺陷儿母亲SCL-90因子分比较,差异无统计学意义(均有P>0.05).结论 出生缺陷儿母亲心理健康水平低,应加强出生缺陷儿母亲心理干预.

  19. Determining the role of the telomere on the severity of birth defects

    Energy Technology Data Exchange (ETDEWEB)

    Altherr, M.R.; Wright, T.J.; Perez-Castro, A.V. [and others

    1998-11-01

    This is the final report of a three-year, Laboratory Directed Research and Development (LDRD) project at the Los Alamos National Laboratory (LANL). The work resulted in publication of eight manuscripts in peer-reviewed journals. Ten papers were presented at meetings of professional societies and one of these resulted in an award to a student for ''Outstanding Undergraduate Research.'' The research conducted under this program has had a profound effect on the characterization of a human malady, the Wolf Hirschhorn syndrome (WHS), caused by a terminal deletion of chromosome 4. The available genomic sequence and their attempts to characterize the potential transcriptional units has sharpened their focus on the development of methods to explore the functional significance of the human genome.

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

    Science.gov (United States)

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2011-11-15

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

  2. Rational Reflections about Euthanasia of Newborn with Birth Defect%对缺陷新生儿安乐死问题的理性思考

    Institute of Scientific and Technical Information of China (English)

    高华

    2012-01-01

    Currently, there is semi-open and hidden euthanasia of newborn with birth defects. Due to great family burden, social tolerance and the incomplete relevant legislation of birth defect, this phenomenon has existed for a long time. In order to avoid abuse, disordered and protect the interests of non-serious defects newborn, this article suggests that it should develop regulations as an important component of the birth defect intervention legislation.%分析目前我国存在着的半公开的、隐蔽的缺陷新生儿安乐死行为,因家庭负担、社会宽容态度和相关法律不完善致使该现象长期存在.当务之急是制定缺陷新生儿处置法规并将其作为整个出生缺陷干预立法的重要组成部分,以此来避免缺陷新生儿安乐死行为的滥用和无序,保障成千上万非严重缺陷新生儿的生命权益.

  3. Hispanic ethnicity and acculturation, maternal age and the risk of gastroschisis in the National Birth Defects Prevention Study.

    Science.gov (United States)

    Khodr, Zeina G; Lupo, Philip J; Canfield, Mark A; Chan, Wenyaw; Cai, Yi; Mitchell, Laura E

    2013-08-01

    Studies indicate that gastroschisis is associated with maternal age, ethnicity, and acculturation. This analysis was conducted to further define the associations between gastroschisis and parental Hispanic ethnicity and acculturation, and to determine whether such associations vary by maternal age. This study was based on data from mothers of 753 gastroschisis cases and 6,496 control infants in the National Birth Defects Prevention Study. The relationships between gastroschisis and both parental Hispanic ethnicity and acculturation, within maternal age strata (Hispanic ethnicity or acculturation. Among mothers ≥20 years old, US-born non-Hispanic white parents had a lower risk of gastroschisis in offspring as compared to either US-born Hispanic (odds ratios [ORs] ranging from 0.55 to 0.60) or English-speaking Hispanic (ORs ranging from 0.58 to 0.65) parents. Further, compared with US born Hispanic women ≥20 years, the risk of gastroschisis was lower for Hispanic women who had lived in the US evidence that gastroschisis risk is associated with ethnicity and some aspects of acculturation. Additionally, these associations were limited to the offspring of women who are ≥20 at the time of conception. Copyright © 2013 Wiley Periodicals, Inc.

  4. Detection results of birth defects in 5,281 perinatal infants%5281例围产儿出生缺陷监测结果分析

    Institute of Scientific and Technical Information of China (English)

    陈燕玲; 黄惠萍; 卢伟棉

    2013-01-01

    目的 降低出生缺陷率,提高人口素质.方法 对2008年10月1日至2010年9月30日于本院分娩的5281例围产儿出生缺陷情况及其相关危险因素进行统计、分析,为开展出生缺陷的预防和干预提供依据.结果 3年来围产儿出生缺陷率平均为16.10‰,呈逐年上升趋势.先天性心脏病以及四肢骨骼肌肉系统缺陷为最常见的出生缺陷,分列1、2位.孕母年龄对围产儿出生缺陷有重要影响,>35岁组出生缺陷率明显高于其他各年龄组.出生缺陷的性别、产母居住地城乡差异均无统计学意义(P>0.05).结论 加强孕前、孕早期预防以及产前诊断,可减少出生缺陷的发生;需进一步加强胎儿心血管系统、四肢等超声产前检查;高龄孕妇孕中期应常规行产前诊断.%Objective To reduce the rate of birth defects and improve the quality of population.Methods Birth defects and its related risk factors were statistically analyzed in 5,281 perinatal infants who had been born in our hospital during the period of October 1,2008 to September 30,2010 so as to provide support for the prevention and intervention of birth defects.Results The rate of birth defects was 16.10 per thousand in the recent three years,with an increasing trend year by year.Congenital heart disease and defects of extremities musculoskeletal system were the most common birth defects,ranking the first and second place.Maternal age had an important impact on birth defects.Pregnant women aged >35 had a significantly higher rate of birth defects than those with different ages.No significant differences in sexes and both urban and rural areas were found.Conclusions Intensified prevention before pregnancy and in early pregnancy and strengthened prenatal diagnosis can reduce the incidence of birth defects.Prenatal ultrasonic examination for fetal cardiovascular system and limbs needs to be further strengthened.The women of advanced maternal age should receive routine

  5. 2008-2010年围产期出生缺陷分析%2008-2010 years perinatal birth defect analysis

    Institute of Scientific and Technical Information of China (English)

    景丽丽

    2011-01-01

    Objective: in order to know the QingShanOu incidence of birth defects, this paper discusses the related factors birth defects happen for formulating and take measures to provide the basis. Methods: according to the national birth defects monitoring scheme, at the request of (2008-2010) on October 1, 2007-October 31, 2010 QingShanOu 5 home delivery hospital inpatient delivery at full and thoughtful within 7 days after perinatal infants dead for monitoring. Results: three years were monitoring perinatal infants dead 11 850 cases, birth defects in 104 cases, de- fect rate of 8.8%, which was born in 2008 to 3.6 per 2009, defects in 10.1%~, in 2010 to 13.2 per thousand. Birth defects increasing year by year, the top five birth defects is as follows: (1) the outer ear malformation; (2) by and means; Cleft palate (3); (4) foot deformity; (5) head facial deformity. Mother from air pollution in the area close to significantly higher than the far from air pollution area, mother of low degree of culture birth defects son is obviously higher than that of the culture degree is high. The occurrence of the birth defects and gender no phase relationship. Conclusion: to widely develop health education, general knowledge level of eugenic and superior nurture, strengthen the examination before marriage, prenatal care and prenatal diagnosis work.%目的:了解青山区出生缺陷发生率,探讨出生缺陷发生的相关因素,为制定和采取预防干预措施提供依据。方法:按照全国出生缺陷监测方案的要求,对(2008-2010年)2007年10月1日-2010年10月31日青山区5家分娩医院住院分娩的孕满28周到产后7天内围产儿进行监测。结果:3年共监测围产儿11850例,出生缺陷儿104例,缺陷发生率为8.8%,其中2008年出生缺陷率为3.6%。、2009年为10.1%。、2010年为13.2%。。出生缺陷呈逐年上升趋势,前5位出生缺陷依次为:①外耳畸

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

    Science.gov (United States)

    ORIOLI, IÊDA M.; AMAR, EMMANUELLE; ARTEAGA-VAZQUEZ, JAZMIN; BAKKER, MARIAN K.; BIANCA, SEBASTIANO; BOTTO, LORENZO D.; CLEMENTI, MAURIZIO; CORREA, ADOLFO; CSAKY-SZUNYOGH, MELINDA; LEONCINI, EMANUELE; LI, ZHU; LÓPEZ-CAMELO, JORGE S.; LOWRY, R. BRIAN; MARENGO, LISA; MARTÍNEZ-FRÍAS, MARÍA-LUISA; MASTROIACOVO, PIERPAOLO; MORGAN, MARGERY; PIERINI, ANNA; RITVANEN, ANNUKKA; SCARANO, GIOACCHINO; SZABOVA, ELENA; CASTILLA, EDUARDO E.

    2015-01-01

    Sirenomelia is a very rare limb anomaly in which the normally paired lower limbs are replaced by a single midline limb. This study describes the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system members of the International Clearinghouse for Birth Defects Surveillance and Research, and were reported according to a single pre-established protocol. Cases were clinically evaluated locally and reviewed centrally. A total of 249 cases with sirenomelia were identified among 25,290,172 births, for a prevalence of 0.98 per 100,000, with higher prevalence in the Mexican registry. An increase of sirenomelia prevalence with maternal age less than 20 years was statistically significant. The proportion of twinning was 9%, higher than the 1% expected. Sex was ambiguous in 47% of cases, and no different from expectation in the rest. The proportion of cases born alive, premature, and weighting less than 2,500 g were 47%, 71.2%, and 88.2%, respectively. Half of the cases with sirenomelia also presented with genital, large bowel, and urinary defects. About 10–15% of the cases had lower spinal column defects, single or anomalous umbilical artery, upper limb, cardiac, and central nervous system defects. There was a greater than expected association of sirenomelia with other very rare defects such as bladder exstrophy, cyclopia/holoprosencephaly, and acardia-acephalus. The application of the new biological network analysis approach, including molecular results, to these associated very rare diseases is suggested for future studies. PMID:22002878

  7. The Molecular Basis of Hereditary Enamel Defects in Humans

    Science.gov (United States)

    Carrion, I.A.; Morris, C.

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel. PMID:25389004

  8. The molecular basis of hereditary enamel defects in humans.

    Science.gov (United States)

    Wright, J T; Carrion, I A; Morris, C

    2015-01-01

    The formation of human enamel is highly regulated at the molecular level and involves thousands of genes. Requisites for development of this highly mineralized tissue include cell differentiation; production of a unique extracellular matrix; processing of the extracellular matrix; altering of cell function during different stages of enamel formation; cell movement and attachment; regulation of ion and protein movement; and regulation of hydration, pH, and other conditions of the microenvironment, to name just a few. Not surprising, there is a plethora of hereditary conditions with an enamel phenotype. The objective of this review was to identify the hereditary conditions listed on Online Mendelian Inheritance in Man (OMIM) that have an associated enamel phenotype and whether a causative gene has been identified. The OMIM database was searched with the terms amelogenesis, enamel, dental, and tooth, and all results were screened by 2 individuals to determine if an enamel phenotype was identified. Gene and gene product function was reviewed on OMIM and from publications identified in PubMed. The search strategy revealed 91 conditions listed in OMIM as having an enamel phenotype, and of those, 71 have a known molecular etiology or linked genetic loci. The purported protein function of those conditions with a known genetic basis included enzymes, regulatory proteins, extracellular matrix proteins, transcription factors, and transmembrane proteins. The most common enamel phenotype was a deficient amount of enamel, or enamel hypoplasia, with hypomineralization defects being reported less frequently. Knowing these molecular defects allows an initial cataloging of molecular pathways that lead to hereditary enamel defects in humans. This knowledge provides insight into the diverse molecular pathways involved in enamel formation and can be useful when searching for the genetic etiology of hereditary conditions that involve enamel.

  9. Assessment of risk factors for infantile cataracts using a case-control study: National Birth Defects Prevention Study, 2000-2004.

    Science.gov (United States)

    Prakalapakorn, Sasapin G; Rasmussen, Sonja A; Lambert, Scott R; Honein, Margaret A

    2010-08-01

    To identify risk factors for infantile cataracts of unknown etiology. Case-control study. Case infants (n = 152) and control infants (n = 4205) enrolled in the National Birth Defects Prevention Study for birth years 2000-2004. Multivariate analysis was performed exploring associations for risk factors for bilateral and unilateral infantile cataracts of unknown etiology. Infantile cataracts of unknown etiology. Maternal interviews were completed for 43 case infants with bilateral and 109 with unilateral infantile cataracts of unknown etiology. Very low birth weight (birth weight (1500-2499 g) was only associated with bilateral cataracts (OR, 3.3; 95% CI, 1.3-8.1). Infants with unilateral cataracts were more likely to be born to primigravid women (OR, 1.6; 95% CI, 1.0-2.7) than women with > or =2 previous pregnancies, although this was of borderline significance. Although not significant, effect estimates were elevated suggesting a possible association between unilateral cataracts and maternal substance abuse during pregnancy, and between bilateral cataracts and urinary tract infection during pregnancy and aspirin use during pregnancy. Very low birth weight is associated with both bilateral and unilateral cataracts, whereas low birth weight is associated with bilateral cataracts and primigravidity with unilateral cataracts. Other associations, although not statistically significant, suggest risk factors that merit further research. Copyright 2010 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  10. Assessment of risk factors for infantile cataracts using a case-control study, National Birth Defects Prevention Study, 2000–2004

    Science.gov (United States)

    Prakalapakorn, Sasapin G.; Rasmussen, Sonja A.; Lambert, Scott R.; Honein, Margaret A.

    2010-01-01

    Objective To identify risk factors for infantile cataracts of unknown etiology. Design Case-control study Participants Case-infants (N=152) and control-infants (N=4205) enrolled in the National Birth Defects Prevention Study for birth years 2000–2004. Methods Multivariate analysis was performed exploring associations for risk factors for bilateral and unilateral infantile cataracts of unknown etiology. Main Outcome Measures Infantile cataracts of unknown etiology Results Maternal interviews were completed for 43 case-infants with bilateral and 109 with unilateral infantile cataracts of unknown etiology. Very low birth weight (birth weight (1500–2499g) was only associated with bilateral cataracts (OR=3.3; 95% CI=1.3–8.1). Infants with unilateral cataracts were more likely to be born to primigravid women (OR=1.6; 95% CI=1.0–2.7) than women with two or more previous pregnancies, although this was of borderline significance. While not statistically significant, effect estimates were elevated suggesting a possible association between unilateral cataracts and maternal substance abuse during pregnancy, and between bilateral cataracts and urinary tract infection during pregnancy and aspirin use during pregnancy. Conclusions Very low birth weight is associated with both bilateral and unilateral cataracts, while low birth weight is associated with bilateral cataracts and primigravidity with unilateral cataracts. Other associations, while not of statistical significance, suggest risk factors that merit further research. PMID:20363508

  11. A rapid evolution mechanism may contribute to changes in sex ratio, multiple birth incidence, frequency of auto-immune disease and frequency of birth defects in Clomid conceptions.

    Science.gov (United States)

    Fischer, K

    1990-01-01

    Under conditions favourable to the horizontal transmission of genetic material, a clomiphene isomer is hypothesized to encourage an alternate ovulatory route, with consequence for the sex ratio, multiple birth incidence, incidence of auto-immune disease, and frequency of malformations.

  12. Quasi-conformal remapping for compensation of human visual field defects - Advances in image remapping for human field defects

    Science.gov (United States)

    Juday, Richard D.; Loshin, David S.

    1989-01-01

    Image coordinate transformations are investigated for possible use in a low vision aid for human patients. These patients typically have field defects with localized retinal dysfunction predominately central (age related maculopathy) or peripheral (retinitis pigmentosa). Previously simple eccentricity-only remappings which do not maintain conformality were shown. Initial attempts on developing images which hold quasi-conformality after remapping are presented. Although the quasi-conformal images may have less local distortion, there are discontinuities in the image which may counterindicate this type of transformation for the low vision application.

  13. 武汉市出生缺陷相关因素分析%Analysis on the related factors of birth defect in Wuhan city

    Institute of Scientific and Technical Information of China (English)

    张斌; 杨蓉; 刘明珠; 刘艳; 胡荣华; 杜玉开

    2011-01-01

    Objective; To understand the current situation of birth defect in Wuhan city from 2008 to 2010, explore the related effect factors of birth defect, provide a basis for further study. Methods; The data of birth defect were collected from 11 obstetrical institutions in Wuhan, 933 infants with birth defect were selected as case group, 933 lying - in women who gave birth to normal neonates from 2008 to 2010 were selected from Wuhan MCH information system as control group, the related data were obtained according to report cards of birth defect and MCH information system, then statistical analysis was performed. Results; The incidence of birth defect in Wuhan city from 2008 to 2010 was 17.77% , the incidence of birth defect in remote urban area was significantly higher than that in central urban area ( P <0.01); the incidence of birth defect among the lying - in women less than 25 years, equal to and more than 35 years were significantly higher than that among the lying - in women aged 25 ~35 years old (P <0.01) ; 11 factors, such as gravida, fetal gender, being ill during the first trimester of pregnancy, were used as independent variables for logistic regression analysis, the result showed that permanent address during pregnancy, being ill during the first trimester of pregnancy and spontaneous abortion history were included into the modeL Living in remote urban area, viral infection and hyperemesis gravidarum during the first trimester of pregnancy, spontaneous abortion history ( more than two times) increased the risk of birth defect. Conclusion; Primary prevention of birth defect should be paid more attention to, large - scale case - control study based on population should be carried out, and the epidemiological factors of birth defect should be understood, in order to a-dopt corresponding interventional measures and reduce the occurrence of birth defect.%目的:了解2008~2010年武汉市出生缺陷发生的情况,弄清对出生缺陷发生有影响的相关

  14. Epidemiologic characteristics of birth defects in Shaanxi province in 2010%陕西省2010年出生缺陷流行特征分析

    Institute of Scientific and Technical Information of China (English)

    吴小琴; 李盘; 周晓娟; 杨杨

    2012-01-01

    [目的]了解陕西省目前的出生缺陷发生水平及流行特征,为进一步探讨影响该省出生缺陷发生的危险因素提供科学依据. [方法]按照中国出生缺陷监测方案,对2010年度陕西省25家监测医院出生的孕28周至生后7d所有围产儿进行出生缺陷监测,采用Excel 2003软件进行数据录入,SPSS 13.0软件进行统计学分析. [结果]2010年陕西省医院监测的出生缺陷发生率为124.1/万,前五位出生缺陷依次为:先天性心脏病(16.4/万)、总唇裂(13.3/万)、神经管缺陷(13.1/万)、多指(趾)(11.3/万)、脑积水(5.1/万).农村的出生缺陷发生率高于城镇(x2=8.58,P<0.01).出生缺陷发生率无性别分布差异.母亲年龄≥35岁的缺陷发生率最高(170.5/万).双胎及以上的围产儿缺陷发生率明显高于单胎儿. [结论]陕西省2010年出生缺陷发生率低于全国同期水平,该省出生缺陷的分布具有明显的城乡、母亲年龄及胎数差异.政府部门应重视神经管缺陷在农村地区的一级预防工作,并针对高龄及多胎妊娠产妇采取有效预防措施.%[Objective] To investigate the incidence and epidemiologic characteristics of birth defects in Shaanxi province, and then to provide scientific evidences for exploring risk factors further. (Methods] According to "The Birth Defects Monitoring Program of China", all perinatal infants aged from 28 weeks of gestation to 7 days after birth in 25 monitoring hospitals in Shaanxi province in 2010 were monitored for birth defects, the data were entered by Excel 2003 and analyzed by SPSS 13. 0 software. [Results] The incidence of birth defects in Shaanxi province in 2010 was 124. 1/104 .The top five main birth defects were congenital heart diseases, total cleft lip, neural tube defects, polydactyly,congenital hydrocephalus, respectively,The incidence of birth defects in rural areas was significantly higher than that in urban areas (xz = 8. 58, P< 0. 01). There were no

  15. Monitoring analysis of birth defects from 2009 to 2010 in Guangzhou%广州市2009至2010年出生缺陷监测分析

    Institute of Scientific and Technical Information of China (English)

    邹兴文; 王平; 杨丽

    2011-01-01

    目的 探讨广州市2009至2010年出生缺陷发生率、发生类型、转归及影响因素.方法 收集并分析广州市全部148家医院在2009至2010年期间分娩儿出生缺陷监测资料.结果 共监测352 084例围产儿,发生出生缺陷5 724例,出生缺陷发生率162.6/万,前五位缺陷类型依次是先天性心脏病、多指(趾)、总唇腭裂、马蹄内翻足和外耳其他畸形.男性围产儿的出生缺陷发生率高于女性(177.74/万 vs 144.66/万,P<0.05),早产儿的出生缺陷发生率高于足月儿(756.40/万 vs 122.19/万,P<0.05),孕母年龄越大,发生出生缺陷的风险越高(P<0.05).严重出生缺陷的治疗性引产率超过60%.结论 广州市出生缺陷发生率偏高,应重视对男婴、早产儿的先天畸形检查,加强对高龄孕妇的管理.提高产前确诊率和致死性畸形的治疗性引产率.%Objective To explore the incidence, type, outcomes and influencing factors of birth defects in Guangzhou from 2009 to 2010. Methods The data of birth defects during this period from all of 148 hospitals in Guangzhou was collected and analyzed. Results Among 352 084 perinatal infants monitored, 5724 cases were detected with birth defects with incidence of 162. 6 per ten thousand. The first five birth defects were congenital heart disease, polydactylia, total cheiloschisis/palatoschisis, congenital talipes equino varus and deformity of external ear in order. The incidence of birth defects in boys was higher than that in girls (177. 74/ten thousand vs 144. 66/ten thousand, P < 0. 05 ), and it was higher in premature infants than term infants ( 756. 40/ten thousand vs 122. 19/ten thousand, P < 0. 05 ). The older the pregnant women were, the greater the risk of birth defects was. The rate of therapeutic termination of severe birth defects was more than 60%. Conclusion The incidence of birth defects is slightly high in Guangzhou. Attention should be paid to malformation examination on male infants and

  16. Study on the Secondary Prevention Strategy for Birth Defects%出生缺陷二级预防策略的研究

    Institute of Scientific and Technical Information of China (English)

    宋桂荣; 肖绪武; 孙瑾; 刘启贵

    2013-01-01

    Objective:To evaluate and compare the economic effectiveness of three strategies of the sec-ondary prevention for birth defects in order to provide the basis for the prevention decision on congenital disa-bilities .Methods:A decision tree model was used to make a decision analysis on the cost-effectiveness of the three strategies .Results :The birth defects detection rates of three strategies were 82 .82% ,98 .2% ,94 . 50% respectively .The cost of one birth defect detected of the third strategy was lowest .Conclusions :In-creasing an ultrasound screening for high-risk pregnant women is an economical and effective strategy to pre-vent birth defects .%目的:评价、比较出生缺陷的3种二级预防策略的经济学效果,为有效预防先天性残疾提供决策依据。方法:采用决策树模型,对3种策略的成本-效果进行比较。结果:3种策略的出生缺陷检出率分别为82.82%、98.2%、94.50%,策略3成本/效果比最低。结论:高危孕妇增加超声筛查是一种既经济又有效的预防策略。

  17. Craniofacial Birth Defects: The Role of Neural Crest Cells in the Etiology and Pathogenesis of Treacher Collins Syndrome and the Potential for Prevention

    OpenAIRE

    2010-01-01

    Of all the babies born with birth defects, approximately one-third display anomalies of the head and face [Gorlin et al., 1990] including cleft lip, cleft palate, small or absent facial and skull bones and improperly formed nose, eyes, ears, and teeth. Craniofacial disorders are a primary cause of infant mortality and have serious lifetime functional, esthetic, and social consequences that are devastating to both children and parents alike. Comprehensive surgery, dental care, psychological co...

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

    Directory of Open Access Journals (Sweden)

    Lydia E. Farrell

    2014-12-01

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

  19. Research Progress of Factors Related to Birth Defect%出生缺陷相关因素的研究进展

    Institute of Scientific and Technical Information of China (English)

    梅盛平; 张红

    2011-01-01

    It is a basic national policy to control the size of the population and improve its quality in China,but birth defect is an important factor that affects the population quality.This paper summarizes the occurrence,classification,etiology,pathogenesis of birth defects and explores birth defect surveillance,intervention and prevention work so as to lay the foundation for improving population quality and protecting people’s health.%控制人口数量,提高人口素质是我国的一项基本国策,而出生缺陷则是严重影响人口素质的一个重要因素。文章综述出生缺陷的发生、分类、发病因素、发病机制,探讨我国出生缺陷的监测、干预和预防工作的开展,为提高人口素质,保护人群健康打下基础。

  20. Birth defects in Shandong, China, 2007-2010%山东省2007-2010年人群出生缺陷监测结果分析

    Institute of Scientific and Technical Information of China (English)

    周凤荣; 张蓬; 范媛媛; 陈志欣; 郝宝珍

    2011-01-01

    目的 了解山东省人群出生缺陷发生情况,为今后监测工作的管理重点和制定出生缺陷预防措施提供依据.方法 对2007——2010年山东省人群出生缺陷监测的数据进行率及顺位等分析.应用Visual FoxPro 6.0建立数据库,采用SPSS 15.0软件进行数据分析.结果 2007——2010年人群出生缺陷发生率分别为107.44/万、82.86/万、141.29/万和124.64/万,年度间人群出生缺陷发生率比较差异有统计学意义(P<0.01);人群出生缺陷发生率顺位从高到低依次为先天性心脏病、多指(趾)、总唇裂、脑积水、神经管缺陷、肢体短缩等.结论 山东省人群出生缺陷发生率在逐年上升,男性高于女性;出生缺陷先天性心脏病居首位,有逐年上升趋势.%Objective To analyze the occurrence of birth defects based on clinical outcomes of new born babies in Shandong province and provide scientific basis for early diagnosis and intervention. Methods The records of birth defects were collected for the year of 2007-2010. Visual FoxPro6. 0 was applied to set up a database and SPSS15. 0 was used for statistical analysis. Results The prevalence rates of birth defects were 107. 44, 82. 86, 141. 29 and 124. 64 per ten thousand newborns for the year of 2007-2010, repectively. The highest prevalence rate of birth defect was congenital heart disease (41. 06/10 000), followed by polydactyly (11. 41/10 0000), total cleftlip (11. 26/10 000), hydro-cephalus (8. 41/10 000) , neural tube defects (6. 84/10 000), limb reduction (3. 99/10 000) , and etc. There was higher frequency of birth defects in male babies (125. 68/10 000) than in female babies (98. 63/10 000). Conclusion Congenital heart disease is the most important birth defect. Maternal exam should include birth defect screening.

  1. 64例出生缺陷儿监测情况分析%Analysis of the outcome of 64 children born with birth defects

    Institute of Scientific and Technical Information of China (English)

    王香丽; 贾旭艳; 杨文方; 豆静

    2011-01-01

    Objective To analyze various related factors of birth defects so as to provide evidence for early prevention and reduce the rate of birth defects by monitoring the information of birth defect infants delivered or delivered with induction in our hospital during five years from 2006 to 2010. Methods The data of birth defect infants delivered in the hospital during these five years was retrospectively analyzed. Results There were 8215 cases of induction delivery and childbirth, 64 cases of which were birth defect infants. The average rate of birth defects was 7. 8‰. The top five types in the 64 cases were spina bifida ( 15. 6% ), hydrocephalus ( 14. 0% ), cleft lip ( 10.9% ), abnormal fingers and toes ( 9. 4% ) and cleft lip with cleft palate ( 7. 8% ) in turn. Analysis results indicated that the time when pregnancy started was related to birth defects. When pregnancy started in January, June or May, the rate of birth defects was higher than that in other months (x2 =5. 107, P < 0. 05 ), and the birth defects accounted up 48. 4% of all. Among the defect infants, males were more than females. The infants whose mothers lived in countryside and had poor education had higher birth defect rate. Conclusion Enhancing education on prepotency especially to married women in poor areas, picking pregnancy time, administering folic acid reasonably before pregnancy, establishing and perfecting primary prevention system, strengthening training for type-B ultrasonic physicians and clinicians, or improving prenatal monitoring and diagnosing technology is beneficial to prophylaxis of birth defects.%目的 通过监测西安交通大学医学院第一附属医院2006~2010年住院引产及分娩的出生缺陷婴儿情况,分析引起出生缺陷的各类相关因素,为早期预防并进一步降低出生缺陷率提供依据.方法 回顾性分析2006~2010年西安交通大学医学院第一附属医院的出生缺陷儿病例.结果 5年内共引产及分娩8 215

  2. Birth Defects Diagnosis

    Science.gov (United States)

    ... quad screen tests the levels of 4 proteins AFP (alpha-fetoprotein), hCG, estriol, and inhibin-A. Generally, ... of the proteins for which an amniocentesis tests. AFP AFP stands for alpha-fetoprotein, a protein the ...

  3. Birth Defects: Cerebral Palsy

    Science.gov (United States)

    ... to help relax muscle spasms, including: Diazepam (Valium®), baclofen (Lioresal®), dantrolene (Dantrium®) and tizanidine (Zanaflex®). Your child takes these by mouth. Baclofen, a medicine that your child gets through a ...

  4. Preventing Birth Defects

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    NERVIDUCT malformation caught the attention of the Chinese government in 1983 when professor Yan Renying, now director of the China Maternal and Infant Health Care Center, conducted an epidemiological survey of new-borns in Shunyi County, Beijing, and discovered that one-third of infant mortality in the area was caused by

  5. Endogenous human milk Peptide release is greater after preterm birth than term birth

    NARCIS (Netherlands)

    Dallas, D.C.; Smink, C.J.; Robinson, R.C.; Tian, T.; Guerrero, A.; Parker, E.A.; Smilowitz, J.T.; Hettinga, K.A.; Underwood, M.A.; Lebrilla, C.B.; German, J.B.; Barile, D.

    2015-01-01

    Background: Hundreds of naturally occurring milk peptides are present in term human milk. Preterm milk is produced before complete maturation of the mammary gland, which could change milk synthesis and secretion processes within the mammary gland, leading to differences in protein expression and enz

  6. Surveillance of birth defects: Brazil and the US Vigilância epidemiológica em anomalias congênitas: Brasil e Estados Unidos

    Directory of Open Access Journals (Sweden)

    Daniela Varela Luquetti

    2011-01-01

    Full Text Available The impacts of birth defects in the society have substantially increased over the last decades in countries where the reduction of infant mortality by other causes has occurred. Birth defects surveillance represents an important source of information for planning X health policies and resource allocation. In this article, we discuss the potential utilizations, methodology options, limitations, and policy issues related to birth defects surveillance. Also, the birth defects surveillance programs from US and Brazil are described and compared as an illustration of the development of surveillance systems in two countries with clearly dissimilar health systems and resource allocation for birth defects programs. Finally, we propose measures for the improvement of the existing systems in both countries focusing at the utilization of preexisting resources.O impacto das anomalias congênitas na sociedade vem aumentando substancialmente nas últimas décadas nos países onde ocorreu a diminuição da mortalidade infantil por outras causas. A vigilância epidemiológica em anomalias congênitas representa uma importante fonte de informação para o planejamento de políticas de saúde e alocação de recursos. Neste artigo, os potenciais usos, opções de metodologia, limitações e questões de políticas de saúde relacionadas à vigilância epidemiológica em anomalias congênitas são abordados. Além disso, os programas dos Estados Unidos e Brasil são descritos e comparados para ilustrar sistemas em dois países com sistemas de saúde e alocação de recursos para as anomalias congênitas claramente diferentes. Finalmente, apresentamos propostas de medidas para melhorar os sistemas existentes em ambos os países, focalizando na utilização de recursos pré-existentes.

  7. U.S. Centers for Disease Control and Prevention and Environmental Protection Agency Urge Commonwealth of Puerto Rico to Consider Aerial Spraying as Part of Integrated Mosquito Control to Reduce Zika-Associated Birth Defects

    Science.gov (United States)

    EPA News Release: U.S. Centers for Disease Control and Prevention and Environmental Protection Agency Urge Commonwealth of Puerto Rico to Consider Aerial Spraying as Part of Integrated Mosquito Control to Reduce Zika-Associated Birth Defects

  8. Defecting or not defecting: how to "read" human behavior during cooperative games by EEG measurements.

    Directory of Open Access Journals (Sweden)

    Fabrizio De Vico Fallani

    Full Text Available Understanding the neural mechanisms responsible for human social interactions is difficult, since the brain activities of two or more individuals have to be examined simultaneously and correlated with the observed social patterns. We introduce the concept of hyper-brain network, a connectivity pattern representing at once the information flow among the cortical regions of a single brain as well as the relations among the areas of two distinct brains. Graph analysis of hyper-brain networks constructed from the EEG scanning of 26 couples of individuals playing the Iterated Prisoner's Dilemma reveals the possibility to predict non-cooperative interactions during the decision-making phase. The hyper-brain networks of two-defector couples have significantly less inter-brain links and overall higher modularity--i.e., the tendency to form two separate subgraphs--than couples playing cooperative or tit-for-tat strategies. The decision to defect can be "read" in advance by evaluating the changes of connectivity pattern in the hyper-brain network.

  9. Defecting or not defecting: how to "read" human behavior during cooperative games by EEG measurements

    CERN Document Server

    Fallani, F De Vico; Sinatra, R; Astolfi, L; Cincotti, F; Mattia, D; Wilke, C; Doud, A; Latora, V; He, B; Babiloni, F; 10.1371/journal.pone.0014187

    2011-01-01

    Understanding the neural mechanisms responsible for human social interactions is difficult, since the brain activities of two or more individuals have to be examined simultaneously and correlated with the observed social patterns. We introduce the concept of hyper-brain network, a connectivity pattern representing at once the information flow among the cortical regions of a single brain as well as the relations among the areas of two distinct brains. Graph analysis of hyper-brain networks constructed from the EEG scanning of 26 couples of individuals playing the Iterated Prisoner's Dilemma reveals the possibility to predict non-cooperative interactions during the decision-making phase. The hyper-brain networks of two-defector couples have significantly less inter-brain links and overall higher modularity - i.e. the tendency to form two separate subgraphs - than couples playing cooperative or tit-for-tat strategies. The decision to defect can be "read" in advance by evaluating the changes of connectivity patte...

  10. Atenção aos defeitos congênitos no Brasil: panorama atual Birth defects and health strategies in Brazil: an overview

    Directory of Open Access Journals (Sweden)

    Dafne Dain Gandelman Horovitz

    2005-08-01

    Full Text Available O impacto dos defeitos congênitos no Brasil vem aumentando progressivamente, tendo passado da quinta para a segunda causa dos óbitos em menores de um ano entre 1980 e 2000, apontando para a necessidade de estratégias específicas na política de saúde. Foram localizadas, no Brasil, direcionadas aos defeitos congênitos, ações governamentais e não-governamentais. Estas envolvem serviços de informação sobre agentes teratogênicos na gravidez e sobre doenças metabólicas geneticamente determinadas, monitorização de defeitos congênitos, programa de triagem neonatal e tratamento de algumas doenças genéticas, imunização contra rubéola, além da fortificação de farinhas com ácido fólico como ação preventiva de certos defeitos congênitos. Apesar da importância de tais iniciativas, é pouco provável que seja possível atender à questão dos defeitos congênitos de forma integrada. Para a efetivação de um sistema de atenção voltado aos defeitos congênitos, deverá ser formulada política específica, de âmbito nacional, com a participação ativa do Ministério da Saúde, utilizando, como espinha dorsal, os serviços de genética existentes. Só assim, será possível a estruturação de uma rede regionalizada, hierarquizada e funcional voltada à atenção aos defeitos congênitos no Brasil.Birth defects have increased progressively in Brazil, shifting from the fifth to the second cause of infant mortality from 1980 to 2000, thus highlighting the need for specific health policy strategies. Some governmental and nongovernmental actions related to birth defects in Brazil include information services on teratogenic agents and inborn errors of metabolism, monitoring of birth defects, neonatal screening and treatment of some genetic diseases, and rubella immunization. In addition, flour fortification with folic acid for prevention of certain birth defects has begun recently. Despite the importance of such initiatives, it is

  11. The role of amniotic fluid in force transfer during human birth

    Science.gov (United States)

    Baumer, Alexa; Lehn, Andrea; Leftwich, Megan

    2013-11-01

    This study seeks to understand the fundamental fluid dynamic processes involved in human birth. We begin by examining the importance of amniotic fluid. This is done using two experimental techniques that approximate the laboring human uterus to different degrees of anatomical correctness. The first, in which a latex uterus is filled with fluid and a solid fetus is extracted, investigates the importance of both amniotic fluid properties and fetal position in the force required to remove a fetus. The second experiment simplifies the geometry of birth even more. In this case, a solid cylindrical rod is pulled through a highly flexible outer tube. The force to pull the inner cylinder as a function of the gap fluid properties is measured. By carefully controlling the fluid properties of the experiment, the study will provide further insight into the roles of amniotic fluid in human birth.

  12. 新疆多民族地区出生缺陷分析%Analysis of birth defects in Xinjiang multi-ethnic region

    Institute of Scientific and Technical Information of China (English)

    钱若筠; 刘红; 钟南; 王瑞; 邹红云; 何江; 余伍忠

    2011-01-01

    背景:新疆是一个多民族聚居的省区,地理位置不同,经济条件、气候环境等差异较大.目的:了解新疆不同民族出生缺陷发生发展趋势、病种及民族和地区差异.方法:根据新疆特殊的民族、地理条件及经济状况,按随机分层整群抽样方法,确定13个县(市)作为监测点,使用填报和.出生缺陷的诊断采用ICD10诊断标准.对2005-01/2008-12 4年间出生缺陷发生率进行统计,并分析出生缺陷的病种及其在各民族、地区的分布情况.结果与结论:新疆地区出生缺陷的平均发生率为97.43/万,4年间出生缺陷发生率表现为2006年较上一年度显著降低后,随之又逐年上升.出生缺陷发生率农村高于城市,男性多于女性,天山以南地区高于天山以北、以东及乌鲁木齐地区.在新疆的主要民族中,出生缺陷发生率以锡伯族和维吾尔族最高,满族和哈萨克族次之,汉族最低.4年间满族、蒙古族、回族出生缺陷发生率逐年下降,维吾尔族、汉族和哈萨克族有较小波动;但锡伯族却经历了一次大起大落的变化.出生缺陷病种前5位依次为神经管畸形、总唇裂、无脑畸形、先天性脑积水、唇裂合并腭裂.从分析结果可以看出新疆地区出生缺陷的发生存在民族和地理差异.%BACKGROUND: Xinjiang is a multi-ethnic region with significant differences in local geographical position, economic development and climatic environment. OBJECTIVE: To analyze the occurrence and development tendency of birth defects, disease categories and disparity among different ethnic groups and regions in Xinjiang.METHODS: A stratified cluster random sampling observation was performed in 13 counties (cities) according to the status of ethnical distribution and local economics of Xinjiang. Quarter Report Sheet on Babies and The defect babies register card were filled as the scheme of Chinese birth defect monitoring, and ICD10 diagnostic code was adopted in

  13. Clinical Analysis in 265 Perinatals Birth Defects%265例出生缺陷儿的临床分析

    Institute of Scientific and Technical Information of China (English)

    董红霞

    2012-01-01

      Objective To characterize the distribution patterns of birth defects in Huai-rou First Hospital 2006-2011. Methods Birth defects surveillance data in the period of January 2002 to December 2004 were analyzed. Results The overall prevalence rate of birth defects was 207.97/10,000 births. The first 5 common birth defects were hyperdactylism and ankylodactylia, accessory auricle,congenital heart disease,total cleft lip and palate,pigmented mole. chromosomal abnormalities,and neural tube defects. Conclusion To disease the prevalence rate of birth defects and elevate the disposition of the birth population, we should put the emphasis to preservation(the third-level prevention).%  目的 分析我院住院分娩围生儿的出生缺陷发生情况、变化趋势,为进一步预防出生缺陷的发生提供依据.方法 对2006至2011年在怀柔区第一医院住院分娩的围生儿出生缺陷监测资料进行分析.结果 6年共监测围生儿12742例,发现缺陷儿265例,平均出生缺陷发生率为207.97/万,前5位分别是多指(趾)及并指(趾)36例,副耳34例,先天性心脏病33例,唇裂合并腭裂23例,色素痣13例.结论 减少出生缺陷的工作重点在预防,应加强优生知识的宣传,提高产前检查质量及产前诊断技术,做好三级预防工作,以期降低围生儿出生缺陷的出生率,提高出生人口素质.

  14. Adipocyte lipases and defect of lipolysis in human obesity.

    Science.gov (United States)

    Langin, Dominique; Dicker, Andrea; Tavernier, Geneviève; Hoffstedt, Johan; Mairal, Aline; Rydén, Mikael; Arner, Erik; Sicard, Audrey; Jenkins, Christopher M; Viguerie, Nathalie; van Harmelen, Vanessa; Gross, Richard W; Holm, Cecilia; Arner, Peter

    2005-11-01

    The mobilization of fat stored in adipose tissue is mediated by hormone-sensitive lipase (HSL) and the recently characterized adipose triglyceride lipase (ATGL), yet their relative importance in lipolysis is unknown. We show that a novel potent inhibitor of HSL does not inhibit other lipases. The compound counteracted catecholamine-stimulated lipolysis in mouse adipocytes and had no effect on residual triglyceride hydrolysis and lipolysis in HSL-null mice. In human adipocytes, catecholamine- and natriuretic peptide-induced lipolysis were completely blunted by the HSL inhibitor. When fat cells were not stimulated, glycerol but not fatty acid release was inhibited. HSL and ATGL mRNA levels increased concomitantly during adipocyte differentiation. Abundance of the two transcripts in human adipose tissue was highly correlated in habitual dietary conditions and during a hypocaloric diet, suggesting common regulatory mechanisms for the two genes. Comparison of obese and nonobese subjects showed that obesity was associated with a decrease in catecholamine-induced lipolysis and HSL expression in mature fat cells and in differentiated preadipocytes. In conclusion, HSL is the major lipase for catecholamine- and natriuretic peptide-stimulated lipolysis, whereas ATGL mediates the hydrolysis of triglycerides during basal lipolysis. Decreased catecholamine-induced lipolysis and low HSL expression constitute a possibly primary defect in obesity.

  15. Dating the time of birth: a radiocarbon calibration curve for human eye lens crystallines

    DEFF Research Database (Denmark)

    Kjeldsen, Henrik; Heinemeier, Jan; Heegaard, Steffen

    2010-01-01

    Radiocarbon bomb-pulse dating has been used to measure the formation age of human eye-lens crystallines. Lens crystallines are special proteins in the eye-lens that consist of virtually inert tissue. The experimental data show that the radiocarbon ages to a large extent reflect the time of birth......, in accordance with expectations. Moreover, it has been possible to develop an age model for the formation of the eye-lens crystallines. From this model a radiocarbon calibration curve for lens crystallines has been calculated. As a consequence, the time of birth of humans can be determined with an accuracy...

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

    Science.gov (United States)

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

    2015-01-01

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

  17. Issues involved in the phenotypic classification of orofacial clefts ascertained through a state birth defects registry for the North Carolina Cleft Outcomes Study.

    Science.gov (United States)

    Aylsworth, Arthur S; Allori, Alexander C; Pimenta, Luiz A; Marcus, Jeffrey R; Harmsen, Katherine G; Watkins, Stephanie E; Ramsey, Barry L; Strauss, Ronald P; Meyer, Robert E

    2015-11-01

    Epidemiologic studies involving birth defects are extremely sensitive to phenotype accuracy and precision. We devised a case review and classification protocol for a project to study school achievement in children with idiopathic, nonsyndromic orofacial clefts to improve the reliability of phenotypic classification from the statewide birth defects registry. Surveillance-program abstraction data and medical records at the birth or treating hospitals were used when available. Exclusion criteria included: median cleft lip; Tessier cleft; premaxillary agenesis; presence of a recognizable syndrome, phenotype, association, or sequence (other than Robin sequence); clefts with other malformations not considered to be normal or common variants in the newborn; and cases with documented or suspected genetic or teratogenic causes. Of 712 children identified with orofacial clefts, 153 were excluded, leaving 559 nonsyndromic orofacial cleft cases of unknown cause in the final study. These cases were grouped into the following clinically meaningful types: cleft lip with or without cleft alveolus; cleft lip and cleft palate; and cleft palate only. This review and classification process resulted in the elimination of 21.5% of the original cohort of identified cases, with most exclusions being due to suspected syndromic associations. Verbatim descriptions of the clinical findings are critical for accurate classification of diagnoses. This review process improved the precision of orofacial cleft phenotype classification for our study. Precision would have been further improved if all of the cases had verbatim descriptions of diagnoses and all medical records could have been reviewed by the classification team. © 2015 Wiley Periodicals, Inc.

  18. Analysis of influencing factors of birth defect based on health education%基于健康教育的出生缺陷影响因素分析

    Institute of Scientific and Technical Information of China (English)

    刘月芬; 李佳樾

    2012-01-01

    Teratogenic factors are closely related with living environment and human production and life, but are ignored easily. Therefore, the key link of reducing birth defect is to highlight public awareness effectively. This article indicated potential high-risk teratogenic factors in people' s life from the point of view of physics and chemistry so as to strengthen the concept of mass prevention and treatment and improve the effectiveness of preventing birth defects.%致畸因子与生存环境息息相关,其与人类生产生活密不可分,但却易被忽视.因此,降低出生缺陷至关重要的环节是有效地提高防范意识.该文从物理、化学等角度指出人们生活中潜在的高危致畸因素,强化群防群治理念,提高防范出生缺陷的效力.

  19. 2010年常州市围产儿出生缺陷及城市功能区出生缺陷状况%Birth defects of perinatal infants in Changzhou city in 2010 and birth defects in different functional areas of the city

    Institute of Scientific and Technical Information of China (English)

    缪金剑; 周华; 蒋健

    2012-01-01

    Objective: To understand the birth defects in Changzhou city in 2010 and the birth defects in different functional areas of the city, explore the related factors of occurrence of birth defects in Changzhou city. Methods: The perinatal infants with birth defects who were bom in obstetric department of all the hospitals in Changzhou city in 2010 were collected, and the city was divided into central urban area, industrial area, and agricultural area according to the functions of the city, the birth defects of perinatal infants were compared among different functional areas. Results: There were 39 399 perinatal infants in 2010, the incidence of birth defects was 5.10‰, the incidence of birth defects and the top three birth defects were in accord with those from 2007 to 2009, the mean incidence of birth defects in Changzhou city was 5.10‰, and the incidences of birth defects in industrial area, central urban area, and agricultural area were 9.13‰, 4.60‰, and 3. 24‰, respectively, the incidence of birth defects in industrial area was significantly higher than the mean level in Changzhou city. Among the perinatal infants with birth defects, the indexes including floating population, gestational smoking or passive smoking, drinking during pregnancy, engaging in high risk works were higher than those of normal control group; the rate of medical examination before marriage and the regular examination rate during gestational period were lower than those in normal control group. Conclusion: Premarital check - up and pregestational health care should be enhanced, the management of reproductive health of the floating population should be improved, and the prenatal examination rate of birth defects should be strengthened, the measures above - mentioned can be conducted to reduce the incidence of birth defects.%目的:了解常州市2010年出生缺陷发生情况以及城市功能区出生缺陷状况,探讨常州市出生缺陷发生的相关因素.方法:收集2010

  20. 超声检查在出生缺陷预防中的应用%Ultrasonographic examination for prevention of fetal birth defect

    Institute of Scientific and Technical Information of China (English)

    Keong WONG

    2009-01-01

    During pregnancy, a unique and dramatic sequence of events occurs, defining the most remarkable transformation of a single cell into a recognizable human being. Uhrasonographic examination is play a important role for prevention of fetal birth defect. For some years, there have been dramatic advances in ultrasound technology, including improved spatial and contrast resolution, three-dimensionaland four-dimenstional imaging, harmonic imaging, new and improved ultrasound sanning probes, and improved digital review workstations, to name a few. Likewise, our knowledge of normal fetal anatomy and pathology, and the pathophysiology of disease have increased substantially. The internet has made communication among researcheres earier. There have been many collaborative studies and refinements of the guidelines for the performance of the obstetric ultrasound examination. But there are still some differences in the approach to the obstetric ultrasound examination from one group to the others. Some issues such as what constitutes a basic ultrasound examination, what structure should be perform and interpret the examination, how safe is ultrasound, how should it be recorded and documented, how should it be reported,and how accurate rate of diagnosis fetal congenital malformation. In conclusion is that, the appeal of the ultrasound examination is that it is a noninvasive, safe procedure that has a high degree of patient acceptance and can yield a wealth of information. It is always a delight to examine the obstetric patient and reassure her about her pregnancy, when appropriate. However, there are times when an abnormality is strongly suspected but it may be equivoal or may not fit into a specific category. Under these circumstances, the best pathway for the sonologist to is to do a follow-up examination and seek consultation. If time does not allow a follow-up examination, then the sonologist should communicate to the referring physician and the patient that a definiitve

  1. 奉贤区13266例围产儿出生缺陷分析%Analysis on 13 266 perinatal infants with birth defects in Fengxian district

    Institute of Scientific and Technical Information of China (English)

    顾维红

    2011-01-01

    目的:了解奉贤区出生缺陷发生情况、分布特征、影响因素,为降低出生缺陷发生制定干预措施提供依据.方法:采用回顾性方法对2008年1月1日~2009年12月31日奉贤区13 266例监测围产儿进行分析.结果:①奉贤区两年间出生缺陷儿188例,出生缺陷率为14.17%;②出生缺陷前5位分别是先天性心脏病、多指(趾)、总唇裂、血管瘤和神经管畸形;③出生缺陷发生在男女性别、户籍、出生时间方面差异无统计学意义,但与孕妇年龄有关(x2=7.517,P<0.05);④出生缺陷儿死亡与非出生缺陷儿死亡差异有统计学意义(x2=1 345.85,P<0.001);⑤产前诊断及治疗性终止妊娠可降低活产婴儿的出生缺陷发生率,并使出生缺陷顺位发生改变.结论:出生缺陷发生与孕妇年龄有关,与性别、受孕时间、户籍无关;出生缺陷儿死亡是围产儿死亡的主要原因;做好三级预防是降低出生缺陷发生,降低围产儿死亡率的重要措施.%Objective: To understand the occurrence, distribution characteristics and effect factors of birth defects in Fengxian distriet, provide a basis for making intervention measures to reduce the occurrence of birth defects. Methods: A retrospective method was adopted to analyze 13 266 perinatal infants in Fengxian district from January 1,2008 to December 31,2009. Results: From 2008 to 2009,188 perinatal infants with birth defects were born in Fengxian district, the incidence of birth defects was 14. 17‰; the first five birth defects were congenital heart disease, polydaetylism, total cleft lip, hemangioma and neural tube defect; there was no significant difference in incidences of birth defects between the perinatal infants with different genders, census registers and times of birth, but the incidences of birth defects were related to maternal age (x2 = 7. 517, P < 0. 05 ); there was significant difference in perinatal mortality between the perinatal infants with birth

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

    Science.gov (United States)

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

    2015-01-01

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

  3. 出生缺陷影响因素的病例对照研究%Case-control study on influence factors of birth defects

    Institute of Scientific and Technical Information of China (English)

    修新红; 袁丽; 王晓明; 陈玉华; 万爱华; 傅平

    2011-01-01

    Objective To investigate the influence factors of birth defects. Methods 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. Results (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

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

    Directory of Open Access Journals (Sweden)

    Flávia Romariz Ferreira

    2015-10-01

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

  5. Bisphenol A and congenital developmental defects in humans

    Energy Technology Data Exchange (ETDEWEB)

    Guida, Maurizio [Department of Medicine, University of Salerno (Italy); Troisi, Jacopo, E-mail: j.troisi@studenti.unisa.it [Department of Medicine, University of Salerno (Italy); Ciccone, Carla [“G. Moscati” Hospital Avellino (Italy); Granozio, Giovanni; Cosimato, Cosimo [Department of Medicine, University of Salerno (Italy); Sardo, Attilio Di Spiezio; Ferrara, Cinzia [Department of Medicine, “Federico II”, University of Naples (Italy); Guida, Marco [Department of Biology, “Federico II”, University of Naples (Italy); Nappi, Carmine [Department of Medicine, “Federico II”, University of Naples (Italy); Zullo, Fulvio [Department of Medicine, University of Salerno (Italy); Di Carlo, Costantino [Department of Medicine, “Federico II”, University of Naples (Italy)

    2015-04-15

    Highlights: • We show a correlation between environmental exposure to BPA and fetal malformations in humans. • We show that a reduced ability to metabolize the BPA in the mother can concur to the occurrence of malformations. • The average value of free BPA appears to be nearly three times greater in case of chromosomal malformations than the controls. - Abstract: Over 50% of the causes of fetal malformations in humans are still unknown. Recent evidence suggests the relationship between environmental exposure to endocrine disruptors and fetal malformations. Our study aims to establish the role of Bisphenol A (BPA), if any, in altering human reproduction. We enrolled 151 pregnant women who were divided into two groups: case group (CS, n = 101), women with established diagnosis of developmental defect, and control group (CL, n = 50), pregnant women with normally developed fetus. Total, free and conjugated BPA were measured in their blood using GC–MS with isotopic dilution. The results show a correlation between environmental exposure to BPA and the genesis of fetal malformations. Conjugated BPA, which was higher in the CL, casts light on the hypothesis that a reduced ability to metabolize the chemical in the mother can concur to the occurrence of malformation. In a more detailed manner, in case of chromosomal malformations, the average value of free BPA appears to be nearly three times greater than that of the controls. Similarly, in case of central and peripheral nervous system non-chromosomal malformations, the value of free BPA is nearly two times greater than that of the controls.

  6. Weak functional connectivity in the human fetal brain prior to preterm birth

    Science.gov (United States)

    Thomason, Moriah E.; Scheinost, Dustin; Manning, Janessa H.; Grove, Lauren E.; Hect, Jasmine; Marshall, Narcis; Hernandez-Andrade, Edgar; Berman, Susan; Pappas, Athina; Yeo, Lami; Hassan, Sonia S.; Constable, R. Todd; Ment, Laura R.; Romero, Roberto

    2017-01-01

    It has been suggested that neurological problems more frequent in those born preterm are expressed prior to birth, but owing to technical limitations, this has been difficult to test in humans. We applied novel fetal resting-state functional MRI to measure brain function in 32 human fetuses in utero and found that systems-level neural functional connectivity was diminished in fetuses that would subsequently be born preterm. Neural connectivity was reduced in a left-hemisphere pre-language region, and the degree to which connectivity of this left language region extended to right-hemisphere homologs was positively associated with the time elapsed between fMRI assessment and delivery. These results provide the first evidence that altered functional connectivity in the preterm brain is identifiable before birth. They suggest that neurodevelopmental disorders associated with preterm birth may result from neurological insults that begin in utero. PMID:28067865

  7. Weak functional connectivity in the human fetal brain prior to preterm birth.

    Science.gov (United States)

    Thomason, Moriah E; Scheinost, Dustin; Manning, Janessa H; Grove, Lauren E; Hect, Jasmine; Marshall, Narcis; Hernandez-Andrade, Edgar; Berman, Susan; Pappas, Athina; Yeo, Lami; Hassan, Sonia S; Constable, R Todd; Ment, Laura R; Romero, Roberto

    2017-01-09

    It has been suggested that neurological problems more frequent in those born preterm are expressed prior to birth, but owing to technical limitations, this has been difficult to test in humans. We applied novel fetal resting-state functional MRI to measure brain function in 32 human fetuses in utero and found that systems-level neural functional connectivity was diminished in fetuses that would subsequently be born preterm. Neural connectivity was reduced in a left-hemisphere pre-language region, and the degree to which connectivity of this left language region extended to right-hemisphere homologs was positively associated with the time elapsed between fMRI assessment and delivery. These results provide the first evidence that altered functional connectivity in the preterm brain is identifiable before birth. They suggest that neurodevelopmental disorders associated with preterm birth may result from neurological insults that begin in utero.

  8. Maternal KIR in combination with paternal HLA-C2 regulate human birth weight.

    Science.gov (United States)

    Hiby, Susan E; Apps, Richard; Chazara, Olympe; Farrell, Lydia E; Magnus, Per; Trogstad, Lill; Gjessing, Håkon K; Carrington, Mary; Moffett, Ashley

    2014-06-01

    Human birth weight is subject to stabilizing selection; babies born too small or too large are less likely to survive. Particular combinations of maternal/fetal immune system genes are associated with pregnancies where the babies are ≤ 5th birth weight centile, specifically an inhibitory maternal KIR AA genotype with a paternally derived fetal HLA-C2 ligand. We have now analyzed maternal KIR and fetal HLA-C combinations at the opposite end of the birth weight spectrum. Mother/baby pairs (n = 1316) were genotyped for maternal KIR as well as fetal and maternal HLA-C. Presence of a maternal-activating KIR2DS1 gene was associated with increased birth weight in linear or logistic regression analyses of all pregnancies >5th centile (p = 0.005, n = 1316). Effect of KIR2DS1 was most significant in pregnancies where its ligand, HLA-C2, was paternally but not maternally inherited by a fetus (p = 0.005, odds ratio = 2.65). Thus, maternal KIR are more frequently inhibitory with small babies but activating with big babies. At both extremes of birth weight, the KIR associations occur when their HLA-C2 ligand is paternally inherited by a fetus. We conclude that the two polymorphic immune gene systems, KIR and HLA-C, contribute to successful reproduction by maintaining birth weight between two extremes with a clear role for paternal HLA.

  9. Analysis of birth defects in Urumqi during 2011 to 2015%乌鲁木齐市2011年-2015年出生缺陷情况分析

    Institute of Scientific and Technical Information of China (English)

    李芳; 丁娟

    2016-01-01

    目的 研究乌鲁木齐市2011年~ 2015年出生缺陷的资料,探讨乌鲁木齐市主要出生缺陷类型、影响因素及变化规律,并提出干预措施.方法 对乌鲁木齐市2011年~ 2015年的出生缺陷资料进行分析,观察乌鲁木齐市出生缺陷的变化趋势.结果 2011-2015年5年间,乌鲁木齐市发生出生缺陷儿1422例,出生缺陷总发生率66.67/万,出生缺陷前5位依次为总唇裂、多指(趾)、神经管畸形、先天性脑积水、先天性心脏病.不同年份的出生缺陷顺位有所不同.结论 部分对于干预措施敏感的致死和严重致残出生缺陷发生率逐步下降,我市出生缺陷现有综合防治策略取得了明显的成效;出生缺陷防控工作重点的变化.为降低国产儿出生缺陷发生率,做好婚前医学检查、加强孕产妇孕前、孕期保健,增强出生缺陷防范意识,产检进行产前筛查和孕中期彩超排畸筛查,是降低围产儿出生缺陷发生率的有效措施.%Objective:Study data of birth defects,in Urumqi from 2013 ~ 2015,Discussion major types of birth defects in Urumqi,affecting factors and changes in laws and proposed interventions.Methods:Analysis of birth defects in Urumqi during 2011 to 2015,observing the change trend of birth defects in Urumqi.Results:2011-2015,five years,1422 cases of birth defects in Urumqi,the incidence of birth defects in total 66.67 / m,the top five birth defects of cleft lip,multi-finger (toe),and neural tube defects,congenital hydrocephalus and congenital heart disease.Different years of birth defects in the sequence is different.Conclusion:Part to the intervention sensitive to death or severe disability gradually decreased incidence of birth defects,birth defects existing obvious achievements have been made in the integrated control strategy;The change of birth defect prevention and control work key.In order to reduce the incidence of perinatal birth defects,completes the pre-marital medical

  10. Human birth and spiritual rebirth in the theological thought of John Chrysostom

    Directory of Open Access Journals (Sweden)

    Chris L. de Wet

    2017-01-01

    Full Text Available The purpose of this article is to investigate the dynamics between human birth and spiritual rebirth in the thought of John Chrysostom (349–407 CE and to position these dynamics in the broader scope that is salvation history.Utilising the aspects of the methodology of Van der Watt on the dynamics of metaphor in the New Testament, the article contextualised Chrysostom’s understanding of spiritual rebirth within the progressive and climactic unfolding of human reproduction between prelapsarian and postlapsarian states.In the first instance, the reproductive shift from divine creation to human reproduction after the Fall of Adam and Eve was discussed. Thereafter followed a discussion of how the miraculous births of men by barren women in the Old Testament such as Sarah and Isaac,functioned as a typological device pointing towards spiritual rebirth. After this an analysis of Chrysostom’s understanding of the virgin birth of Jesus by Mary was given, showing againthat this birth event was yet another typological device that directed the faith of the believer towards spiritual rebirth. Finally, Chrysostom’s teaching on the nature of spiritual rebirth is discussed in light of this broader typological development.The result was that the notion of spiritual rebirth in Chrysostom’s thought could not be understood separately from his views on human birth and the progression back to aprelapsarian state of generation.The relevance of the article is that it presents a focused study both on Chrysostom’s theology and his soteriology, in particular as well as his social thought with regards to sexual morality and issues related to reproduction and birth.

  11. 出生缺陷监测现状、疾病谱变化趋势与监测方法探讨%Birth defect monitoring status, disease spectrum change trend and methods of monitoring

    Institute of Scientific and Technical Information of China (English)

    张杏敏; 吴红宇; 胡南

    2011-01-01

    目的 以扬州市2005年-2010年的出生缺陷监测结果为基础,阐述我国出生缺陷监测现状,为进一步探讨我国出生缺陷监测方法、干预措施等提供有效的的数据支持,从而提高出生缺陷监测研究水平.方法 总结扬州市2005年-2010年出生缺陷诊断分类及其变化趋势,探讨出生缺陷监测方法和统计口径.结果 先天性心脏病、小于28w治疗性引产数、出生缺陷诊断无法归类而列为“其它”三者呈上升趋势.结论 只有全面了解出生缺陷监测现状,准确统计出生缺陷发生率及其分类,才能有针对性地制订干预措施,更加有效地预防和减少出生缺陷.%Objective: Taking Yangzhou 2005 - 2010 years of birth defects monitoring results as the basis, elaborated our country of birth defects monitoring status and provided effective data support for the further study of Chinese birth defects monitoring methods, as well as improving birth defects surveillance study level. Methods: To sum up 2005 - 2010 years of birth defects diagnosis classification and changing trend of birth defects of Yangzhou city. Explore monitoring method and -statistical standards. Results: Congenital heart diseases, the number of less than 28 weeks abortion treatment, birth defects diagnosis as "others" which could not be explicitly classified show ascendant trend. Conclusion; Only a comprehensive understanding of birth defects monitoring status, the accurate statistics of the incidence of birth defects and its classification, can be targeted to develop interventions that more effectively prevent and reduce the incidence of birth defects.

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

    Directory of Open Access Journals (Sweden)

    Li Xinhu

    2009-10-01

    Full Text Available Abstract 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 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.

  13. Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention.

    Science.gov (United States)

    Trainor, Paul A

    2010-12-01

    Of all the babies born with birth defects, approximately one-third display anomalies of the head and face [Gorlin et al., 1990] including cleft lip, cleft palate, small or absent facial and skull bones and improperly formed nose, eyes, ears, and teeth. Craniofacial disorders are a primary cause of infant mortality and have serious lifetime functional, esthetic, and social consequences that are devastating to both children and parents alike. Comprehensive surgery, dental care, psychological counseling, and rehabilitation can help ameliorate-specific problems but at great cost over many years which dramatically affects national health care budgets. For example, the Center for Disease Control and Prevention estimates that the lifetime cost of treating the children born each year with cleft lip and/or cleft palate alone to be US$697 million. Treating craniofacial malformations, of which in excess of 700 distinct syndromes have been described, through comprehensive, well-coordinated and integrated strategies can provide satisfactory management of individual conditions, however, the results are often variable and rarely fully corrective. Therefore, better techniques for tissue repair and regeneration need to be developed and therapeutic avenues of prevention need to be explored in order to eliminate the devastating consequences of head and facial birth defects. To do this requires a thorough understanding of the normal events that control craniofacial development during embryogenesis. This review therefore focuses on recent advances in our understanding of the basic etiology and pathogenesis of a rare craniofacial disorder known as Treacher Collins syndrome and emerging prospects for prevention that may have broad application to congenital craniofacial birth defects.

  14. Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994

    DEFF Research Database (Denmark)

    Jelenkovic, Aline; Hur, Yoon-Mi; Sund, Reijo

    2016-01-01

    Human height variation is determined by genetic and environmental factors, but it remains unclear whether their influences differ across birth-year cohorts. We conducted an individual-based pooled analysis of 40 twin cohorts including 143,390 complete twin pairs born 1886–1994. Although genetic v...

  15. Knowledge and use of folic acid for birth defect prevention among women of childbearing age in Shanghai, China: A prospective cross-sectional study

    OpenAIRE

    Liang, Huan; Ma, Duan; Zhou, Shu-Feng; Li, Xiaotian

    2011-01-01

    Summary Background This study aimed to assess the knowledge, attitude, and practice of folic acid intake for prevention of birth defects in Chinese women of child-bearing age. Material/Methods In this prospective cross-sectional study, a total of 1,338 women aged 20?45 years were randomly selected for interview. Data on folic acid knowledge and information on folic acid intake in the subjects were collected. Age, education, contraception, and status of family planning were used as the indepen...

  16. Knowledge and use of folic acid for birth defect prevention among women of childbearing age in Shanghai, China: A prospective cross-sectional study

    OpenAIRE

    Liang, Huan; MA, DUAN; Zhou, Shu-Feng; Li, Xiaotian

    2011-01-01

    Summary Background This study aimed to assess the knowledge, attitude, and practice of folic acid intake for prevention of birth defects in Chinese women of child-bearing age. Material/Methods In this prospective cross-sectional study, a total of 1,338 women aged 20–45 years were randomly selected for interview. Data on folic acid knowledge and information on folic acid intake in the subjects were collected. Age, education, contraception, and status of family planning were used as the indepen...

  17. Analysis of the Monitoring Results of Birth Defect in Hospitals Between 2001 and 2010 in Changsha%长沙市2001~2010年医院出生缺陷监测结果分析

    Institute of Scientific and Technical Information of China (English)

    祖月娥; 朱琳; 周红女; 周燕飞; 李杏秀; 王卫东; 徐扬; 林蓓蓓

    2013-01-01

    [Objective]To analyze the monitoring results of birth defect in hospital between 2001 and 2010 in Changsha in order to provide the basis for formulating the policy to reduce the birth defect rate of hospitals by health administrative department .[Methods] The statistical data from 13 birth defect monitoring hospitals of Changsha were analyzed .All the 13 hospital were accorded with birth defect definition and diagnostic standard in Chinese birth defect monitoring program and Chinese birth defect monitoring manual .All birth defect children were examined and registered by the trained physicians .The classification and statistical analysis were taken .[Results] In the past 10 years ,there were 173527 perinatal children born in 13 birth defect surveillance hospitals . Among them ,3856 children were birth defects .The total incidence rate was 222 .16/10000 .The incidence rate of birth defect during 10 years was increased obviously .The top 5 birth defects were congenital heart disease ,outer ear and other malformations ,cleft lip complicated with cleft palate ,multi-finger(toe) and congenital hydroceph-alus .Except the constituent ratio of congenital heart disease was increased ,the constituent ratio of 4 other birth defects had the declining trend .[Conclusion] The strategical change of the prevention mode of birth defect should be implemented so as to reduce the birth defect .%[目的]通过分析长沙市2001~2010年医院出生缺陷监测结果数据,为上级医疗行政部门制定降低医院出生缺陷率的政策提供依据。[方法]参照长沙市13所出生缺陷监测医院的统计数据。13所医院均按照《中国出生缺陷监测方案》及《中国出生缺陷监测手册》中有关出生缺陷的定义特征和诊断标准,经专职医生临床体检和相关检查确诊并分类统计。[结果]10年中13所出生缺陷监测医院总出生围生儿为173527例,出生缺陷3856例,总发生率为222.16/万,10年间出生缺

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1982-01-01

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

  19. Neural Tube Defects

    Science.gov (United States)

    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 ...

  20. Rare birth defects associated with Morgagni hernia and segmental aplasia of uterine horn in bitch: Case reportDefeitos congênitos raros em cadela – relato de caso

    Directory of Open Access Journals (Sweden)

    Ricardo Santana de Lima

    2013-09-01

    Full Text Available Birth defects, deformities or abnormalities are terms used to describe developmental defects present at birth, most of which are rare in bitches. We report the case of a six-month old mongrel bitch corpse, which, when subjected to an anatomotopographic study revealed the presence of rare birth defects as Morgagni hernia and segmental aplasia of the right uterine horn with its attachment to the transverses muscle of abdominis. In association with HM, we observed the presence of dextrocardia and a defect of the abdominal wall supraumbilical characteristic of incompletely Pentalogy of Cantrell’s, syndrome so far described only in humans. In association with segmental aplasia of the uterine horn, we observed the ipsilateral presence of the renal hypoplasia and ureteral agenesis. The diagnosis of those abnormalities was based on anatomical findings and confirmed histologically. Despite the rarity and complexity of the abnormalities first described in bitches, the literature suggested that the prognosis may be favorable to the life of the animal. However, early diagnosis is essential to avoid the potential complications of those diseasesDefeitos congênitos, deformidades ou anormalidades são termos usados para descrever defeitos no desenvolvimento presentes ao nascimento. A maioria destes, como a aplasia segmentar uterina, é de ocorrência rara em cadelas. Relata-se o caso de um cadáver de cadela, sem raça definida, de seis meses de idade, que ao ser submetido ao estudo anatomotopográfico revelou a presença de aplasia segmentar uterina (ASU associada à hérnia de Morgagni (HM, agenesia ureteral (AU e hipoplasia renal direita (HR. Além destas anormalidades, foi observada a presença de dextrocardia e de um defeito da parede abdominal supraumbilical, que caracterizam a forma incompleta da pentalogia de Cantrell, só descrita em humanos. O diagnóstico destas anormalidades foi baseado nos achados anatômicos e confirmado histologicamente. A

  1. Fully Human and Fully Divine: The Birth of Christ and the Role of Mary

    OpenAIRE

    Ann Milliken Pederson; Gretchen Spars-McKee; Elisa Berndt; Morgan DePerno; Emily Wehde

    2015-01-01

    The task given to us for this article was to offer theological responses to, “Can modern biology interpret the mystery of the birth of Christ?” by Giuseppe Benagiano and Bruno Dallapiccola. We are female Protestant theologians and respond to the issues from this perspective. The Christian confession of the virgin birth of Jesus (stated within the Apostles and Nicene creeds) is a statement of faith that God became incarnate through the power of the Holy Spirit in the flesh of the human Jesus a...

  2. 广西高发出生缺陷发生的影响因素分析%Influencing factors of high-incidence birth defects in Guangxi

    Institute of Scientific and Technical Information of China (English)

    刘湘红; 曾萼; 丘小霞; 刘伟; 陈玉柱

    2015-01-01

    目的 探讨广西高发出生缺陷发生的影响因素,为制定出生缺陷的干预措施提供依据. 方法 采用成组病例对照的研究方法,对广西7个市3 175例出生缺陷围产儿(包括先天性心脏病、唇腭裂、先天性脑积水、神经管缺陷、尿道下裂等)和3 179例正常围产儿的父母进行问卷调查,并对可能影响高发出生缺陷发生的相关因素进行单因素及多因素logistic回归分析. 结果 多因素logistic回归分析结果显示:父亲年龄及吸烟程度、叶酸指数与高发出生缺陷相关(P<0.05). 高发出生缺陷发生的危险因素包括孕早期未接受过优生检测、母亲孕早期患病、母亲怀孕前患病、母亲孕早期用药、母亲怀孕前后接触过猫狗等宠物、母亲有特殊食品嗜好(P均<0.05). 结论 母亲孕早期未接受优生检测、孕前/早期患病、孕早期用药、怀孕前后有宠物接触史以及母亲有特殊食品嗜好是广西地区高发出生缺陷发生的危险因素,在广西可从孕前与孕期保健、生活环境因素等多方面进行出生缺陷干预.%Objective To explore the influencing factors of high-incidence birth defects in Guangxi so as to provide the basis for formulating the intervention measures of birth defects.Methods A group case-control study was conducted, in which a questionnaire survey was carried out among parents of 3 175 perinatal infant with birth defects(including congenital heart disease,cleft lip and cleft palate,congenital hydrocephalus,neural tube defects and hypospadias) and 3 179 normal perinatal infants from 7 cities in Guangxi. Univariate and multivariate logistic regression analysis were used to analyze the related influencing factors of high-incidence birth defects. Results Multivariate logistic regression analysis revealed that age,severity of smoking and folacin index of fathers correlated with high-incidence birth defects(P<0.05).The risk factors for the occurrence of high

  3. Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994

    DEFF Research Database (Denmark)

    Jelenkovic, Aline; Hur, Yoon-Mi; Sund, Reijo;

    2016-01-01

    Human height variation is determined by genetic and environmental factors, but it remains unclear whether their influences differ across birth-year cohorts. We conducted an individual-based pooled analysis of 40 twin cohorts including 143,390 complete twin pairs born 1886-1994. Although genetic...... variance showed a generally increasing trend across the birth-year cohorts, heritability estimates (0.69-0.84 in men and 0.53-0.78 in women) did not present any clear pattern of secular changes. Comparing geographic-cultural regions (Europe, North America and Australia, and East Asia), total height...... variance was greatest in North America and Australia and lowest in East Asia, but no clear pattern in the heritability estimates across the birth-year cohorts emerged. Our findings do not support the hypothesis that heritability of height is lower in populations with low living standards than in affluent...

  4. Avaliação das declarações de nascido vivo como fonte de informação sobre defeitos congênitos Evaluation of the birth certificates as source of information on birth defects

    Directory of Open Access Journals (Sweden)

    Ana Lívia Geremias

    2009-03-01

    Full Text Available OBJETIVO: Estimar a prevalência de defeitos congênitos (DC em uma coorte de nascidos vivos (NV vinculando-se os bancos de dados do Sistema de Informação de Mortalidade (SIM e do Sistema de Informação sobre Nascidos Vivos (SINASC. MÉTODOS: Estudo descritivo para avaliar as declarações de nascido vivo como fonte de informação sobre DC. A população de estudo é uma coorte de NV hospitalares do 1º semestre de 2006 de mães residentes e ocorridos no Município de São Paulo no período de 01/01/2006 a 30/06/2006, obtida por meio da vinculação dos bancos de dados das declarações de nascido vivo e óbitos neonatais provenientes da coorte. RESULTADOS: Os DC mais prevalentes segundo o SINASC foram: malformações congênitas (MC e deformidades do aparelho osteomuscular (44,7%, MC do sistema nervoso (10,0% e anomalias cromossômicas (8,6%. Após a vinculação, houve uma recuperação de 80,0% de indivíduos portadores de DC do aparelho circulatório, 73,3% de DC do aparelho respiratório e 62,5% de DC do aparelho digestivo. O SINASC fez 55,2% das notificações de DC e o SIM notificou 44,8%, mostrando-se importante para a recuperação de informações de DC. Segundo o SINASC, a taxa de prevalência de DC na coorte foi de 75,4%00 NV; com os dados vinculados com o SIM, essa taxa passou para 86,2%00 NV. CONCLUSÕES: A complementação de dados obtida pela vinculação SIM/SINASC fornece um perfil mais real da prevalência de DC do que aquele registrado pelo SINASC, que identifica os DC mais visíveis, enquanto o SIM identifica os mais letais, mostrando a importância do uso conjunto das duas fontes de dados.OBJECTIVE: To obtain the prevalence of birth defects in a live birth cohort, linking the live birth information system (SINASC and the mortality information system (SIM databases. METHODS: Descriptive study to assess linked databases of hospital live births (LB and neonatal deaths of resident mothers that occurred in the city of S

  5. Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects.

    Science.gov (United States)

    Yang, Xue-Yan; Zhou, Xiang-Yu; Wang, Qing Qing; Li, Hong; Chen, Ying; Lei, Yun-Ping; Ma, Xiao-Hang; Kong, Pan; Shi, Yan; Jin, Li; Zhang, Ting; Wang, Hong-Yan

    2013-08-01

    Neural tube defects (NTDs) are severe birth malformations that affect one in 1,000 live births. Recently, mutations in the planar cell polarity (PCP) pathway genes had been implicated in the pathogenesis of NTDs in both the mouse model and in human cohorts. Mouse models indicate that the homozygous disruption of Sec24b, which mediates the ER-to-Golgi transportation of the core PCP gene Vangl2 as a component of the COPII vesicle, will result in craniorachischisis. In this study, we found four rare missense heterozygous SEC24B mutations (p.Phe227Ser, p.Phe682Leu, p.Arg1248Gln, and p.Ala1251Gly) in NTDs cases that were absent in all controls. Among them, p.Phe227Ser and p.Phe682Leu affected its protein stability and physical interaction with VANGL2. Three variants (p.Phe227Ser, p.Arg1248Gln, and p.Ala1251Gly) were demonstrated to affect VANGL2 subcellular localization in cultured cells. Further functional analysis in the zebrafish including overexpression and dosage-dependent rescue study suggested that these four mutations all displayed loss-of-function effects compared with wild-type SEC24B. Our study demonstrated that functional mutations in SEC24B might contribute to the etiology of a subset of human NTDs and further expanded our knowledge of the role of PCP pathway-related genes in the pathogenesis of human NTDs.

  6. Dynamics of human foveal development after premature birth.

    Science.gov (United States)

    Maldonado, Ramiro S; O'Connell, Rachelle V; Sarin, Neeru; Freedman, Sharon F; Wallace, David K; Cotten, C Michael; Winter, Katrina P; Stinnett, Sandra; Chiu, Stephanie J; Izatt, Joseph A; Farsiu, Sina; Toth, Cynthia A

    2011-12-01

    To determine the dynamic morphologic development of the human fovea in vivo using portable spectral domain-optical coherence tomography (SD-OCT). Prospective, observational case series. Thirty-one prematurely born neonates, 9 children, and 9 adults. Sixty-two neonates were enrolled in this study. After examination for retinopathy of prematurity (ROP), SD-OCT imaging was performed at the bedside in nonsedated infants aged 31 to 41 weeks postmenstrual age (PMA) (= gestational age in weeks + chronologic age) and at outpatient follow-up ophthalmic examinations. Thirty-one neonates met eligibility criteria. Nine children and nine adults without ocular pathology served as control groups. Semiautomatic retinal layer segmentation was performed. Central foveal thickness, foveal to parafoveal (FP) ratio (central foveal thickness divided by thickness 1000 μm from the foveal center), and 3-dimensional thickness maps were analyzed. In vivo determination of foveal morphology, layer segmentation, analysis of subcellular changes, and spatiotemporal layer shifting. In contrast with the adult fovea, several signs of immaturity were observed in the neonates: a shallow foveal pit, persistence of inner retinal layers (IRLs), and a thin photoreceptor layer (PRL) that was thinnest at the foveal center. Three-dimensional mapping showed displacement of retinal layers out of the foveal center as the fovea matured and the progressive formation of the inner/outer segment band in the opposite direction. The FP-IRL ratios decreased as IRL migrated before term and minimally after that, whereas FP-PRL ratios increased as PRL subcellular elements formed closer to term and into childhood. A surprising finding was the presence of cystoid macular edema in 58% of premature neonates that appeared to affect inner foveal maturation. This study provides the first view into the development of living cellular layers of the human retina and of subcellular specialization at the fovea in premature infant eyes

  7. Effects of folic acid awareness on knowledge and consumption for the prevention of birth defects among Hispanic women in several U.S. Communities.

    Science.gov (United States)

    Prue, Christine E; Hamner, Heather C; Flores, Alina L

    2010-04-01

    The neural tube defects (NTDs) anencephaly and spina bifida, are serious birth defects of the brain and spine that affect about 3000 pregnancies per year in the United States. Research has found a strong link between periconceptional folic acid consumption and NTD prevention. Because Hispanic women have higher rates of NTD-affected births, targeted folic acid promotion efforts were conducted in several major cities from 1999 to 2002. Efforts included paid and unpaid placements of Spanish language public service announcements (PSAs) and community-level education through the use of promotoras. Analyses focused on whether or not women's reported awareness of folic acid, regardless of promotion type, impacted their knowledge or behavior. Women who reported awareness of folic acid had greater folic acid knowledge and use of vitamins containing folic acid than those not aware. Analyses also examined the use of vitamins containing folic acid by pregnancy intention among women who reported awareness of folic acid. The results were varied. Pregnancy wanters were most likely to use vitamins containing folic acid daily. For this group, however, awareness did not play as large a role in whether they reported consuming a vitamin containing folic acid or not, as it did for pregnancy waiters and avoiders.

  8. 宁波市北仑区2007~2010年出生缺陷调查分析%Investigation and analysis of birth defection from 2007 to 2010 in Beilun district Ningbo city

    Institute of Scientific and Technical Information of China (English)

    胡波; 王健民; 吴庆国; 王娇珍; 乐福文; 吴怀

    2012-01-01

    Objective To provide basic statistics for prevention and intervention of birth defection in this area, through understanding basic condition of the happening of children birth defection and constitution of diseases. Methods Information on birth defection registration during 4 years in whole district was reviewed, and birth defection diseases were classified and relevant data were calculated and analyzed. Results A total of 9665 perinatals in the district were monitored, including 509 birth defection children; the rate of birth defection was 5. 27% from 2007 to 2010. Birth defection in the top three diseases were: congenital heart diseases, limb deformities, eye and ear deformities. Conclusion The situation of birth defection in Beilun district isnt optimistic, and the popularization of eugenic knowledge, surveillance and intervention of birth defection must be strengthened, which is one of the most important measures to take to improve population quality.%目的 分析宁波市北仑区儿童出生缺陷的发生及其病种构成的基本情况,为本地区出生缺陷预防干预提供基本数据.方法 回顾研究该区14家医院4年所有出生缺陷登记的资料,对出生缺陷病种进行归类,将相关数据进行统计整理.结果 2007年至2010年的4年间,该区共监测9 665例围生儿,其中有出生缺陷509例,出生缺陷率5.27%.出生缺陷居前三位的病种依次为:先天性心脏病,四肢畸形和眼耳畸形.结论 北仑区人口出生缺陷情况不容乐观,必须加强优生优育知识的普及,加强对出生缺陷的监测和干预,这是提高人口素质的重要环节之一.

  9. Analysis of risk factors of birth defects in Shaanxi Province%陕西省出生缺陷的相关危险因素分析

    Institute of Scientific and Technical Information of China (English)

    杨杨; 曾令霞; 颜虹

    2011-01-01

    Objective To explore the factors influencing birth defects in Shaanxi Province and then provide scientific evidence for intervention strategies. Methods Stratified random cluster sampling method was adopted.Totally 124 towns were sampled from 12 counties of 9 cities in Shaanxi Province. Household survey was carried out among 13 273 women who were residents and had conceived from October 2007 to July 2009, and all of these women had 28 weeks' gestational age. We collected 7 531 complete questionnaires finished for the progestational and pregnant period. Unconditional logistic regression was performed to analyze the risk factors by using SPSS13.0software. Results The results of logistic regression showed that the risk factors for birth defects were by turns the birth defects history of patrilineal family (OR = 14. 283), poor mental state (OR = 10. 835), abnormal pregnancy and reproductive history (OR = 8. 264), mothers living in rural areas ( OR = 5. 067), the history of alcohol intake in pregnancy (OR = 4. 598), mother's age higher than 35 years (OR = 3. 696), exposure to agricultural chemicals during pregnancy (OR=3. 507), drinking strong tea during pregnancy (OR = 1. 993), taking folic acid during pregnancy (OR=0. 549) and higher family income per capita (OR = 0. 422), which were the protective factors of birth defects. Conclusion We should strengthen publicity in scientific knowledge of pre-natal and post-natal care,increase self-care consciousness of women of childbearing age, improve their living environment and change the unhealthy lifestyle. These strategies play a very important role in reducing the prevalence rate of birth defects in Shaanxi Province.%目的 探讨陕西省出生缺陷发生的影响因素,为采取有针对性的干预措施提供依据.方法 应用分层随机整群抽样方法,抽取陕西省9市12个区县共124个乡镇.对终止妊娠日期发生在2007年10月至2009年7月间且孕满28周的13273名妇女进行入户调查.要求

  10. 2007~2008年鄂州市围产儿出生缺陷情况调查%Investigation on perinatal birth defects in ezhou city from 2007 to 2008

    Institute of Scientific and Technical Information of China (English)

    艾方红; 詹险峰

    2011-01-01

    目的 了解本地区围产儿出生缺陷的发生率、种类及构成,探讨出生缺陷影响因素和产前诊断的不足.方法 收集本院2007~2008分娩的产妇及围产儿资料,对之进行分析.结果 鄂州市2007~2008年围产儿出生缺陷发生率为8.26‰,出生缺陷类型主要有唇腭裂、多指、尿道下裂等.结论 加强孕前期一围孕期保健预防工作及围产期出生缺陷监测诊断工作,减少出生缺陷儿的发生.%Objective: To study the incidence and type of perinatal birth defect in Ezhou city and explore the related risk factors and the deficiency of prenatal diagnosis.Methods: Data of perinatal birth defects were from Ezhou central hospital from 2007 to 2008.Results: The incidence of birth defect in Ezhou city was 8.26‰.The common perinatal birth defects were listed as follows: cleft lip,fingers, and hypospadias, etc.Conclusion: Pregnancy prevention and prenatal diagnosis should be improved to reduce the incidence of birth defect.

  11. Ethical aspects of soft tissue engineering for congenital birth defects in children--what do experts in the field say?

    NARCIS (Netherlands)

    Oerlemans, A.J.M.; Rodrigues, C.H.; Verkerk, M.A.; Berg, P.P. van den; Dekkers, W.J.M.

    2010-01-01

    This article is part of the EuroSTEC project, which aims at developing tissue engineering-based treatments for structural disorders present at birth. EuroSTEC is positioned at the intersection of three areas with their own ethical issues: (1) regenerative medicine, (2) research with pregnant women a

  12. Ethical aspects of soft tissue engineering for congenital birth defects in children : what do experts in the field say?

    NARCIS (Netherlands)

    Oerlemans, A.J.; Rodrigues, Catarina; Verkerk, M.A.; van den Berg, P.P.; Dekkers, W.J.M.

    2010-01-01

    This article is part of the EuroSTEC project, which aims at developing tissue engineering-based treatments for structural disorders present at birth. EuroSTEC is positioned at the intersection of three areas with their own ethical issues: (1) regenerative medicine, (2) research with pregnant women a

  13. Conjoined Twins : A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and Research

    NARCIS (Netherlands)

    Mutchinick, Osvaldo M.; Luna-Munoz, Leonora; Amar, Emmanuelle; Bakker, Marian K.; Clementi, Maurizio; Cocchi, Guido; Dutra, Maria da Graca; Feldkamp, Marcia L.; Landau, Danielle; Leoncini, Emanuele; Li, Zhu; Lowry, Brian; Marengo, Lisa K.; Martinez-Frias, Maria-Luisa; Mastroiacovo, Pierpaolo; Metneki, Julia; Morgan, Margery; Pierini, Anna; Rissman, Anke; Ritvanen, Annukka; Scarano, Gioacchino; Siffel, Csaba; Szabova, Elena; Arteaga-Vazquez, Jazmin

    2011-01-01

    Conjoined twins (CT) are a very rare developmental accident of uncertain etiology. Prevalence has been previously estimated to be 1 in 50,000 to 1 in 100,000 births. The process by which monozygotic twins do not fully separate but form CT is not well understood. The purpose of the present study was

  14. Early differential defects of insulin secretion and action in 19-year-old caucasian men who had low birth weight

    DEFF Research Database (Denmark)

    Jensen, Christine B; Storgaard, Heidi; Dela, Flemming;

    2002-01-01

    Several studies have linked low birth weight (LBW) and type 2 diabetes. We investigated hepatic and peripheral insulin action including intracellular glucose metabolism in 40 19-year-old men (20 LBW, 20 matched control subjects), using the hyperinsulinemic-euglycemic clamp technique at two...

  15. Analysis of monitoring results of birth defects in Jingning county in 2009 and 2010%景宁县2009-2010年出生缺陷监测结果分析

    Institute of Scientific and Technical Information of China (English)

    王佩英

    2012-01-01

    Objective To analyze incidence of birth defects in Jingning county and relevant influential factors for the development and evaluation of preventive measures. Methods Birth defects monitoring data were obtained from 4 hospitals in 2009 and 2010 in Jingning county following guidelines of Birth defects monitoring program of Jingning county. The data were analyzed including the incidence of birth defects, defect type, occurrence of birth defects of mothers during pregnancy and all the cases were followed up. Results In two years, the total incidence rate of birth defects was 1.064%, in a total of 26 cases of birth defects, 23 were single defect and 3 were multiple defects. Defect types included five multiple fingers, congenital heart disease, cleft lip, cleft palate, encephalocele. Conclusions Birth defects show a trend of increase in this county. This is most likely due to improvement of technology in perinatal prenatal diagnosis and early postnatal diagnosis. Influential factors that may cause birth defects include maternal illness, unsafe medications during pregnancy and maternal genetic factor. These results indicate that it is necessary to enhance pre-pregnancy care, improve the quality of premarital medical examination, pay attention to genetic consulting and prenatal health care, especially in early pregnancy care. It is also necessary to carry out prenatal screening and improve knowledge on birth defects prevention so as to reduce the occurrence of birth defects.%目的 分析浙江省景宁县出生缺陷的发生状况和影响因素,为制定和评价预防措施提供依据.方法 对景宁县内4家医院依据《景宁县出生缺陷监测方案》要求上报的2009年和2010年出生缺陷监测数据进行汇总,分析出生缺陷的发生率、缺陷类型、发生出生缺陷儿母亲孕期情况,并跟踪随访.结果 共监测景宁县两年中2 443例围产儿,出生缺陷26例,总出生缺陷发生率为10.64‰,其中单发缺陷23

  16. Investigation and analysis of 0 ~14 years old children with birth defects in Three Gorges Reservoir Area%三峡库区0~14岁儿童出生缺陷调查与分析

    Institute of Scientific and Technical Information of China (English)

    马明福; 李川海; 杨皓; 付新云; 李家菊; 崔蓉; 张丹妍; 李安奇; 李练兵

    2013-01-01

    Objective:To understand Three Gorges Reservoir Area 7 counties 0 ~ 14 years old children's birth defects present situation,type,incidence,urban and rural children's birth defect occurrence,occurring at different positions of the situation,collect birth defects/genetic disease information data to prevent birth defects and provide the scientific basis.Methods:According to ICD-10 coding diseases listed design questionnaire,stratified cluster random sampling was used to the scene to carry out investigations on the 0 ~ 14 years old children suffering from birth defects.Results:There were 7 977 meals available questionnaire,including 24 types of birth defect with 158 people,and the incidence of birth defects was 19.81‰.The first 4 types of the study were cleft lip (73 cases,incidence 9.152‰) ; limb deformities (17 cases,incidence 2.137 ‰) ; hydrocephalus (14 cases,incidence 1.755‰) ; cardiac malformations (12 cases including 5 cases of boys and 7 cases of girls,incidence 1.504‰).There were 95 boys with the incidence of birth defects 22.37‰,63 girls with the incidence of birth defects 16.89 ‰.The boy's incidence of birth defects was obviously higher than that of girl (chi-square =204.44,P <0.005).There were 42 children with birth defects in 2 198 urban children (27.55%) and 116 children with birth defects in 5 779 rural children (72.45%).The urban children's birth defect rate was 19.11‰ and the countryside was 20.07‰.There was no statistical difference (chi-square =0.076,P =0.782) between them.Location was the first facial defects 86 cases (54.43%),the second for nerve defect 20 cases (12.66%),the third for limbs defect 17 cases (10.76%),the fourth for heart defects 12 cases (7.59%),the fifth for urogenital defect 6 patients (3.80%),other defects 17 cases (10.76%).There was significant difference (chi-square =34.11,P <0.01) between the first birth defects and other parts.Conclusion:Birth defects' monitoring area,monitoring time

  17. 黄山市2006~2010年出生缺陷调查结果分析%The analysis of birth defects prevalence of Huangshan from 2006 to 2010

    Institute of Scientific and Technical Information of China (English)

    章世妹; 盛玮; 吉次秋; 胡红喜; 曾令芳; 冯建华; 汪丽霞

    2012-01-01

    Objective To investigate the epidemiological features of birth defects in Huangshan in order to determine the high - risk population and areas. Methods The birth defect condition was household surveyed among perinatal infants, including dead fetus stillbirths and therapeutic abortion ), and children aged 0 to 5 with their mothers underwent in - depth personal interviews and cluster sampling retrospective study on January f, 2006 to December 3f , 20f0 in 7 prefectures( counties ) covering f Of towns and 6 streets. The confirmation of the birth defects was based on clinical diagnosis. The categories were defined with National Birth Defect Monitoring Program. Results There were 981 birth defects diagnosed in 5 years. The incidence rate of birth defects was 158. 69 per 10000 infants. The incidence in male infants was 82. 82 per 10000 infants and 63. 57 per 10000 infants in female infants. The top birth defects were congenital heart disease, total cleft lip and palate, polydactyly, congenred hydrocephaly, urogenital abnormality and neural tube defects. Conclusion The current situation of birth defects among children aged 0 to 5 in Huangshan has been evaluated, which shows an upward trend year by year. The incidence is higher in country than that in city and higher in male infants than females, but the difference between them has no statistical significance. So the key point of the birth defect prevention should be put in country areas. The hygienic knowledge of pregnant woman should be enhanced, especially in the top 6 birth defects mentioned above. Additionally, we should explore the reason of the high incidence of birth defects in order to provide basis for further birth defect prevention.%目的 了解黄山市0~5岁儿童出生缺陷的发生率、种类及顺位,确定重点预防人群和区域.方法 采用个人访谈、整群回顾性调查的方法对黄山市三区四县101个乡镇和6个街道在2006年1月1日至2010年12月31日期间出生的围生

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

    Energy Technology Data Exchange (ETDEWEB)

    Sever, L.E.

    1982-01-01

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

  19. Lamin A-dependent nuclear defects in human aging.

    Science.gov (United States)

    Scaffidi, Paola; Misteli, Tom

    2006-05-19

    Mutations in the nuclear structural protein lamin A cause the premature aging syndrome Hutchinson-Gilford progeria (HGPS). Whether lamin A plays any role in normal aging is unknown. We show that the same molecular mechanism responsible for HGPS is active in healthy cells. Cell nuclei from old individuals acquire defects similar to those of HGPS patient cells, including changes in histone modifications and increased DNA damage. Age-related nuclear defects are caused by sporadic use, in healthy individuals, of the same cryptic splice site in lamin A whose constitutive activation causes HGPS. Inhibition of this splice site reverses the nuclear defects associated with aging. These observations implicate lamin A in physiological aging.

  20. CDC WONDER: Births

    Data.gov (United States)

    U.S. Department of Health & Human Services — The Births (Natality) online databases in CDC WONDER report birth rates, fertility rates and counts of live births occurring within the United States to U.S....

  1. CDC WONDER: Births

    Data.gov (United States)

    U.S. Department of Health & Human Services — The Births (Natality) online databases in CDC WONDER report birth rates, fertility rates and counts of live births occurring within the United States to U.S....

  2. Relationship between knowledge of birth defects and culture, economy%出生缺陷知识与文化和经济的关系

    Institute of Scientific and Technical Information of China (English)

    陈文英; 张玲; 张绍强

    2012-01-01

    目的:了解孕妇对预防出生缺陷的知识、态度、行为情况,为进一步完善婚前保健、孕前保健及围产期保健服务提出合理化建议,提高出生人口素质.方法:采用分层抽样和随机抽样的方法,抽取深圳市龙岗区三个街道的90例孕期妇女作为调查对象,利用自行设计的调查表,进行面对面问卷调查,了解孕期妇女出生缺陷的知信行(KAP)情况.结果:文化层次高的孕妇,夫妇双方婚前医学检查率明显高于文化水平低者,差异有统计学意义(x2=6.771 7,P<0.05);文化程度越高的孕妇对孕期保健、预防出生缺陷知识掌握得越多.对孕期“保持良好心情”的知晓率以月收入4000~7000元组最高(95.00%),月收入7 000元以上组的知晓率最低(61.54%);在孕期“注意少接触农药/油漆”及“注意少接触猫狗等”行为方面也有不同,家庭人均月收入越高的孕妇对上述行为的重视程度越高.结论:文化程度与家庭经济状况是孕期妇女掌握出生缺陷相关知识的影响因素.%Objective; To understand the knowledge, attitude and practice (KAP) of pregnant women to prevention of birth defects , put forward reasonable suggestions for further perfecting premarital health care, prenatal health care, and perinatal heath care services, improve the quality of birth population. Methods: Stratified random sampling method was used to select 90 pregnant women from three streets of Longgang district as respondents, a self - designed questionnaire was adopted to survey the respondents face - to - face, KAP conditions of the pregnant women to birth defects were understood. Results: The rate of premarital examination in couples with the pregnant women having high educational level was statistically significantly higher than that in couples with the pregnant women having low educational level (x2 = 6. 771 7, P <0. 05) ; the higher the educational level of pregnant women was, the higher the

  3. Analysis of peripregnancy health care effects on birth defects%围孕期保健对出生缺陷的影响分析

    Institute of Scientific and Technical Information of China (English)

    刘葵; 吕海荣

    2014-01-01

    目的:分析围孕期保健对围产儿出生缺陷的影响。方法:选取西安市第四医院2013年10月1日~2013年12月25日收治1716例产妇为研究对象,对其临床资料进行回顾分析。结果:围孕期叶酸的补充可以显著降低神经管畸形的发生风险,差异有统计学意义(P<0.05);围孕期营养状况及孕妇的家庭收入等因素为减少出生缺陷发生的保护性因素,差异有统计学意义(P<0.05);出生缺陷的危险因素分别为孕妇接触职业危险因素、孕期患慢性病、孕期感冒、孕早期出血流产症状、孕期接触宠物、孕前或孕期房屋新装修、被动吸烟、孕期服药及孕期精神紧张或过度焦虑,差异有统计学意义(P<0.05)。结论:通过加强围孕期保健,减少和控制孕期危险因素,可以预防和减少出生缺陷,提高人口出生质量。%Objective:To analyze the confining effect of health care during pregnancy on perinatal birth defects.Methods:Xi'an City Fourth Hospital from October 1, 2013 to December 25, 2013 a total of 1716 cases of pregnant women as the research object, this was a retrospective a-nalysis of the clinical data.Results:Periconceptional folic acid supplementation could significantly reduce the risk of neural tube malformation, the difference was statistically significant (P<0.05);perioperative nutritional status and maternal family income and other factors as the protec-tive factor for reducing the incidence of birth defects, there was statistically significant difference (P <0.05);risk factors of birth defects were pregnant women contact occupation risk factors during pregnancy, chronic disease, pregnancy, abortion of early pregnancy bleeding symptoms of colds, pet contacting during pregnancy, before or during pregnancy, passive smoking, the new housing decoration medication during pregnancy and maternal stress or excessive anxiety, the difference was statistically

  4. Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects

    Directory of Open Access Journals (Sweden)

    Brian C. Gibbs

    2016-03-01

    Full Text Available Planar cell polarity (PCP is controlled by a conserved pathway that regulates directional cell behavior. Here, we show that mutant mice harboring a newly described mutation termed Beetlejuice (Bj in Prickle1 (Pk1, a PCP component, exhibit developmental phenotypes involving cell polarity defects, including skeletal, cochlear and congenital cardiac anomalies. Bj mutants die neonatally with cardiac outflow tract (OFT malalignment. This is associated with OFT shortening due to loss of polarized cell orientation and failure of second heart field cell intercalation mediating OFT lengthening. OFT myocardialization was disrupted with cardiomyocytes failing to align with the direction of cell invasion into the outflow cushions. The expression of genes mediating Wnt signaling was altered. Also noted were shortened but widened bile ducts and disruption in canonical Wnt signaling. Using an in vitro wound closure assay, we showed Bj mutant fibroblasts cannot establish polarized cell morphology or engage in directional cell migration, and their actin cytoskeleton failed to align with the direction of wound closure. Unexpectedly, Pk1 mutants exhibited primary and motile cilia defects. Given Bj mutant phenotypes are reminiscent of ciliopathies, these findings suggest Pk1 may also regulate ciliogenesis. Together these findings show Pk1 plays an essential role in regulating cell polarity and directional cell migration during development.

  5. Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects.

    Science.gov (United States)

    Gibbs, Brian C; Damerla, Rama Rao; Vladar, Eszter K; Chatterjee, Bishwanath; Wan, Yong; Liu, Xiaoqin; Cui, Cheng; Gabriel, George C; Zahid, Maliha; Yagi, Hisato; Szabo-Rogers, Heather L; Suyama, Kaye L; Axelrod, Jeffrey D; Lo, Cecilia W

    2016-02-16

    Planar cell polarity (PCP) is controlled by a conserved pathway that regulates directional cell behavior. Here, we show that mutant mice harboring a newly described mutation termed Beetlejuice (Bj) in Prickle1 (Pk1), a PCP component, exhibit developmental phenotypes involving cell polarity defects, including skeletal, cochlear and congenital cardiac anomalies. Bj mutants die neonatally with cardiac outflow tract (OFT) malalignment. This is associated with OFT shortening due to loss of polarized cell orientation and failure of second heart field cell intercalation mediating OFT lengthening. OFT myocardialization was disrupted with cardiomyocytes failing to align with the direction of cell invasion into the outflow cushions. The expression of genes mediating Wnt signaling was altered. Also noted were shortened but widened bile ducts and disruption in canonical Wnt signaling. Using an in vitro wound closure assay, we showed Bj mutant fibroblasts cannot establish polarized cell morphology or engage in directional cell migration, and their actin cytoskeleton failed to align with the direction of wound closure. Unexpectedly, Pk1 mutants exhibited primary and motile cilia defects. Given Bj mutant phenotypes are reminiscent of ciliopathies, these findings suggest Pk1 may also regulate ciliogenesis. Together these findings show Pk1 plays an essential role in regulating cell polarity and directional cell migration during development.

  6. Evolutionary developmental pathology and anthropology: A new field linking development, comparative anatomy, human evolution, morphological variations and defects, and medicine.

    Science.gov (United States)

    Diogo, Rui; Smith, Christopher M; Ziermann, Janine M

    2015-11-01

    We introduce a new subfield of the recently created field of Evolutionary-Developmental-Anthropology (Evo-Devo-Anth): Evolutionary-Developmental-Pathology-and-Anthropology (Evo-Devo-P'Anth). This subfield combines experimental and developmental studies of nonhuman model organisms, biological anthropology, chordate comparative anatomy and evolution, and the study of normal and pathological human development. Instead of focusing on other organisms to try to better understand human development, evolution, anatomy, and pathology, it places humans as the central case study, i.e., as truly model organism themselves. We summarize the results of our recent Evo-Devo-P'Anth studies and discuss long-standing questions in each of the broader biological fields combined in this subfield, paying special attention to the links between: (1) Human anomalies and variations, nonpentadactyly, homeotic transformations, and "nearest neighbor" vs. "find and seek" muscle-skeleton associations in limb+facial muscles vs. other head muscles; (2) Developmental constraints, the notion of "phylotypic stage," internalism vs. externalism, and the "logic of monsters" vs. "lack of homeostasis" views about human birth defects; (3) Human evolution, reversions, atavisms, paedomorphosis, and peromorphosis; (4) Scala naturae, Haeckelian recapitulation, von Baer's laws, and parallelism between phylogeny and development, here formally defined as "Phylo-Devo parallelism"; and (5) Patau, Edwards, and Down syndrome (trisomies 13, 18, 21), atavisms, apoptosis, heart malformations, and medical implications.

  7. Fully Human and Fully Divine: The Birth of Christ and the Role of Mary

    Directory of Open Access Journals (Sweden)

    Ann Milliken Pederson

    2015-03-01

    Full Text Available The task given to us for this article was to offer theological responses to, “Can modern biology interpret the mystery of the birth of Christ?” by Giuseppe Benagiano and Bruno Dallapiccola. We are female Protestant theologians and respond to the issues from this perspective. The Christian confession of the virgin birth of Jesus (stated within the Apostles and Nicene creeds is a statement of faith that God became incarnate through the power of the Holy Spirit in the flesh of the human Jesus and, likewise, that God continues to become incarnate in our flesh and in the messy details of our lives. The mystery and miracle of the birth of Jesus has much more to do with the incarnation of God in human flesh and in God’s spirit at work in and with Mary, than to do with Mary’s gynecological or parthenogenical mechanisms. The language of mechanism and miracle, in the ways used by the authors, can reduce the mystery and power of the incarnation. Consequently, we would like to offer a theological interpretation of the birth of Jesus and the role of Mary that expresses the mystery and grace of God’s incarnation not only in human nature, but also in all of nature. Our world is God’s home. We cannot comprehend all the ramifications of what is happening in the sciences and technologies of reproduction and development. However, what we do know is that we cannot stop asking questions, seeking answers, and remaining open to being both critical of, and appreciative of, what the sciences are teaching us about being human and creatures of God.

  8. Western lowland gorilla (Gorilla gorilla gorilla) birth patterns and human presence in zoological settings.

    Science.gov (United States)

    Kurtycz, Laura M B; Ross, Stephen R

    2015-11-01

    There is some evidence to suggest that zoo visitors may have a disruptive impact on zoo-housed animals, especially primates. While some consider western lowland gorillas (Gorilla gorilla gorilla) to be particularly reactive to large crowds, the evidence of these effects is mixed, and is likely highly influenced by exhibit design, and group composition. While the majority of studies have focused on behavioral responses to human presence, there is the potential for physiological effects as well, including the possibility of affecting the timing of parturition. Such effects have been demonstrated in laboratory-housed callitrichids and chimpanzees, but unlike laboratory settings where human presence is lowest during the weekends, human presence might peak during weekends in public zoo settings. However, in a study of zoo-housed chimpanzees, there were no significant differences between the number of chimpanzee births that occurred on weekdays compared to weekends [Wagner and Ross, 2008], and we sought to test these questions with gorillas. We analyzed the timing of 336 live gorilla births and 48 stillbirths at 53 accredited North American zoos from 1985-2014, and similarly to chimpanzees, found no weekend or weekday effect on number of births (live births: G = 0.000, p = 1; stillbirths: G = 0.166, p < 0.684). These data add to our understanding of the potential influence of human presence on primate behavior and physiology, and add to evidence suggesting that the effects of zoo visitors on exhibited species may be less profound than previously assumed.

  9. Analysis of the Influencing Factors on 170 Cases of Birth Defects in a Hospital, Guizhou%贵州省某医院170例新生儿出生缺陷的影响因素分析

    Institute of Scientific and Technical Information of China (English)

    罗敏

    2012-01-01

    Objective: The paper aims of understanding the change of incidence of birth defects and its influencing factors, to provide the basis for birth defects prevention and intervention. Methods: Collected 170 cases of birth defects from the birth defects monitoring data in2003 - 2011 ,the chi-square test were used for analysis of the change of incidence of birth defects and its influencing factors. Results: The incidence of thebirth defects was 142.6 per million, the prenatal diagnosis rate is 17.65%, abnormal factors accounted for 41.12%; The first five rows of the birth defects are the Outer ear other deformities, multi-fingered, neural tube defects, clubfoot varus and limb shortening; Child born defective has a high incidence with mother below 20. Conclusion: Strengthening preconception care, prenatal care, prenatal screening and early pregnancy and pregnancy folic acid specification can be taken to prevent and reduce the incidence of birth defects.%目的:探讨新生儿出生缺陷的影响因素,为新生儿出生缺陷的预防和干预提供依据.方法:基于贵州省某医院2003 -2011年出生缺陷的监测数据,运用卡方检验分析170例新生儿出生缺陷的特征变化及其影响因素.结果:该院出生缺陷检出率为142.6/万,产前诊断率为17.65%,异常因素占41.12%;出生缺陷前5位分别为外耳其它畸形、多指、神经管缺陷、马蹄足内翻和肢体短缩;母亲年龄<20岁缺陷儿发生率较高.结论:加强孕前保健、孕期保健、产前筛查和孕前与孕早期叶酸规范服用,是当前预防和减少出生缺陷发生的主要工作.

  10. Homologous human milk supplement for very low birth weight preterm infant feeding

    Directory of Open Access Journals (Sweden)

    Thayana Regina de Souza Grance

    2015-03-01

    Full Text Available OBJECTIVE: To develop a homologous human milk supplement for very low-birth weight infant feeding, using an original and simplified methodology, to know the nutritional composition of human milk fortified with this supplement and to evaluate its suitability for feeding these infants. METHODS: For the production and analysis of human milk with the homologous additive, 25 human milk samples of 45mL underwent a lactose removal process, lyophilization and then were diluted in 50mL of human milk. Measurements of lactose, proteins, lipids, energy, sodium, potassium, calcium, phosphorus and osmolality were performed. RESULTS: The composition of the supplemented milk was: lactose 9.22±1.00g/dL; proteins 2.20±0.36g/dL; lipids 2.91±0.57g/dL; calories 71.93±8.69kcal/dL; osmolality 389.6±32.4mOsmol/kgH2O; sodium 2.04±0.45mEq/dL; potassium 1.42±0.15mEq/dL; calcium 43.44±2.98mg/dL; and phosphorus 23.69±1.24mg/dL. CONCLUSIONS: According to the nutritional contents analyzed, except for calcium and phosphorus, human milk with the proposed supplement can meet the nutritional needs of the very low-birth weight preterm infant.

  11. 深圳市298031例围产儿出生缺陷监测流行病学特征%Epidemiological characteristic of birth defect of 298031 perinatal in Shenzhen

    Institute of Scientific and Technical Information of China (English)

    丁蓉; 颜春荣; 龚林

    2012-01-01

    Objective: To study the cause and risk factors of birth defect and to reduce birth defect through institute health care and disease prevents measures. Methods: The birth defect was measured in all perinatal, including live birth, stillbirth, induced abortion and neonatal death, in all Shenzhen hospital from 2008 to 2009 according to Shenzhen uniform surveillance scheme. Results: Among 289 031 births, the incidence of birth defect was 16. 52‰ (4 924/298 031), live deformity was 13. 84‰ (4 125/298 031) . The incidence of birth defect was 69.42‰ (3 418/4 924) in floating population . The incidence of birth defect was 20. 34‰ in lower knowledge level puerpera and 20.41%p in puerpera age > 35 group, which was much higher than other age groups, the difference was significant (P < 0.025) . The rate of birth defect in mature puerperal was 71.45% (3518/4924) . The incidence of birth defect in congenital heart disease and body check was 9.95‰ (2 967/298 031), which took 60.25% (2 967/4 924) in all kind of defect Defect birth liability took 83. 77% (4 125/4 924 ) . Conclusion: The rate of un - unitary body check is higher. The prenatal detection should be strengthen. It is key for prevent birth defect to popularization pregnant hearth care knowledge, develop hearth care service, elect right age to pregnancy.%目的:研究深圳市出生缺陷的发生状况及相关危险因素,为减少出生缺陷制定预防保健措施提供依据.方法:按深圳市统一的监测方案,对2008~ 2009年深圳市所有医院孕20周-产后7天分娩的围产儿(包括活产、死胎、死产、引产及产后7天内死亡)进行出生缺陷监测.结果:289 031例围产儿中出生缺陷发生率为16.52%(4 924/298 031),活产畸形率为13.84‰ (4 125/298 031),缺陷发生在流动人口中的比例为69.42%(3 418/4 924).产母文化程度低、年龄>35岁组发病率分别为20.34‰、20.41‰,高于其他年龄组,经检验P<0.025,差异有统计学意义.

  12. Quantitative, high-resolution epigenetic profiling of CpG loci identifies associations with cord blood plasma homocysteine and birth weight in humans.

    Science.gov (United States)

    Fryer, Anthony A; Emes, Richard D; Ismail, Khaled M K; Haworth, Kim E; Mein, Charles; Carroll, William D; Farrell, William E

    2011-01-01

    Supplementation with folic acid during pregnancy is known to reduce the risk of neural tube defects and low birth weight. It is thought that folate and other one-carbon intermediates might secure these clinical effects via DNA methylation. We examined the effects of folate on the human methylome using quantitative interrogation of 27,578 CpG loci associated with 14,496 genes at single-nucleotide resolution across 12 fetal cord blood samples. Consistent with previous studies, the majority of CpG dinucleotides located within CpG islands exhibited hypo-methylation while those outside CpG islands showed mid-high methylation. However, for the first time in human samples, unbiased analysis of methylation across samples revealed a significant correlation of methylation patterns with plasma homocysteine, LINE-1 methylation and birth weight centile. Additionally, CpG methylation significantly correlated with either birth weight or LINE-1 methylation were predominantly located in CpG islands. These data indicate that levels of folate-associated intermediates in cord blood reflect their influence and consequences for the fetal epigenome and potentially on pregnancy outcome. In these cases, their influence might be exerted during late gestation or reflect those present during the peri-conceptual period.

  13. Related factors of birth defects%保定地区出生缺陷相关因素研究

    Institute of Scientific and Technical Information of China (English)

    余瑞欣; 侯雯莅; 王建

    2012-01-01

    Objective; To 80 261 cases of perinatal analysis of 889 cases of defective children, most of unknown causes, of which 183 cases had a number of reasons, through the analysis to understand the defects caused by a common cause of children. Methods; The case study method, one by one asked about the history. Results: A number of reasons, such as high fever, contact with a number of chemical raw materials, indiscriminate use of drugs during pregnancy, social factors are all caused by defects. Conclusion; The prevention of pregnancy cold, away from toxic substances, rational drug use and change the bad ideas in order to effectively prevent the occurrence of defects in children.%目的 通过80 261例围产儿分析,缺陷儿889例,大部分不明原因,其中183例有一些明确原因,通过对这些因素分析,了解引起缺陷儿的常见原因.方法 采用个案调查方法,逐一询问病史.结果 一些原因如高烧、接触一些化工原料、孕期乱用药物、社会因素等都是引起缺陷的原因.结论 预防孕期感冒、远离有毒物质、合理用药,改变不良观念从而有效预防缺陷儿的发生.

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

    Directory of Open Access Journals (Sweden)

    Fernando Antônio Ramos Guerra

    2008-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

    Lie, R.T.; Irgens, L.M.; Skjaerven, R.; Reitan, J.B.; Strand, P.; Strand, T. (Medical Birth Registry of Norway, University of Bergen (Norway))

    1992-08-15

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

  16. Meta-analysis on major risk factors of birth defects in China%国内出生缺陷危险因素的 Meta 分析

    Institute of Scientific and Technical Information of China (English)

    赵婵娟; 杜晓玲; 李巧(通讯作者)

    2013-01-01

      目的综合探讨国内出生缺陷发生的危险因素。方法利用 Meta 分析方法综合分析国内2000~2011年间发表的22篇关于出生缺陷发病危险因素的病例对照研究文献,累计病例5238例,对照10571例。结果多因素分析合并比值比(OR)及其95%可信区间(95%CI)分别为:先天畸形家族史3.81(2.48~5.86);孕期感冒发烧3.64(2.16~6.11);孕期病毒感染2.82(2.09~3.82);妊娠合并症3.3(2.59~4.21);孕早期用药4.79(3.14~7.31);孕期服用激素类药物5.39(3.20~9.08);孕期服用镇静止吐药5.22(3.45~7.92);孕期接触有害化学物质3.73(2.87~4.86)等。结论影响国内出生缺陷发生的主要危险因素为先天畸形家族史、孕期感冒发烧、孕期病毒感染、妊娠合并症、孕早期用药、孕期服用激素类药物等。%  Objective To explore the major risk factors of the incidence of birth defects in China. Methods The results of the risk factors of birth defects in 24 epidemiological studies from 2000 to 2011 were analyzed by meta-analysis method. The cumulative cases and controls were 5238 and 10571, respectively. Results The pooled odds ratio(OR) values and 95%CI of various-factor-analysis were as folows: family history of congenital defect was 3.81 (2.48 ~ 5.86); having a fever during pregnancy was 3.64(2.16 ~ 6.11);virus infection during pregnancy was 2.82(2.09 ~ 3.82); complications in pregnancy was 3.3(2.59 ~ 4.21); medicine use in early pregnancy was 4.79(3.14 ~ 7.31);hormone drugs use in early pregnancy was 5.39(3.20 ~ 9.08);sedative and antiemetic drugs use in early pregnancy was 5.22(3.45 ~ 7.92); exposure to damage chemicals in pregnancy was 3.73(2.87 ~ 4.86), et al. Conclusion The major factors influencing the incidence of birth defects in China were family history of congenital defect, had a fever during pregnancy, virus infection during pregnancy, complications in pregnancy

  17. Tobacco smoking and its consequences on reproductive health: the impact of a lifestyle choices including cigarette smoke exposure on fertility and birth defects.

    Science.gov (United States)

    Merritt, Travis; Mazela, Jan; Merritt, Allen

    2013-01-01

    There are several life style choices which may impact fertility and thus national birth rate. Epidemiological cohort studies indicates that modification of life style habits, among them nicotine consumption can influence reproductive health. Influence of tobacco smoking on reproductive health has to be analyzed within the context of the influence of body mass index, caffeine and alcohol consumption, exercise, maternal and paternal age, and stress. Approximately 27% Polish women and 23% Americans smoke cigarettes during their reproductive years. Cohort studies directly showed the relationship between nicotine consumption and decrease in fertility among smoking women. Besides there is evidence that smoking leads to higher rate of congenital heart defects, limbs abnormalities, central nervous malformations among infants born to smoking mothers. Finally, the relationship between smoking and decreased fertility should be of great concern since Polish fertility rate has dropped from 1989 till 2007 year from 2,1 to 1,27 respectively. Programs focused on improvement in national birth rate should focus also on decrease smoking rates among women.

  18. Monitoring results of perinatal birth defects in ChangJi region from 2005 to 2013%2005至2013年昌吉州围产儿出生缺陷监测分析

    Institute of Scientific and Technical Information of China (English)

    马晶; 陈永慧; 朱明福; 吐尔逊江·买买提明; 陈筱萍

    2015-01-01

    Objective To analyze the monitoring results of perinatal birth defects and explore interventions, so as to reduce the incidence of birth defects. Methods Retrospective analysis was conducted on the birth defects monitoring data of 99 150 cases from 2005 to 2013 in Changji region to analyze the incidence of birth defects in different year. Results During 2005-2013, the total incidence of perinatal birth defects was 73. 92/10 000, and it reached peak in 2010. Rising trend was found in 2005-2010, while decline trend was found in 2011 to 2013. The top five birth defects diseases accounted for 67. 37% of all defect types, and they were total cleft lip, more finger (toe), neural tube defects, congenital heart disease and equinus varus in turn. The incidence of birth defects was significantly different regarding nation, urban and rural area, gender, and maternal age (χ2 value was 37. 61, 61. 33, 51. 37 and 59. 46, respectively, all P<0. 05). Conclusion In ChangJi region the incidence of perinatal birth defects is relatively high from 2005 to 2013, which indicates that it is necessary to define the emphasis of prevention and conduct studies on etiology and population distribution of birth defects with high incidence so as to provide evidence for reducing birth defects.%目的:分析围产儿出生缺陷的监测结果,探讨出生缺陷干预措施,降低出生缺陷发生率。方法回顾性分析2005至2013年昌吉州辖区内13家医院99150例围产儿的出生缺陷监测资料,分析不同年份及不同出生缺陷发生的情况。结果2005至2013年昌吉州围产儿出生缺陷总发生率为73.92/万,2010年呈现高峰,2005至2010年成上升趋势,2011至2013年逐年下降。前五位出生缺陷病种占全部缺陷类型的67.37%,依次为总唇裂、多指(趾)、神经管缺陷、先天性心脏病、马蹄足内翻。出生缺陷的发生在民族、城乡、男女性别、孕妇年龄间均存在统计学差异(χ2值分别为37.61、61.33、51

  19. 上海市奉贤区2008-2010年出生缺陷监测%Monitoring analysis on birth defects in Fengxian District of Shanghai from 2008 to 2010

    Institute of Scientific and Technical Information of China (English)

    陈红; 王娟

    2015-01-01

    Objective To investigate the incidence , distribution and trend of birth defects in Fengxian District of Shanghai . [ Methods] The population-based surveillance data of birth defects from 28 gestational weeks to 42 days postpartum was retrospectively analyzed . [ Results] A total of 15 744 perineonates were monitored , in which 277 cases of birth defects were detected .From 2008 to 2010 , the rate of birth defect was 138.94 per 10 000,162.28 per 10 000 and 230.66 per 10 000, respectively, which indicated a rising trend of incidence .The main types of birth defects in turn were congenital heart disease , deformity of external ear , umbilical hernia , synpolydactyly , syndactyly , chilopalatognathus , hemangioma , hydrocephalus , and neural tube defect . [ Conclusion] The rise of birth defects in recent years should be taken seriously . The surveillance and the comprehensive prevention on birth defects should be strengthened .%[目的]了解上海市奉贤区出生缺陷发生情况、分布特征及变化趋势。[方法]采用回顾性分析2008—2010年奉贤区出生缺陷人群监测资料(孕28周至产后42 d)。[结果]监测围产儿总数15744例,缺陷数277例,出生缺陷率分别为138.94/万,162.28/万,230.66/万,3年发生率有上升趋势。主要缺陷种类顺位依次为先天性心脏病、外耳畸形、脐疝、多指(趾)、并指(趾)、唇腭裂、血管瘤、先天性脑积水、神经管缺陷。[结论]近年来出生缺陷率上升需得到重视,应继续加强监测工作,加强出生缺陷综合防控。

  20. Analysis of influencing factors leading to major birth defects in six counties of Shanxi province%山西省六县(市)主要出生缺陷影响因素分析

    Institute of Scientific and Technical Information of China (English)

    张红; 王芳芳; 郭兴萍; 安焕晓; 王钰; 白云

    2012-01-01

    To explore the influencing factors of major birth defects.The children of 0 -3 years and their mother from six different districts were surveyed from November 2009 to December 2009.The incidence rate was 134.27/10 000 (493/36 716)in 6 counties. And the first five birth defects were as follows:congenital heart disease,neural tube defects,cheilopalatognathus,polydactylia and hypophrenia.The risks and protective factors of the first 5 birth defects were different.Anamnesis of birth defects and defective children from relatives,multiple pregnancy & birth and intake of antipyretic analgesics during pregnancy were the common risk factor for the first 5 birth defects.The key points for the prevention of birth defects are to reinforce the pre-pregnancy guidance,the screening and evaluation of risk factors and disease prevention during pregnancy.%为了解山西省主要出生缺陷发生率及其影响因素,于2009年11至12月对山西省6个县(市)0~3岁婴幼儿及母亲进行横断面和回顾性调查.六县(市)出生缺陷发生率为134.27/万(493/36 716);前5位出生缺陷排序为先天性心脏病、神经管畸形、唇腭裂、多指(趾)并指(趾)、智力低下,每种出生缺陷的危险因素和保护因素各有不同,其中亲属缺陷儿史、既往缺陷儿史、孕产次多、孕期服解热镇痛药为其共同危险因素.开展孕前指导、危险因素筛查和评估,孕期预防疾病是预防出生缺陷的关键.

  1. 2000~2009年围产儿出生缺陷相关因素调查分析%SURVEY AND ANALYSIS ON THE RELEVANCE FACTORS OF BIRTH DEFECT OF PERINATAL INFANTS DURING 2000-2009

    Institute of Scientific and Technical Information of China (English)

    孟凡萍; 张新华

    2012-01-01

    [Objective] To acknowledge dynamic change on birth defect occurrence, to provide bases for making decision on drawing up and taking preventive measures. [Methods] According to the monitoring projects of birth defect in China, carried out the monitoring work. [Results) Occurrence rate of birth defect was U.90%o.Tne leading birth defects were neural tube defects, multi-fingers (toes), cleft lip with cleft palate, external ear malformation, other congenital malformation. [Conclusion J It should reinforce health education further, raise awareness of environmental protection and health care, pay attention to the period of gestation and parturition health care, genetic health, premarital health care, continuously improve the level of prenatal diagnosis to prevent and control the birth defects of the population.%[目的]了解出生缺陷发生的动态变化,为制定和采取预防措施提高决策依据.[方法]按照全国出生缺陷监测中心指定的监测方案进行规范地监测.[结果]出生缺陷发生率为11.90‰;出生缺陷前5位依次为神经管畸形、多指(趾)、唇裂合并腭裂、外耳畸形、其他先天畸形.[结论]进一步加强健康教育,提高环保意识和保健意识,做好孕产期保健、优生保健、婚前保健,不断提高产前诊断水平,防止和控制缺陷人口的出生.

  2. Neanderthal brain size at birth provides insights into the evolution of human life history.

    Science.gov (United States)

    Ponce de León, Marcia S; Golovanova, Lubov; Doronichev, Vladimir; Romanova, Galina; Akazawa, Takeru; Kondo, Osamu; Ishida, Hajime; Zollikofer, Christoph P E

    2008-09-16

    From birth to adulthood, the human brain expands by a factor of 3.3, compared with 2.5 in chimpanzees [DeSilva J and Lesnik J (2006) Chimpanzee neonatal brain size: Implications for brain growth in Homo erectus. J Hum Evol 51: 207-212]. How the required extra amount of human brain growth is achieved and what its implications are for human life history and cognitive development are still a matter of debate. Likewise, because comparative fossil evidence is scarce, when and how the modern human pattern of brain growth arose during evolution is largely unknown. Virtual reconstructions of a Neanderthal neonate from Mezmaiskaya Cave (Russia) and of two Neanderthal infant skeletons from Dederiyeh Cave (Syria) now provide new comparative insights: Neanderthal brain size at birth was similar to that in recent Homo sapiens and most likely subject to similar obstetric constraints. Neanderthal brain growth rates during early infancy were higher, however. This pattern of growth resulted in larger adult brain sizes but not in earlier completion of brain growth. Because large brains growing at high rates require large, late-maturing, mothers [Leigh SR and Blomquist GE (2007) in Campbell CJ et al. Primates in perspective; pp 396-407], it is likely that Neanderthal life history was similarly slow, or even slower-paced, than in recent H. sapiens.

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

    Institute of Scientific and Technical Information of China (English)

    张颖; 丁辉

    2011-01-01

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

  4. Birth defects in Yantai Yuhuangding Hospital during 2006 -2010%2006年-2010年烟台毓璜顶医院围产儿出生缺陷分析

    Institute of Scientific and Technical Information of China (English)

    曲鑫; 刘志芬; 李蕾; 徐爱群; 柳红杰

    2012-01-01

    Objective: To explore the situation, influencing factors, diagnosis of the birth defects in our hospital, so as to provide evidences for periconceptional care. Methods; 301 birth defects in a total of 22211 births were monitored from 2006 to 2010, the birth defect rate was 13. 55% (301/22211). The top 5 common birth defects were Cadiovascular disease, total cleft in lip and palate , synpolydactyly, anephrogenesis or Polycystic kidney and Genital malformation. There was significant difference in birth defect rate between puerperal at city and countryside (x2 = 24. 34, P < 0. 01). There was no significant difference in birth defect rate between puerperal at different age, with different educational status, or different gender of fetus, But, the birth defect rate were higher in the age below 25 and exceed 35 groups than the other group, and the birth defect rate decrease when the educational status of puerperal increase. 48. 17% (145/301 ) cases were confirmed in prenatal diagnosis, and the main method was Ultrasonic Diagnosis. Conclusions: The key to reduce the birth defect rate is the primary prevention. We should improve the quality of antenatal examination and prenatal diagnosis technology, reduce birth defects, and improve the population quality of newborn.%目的 探讨我院围产儿出生缺陷发生状况、影响因素及确诊手段,为探索开展围孕期保健提供依据.方法 对2006年- 2010年5年间在我院住院分娩出生围产儿的监测资料进行回顾性分析.结果 2006年- 2010年我院共出生22211例围产儿,出生缺陷共301例,出生缺陷发生率为13.55‰(301/22211).出生缺陷率位居前五位的分别为先天性心血管疾病、唇腭裂、多指与并指(趾)、单肾缺如及多囊肾、生殖器畸形.产妇城乡间出生缺陷发生率比较差异有统计学意义(x2=24.34,P<0.01).不同年龄、文化程度及胎儿性别比较,差异无统计学意义,但年龄<25岁及≥35岁的产妇其出生缺陷率

  5. Analysis of birth defect in Zhongshan city from 2008 to 2010%中山地区2008年-2010年出生缺陷监测结果分析

    Institute of Scientific and Technical Information of China (English)

    王莹; 万波; 李莉敏; 胡朝霞; 彭学鸣; 曾冠

    2012-01-01

    目的 了解中山市出生缺陷的发生及分布情况,及时发现影响出生缺陷的可疑因素,协助指导制定相应的干预措施,做好今后出生缺陷监控工作提供科学依据.方法 对2008年-2010年中山市各医院分娩的孕满28周~产后7天内出生的所有围产儿(包括活产、死胎、死产)进行出生缺陷监测,并对其发生率、顺位及诊断依据进行分析.结果 三年内中山市出生缺陷发生率为260.05/万,排位前五位分别是先天性心脏病、多指(趾)、马蹄内翻足、地中海贫血、总唇腭裂.中山市户籍人口和农村、流动人口的顺位和发生率有明显差异.结论 加强流动人口孕产妇的孕期保健管理,普及孕期产前筛查意识,提高出生缺陷产前筛查和产前诊断的准确性,早期发现,早期诊断,早期干预,预防性用药等可减少出生缺陷的发生%Objective: To understand the prevalence of birth defects in Zhongshan, to detect the suspicious factors of influencing birth defects, to divide to provide scientific basis for making countermeasures to prevent and control birth defects. Method; Connecting the all perinatal birth defects data, including fetal deaths, stillbirths, live births, which detected during the second pregnancy over 28 weeks to postnatal day 7, analyzing the incidence rate, the sequence and the basis diagnosis on of birth defects. Results: The incidence of birth defect is 260. 05 per ten thousand in recent three years. The first five birth defect were: congenital heart disease, combined or excessive fingers or toes ( polydactyly) , clubfoot, a- Mediterranean-anaemia, cleft lip and palate. The sequence and the incidence rate of birth defect were significant difference, between Registered population and floating population. Registered population and population in rural areas. Conclusion; In order to depress perinatal birth defect rate, we should pay more attention in not only to the work of education of the

  6. 2001-2010年住院出生缺陷476例临床分析%Clinical analysis of birth defects in 476 cases of hospitalized children from 2001 to 2010.

    Institute of Scientific and Technical Information of China (English)

    祝轲; 任榕娜

    2011-01-01

    Objective To compile the prevalence and factors of birth defects on hospitalized children of Pediatrics in our hospital from 2001 to 2010 and provide some examples for reducing birth defects. Methods Data of birth defects of all hospitalized children from January 1, 2001 to December 31,2010 were reviewed. Types of birth defects and prenatal exposure to risk factors were retrospectively analyzed. Results The prevalence rate of birth defects on hospitalized children over the past 10 years was 16.41 per 1000.The risk factors influencing the incidence of birth defects were the age of parturient under 20 and over 35 , preterm birth (birth less than 37 weeks after conception) ,sick in early pregnancy .taking medicine in early pregnancy, spontaneous abortion, current family history of congenital defect, but the prevalence rates were no significance between urban and suburb and between male and female.Congenital heart diseases were the most common types of birth defects. Conclusion The surveillance and intervention program of birth defects and tertiary preventions shall be performed to decrease preference of birth defects on perinatal fetuses.%目的 统计住院患儿出生缺陷的发生情况及影响因素,为有效预防出生缺陷提供借鉴.方法 收集2001-01-01-2010-12-31南京军区福州总医院儿科住院患儿29015例中发生出生缺陷的病例资料,对患儿出生缺陷构成状况、孕妇多种相关暴露因素进行回顾性分析.结果 10年间南京军区福州总医院儿科住院患儿出生缺陷发生率为16.41‰(476/29015).近4年(2007-2010年)与前6年(2001-2006年)出生缺陷发生率相比(25.24‰对8.83‰),呈明显增高且呈逐年增加趋势,差异有统计学意义(x2=26.30,P<0.05).产妇年龄<20岁和> 35岁、早产(胎龄<37周)、孕早期患病、孕早期用药、有自然流产史、有家族史为出生缺陷发生的危险因素,而城乡、不同性别间出生缺陷发生

  7. Surveillance of birth defect in Xiangshan peninsula in Zhejiang province, 2005-2009%2005-2009年浙江省象山半岛地区出生缺陷监测

    Institute of Scientific and Technical Information of China (English)

    吴美飞

    2011-01-01

    Objective To further understand the incidence of birth defects in Xiangshan and facilitate the implementation of birth defect intervention project. Methods The analysis was conducted on the surveillance data off birth defect detected during pregnancy and 7 days after birth from 1 January 2005 to 31 December 2009 in Xiangshan. Results Totally 24 863 infants were born during this period, the incidence of birth defect was 147. 61/lakh; 170 dead fetuses were detected, 65. 88% of which were caused by fetus defect. The fetus defect detected before and after 28 weeks of gestation accounted for 11. 99% and 88. 01% respectively. The first 5 birth defects were congenital deformity in circulatory system, congenital deformity in musculoskeletal system, congenital deformity of eye, ear, face and neck, congenital deformity in nervous system as well as cleft lip and cleft palate. Conclusion The overall incidence of birth defect increased in Xiangshan during this period. The incidence of fetus defect in dead fetuses was significantly higher than birth defect in live fetuses. The proportion of fetus defect detected before 28 gestation weeks increased by years. It is essential to conduct tertiary prevention of birth defect.%目的 进一步了解象山县出生缺陷发生情况,以利于实施出生缺陷干预工程.方法 监测2005年1月1日至2009年12月31日所有产妇分娩的胎儿在孕期和产后7 d内发现的出生缺陷的相关情况,统一上报,并进行调查、分析.结果 2005-2009年共出生24 863名胎儿,出生缺陷发生率为147.61/万;发生死胎170例,其中缺陷儿死胎占65.88%;孕28周后发现的出生缺陷占88.01%,孕28周前发现的占11.99%;按系统分类排在前5位的分别为循环系统先天性畸形,肌肉骨骼系统先天性畸形和变形,眼、耳、面和颈部先天性畸形,神经系统先天性畸形,唇裂和腭裂.结论 5年出生缺陷发生率总体呈逐年上升趋势,死胎出生缺陷发生率

  8. Assessing the risk of birth defects associated with exposure to fixed-dose combined antituberculous agents during pregnancy in rats.

    Science.gov (United States)

    Awodele, O; Patrick, E B; Oluwatoyin Agbaje, Esther; Oremosu, A A; Gbotolorun, S C

    2012-01-01

    Due to the risks of disease progression and transmission to the newborn, treatment of tuberculosis is often pursued during pregnancy and fixed-dose combined antituberculous agents have been found to be beneficial. Unfortunately, there is paucity of data on the safety of the fixed-dose combined antituberculous drugs during pregnancy. This study intends to assess the teratogenic effect of fixed-dose combined antituberculous drugs on the organogenesis stage of fetal development and also investigate the possible roles of vitamin C in modulating the teratogenic effects of these agents on the fetus using animal model. Pregnant rats were divided into 3 groups with 12 animals per group: group 1 received distilled water (10 mL/kg) orally; group 2 received 51.4 mg/kg/day of fixed-dose combined antituberculous agents orally; group 3 received 51.4 mg/kg/day of fixed-dose combined antituberculous agents plus vitamin C (10 mg/kg/day) orally. Six rats in each group were randomly selected and sacrificed on day 20 by cervical dislocation prior to day 21 of gestation, and the foetuses were harvested through abdominal incision for physical examination. Blood samples were collected from the 1st filial rats of the remaining six animals for biochemical and hematological examination. The liver, kidney, heart, and brain of all the sacrificed animals were used for histopathological examination. There were significant (P ≤ 0.05) low birth weights of the foetuses of the animals that were treated with fixed-dose combined antituberculous agents. The haematological parameters also revealed a reduction in the platelets counts and neutrophiles at the first filial generation. Significant (P ≤ 0.05) elevations in the levels of aspartate aminotransferase (AST) and alkaline phosphatase (ALP) in the foetuses of the animals treated with fixed-dose combined antituberculous agents were also observed. However, the combination of vitamin C with fixed-dose combined antituberculous agents significantly

  9. Assessing the Risk of Birth Defects Associated with Exposure to Fixed-Dose Combined Antituberculous Agents during Pregnancy in Rats

    Directory of Open Access Journals (Sweden)

    O. Awodele

    2012-01-01

    Full Text Available Due to the risks of disease progression and transmission to the newborn, treatment of tuberculosis is often pursued during pregnancy and fixed-dose combined antituberculous agents have been found to be beneficial. Unfortunately, there is paucity of data on the safety of the fixed-dose combined antituberculous drugs during pregnancy. This study intends to assess the teratogenic effect of fixed-dose combined antituberculous drugs on the organogenesis stage of fetal development and also investigate the possible roles of vitamin C in modulating the teratogenic effects of these agents on the fetus using animal model. Pregnant rats were divided into 3 groups with 12 animals per group: group 1 received distilled water (10 mL/kg orally; group 2 received 51.4 mg/kg/day of fixed-dose combined antituberculous agents orally; group 3 received 51.4 mg/kg/day of fixed-dose combined antituberculous agents plus vitamin C (10 mg/kg/day orally. Six rats in each group were randomly selected and sacrificed on day 20 by cervical dislocation prior to day 21 of gestation, and the foetuses were harvested through abdominal incision for physical examination. Blood samples were collected from the 1st filial rats of the remaining six animals for biochemical and hematological examination. The liver, kidney, heart, and brain of all the sacrificed animals were used for histopathological examination. There were significant (≤0.05 low birth weights of the foetuses of the animals that were treated with fixed-dose combined antituberculous agents. The haematological parameters also revealed a reduction in the platelets counts and neutrophiles at the first filial generation. Significant (≤0.05 elevations in the levels of aspartate aminotransferase (AST and alkaline phosphatase (ALP in the foetuses of the animals treated with fixed-dose combined antituberculous agents were also observed. However, the combination of vitamin C with fixed-dose combined antituberculous agents

  10. 闽东地区出生缺陷发展趋势及影响因素研究%Trends and affecting factors of birth defects in Mindong district, Fujian

    Institute of Scientific and Technical Information of China (English)

    林小远; 宋玮婷; 李华; 张凤珍; 林涛; 陈锋萍

    2011-01-01

    Objective To evaluate 10 years trends of birth defects and explore potential affecting factors for the control of the diseases in future. Methods The 2001-2010 surveillance data of birth defects were collected from all hospitals in Ningde, Fujian. A special designed database was developed for the data collection. Statistical analysis was performed with SPSS software. Results Birth defect rate increased from 0. 55% to 1. 1% in 10 years (2001-2010). However, birth defects greater than 28 weeks pregnancy decreased in the same period of time. The most occurred birth defects were congenital heart diseases, cleft lip with and without cleft palate. Ear deformity increased gradually, while congenital hy-drocephalus decreased. In general, birth defects occurred more frequently in male babies than in female babies. Birth defects were associated with the age of mothers. High rates of birth defects were seen in the age groups of mothers between 20 and 25 years as well as over 35 years. Down syndrome and congenital heart diseases increased with the age of mothers. Conclusion Birth defect prevention and medical care in early pregnancy, prenatal screening and diagnosis are essential to decrease birth defects.%目的 为掌握闽东地区的出生缺陷发生的消长情况及影响出生缺陷的可疑因素,为制定干预措施提供依据,进行本研究.方法 按监测方案要求收集2001-2010年宁德市出生缺陷医院监测资料,按要求质量控制,统一统计标准录入SPSS软件建立数据库,进行统计分析.结果 2001-2010年宁德市总出生缺陷发生率呈现上升趋势,≥28周重大出生缺陷发生率呈现下降趋势;主要出生缺陷顺位变化:先天性心脏病升至第一位,总唇裂降至二、三位,外耳其他畸形排序渐升;总唇裂、小耳、先心、马蹄内翻足增高趋势,而先天性脑积水呈下降趋势;男性高于女性;孕母各年龄组之间差异显著,以20~岁组和35~岁组发生率为高;随年

  11. 2000~2010年围产儿出生缺陷监测与分析%Monitoring and analysis on birth defects of perinatal infants from 2000 to 2010

    Institute of Scientific and Technical Information of China (English)

    陈炳兰; 孙丽洲; 田静

    2013-01-01

    Objective: To understand the high risk factors of birth defects in the area by retrospectively analyzing growth and decline of birth defects in the hospital, timely find out suspicious malformation - inducing factors, and provide a basis for carrying out prevention, early diagnosis, and intervention of birth defects. Methods: According to the monitoring project of birth defect in China, the data of parturient women and perinatal infants born in the hospital from 2000 to 2010 were analyzed retrospectively. Results: From 2000 to 2010, a total of 27 838 perinatal infants were monitored, 311 perinatal infants were found with birth defects, the incidence rate was 11. 17%c. The main types of birth defects were polydactyly, congenital heart disease, cleft lip, multi - malformation, digestive tract malformation, hypospa-dias, and hydrocephalus; the incidence rate of birth defects in boys was statistically significantly higher than that in girls; the risk of birth defects among perinatal infants born by parturient women ≥ 35 years old increased significantly, especially among perinatal infants born by parturient women < 20 years old. Conclusion: Enhancing prenatal screening and prenatal diagnosis and raising prenatal detection rate of birth defects can reduce incidence rate of birth defects.%目的:通过回顾分析该院出生缺陷的消长情况,了解该地区出生缺陷的高危高发因素,及时发现可疑的致畸因素,为开展出生缺陷的预防、早期诊断和干预提供依据.方法:依照《中国出生缺陷监测方案》,对2000 ~ 2010年在该院分娩的产妇及其围产儿的资料进行统计分析.结果:11年间共监测围产儿27838例,缺陷儿311例,发生率为11.17‰;主要出生缺陷为指(趾)畸形、先天性心脏病、总唇裂、复合畸形、消化道畸形、尿道下裂、脑积水;男婴出生缺陷发生率较女婴显著增加;产母年龄≥35岁,尤其是产母年龄< 20岁时出生缺陷发生率的危险

  12. Risk factors of birth defects in China:a Meta analysis%我国出生缺陷影响因素的M eta分析

    Institute of Scientific and Technical Information of China (English)

    万素馨; 罗亚玲; 周天津

    2015-01-01

    Objective To explore the main risk factors related to birth defects to provide the scientific basis for making the best prevention policy and implementing the effective interventions .Methods Totally 21 domestic research articles on the risk fac‐tors of birth defects were comprehensively analyzed by the meta analysis method ,including accumulated 6 112 patients and 15 741 control cases .The articles were screened preliminarily according to inclusion and exclusion standard ,and then the fixed and random effects model were selected according to the homogeneity test .The merged results were performed the chi‐square test .Results The main merged results OR values of single‐factor‐analysis were as follows:the family history of birth defects 36 .22 ,early pregnant in‐fectious disease 5 .62 ,early pregnancy exposure to chemicals 4 .19 ,paternal smoking 3 .89 ,contact sedatives during pregnancy 3 .19 , pregnancy complication 2 .94 ,high protein food during pregnancy 0 .37 ;the main merged results OR values of multiple‐factor‐analy‐sis were as follows :early pregnancy infectious disease 7 .65 ,poor prenatal mental state 5 .44 ,early pregnancy fever 4 .70 ,early preg‐nancy exposure to toxic chemical 3 .90 ,history of abortion 3 .59 ,supplement of multivitamin during pregnancy 0 .45 .Conclusion The main risk factors of birth defects in our country are family history of birth defects ,early pregnancy infectious disease ,early pregnancy exposure to chemicals ,paternal smoking and pregnancy complication;the protective factors are eating more high protein food during pregnancy ,supplement of multivitamin during pregnancy and taking folic acid during pregnancy .%目的:探讨影响我国出生缺陷发生的主要危险因素,为制定最佳预防控制决策、实行有效的干预措施提供科学依据。方法利用M eta分析方法综合分析国内关于出生缺陷发病危险因素的研究文献21篇,累计病例6112例,对照15741例。据纳

  13. Ethical aspects of soft tissue engineering for congenital birth defects in children--what do experts in the field say?

    Science.gov (United States)

    Oerlemans, Anke J M; Rodrigues, Catarina H C M L; Verkerk, Marian A; van den Berg, Paul P; Dekkers, Wim J M

    2010-08-01

    This article is part of the EuroSTEC project, which aims at developing tissue engineering-based treatments for structural disorders present at birth. EuroSTEC is positioned at the intersection of three areas with their own ethical issues: (1) regenerative medicine, (2) research with pregnant women and fetuses, and (3) research with neonates. Because of the overlap of these three areas in this project, we can expect to be confronted with new ethical challenges. To be able to respond adequately and timely to current and possible future ethical issues, a prospective and anticipatory ethical analysis is essential. To obtain a first survey of ethical issues that might arise during the different phases of the project, the Delphi method was used. The professionals directly involved in the EuroSTEC project were questioned about their views on possible ethical issues. The first round yielded 27 ethical issues, which the respondents were asked to prioritize in the second round. For the fundamental research phase, issues deemed most important were privacy and informed consent of the tissue donor. For the animal experimentation phase, three issues were mentioned (in order of decreasing priority): the suffering of animals, the use of animals as means to an end, and the limited adequacy of the animal models. Issues that were deemed most important during the clinical (trial) phase pertained to the problem of weighing risks and benefits for the fetus/child and the pregnant woman.

  14. 早产对脑性瘫痪儿童乳牙釉质发育的影响%The developmental enamel defects in the primary dentition of cerebral palsied children with premature birth

    Institute of Scientific and Technical Information of China (English)

    林小波; 张笋; 吴卫红; 吴志文

    2011-01-01

    目的 研究早产因素对脑瘫儿童乳牙釉质发育缺陷的影响.方法 选择135名脑瘫患儿,与62名正常儿童对比,进行乳牙釉质发育缺陷状况的统计调查.同时比较脑瘫儿童中早产与乳牙釉质发育缺陷发生的关系.结果 脑瘫儿童组中早产儿童乳牙釉质发育缺陷的患病率明显高于足月组,有统计学差异(P<0.05).结论 早产的脑瘫儿童更容易发生乳牙釉质发育缺陷.%Objective To investigate the developmental enamel defects in the primary dentition of cerebral palsied children with premature birth. Methods One hundred and thirty-five children with cerebral palsy were examined for the clinical manifestation of the developmental enamel defects in the primary dentition. The relationship between the defects and cerebral palsied children's birth conditions were assessed. Results The prevalence of enamel defects in cerebral palsied children born premarurely was significantly higher than that in those with full term birth. Conclusion Enamel defects in the primary dentition are more likely to happen in cerebral palsied children with premature birth than those with full term birth.

  15. 龙岗区2004~2009年出生缺陷监测资料分析%Analysis on monitoring data of birth defects in Longgang district from 2004 to 2009

    Institute of Scientific and Technical Information of China (English)

    张绍强; 张玲; 邹丹玲; 陈文英; 夏洪波

    2012-01-01

    目的:了解近几年深圳市龙岗区围产儿出生缺陷发生率及变化趋势,为降低出生缺陷发生率、提高出生人口素质提供依据.方法:对2004~2009年出生缺陷监测资料进行回顾性分析.结果:2004~2009年龙岗区围产儿出生缺陷发生率为13.05‰,流动人口出生缺陷发生率高于常住人口;男性围产儿出生缺陷发生率为14.15‰,女性发生率为11.50‰,男性出生缺陷发生率比女性发生率高;常见出生缺陷类型为先天性心脏病、多指(趾)及总唇裂;出生缺陷中的死胎、死产导致死亡构成比呈下降趋势(x2=38.19,P <0.0001),新生儿存活构成比则呈上升趋势(x2=36.65,P<0.0001).结论:积极开展三级预防,采取综合干预措施,降低出生缺陷的发生率.%Objective: To understand the incidence and change trend of perinatal birth defects in Longgang district of Shenzhen cit-y in recent years, provide a basis for reducing the incidence of birth defects and improving the quality of birth population. Methods: The monitoring data of birth defects in Longgang district from 2004 to 2009 were analyzed retrospectively. Results; From 2004 to 2009, the incidence of birth defects in Longgang district was 13. 05%o, the prevalence of birth defects of floating population was higher than that of permanent resident population; the incidences of birth defects of male perinatal infants and female perinatal infants were 14. 15%o and 11. 50%e, respectively , the incidence of birth defects of male perinatal infants was higher than that of female perinatal infants; the common types of birth defects included congenital heart disease, polydactyly, cleft lip or/and cleft palate. The proportion of perinatal death induced by fetal death and stillbirth showed a decreasing trend (x2 =38. 19, P <0. 000 1 ) , the proportion of survival neonates showed a increasing trend (x2 = 36. 65, P <0. 000 1) . Conclusion; Carrying out tertiary prevention actively and adopting

  16. Investigation on birth defects of the newborn from 2006 to 2010 in Huangshan City, Anhui Province%2006~2010年安徽黄山市新生儿出生缺陷调查

    Institute of Scientific and Technical Information of China (English)

    杨怡; 章世妹; 胡红喜

    2013-01-01

    Objective To understand the birth defects of children aged 0—5 who were born during the 11th Five-Year Plan (from 2006 to 2010), and explore the risk factors of birth defects in the region. Methods The children aged 0~5 were screened in Huangshan City, and the children diagnosed with birth defects by screen or clinical examination were chosen as investigation objects, and the epidemiological factors were investigated and analyzed. Results A total of 61842 children were screened, and 981 of which were cases with birth defects, the incidence of birth defects was 158.63/ten thousand. The top 5 were congenital heart disease, limb malformations, total cleft lip and palate, cerebral atrophy and congenital hydrocephalus, respectively. The incidence of birth defects was significant different in maternal ages and birth regions. Conclusion The distribution characteristics of birth defects in this region indicates that the birth defects are closely related to the age of the pregnant women , the education conditions and the infection during pregnancy as well . The protection in the early pregnancy will play a significant role to prevent the birth defects.%目的 了解黄山市"十一五"期间(2006~2010 年)出生的0~5 岁新生儿出生缺陷的现况,探讨黄山地区人群出生缺陷的危险因素.方法 采用流行病学筛查方法,以黄山地区的0~5 岁儿童为筛查对象,对筛查出的具有明确诊断或经临床体检诊断出的出生缺陷儿作为调查对象,对人群出生缺陷流行因素进行调查分析.结果 共调查61842 人,筛查出生缺陷儿981 例,出生缺陷发生率为158.63/万.排在前5 位的是先天性心脏病、肢体畸形、总唇腭裂、脑萎缩和先天性脑积水.对比不同生育年龄产母、不同出生地区出生缺陷率,差异均有统计学意义.结论 本次结果 显示孕妇的年龄、文化程度、以及孕期感染等与新生儿出生缺陷有关.孕早期保护对于预防新生儿出生缺陷

  17. 0~1岁婴儿出生缺陷的流行病学调查%Epidemiological survey on 0-1 years old baby with birth defect

    Institute of Scientific and Technical Information of China (English)

    倪少义; 何洁壁; 陈少娜; 吴翔; 蔡幸生; 黄伟鹏; 王榕生; 洪艳苹; 倪少英; 卢晓航

    2012-01-01

    Objective To understand the incidence of birth defect in 0-1 years old baby in some regions of Jieyang, then to determine the focus groups for prevention. So that it can provide a foundation for birth defect prevention, pre-pregnancy and pregnancy care. Methods Those babies, who were born in Jiedong County, Puning City and Rongcheng District from March 3, 2011 to May 2, 2012 were surveyed by general investigation. Birth defect based on clinical diagnosis, its entity and statistical standard referred to the regulations of International Centre on Birth Defects and Prematurity. Results 238 cases of birth defect babies were found out of 10 773 cases of monitored new babies. The top five diseases of baby birth defects were congenital heart disease, talipes equinovarus, polydactyly, cleft lip and palate and fetal-edematous-syndrome. Some babies had higher incidence of birth defects, such as baby boy, low birth weight baby, and those babies whose mother did not take folic acid, vitamin and trace elements during pregnancy and whose family members smoking and excessive drinking (P < 0.05). Conclusion The incidence rate of birth defects in 0-1 years old baby is 220.92 per ten thousand in some regions of Jieyang City. It is slightly higher than the national average, so it needs attention from each side. Strengthening propaganda and education, screening and preventing birth defects are matters of great urgency.%目的 了解揭阳部分地区0~1岁婴儿出生缺陷的发病情况,确定预防的重点人群,为出生缺陷的预防和孕前、孕期保健提供依据.方法 采用普查的方式,对揭东县、普宁市、榕城区三地2011年3月3日~2012年5月2日出生的婴儿进行调查.出生缺陷以临床诊断为依据,病种及统计标准参照国际出生缺陷监测情报交换所的规定.结果 共监测10 773名婴儿,发现出生缺陷238例;婴儿出生缺陷排名前5位的疾病分别是先天性心脏病、马蹄内翻足、多指(趾)、唇(腭)裂

  18. Relationship of Birth Defects with Electromagnetic Radiation and Food Chain%出生缺陷与电磁辐射和食物链关系分析

    Institute of Scientific and Technical Information of China (English)

    苏花莉; 夏红卫; 韦红卫; 黄卫民; 孔琳; 黄琳

    2014-01-01

    Objective To investigate the relationship of birth defects with electromagnetic radiation and food chain.Methods One hundred and ninety-five mothers who had infants with birth defects were selected as study group ,and 195 mothers who had healthy infants were selected as control group .An investigation was conducted on the aspects of living environment ,the frequency of using mobile phone ,computer ,electromagnetic oven or microwave oven , and diet habit during pregnant period .The levels of estrogen ,gestagen and testosterone in maternal blood were detected after delivery .Results The mothers in the study group living near the electric transformer ,TV tower or communication transmission tower were more than those in the control group (all P<0.05),the frequencies of mothers′eating artificial feeding fowl,livestock or fish during pregnant period of study group were higher those of control group (all P<0.05). The frequencies of mothers′using mobile phone ,computer ,electromagnetic oven ,microwave oven or watching TV during pregnant period of study group were higher than those of control group (all P<0.05).Conclusion Electromagnetic radiation and eating artificial feeding fowl ,livestock and fish might have influence on birth defects .%目的:探讨出生缺陷与电磁辐射和食物链的关系。方法选择195例出生缺陷患儿母亲作为研究组,195例健康儿母亲为对照组,对两组孕期居住环境及使用手机、电脑、电磁炉、微波炉频率和饮食习惯等进行调查,并检测分娩时母血雌激素、孕酮、睾酮水平。结果研究组居住靠近变压器、电视塔、通讯转播塔比例高于对照组(P均<0.05),孕期食用人工饲料喂养的家禽、牲畜、鱼等的频率高于对照组(P均<0.05);研究组孕期使用手机、电脑、电磁炉、微波炉、观看电视的频率高于对照组( P均<0.05)。结论电磁辐射和食用人工饲料喂养的家禽、牲畜、鱼类

  19. Case-control study on influencing factors of perinatal birth defects%围产儿出生缺陷影响因素的病例对照研究

    Institute of Scientific and Technical Information of China (English)

    李媛媛; 张海鲲; 李忠良; 翟庆峰

    2011-01-01

    目的 探寻围产儿出生缺陷的影响因素,为出生缺陷干预提供科学依据.方法 按照1:1配对的原则选取出生缺陷围产儿和健康围产儿各807例,用单因素与多因素Logistic回归分析筛选出生缺陷的主要影响因素.结果 婚前参加体检,经常食用鱼虾肉蛋类、牛奶豆类食物等为出生缺陷的保护性因素;父母近亲结婚、家庭附近有污染、孕育期用药、孕育期接触有害物质、有生育畸形儿史、母亲吸烟饮酒为出生缺陷的危险因素.结论 出生缺陷干预可从控制环境有害因素、加强孕期营养保健、指导孕期合理用药、减少吸烟饮酒等不良行为生活方式、提倡婚前体检等方面综合入手.%Objective; To explore the influencing factors of perinatal birth defect. Methods; According to the birth date and sex matching principle, selected 807 perinatal birth defects infants and 807 normal infants. The influencing factors of perinatal birth defect were filtered with the Logistic regression analysis. Results: Regular intake of fish, shrimp, meat, eggs, milk, and beans during pregnancy , participating in pre-marital medical examination were the protective factors of birth defects. Consanguineous marriage, environment pollution sources near residence, suffering from chronic diseases before or during pregnancy, maternal exposure to occupational risk factors before or during pregnancy, abnormal reproductive history, and the habit of drinking and smoking were the risk factors of birth defects. Conclusion; To reduce infant birth defect incidence and improve national body diathesis, we must protect from environment risk factors, enhance pregnant nutrition, quit smoking and drinking, and advocate the premarital examination.

  20. 湖南省2009-2011年围产儿出生缺陷监测结果分析%Analysis on Monitoring Results of Perinatal Birth Defects in Hunan from 2009 to 2011

    Institute of Scientific and Technical Information of China (English)

    王爱华; 杜其云

    2013-01-01

    目的 分析围产儿出生缺陷监测结果,探讨出生缺陷干预措施,降低出生缺陷发生率. 方法 对2009-2011年围产儿出生缺陷医院监测资料用SPSS软件进行统计分析. 结果 监测293 053例围产儿中,出生缺陷发生数5 766例,出生缺陷发生率为196.76/万,3年出生缺陷率差异有统计学意义(P<0.05).前5位出生缺陷依次为:先天性心脏病、外耳其他畸形、多指(趾)、马蹄内翻足、唇裂合并腭裂.出生缺陷发生城市高于农村、孕母分娩无明显的季节分布、大于35岁组母亲出生缺陷发生率明显高于其他年龄组、男婴高于女婴. 结论 加强孕前、孕早期保健宣传,开展产前筛查、产前诊断和新生儿疾病筛查工作,避免和减少出生缺陷发生,提高出生人口素质.%Objective To analyze the monitoring results of perinatal birth defects and explore the interventions so as to reduce the incidence of birth defects. Methods SPSS software was used to analyze the monitoring data about birth defects among hospitals in Hunan from 2009 to 2011. Results A total of 293,053 perinatal infants were monitored. Birth defects occurred in 5,766 perinatal infants, and the incidence rate of birth defects was 196.76/10,000. There were statistically significant differences in the incidence rate of birth defects among the three years (P 35 years was significantly higher than those of other age groups. More male infants were involved than the female. Conclusions It is necessary to enhance health care propaganda before getting pregnant and during the early stages of pregnancy and popularize prenatal screening, prenatal diagnosis, and neonatal screening so as to avoid and reduce abnormal infants and improve the quality of births.

  1. Human myotubes from myoblast cultures undergoing senescence exhibit defects in glucose and lipid metabolism

    DEFF Research Database (Denmark)

    Nehlin, Jan O; Just, Marlene; Rustan, Arild C

    2011-01-01

    that the observed metabolic defects accompany the induction of a senescent state. The main function of SCs is regeneration and skeletal muscle-build up. Thus, the metabolic defects observed during aging of SC-derived myotubes could have a role in sarcopenia, the gradual age-related loss of muscle mass and strength.......Adult stem cells are known to have a finite replication potential. Muscle biopsy-derived human satellite cells (SCs) were grown at different passages and differentiated to human myotubes in culture to analyze the functional state of various carbohydrate and lipid metabolic pathways...

  2. Human sex ratio at birth and residential proximity to nuclear facilities in France.

    Science.gov (United States)

    Scherb, Hagen; Kusmierz, Ralf; Voigt, Kristina

    2016-04-01

    The possible detrimental genetic impact on humans living in the vicinity of nuclear facilities has been previously studied. We found evidence for an increase in the human secondary sex ratio (sex odds) within distances of up to 35km from nuclear facilities in Germany and Switzerland. Here, we extend our pilot investigations using new comprehensive data from France. The French data (1968-2011) account for 36,565 municipalities with 16,968,701 male and 16,145,925 female births. The overall sex ratio was 1.0510. Using linear and nonlinear logistic regression models with dummy variables coding for appropriately grouped municipalities, operation time periods, and corresponding spatiotemporal interactions, we consider the association between annual municipality-level birth sex ratios and minimum distances of municipalities from nuclear facilities. Within 35km from 28 nuclear sites in France, the sex ratio is increased relative to the rest of France with a sex odds ratio (SOR) of 1.0028, (95% CI: 1.0007, 1.0049). The detected association between municipalities' minimum distances from nuclear facilities and the sex ratio in France corroborates our findings for Germany and Switzerland.

  3. 孝感市2007~2011年围产儿出生缺陷流行病学调查%Study on perinatal birth defects from 2007 to 2011 in Xiaogan City

    Institute of Scientific and Technical Information of China (English)

    邱越; 陆敏; 杨树杰; 刘景丽; 付汉东; 彭红华; 李君; 罗红英; 余小艳

    2013-01-01

    OBJECTIVE To master the epidemiology of birth defect in Xiaogan City,analysis the dynamic trends and try to find out the main factors that may affect birth defects so as to develop effective preventive measures to improve the quality of newborn births.METHODS All the perinatal birth defects monitoring data of year 2007-2011 that in all the midwifery unit of Xiaogan were collected by child birth defects registration card and analyzed retrospectively.RESULTS Five-year birth defects incidence was 4.26‰ and the rates among the 5 years had no statistic difference (P> 0.05).The common birth defects in the top five were multi-finger polydactyly (0.61‰),external ear malformation (0.47‰),cleft lip with cleft palate (0.45‰),cleft lip (0.39‰) and congenital heart disease (0.32‰).Prenatal diagnosis rate was 21.08%,of which B-ultrasound diagnosis was 14.46%.Age of the maternal was a factor to birth defects that when the mother was older than 35 or younger than 20 the incidence of birth defects was obviously higher than other age group.Male birth defects rate were higher than females.The defects rate in countries was higher than that in towns.There was a positive relationship between the maternal education level or lower household income and rate of perinatal birth defects.CONCLUSION The main birth defects in Xiaogan of the last five years are the surface defects and the high risk factor of the birth defects are mother age,education level,economic level and place of residence.The rural areas are the focus to make prevention.So we should strengthen promotion of marriage and pregnancy health and improve prenatal diagnostic techniques so as to reduce the incidence of birth defects effectively.%目的 掌握孝感市围产儿出生缺陷的流行病学特征,分析主要出生缺陷的高危因素,制定有效的预防措施,提高出生人口的素质.方法 采用《出生缺陷儿登记卡》收集孝感市所有助产技术单位2007~2011年围产儿出生

  4. Analysis of birth defects monitoring data from 2009 to 2013 in Liuzhou City%柳州地区2009至2013年围产儿出生缺陷监测结果分析

    Institute of Scientific and Technical Information of China (English)

    刘静; 农铮; 邱萍; 覃海研; 关海滨; 刘成娟; 张玉; 林墨菊

    2014-01-01

    目的:了解柳州市出生缺陷发生的变化趋势及流行病学特征,为开展出生缺陷病因研究及制订出生缺陷综合干预措施提供参考依据。方法对2009~2013年柳州市范围内119家助产医院的围产儿出生缺陷监测资料进行统计分析。结果5年共监测围产儿239343例,发现出生缺陷儿4324例,出生缺陷总发生率为18.07‰,整体呈现上升趋势(χ2趋势=44.393,P<0.001)。出生缺陷发生率前5位顺位依次是先天性心脏病、多指/趾、外耳其他畸形、总唇裂、马蹄内翻足。缺陷发生率城镇(22.36‰)高于农村(14.94‰,(χ2=194.909,P<0.001);男性(20.34‰)高于女性(15.33‰)(χ2=84.584,P<0.001)。结论柳州市出生缺陷发生率处于较高水平,应有针对性的进一步加大出生缺陷的一、二级预防措施,加强优生优育宣传,提高孕前产前检查,以减少出生缺陷的发生与出生,提高人口素质。%Objective To analyze the variation and epidemiologic features of birth defects in Liuzhou City , so as to provide basis for analyzing etiology of birth defects and making interventional measures .Methods SPSS 13.0 software was used for statistical analysis of monitoring data of birth defects in 119 obstetric hospitals in Liuzhou city from 2009 to 2013.Results Totally 4 324 infants with birth defects were found among 239 343 perinatal infants, and the incidence was 18.07‰with an increasing trend ( χtrend2 =44.393, P<0.001).The top five in the sequence of birth defects was congenital heart disease , multiple fingers/toes, other outer ear deformities , total cleft lip and horseshoe varus foot.Incidence of birth defects in town (22.36‰) was higher than in countryside (14.94 ‰) (χ2 =194.909,P<0.001), and that of the male (20.34‰) was higher than the female (15.33‰) (χ2 =84.584,P<0.001).Conclusion The incidence of birth defects maintains

  5. 肇庆市2001-2010年围产儿出生缺陷监测资料分析%Data analysis of perinatal and infants with birth defects from 2001 to 2010 in Zhaoqing county

    Institute of Scientific and Technical Information of China (English)

    陈志玮; 刘楚芹; 梁云

    2012-01-01

    Objective To find out the incidence of birth defects and its variation in four hospitals of Zhaoqing, and to investigate the risk factors that causing birth defects, in order to provide references for formulating intervention measures. Methods According to the requirements of "Monitoring planning of birth defects in hospitals of Guangdong province", four hospitals in Zhaoqing were chosen for this investigation, and statistical analysis methods were used to analyze the birth defects data from 2001 to 2010 in Zhaoqing. Results 63 476 perinatal and infants were observed from 2001 to 2010, and 1 043 infants were found to have birth defects, and the incidence was 162.9 per ten thousand. There was an upward trend in general, and the incidence in 2010 was significantly higher than that in 2001 (χ2=21.635,P<0.001). The top three types of birth defects were congenital heart disease, fetal edema syndrome, and polydactyly malformation. Incidence of birth defect was associated with the sex, maternal age, and fetus number. Conclusion Birth defects have a great impact on the quality of the population, and the third class preventive measure should be continually strengthened to reduce the birth defects.%目的 了解肇庆市4家监测医院出生缺陷儿的发生率及其变化情况,研究出生缺陷发生的相关因素,为制定出生缺陷干预措施提供依据.方法 按照《广东省出生缺陷医院监测方案》的要求,以市内4家医院作为监测医院,对肇庆市2001-2010年的出生缺陷监测资料进行回顾性分析.结果 2001-2010年共监测围产儿63476名,其中出生缺陷儿1 034名,发生率为162.90/万,总体呈上升趋势,2010年的发生率比2001年高,差异有统计学意义(x2=21.635,P<0.001).前3位出生缺陷类型依次为先天性心脏病、胎儿水肿综合征、多指(趾)畸形.出生缺陷发生率与围产儿性别、孕母年龄、胎数有关.结论 出生缺陷严重影响出生人口的素质,应继续加强三

  6. 珠海市2011~2013年围产儿出生缺陷监测结果分析%Analysis on Monitoring Data of Birth Defects in Zhuhai City from 2011 to 2013

    Institute of Scientific and Technical Information of China (English)

    贝伟红; 戚小兵; 伍平; 黄斯娜; 于春荣; 郭胜男

    2014-01-01

    Objective To study the epidemic trends and distribution characteristics of birth defects in Zhuhai city from 2011 to 2013 ,and analyze the main relevant factors ,which could provide basic information for making prevention measures to reduce the incidence of birth defects.Methods The data of perinatal birth defects from all monitoring institutions in Zhuhai city from 2011 to 2013 were analyzed retrospectively.Results The incidence of birth defects was 16.23‰ in Zhuhai city from 2011 to 2013 with an increasing trend. The top five types of birth defects were heart disease ,polydactyly ,syndactylia ,talipes equinova‐rus ,and cleft lip with cleft palate. The prevalence rate of birth defects was significantly higher in urban and among boys(both P<0.01).The incidence of birth defects was relatively high for puerperas over 35 years(22.81‰)and those younger than 20 years old(17.21‰). The proportion of the live birth defects and the prenatal diagnosis was 83.88% and 18.76% ,respective‐ly.Clinical diagnosis and ultrasound were the main diagnostic methods.Conclusion A well‐planned monitor system ,tertiary prevention strategy and comprehensive interventional measures are sensible ways to lower the incidence of birth defects.%目的:了解珠海市2011~2013年围产儿出生缺陷的流行趋势及分布特点,并对出生缺陷的主要相关因素进行分析,为制订出生缺陷的预防措施提供依据。方法对珠海市2011~2013年所有监测机构的围产儿出生缺陷资料进行回顾性分析。结果珠海市2011~2013年间围产儿出生缺陷发生率为16.23‰,有逐年上升趋势( P<0.01);前5位出生缺陷类型依次为先天性心脏病、多指(趾)、并指(趾)、马蹄内翻足、唇裂合并腭裂;男性围产儿的出生缺陷发生率高于女性围产儿的发生率(P<0.01);城镇人口的出生缺陷发生率明显高于乡村(P<0.01)。产妇年龄大于35岁和小于20岁年龄组

  7. 重庆市涪陵区311例围生儿出生缺陷分析%Birth defects analysis of 311 perinatal infants at Fuling district in Chongqing

    Institute of Scientific and Technical Information of China (English)

    刘明会; 薛莹; 李红

    2015-01-01

    Objective To investigate the current status and change tendency of birth defects in the region to provide ref-erence for formulating reasonable prevention measures against birth defect. Methods A total of 311 monitoring data of birth de-fect from the hospitals including Fuling Central Hospital ,Puling Women and Children Health Care Hospital and Puling People′s Hospital from October 1,2010 to September 30,2013 at Fuling district in Chongqing were analyzed retrospectively,understanding the occurrence of birth defect,defect rate change trend as well as the related factors and birth defects (defects gender,age,residence and education level of lying-in women,etc.). Results Birth defect rate from the three monitoring organs of this region was de-creased annually. The occurrence of birth defects in 2013,accoutning for 1.846%(120/6 501),was significantly lower than that 2.046%(88/4 301) in 2011,whose difference had statistically significance(P0.05). The incidence of birth defect of the women aged less than 20 years old or over 35 years old were both higher than that of the women aged 20-35 years old. The lying-in women graduated from junior middle school or below had a higher occurrence in birth defect,and the difference had statistical significance(P<0.05). The prenatal diagnosis of birth defects,with the diagnostic rate of 21.54%(63/311) only,gave priority of ultrasonic diagnosis and chromo-some examination . Conclusion Paying attention to the occurrence of relevant factors of birth defect and improving the prenatal diagnosis of birth defects rate may effectively reduce the incidence of birth defect.%目的:探讨重庆市涪陵区出生缺陷儿的现状和变化趋势,为制订适合当地出生缺陷防治措施提供参考。方法选取该地区涪陵中心医院、涪陵区妇幼保健院、涪陵区人民医院3家监测机构2010年10月1日至2013年9月30日分娩的311例出生缺陷儿监测资料进行回顾性分析,了解出生缺陷发生率的

  8. Premature birth is associated with not fully differentiated contractile smooth muscle cells in human umbilical artery.

    Science.gov (United States)

    Roffino, S; Lamy, E; Foucault-Bertaud, A; Risso, F; Reboul, R; Tellier, E; Chareyre, C; Dignat-George, F; Simeoni, U; Charpiot, P

    2012-06-01

    Smooth muscle cells (SMCs) participate to the regulation of peripheral arterial resistance and blood pressure. To assume their function, SMCs differentiate throughout the normal vascular development from a synthetic phenotype towards a fully differentiated contractile phenotype by acquiring a repertoire of proteins involved in contraction. In human fetal muscular arteries and umbilical arteries (UAs), no data are available regarding the differentiation of SMCs during the last trimester of gestation. The objective of this study was to characterize the phenotype of SMCs during this gestation period in human UAs. We investigated the phenotype of SMCs in human UAs from very preterm (28-31 weeks of gestation), late preterm (32-35 weeks) and term (37-41 weeks) newborns using biochemical and immunohistochemical detection of α-actin, smooth muscle myosin heavy chain, smoothelin, and non-muscle myosin heavy chain. We found that the number of SMCs positive for smoothelin in UAs increased with gestational age. Western blot analysis revealed a higher content of smoothelin in term compared to very preterm UAs. These results show that SMCs in human UAs gradually acquire a fully differentiated contractile phenotype during the last trimester of gestation and thus that premature birth is associated with not fully differentiated contractile SMCs in human UAs. Copyright © 2012 Elsevier Ltd. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Javier Valdés-Hernández

    2009-10-01

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

  10. Brain size at birth throughout human evolution: a new method for estimating neonatal brain size in hominins.

    Science.gov (United States)

    DeSilva, Jeremy M; Lesnik, Julie J

    2008-12-01

    An increase in brain size is a hallmark of human evolution. Questions regarding the evolution of brain development and obstetric constraints in the human lineage can be addressed with accurate estimates of the size of the brain at birth in hominins. Previous estimates of brain size at birth in fossil hominins have been calculated from regressions of neonatal body or brain mass to adult body mass, but this approach is problematic for two reasons: modern humans are outliers for these regressions, and hominin adult body masses are difficult to estimate. To accurately estimate the brain size at birth in extinct human ancestors, an equation is needed for which modern humans fit the anthropoid regression and one in which the hominin variable entered into the regression equation has limited error. Using phylogenetically sensitive statistics, a resampling approach, and brain-mass data from the literature and from National Primate Research Centers on 362 neonates and 2802 adults from eight different anthropoid species, we found that the size of the adult brain can strongly predict the size of the neonatal brain (r2=0.97). This regression predicts human brain size, indicating that humans have precisely the brain size expected as an adult given the size of the brain at birth. We estimated the size of the neonatal brain in fossil hominins from a reduced major axis regression equation using published cranial capacities of 89 adult fossil crania. We suggest that australopiths gave birth to infants with cranial capacities that were on average 180cc (95% CI: 158-205cc), slightly larger than the average neonatal brain size of chimpanzees. Neonatal brain size increased in early Homo to 225cc (95% CI: 198-257cc) and in Homo erectus to approximately 270cc (95% CI: 237-310cc). These results have implications for interpreting the evolution of the birth process and brain development in all hominins from the australopiths and early Homo, through H. erectus, to Homo sapiens.

  11. Knowledge and use of folic acid for birth defect prevention among women of childbearing age in Shanghai, China: a prospective cross-sectional study.

    Science.gov (United States)

    Lian, Huan; Ma, Duan; Zhou, Shu-Feng; Li, Xiaotian

    2011-12-01

    This study aimed to assess the knowledge, attitude, and practice of folic acid intake for prevention of birth defects in Chinese women of child-bearing age. In this prospective cross-sectional study, a total of 1,338 women aged 20-45 years were randomly selected for interview. Data on folic acid knowledge and information on folic acid intake in the subjects were collected. Age, education, contraception, and status of family planning were used as the independent variables in multivariate logistic regression. 55.6% of the subjects took contraception at all times, and 33.9% had pregnancy planning in the next six months. 49.7% of the interviewed women knew the benefits of folic acid and 34.6% realized the correct time of folic acid intake; and 14.9% of these women actually took folic acid daily. Planning to be pregnant in the next six months was associated with knowledge of folic acid benefits, correct time of folic acid intake and actual intake. A higher education level was correlated with the knowledge of folic acid benefits and correct time of folic acid intake, but was not linked to actual intake of folic acid. The knowledge and use of folic acid were at low to moderate levels in women at childbearing age in Shanghai, China, and general knowledge of folic acid benefits and correct time of folic acid intake should be conveyed to these women.

  12. A STUDY ON PREVAL E NCE OF BIRTH DEFECTS AND ITS ASSOCIATION WITH RISK FACTORS IN FAKHRUDHIN ALI AH MED MEDICAL COLLEGE AND HOSPITAL

    Directory of Open Access Journals (Sweden)

    Alpana

    2015-07-01

    Full Text Available OBJECTIVE: Congenital anomalies or Birth Defects are a global problem. It is the most common cause of disability in developed and developing countries. This study aims to evaluate the overall prevalence of clinically detectable congenital anomalies in newborns along with the different forms of congenital anomalies and associated risk factors if any over a period of one year. MATERIALS AND METHOD S: I t’s an observational analytical cross sectional type of study. Seven thousand seven hundred and ninety eight babies born during the period from 1 st Nov, 2013 to 31 st Oct, 2014 were analyzed. Details of cases were recorded after parent’s interviews, clinical, radiological and laboratory evaluations. RESULTS: In our study, we have found that out of the total no. of 7798 babies born during the said period, the total number of congenital anomalies found were 53 0.7%. Cleft lip and palate was the most common anomaly followed by clubfoot. System wise, congenital anomaly of the musculoskeletal system was the highest (45.3%. A male preponderance is seen with M:F = 4:3. Maximum number of anomalies was found in the 20 - 25 y rs of age group. Moreover, anomalies were found more in primi gravida. Various risk factors were associated in 9 numbers of cases out of 53. CONCLUSIONS: Prevalence of congenital anomaly was found to be 0.7% and therefore awareness about preventable risk f actors should be created and early prenatal diagnosis and management of anomalies is recommended.

  13. Rare variants in NR2F2 cause congenital heart defects in humans.

    Science.gov (United States)

    Al Turki, Saeed; Manickaraj, Ashok K; Mercer, Catherine L; Gerety, Sebastian S; Hitz, Marc-Phillip; Lindsay, Sarah; D'Alessandro, Lisa C A; Swaminathan, G Jawahar; Bentham, Jamie; Arndt, Anne-Karin; Louw, Jacoba; Low, Jacoba; Breckpot, Jeroen; Gewillig, Marc; Thienpont, Bernard; Abdul-Khaliq, Hashim; Harnack, Christine; Hoff, Kirstin; Kramer, Hans-Heiner; Schubert, Stephan; Siebert, Reiner; Toka, Okan; Cosgrove, Catherine; Watkins, Hugh; Lucassen, Anneke M; O'Kelly, Ita M; Salmon, Anthony P; Bu'lock, Frances A; Granados-Riveron, Javier; Setchfield, Kerry; Thornborough, Chris; Brook, J David; Mulder, Barbara; Klaassen, Sabine; Bhattacharya, Shoumo; Devriendt, Koen; Fitzpatrick, David F; Wilson, David I; Mital, Seema; Hurles, Matthew E

    2014-04-01

    Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2, a very significant enrichment (p = 7.7 × 10(-7)) compared to 5,194 control subjects. We identified three additional CHD-affected families with other variants in NR2F2 including a de novo balanced chromosomal translocation, a de novo substitution disrupting a splice donor site, and a 3 bp duplication that cosegregated in a multiplex family. NR2F2 encodes a pleiotropic developmental transcription factor, and decreased dosage of NR2F2 in mice has been shown to result in abnormal development of atrioventricular septa. Via luciferase assays, we showed that all six coding sequence variants observed in individuals significantly alter the activity of NR2F2 on target promoters.

  14. Revisiting the daily human birth pattern: time of delivery at Casa de Maternidad in Madrid (1887-1892).

    Science.gov (United States)

    Varea, Carlos; Fernández-Cerezo, Susana

    2014-01-01

    Among the ancestral characteristics of the primate group to which Homo sapiens belongs we find a pattern of daytime physical activity, but one notable exception is birthing which usually begins with night-time labor. In populations with a moderate or high level of medicalized labor, there is evidence that the medical preferences interfere with the underlying biological mechanism for the circadian pattern of human birth. This study analyses the hourly patterns of 4,599 single live births in the House of Maternity in Madrid between 1887 and 1892, a period of very limited obstetric intervention and without the influence of artificial lighting. In order to determine the influence of natural light on labor, two periods of maximum and minimum light have been established around the summer and winter solstices of the years in question. A clear circadian pattern of births emerges, with very early morning and early morning births dominating, and a sharp drop from midday until nightfall. The hourly distribution on both solstices follows this pattern, but with a clear peak shift: in winter, there is a greater concentration of deliveries in the early morning, whereas in the summer, the highest concentration is between 8 and 12 in the morning. The results confirm that non-intervened human birth has a clear diurnal cycle, with a higher incidence of deliveries in the early morning or morning. The shift in distribution during the winter and summer solstices seems to confirm the effect of light on the labor process. © 2014 Wiley Periodicals, Inc.

  15. Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells

    Science.gov (United States)

    Hung, Sandy S.C.; Van Bergen, Nicole J.; Jackson, Stacey; Liang, Helena; Mackey, David A.; Hernández, Damián; Lim, Shiang Y.; Hewitt, Alex W.; Trounce, Ian; Pébay, Alice; Wong, Raymond C.B.

    2016-01-01

    Reprogramming of somatic cells into a pluripotent state is known to be accompanied by extensive restructuring of mitochondria and switch in metabolic requirements. Here we utilized Leber's hereditary optic neuropathy (LHON) as a mitochondrial disease model to study the effects of homoplasmic mtDNA mutations and subsequent oxidative phosphorylation (OXPHOS) defects in reprogramming. We obtained fibroblasts from a total of 6 LHON patients and control subjects, and showed a significant defect in complex I respiration in LHON fibroblasts by high-resolution respiratory analysis. Using episomal vector reprogramming, our results indicated that human induced pluripotent stem cell (hiPSC) generation is feasible in LHON fibroblasts. In particular, LHON-specific OXPHOS defects in fibroblasts only caused a mild reduction and did not significantly affect reprogramming efficiency, suggesting that hiPSC reprogramming can tolerate a certain degree of OXPHOS defects. Our results highlighted the induction of genes involved in mitochondrial biogenesis (TFAM, NRF1), mitochondrial fusion (MFN1, MFN2) and glycine production (GCAT) during reprogramming. However, LHON-associated OXPHOS defects did not alter the kinetics or expression levels of these genes during reprogramming. Together, our study provides new insights into the effects of mtDNA mutation and OXPHOS defects in reprogramming and genes associated with various aspects of mitochondrial biology. PMID:27127184

  16. Two independent killing mechanisms of Candida albicans by human neutrophils: evidence from innate immunity defects

    NARCIS (Netherlands)

    Gazendam, R.P.; Hamme, J.L. van; Tool, A.T.; Houdt, M. van; Verkuijlen, P.J.; Herbst, M.; Liese, J.G.; Veerdonk, F.L. van de; Roos, D.; Berg, T.K. van den; Kuijpers, T.W.

    2014-01-01

    Invasive fungal infections, accompanied by high rates of mortality, represent an increasing problem in medicine. Neutrophils are the major effector immune cells in fungal killing. Based on studies with neutrophils from patients with defined genetic defects, we provide evidence that human neutrophils

  17. Birth statistics for African (Loxodonta africana) and Asian (Elephas maximus) elephants in human care: history and implications for elephant welfare.

    Science.gov (United States)

    Dale, Robert H I

    2010-01-01

    African (Loxodonta africana) and Asian elephants (Elephas maximus) have lived in the care of humans for many years, yet there is no consensus concerning some basic parameters describing their newborn calves. This study provides a broad empirical basis for generalizations about the birth heights, birth weights, birth times and gestation periods of elephant calves born in captivity. I obtained data concerning at least one of these four characteristics for 218 newborn calves from 74 institutions. Over the past 30 years, newborn Asian elephants have been taller and heavier than newborn African elephants. Neonatal African elephants exhibited sex differences in both weight and height, whereas neonatal Asian elephants have exhibited sex differences only in height. Primiparous dams ex situ are at least as old as their in situ counterparts, whereas ex situ sires appear to be younger than sires in range countries. Confirming earlier anecdotal evidence, both African [N=47] and Asian [N=91] dams gave birth most often at night.

  18. Lymphocyte subsets in human immunodeficiency virus-unexposed Brazilian individuals from birth to adulthood

    Directory of Open Access Journals (Sweden)

    Maria Isabel de Moraes-Pinto

    2014-12-01

    Full Text Available Ethnic origin, genetics, gender and environmental factors have been shown to influence some immunologic indices, so that development of reference values for populations of different backgrounds may be necessary. We have determined the distribution of lymphocyte subsets in healthy Brazilian individuals from birth to adulthood. Lymphocyte subsets were determined using four-colour cytometry in a cross-sectional study of 463 human immunodeficiency virus-unexposed children and adults from birth through 49 years of age. Lymphocyte subsets varied according to age, as previously observed in other studies. However, total CD4+ T cell numbers were lower than what was described in the Pediatric AIDS Clinical Trials Group P1009 (PACTG P1009, which assessed an American population of predominantly African and Hispanic backgrounds until the 12-18 year age range, when values were comparable. Naïve percentages and absolute values of CD8+ T cells, as assessed by CD45RA expression, were also lower than the PACTG P1009 data for all analysed age ranges. CD38 expression on both CD4+ and CD8+ T cells was lower than the PACTG P1009 values, with a widening gap between the two studies at older age ranges. Different patterns of cell differentiation seem to occur in different settings and may have characteristic expression within each population.

  19. DNA oxidation as a potential molecular mechanism mediating drug-induced birth defects: phenytoin and structurally related teratogens initiate the formation of 8-hydroxy-2'-deoxyguanosine in vitro and in vivo in murine maternal hepatic and embryonic tissues.

    Science.gov (United States)

    Liu, L; Wells, P G

    1995-11-01

    A considerable number of teratogens, including the anticonvulsant drug phenytoin and structurally related drugs and environmental chemicals, may be bioactivated by peroxidases, such as prostaglandin H synthase (PHS) and lipoxygenases (LPOs), to a reactive free radical intermediate that initiates birth defects. However, the molecular targets of the reactive free radical intermediates mediating chemical teratogenesis, and hence the fundamental determinants of susceptibility, are poorly understood. In these studies, a teratogenic dose of phenytoin (65 mg/kg), when injected into pregnant CD-1 mice during organogenesis on gestational day 12, initiated the oxidation of DNA in maternal hepatic and embryonic nuclei, forming 8-hydroxy-2'-deoxyguanosine. Significant maternal and embryonic DNA oxidation occurred at 6 and 3 h, respectively, suggesting relative embryonic deficiencies in free radical-related cytoprotective enzymes, although the rates appeared similar. Maximal DNA oxidation in both maternal and embryonic tissues occurred at 6 h, presumably reflecting the balance of DNA oxidation and repair, the latter of which appeared similar in both tissues. Inhibition of phenytoin-initiated embryonic DNA oxidation by the free radical spin trapping agent alpha-phenyl-N-t-butylnitrone (41.5 mg/kg), and by acetylsalicylic acid (10 mg/kg), an inhibitor of the cyclooxygenase component of PHS, was consistent with the previously reported reduction by these inhibitors of phenytoin-initiated murine birth defects. In vitro studies using a horseradish peroxidase (0.5 mg/ml)-H2O2 (5.45 micrograms/ml) bioactivating system for drug-initiated oxidation of 2'-deoxyguanosine (3.74 mM), indicated that the potency of xenobiotic-initiated formation of 8-hydroxy-2'-deoxyguanosine for the structurally related drugs and metabolites phenytoin, 5-(p-hydroxyphenyl)-5-phenylhydantoin, trimethadione, dimethadione, l-mephenytoin, l-nirvanol, d-nirvanol (80 microM each), or thalidomide (64 micro

  20. 叶酸补充在出生缺陷一级预防措施中的应用%Use of folic acid in the primary prevention of birth defects

    Institute of Scientific and Technical Information of China (English)

    何晓蓉

    2013-01-01

      to eliminate the cause of diseases, prevent the occurrence of birth defects and improve the quality of newborns.Approach:Giving 1480 cases of women at childbearing age from pre-pregnancy or early stage of pregnancy a small dose of folic acid tablets"Serianen", as well as educational materials about the prevention of birth defects and eugenic trainings from January 2008 to December 2010.Results: the follow-up surveys on the 1480 cases of women after childbirth show, that non of their newborns has got birth defects such as neural tube defect or congenital heart disease, which means the preventive measures are 100% effective.Conclusion: Folic acid can effectively prevent birth defects such as neural tube defect and congenital heart disease. At the same time, the key of prevention of birth defects lies in taking primary preventive measures.%  目的:探讨叶酸补充在出生缺陷一级预防措施中的应用价值,预防出生缺陷的发生,提高人口出生素质。方法:2008年1月至2010年12月,让我区1480例准备生育的育龄女性从孕前及怀孕早期开始服用小剂量的叶酸增补剂斯利安,并为她们发放预防出生缺陷的宣传资料,对其进行分期优生培训。在1480例女性产后1个月至1年对其进行追踪调查。结果:调查结果显示,本组1480例女性所产小儿无一例发生神经管畸形及先天性心脏病等出生缺陷,预防出生缺陷的有效率为100%。结论:补充叶酸能有效地预防神经管畸形及先天性心脏病等出生缺陷。预防出生缺陷的关键在于采取一级预防措施。

  1. Prevalence of birth defects in the Tongzhou District of Beijing between 2006 and 2012%2006 ~ 2012年北京市通州区出生缺陷患病率的动态变化

    Institute of Scientific and Technical Information of China (English)

    郁静茹; 金蕾; 肖利华; 靳蕾

    2014-01-01

    目的:了解北京市通州区2006~2012年出生缺陷患病率的变化趋势和流行特征,为出生缺陷预防提供参考依据。方法依据2006~2012年北京市通州区出生缺陷监测系统资料,对出生缺陷的患病率及变化趋势等进行统计学分析,同时计算出生缺陷产前检出比例。结果7年间共监测到活产儿92340例,出生缺陷儿1165例,患病率为12.62‰,呈上升趋势(χ2=6.77,P<0.01)。户籍人口的出生缺陷患病率(11.55‰)低于流动人口(13.27‰),前者无趋势性变化,后者呈上升趋势(χ2=25.02,P<0.01)。出生缺陷患病率前5位分别是先天性心脏病、多指(趾)、唇腭裂、神经管缺陷、外耳畸形。先天性心脏病和“其他”类别的出生缺陷患病率呈上升趋势,而神经管缺陷患病率呈下降趋势。先天性心脏病产前检出比例逐年上升(χ2=14.80, P<0.01)。结论2006~2012年北京通州区出生缺陷患病率呈上升趋势,主要与流动人口出生缺陷率上升,监测出生缺陷类型不断扩展以及先天性心脏病诊断水平提高有关。%Objective To study the dynamic prevalence and epidemiological characteristics of birth defects distribution in the Tongzhou District of Beijing between 2006 and 2012. Methods Data collected from the birth defects surveillance system in the Tongzhou District of Beijing between 2006 and 2012 were used. The prevalence and trends of birth defects were analyzed, also the proportion of birth defects in prenatal diagnosis was calculated. Results Between 2006 and 2012, 1 165 cases of birth defects were identiifed among 92 340 births, with a prevalence of 12.62‰. The prevalence of birth defects showed an increased trend during the seven years (χ2=6.77, P<0.01). The prevalence in the lfowing population (13.27‰) was higher than that in the permanent residents (11.55‰), and the former showed an upward trend during the seven years (χ2

  2. Human milk oligosaccharide effects on intestinal function and inflammation after preterm birth in pigs

    DEFF Research Database (Denmark)

    Rasmussen, Stine O.; Martin, Lena; Østergaard, Mette V.

    2017-01-01

    Human milk oligosaccharides (HMOs) may mediate prebiotic and anti-inflammatory effects in newborns. This is particularly important for preterm infants who are highly susceptible to intestinal dysfunction and necrotizing enterocolitis (NEC). We hypothesized that HMO supplementation of infant formula...... (IF) improves intestinal function, bacterial colonization and NEC resistance immediately after preterm birth, as tested in a preterm pig model. Mixtures of HMOs were investigated in intestinal epithelial cells and in preterm pigs (n=112) fed IF supplemented without (CON) or with a mixture of four HMOs...... (4-HMO) or >25 HMOs (25-HMO, 5-10 g/L given for 5 or 11 days). The 25-HMO blend decreased cell proliferation and both HMO blends decreased lipopolysaccharide-induced interleukin-8 secretion in IPEC-J2 cells, relative to control (P

  3. Preventing preterm births: trends and potential reductions with current interventionsin 39 very high human development index countries

    Science.gov (United States)

    Chang, Hannah H.; Larson, Jim; Blencowe, Hannah; Spong, Catherine Y.; Howson, Christopher P.; Cairns-Smith, Sarah; Lackritz, Eve M.; Lee, Shoo K.; Mason, Elizabeth; Serazin, Andrew C.; Walani, Salimah; Simpson, Joe Leigh; Lawn, Joy E.

    2013-01-01

    Summary Background Each year,1.1 million babies die from prematurity, andmany survivors are disabled. Worldwide, 15 million babies are preterm(human development index (VHHDI) countries if current evidence-based interventions were widely implemented. This analysis is to inform a “Born Too Soon” rate reduction target. Methods Countries were assessed for inclusion based on availability and quality ofpreterm prevalence data (2000-2010), and trend analyses with projections undertaken. We analysed drivers of rate increases in the USA, 1998-2004. For 39 VHHDI countrieswith >10,000 births, country-by-country analyses were performed based on target population, incremental coverage increase,and intervention efficacy. Cost savings were estimated based on reported costs for preterm care in the USAadjusted usingWorld Bank purchasing power parity. Findings From 2010, even if all VHHDI countries achieved annual preterm birth rate reductions of the best performers, (Sweden and Netherlands), 2000-2010 or 2005-2010(Lithuania, Estonia)), rates would experience a relative reduction of<5% by 2015 on average across the 39 countries.Our analysis of preterm birth rise 1998-2004 in USA suggests half the change is unexplained, but important drivers includeinductions/cesareandelivery and ART.For all 39 VHHDI countries, five interventionsmodeling at high coveragepredicted 5%preterm birth rate relative reduction from 9.59 to 9.07% of live births:smoking cessation (0.01 rate reduction), decreasing multiple embryo transfers during assisted reproductive technologies (0.06), cervical cerclage (0.15), progesterone supplementation (0.01), and reduction of non-medically indicated labour induction or caesarean delivery (0.29).These translate to 58,000 preterm births averted and total annual economic cost savings of ~US$ 3 billion. Interpretation Even with optimal coverage of current interventions, many being complex to implement, the estimated potential reduction in preterm birth is tiny. Hence we

  4. [Homologous human milk supplement for very low birth weight preterm infant feeding].

    Science.gov (United States)

    Grance, Thayana Regina de Souza; Serafin, Paula de Oliveira; Thomaz, Débora Marchetti Chaves; Palhares, Durval Batista

    2015-01-01

    To develop a homologous additive of human milk for feeding the very low weight infants with an original and simplified methodology, to know the nutritional composition of fortified human milk with this additive and to evaluate its suitability for feeding these infants. For the production and analysis of human milk with the homologous additive, 25 human milk samples of 45 mL have undergone a lactose removal process, lyophilization and they were diluted in 50 mL of human milk. Doses of lactose, proteins, lipids, energy, sodium, potassium, calcium, phosphorus and osmolality were measured. The composition of the additive milk was lactose 9.22 ± 1.00 g/dL; proteins 2.20 ± 0.36 g/dL; lipids 2.91 ± 0.57 g/dL; calories 71.93 ± 8.69 kcal/dL; osmolality 389.6 ± 32.4 mOsmol/kg H2O; sodium 2.04 ± 0.45 mEq/dL; potassium 1.42 ± 0.15 mEq/dL; calcium 43.44 ± 2.98 mg/dL; and phosphorus 23.69 ± 1.24 mg/dL. According to the nutritional contents analyzed, except for calcium and phosphorus, the human milk with the proposed additive can achieve the nutritional needs of the very low birth weight preterm infant. Copyright © 2014 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.

  5. Analysis of monitoring results of birth defects in Leshan city during 2006-2010%乐山市2006~2010年出生缺陷监测结果分析

    Institute of Scientific and Technical Information of China (English)

    吴敏

    2012-01-01

    OBJECTIVE To analyze the trend and risk factors of birth defects of 2006 - 2010 Leshan City. METHODS According to the require of the Sichuan birth monitoring program, 23 healthcare organizations were monitored in Leshan City and the results were collected and reported. RESULTS Total incidence rate of birth defects was 9.8 1‰ and the rate of perinatal birth defect in last five years declined significantly. The rate of birth defects of parturient aged from 20 to 35 was significantly higher. There was no significant difference of birth defects between male and female babies. In Leshan City, multi-finger/toe, small ear/no ear, external ear deformities, cleft lip and cleft palate, cleft lip and urethra hypospadias were most common defects; The rate of prenatal diagnosis was 12.26%. The incidence of birth defects associated with inheritance and pre-pregnancy or prenatal monitoring. CONCLUSION Health education, prevention and monitoring of pregnant women should be strengthened in Leshan to reduce the incidence of birth defects.%目的 分析乐山市2006~2010年出生缺陷发生趋势及其高危因素,制定干预措施,降低出生缺陷发生率.方法 按照《四川省出生缺陷监测方案》要求,对乐山市23所医疗保健机构出生缺陷进行监测,由县妇幼保健院收集汇总上报.结果 出生缺陷总发生率9.81%,5年来围产儿出生缺陷发生率历经波峰后稳步下降,差异有统计学意义;孕产妇20岁及35岁年龄组,出生缺陷率明显增高;男性与女性出生缺陷发生率差异无统计学意义;乐山市出生缺陷前6位是多指/趾、小耳/无耳、外耳其他畸形、唇裂并腭裂、唇裂、尿道下裂;产前诊断率12.26%;出生缺陷发生与遗传及孕前产前监测有一定关联.结论 进一步加强育龄妇女及其家庭健康教育促进,增强“三级预防”体系功能,重视婚前孕前检查与产前筛查(诊断)工作,做到早预防、早诊断、早处置,以降低

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

    Science.gov (United States)

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

    2016-02-01

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

  7. Analysis of birth defects supervision in obstetrical hospitals in Beijing Haidian District%北京市海淀区产科医院出生缺陷监测分析

    Institute of Scientific and Technical Information of China (English)

    钟赋真; 张雪峰; 周钰

    2012-01-01

    Objective To understand the incidence of birth defects in hospitals in Haidian District during recent years so as to provide management clue for supervision in the future. Methods From October 1 of 2006 to September 30 of 2010, fetus and newborns between 13 gestational weeks and 7d after delivery were supervised for birth defects in hospitals of Haidian district, and the supervision results were analyzed in terms of rate and cis position. Results There were 3 776 defected cases including 2 861 cases in perinatal period ( the incidence rate of birth defects in perinatal period was 17. 98‰ ) and 906 cases induced to abortion in second trimester. In floating population the incidence rate of birth defects showed a rising trend in perinatal period during these years( x2 =52. 250, P = 0. 000 ). The first five highest rates of birth defects were congenital heart disease, deformity of external ear, multi finger ( toe ), merged finger ( toe ) and hypospadias in order. The trend of neural tube defects rate was stable and the incidence of cleft lip dropped obviously. But the incidence of Trisomy 21 rose gradually, and there was no significant difference (x2 =6. 906, P =0. 075 ). Conclusion The incidence rate of birth defects is 17. 98‰ in hospitals of Haidian district, and the trend of birth defects rate is rising during 2006-2010 year especially in floating population. The primary prevention of folic acid supplement should be strengthened.%目的 了解近年来北京市海淀区医院出生缺陷的发生情况,为今后监测工作的管理重点提供依据.方法 对2006年10月1日至2010年9月30日期间北京市海淀区产科医院孕13周~产后7天的胎儿及新生儿进行出生缺陷监测,并对监测结果进行率及顺位等分析.结果 ①监测到出生缺陷儿3 776例,其中围产期2 861例(围产期出生缺陷儿发生率为17.98‰),中孕引产906例;②2006至2010年,外地户籍围产期出生缺陷发生率呈逐年上升的趋势(χ2

  8. 四川省双流县2010年~2014年围产儿出生缺陷监测分析%Analysis of birth defects surveillance data of perinatal babies from 2010 to 2014 in Shuangliu county, Sichuan province

    Institute of Scientific and Technical Information of China (English)

    徐珠屏; 王洋

    2016-01-01

    Objective:To understand the condition and causes of birth defects in Shuangliu county,thus provide the scientific basis for improving population quality and reducing birth defects.Methods:The birth defects surveillance data of perinatal babies from 2010 to 2014 in 3 hospitals on a county scale were arranged and analyzed.Results:From 2010 to 2014,The total incidence of birth defects was 9.71‰.The main birth defects types were,in order,congenital heart disease,polydactylism,microtia (including anotia),harelip,syndactylia,all the 5 types birth defects paid 53.23% of all.Among birth defects children,there had a higher ratio in male compared with female,also a higher ratio in town compared with rural area.The data also showed that the maternal ages which were less than 20 or be equal or greater than 35 had a higher ratio of birth defects.The birth defects were the leading cause of perinatal deaths.Conclusion:In order to reduce birth defects and improve population quality,we should carry out the work of birth defects surveillance and comprehensive interventionson a big scale,actively develop the "three-step-prevention" mode of birth defects.%目的 了解四川省双流县围产儿出生缺陷情况及影响因素,为提高人口素质、降低出生缺陷率提供科学依据.方法对2010年~2014年全县3家出生缺陷监测医院分娩的围产儿出生缺陷监测相关资料进行回顾性分析.结果双流县2010年~ 2014年围产儿出生缺陷发生率为9.71‰,是导致围产儿死亡的首要原因;主要出生缺陷依次为先天性心脏病、多指、小耳(包括无耳)、唇裂和并指,占全部缺陷类型的53.23%.结论 应大力开展国产儿出生缺陷监测与综合干预工作,积极开展三级预防工作,以减少出生缺陷的发生,提高人口素质.

  9. Research Progress of Factors Related to Birth Defect and Interventional Measures%出生缺陷相关因素的研究进展及干预措施

    Institute of Scientific and Technical Information of China (English)

    祝轲

    2011-01-01

    Birth defect prevails worldwide as a heavy burden to the state, society and the family, and affects the quality of population and development of social civilization.It is a basic national policy to control and improve the quality of the population, whereas birth defect is an important factor which affects the quality of the population.In this paper,hereditary factors,environmental factors,drug factors,psychological factors of birth defect are described.The surveillance,tertiary prevention,government intervention,establishment of early warning systems and other research progress of interventional measures of birth defect are discussed,in aiming to improve the quality of the population and protect the population health.%出生缺陷在全世界占有相当高的比例,给国家、社会和家庭带来了沉重负担,影响到人口素质及社会文明的发展.控制人口数量,提高人口素质是我国的一项基本国策,而出生缺陷则是严重影响人口素质的一个重要因素.现从遗传因素、环境因素、药物因素、心理因素等方面阐述出生缺陷的相关因素,并从出生缺陷监测、三级预防、政府政策干预以及建立出生缺陷预警系统等方面探讨出生缺陷干预措施的研究进展,为提高人口素质,保护人群健康提供基础.

  10. 陕西省2006-2010年出生缺陷医院监测结果分析%Analvsis of monitoring results for birth defects in Shaanxi province from 2006 to 2010

    Institute of Scientific and Technical Information of China (English)

    李盘; 周晓娟; 甘露; 杨杨

    2012-01-01

    [Objective] To investigate the incidence and epidemiologic characteristics of birth defects in Shaanxi province, then to provide scientific evidences for the key of future work. [Methods] All perinatal infants aged from 28 weeks of gestation to 7 days after birth in 25 monitoring hospitals in Shaanxi province from 2006 to 2010 were monitored for birth defects. The data were entered by Excel 2003 and analyzed by SPSS 13. 0 software. [Results] The incidence of birth defects in Shaanxi province from 2006 to 2010 was 117. 8 per 10 000. There was an annual ascending tendency in incidence of birth defects(x2 =16. 81 ,P<0. 01). The first five main birth defects were total cleft lip,neural tube defects,congenital heart diseases,polydactyly, congenital hydrocephalus, respectively. The incidence of congenital heart diseases showed a year by year ascending trend(x2 =8. 58,Pbirth defects in rural areas was significantly higher than that in urban area(x2 =70. 72,P<0. 01). Single defects took up 83. 5%. There were 52. 2% cases diagnosed by ultrasound and 45. 9% cases diagnosed by clinical. The Prenatal diagnosis rate was 48. 1%. The perinatal mortality rate was 8. 3%o and showed a year by year descending trend(x2 =6. 91 ,P<0. 01). During the five years,the mortality among defective perinatal infants was significantly higher than that among non-defective perinatal infants, and the incidence of birth defects among dead perinatal infants was also significantly higher than the incidence of other cause of death. [Conclusions] The incidence of birth defect in Shaanxi province from 2006 to 2010 is lower than the nationwide contemporary level. Much attention should be paid to reduce the incidence of birth defects in rural areas, carr,y out the preventive work of neural tube defect and improve the prenatal diagnosis ability of all monitoring hospitals.%[目的]了解陕西省出生缺陷的发生水平及分布特征,为今后工

  11. 出生缺陷影响因素的meta分析%A meta -analysis of risk factors of birth defects

    Institute of Scientific and Technical Information of China (English)

    贺亚琴; 郑玉华; 王晓成; 梅志强

    2012-01-01

    Objective; To explore risk factors related to perinatal birth defects in order to provide evidence for birth defects prevention. Methods; Twelve papers were analyzed by a meta - analysis method. The cumulative cases and controls were 3 771 and 31 549, respectively. Results; The pooled odds ratio ( OR) values of single - factor - analysis were as follows; family genetic history (5.11), abnormal child - bearing history (2.94) , consanguineous marriage (7. 69) , the number of pregnancy (4. 67) , parity (1.77) , gestational age (0.71) , domestic contamination (2.22) , exposure to harmful substances (4. 37) , catching a cold during pregnancy (2.18) , fever during pregnancy (10.25), drug use (2.98) , pet contacting during pregnancy (3.12) , paternal smoking (2.32) and drinking(1. 90) , dietary intake of fresh vegetables(0. 59) and fruits ( 0.67). The pooled odds ratio ( OR) values of multiple - factor analysis were as follows: family genetic history (2.61), abnormal child - bearing history (2.87), drug use (5. 11), exposure to harmful substances (4.76), paternal smoking (1. 53 ). Conclusion; The risk factors of birth defects are family genetic history and abnormal child - bearing history, consanguineous marriage, the number of pregnancy, parity, and domestic contamination, exposure to harmful substances, catching a cold and fever during pregnancy, drug use, pet contacting during pregnancy, and paternal smoking and drinking. The protective factors are the gestational age and dietary intake of fresh vegetables and fruits.%目的:探讨出生缺陷发生的影响因素,为开展防治工作提供依据.方法:利用meta分析方法研究国内12篇关于出生缺陷发生影响因素的文献.累计病例3 771例,对照31 549例.结果:单因素分析中各因素及其合并比值比(OR)分别为:家族遗传史(5.11)、生育畸形史(2.94)、近亲结婚(7.69)、胎数(4.67)、产次(1.77)、胎龄(0.71)、家庭附近有污染(2.22)、孕期暴露于有害物质(4.37)

  12. Analysis of the Relationship Between Pregnancy Checkups and Birth Defects Prevention%孕前优生健康检查与出生缺陷预防的关系分析

    Institute of Scientific and Technical Information of China (English)

    郭勇义

    2015-01-01

    Objective Analysis of the relationship between pre pregnancy checkups and birth defects prevention and its effect on the prevention of birth defects. Methods 355 women who did pre pregnancy health examination in our hospital from January 2010 to December 2013 as the observation group, the other to participate in investigation of 380 cases of women who not for pre pregnancy health examination as control group. Establish files for two groups of pregnant women, recorded follow-up situation, pregnancy outcome, the incidence of birth defects registration, compared incidence of birth defects of two groups. Results In observation group, the incidence of birth defects was 0.3%(1 cases of cleft lip and palate), was significantly lower than control group of 1.9%(3 cases of cleft lip and palate , 2 cases of neural tube defects, 1 cases of congenital heart disease, 1 cases of finger/toe deformity), difference was statistically significance (P0.05). Conclusion Using eugenic health before pregnancy in the application of married female school-age pregnancy before can effectively control their disease, through the analysis of the risk factor intervention, evaluate to prevent birth defects in situation, the maximum reduce the incidence of birth defects in newborns.%目的:探析孕前优生健康检查与出生缺陷预防关系及其在预防出生缺陷方面的效果。方法整群选择2010年1月-2013年12月期间于该院进行孕前优生健康检查355名妇女作为观察组,另以参与调查研究且未行孕前优生健康检查380例妇女作为对照组。为两组孕妇建立档案,对随访情况进行记录,登记妊娠结局、出生缺陷发生率,比较两组出生缺陷发生率。结果观察组出生缺陷发生率为0.3%(1例唇腭裂),显著低于对照组1.9%(3例唇腭裂、2例神经管畸形、1例先天性心脏病、1例指/趾畸形),对比差异有统计学意义(P0.05)。结论孕前优生健康在已婚适龄女性孕产前的应

  13. 昌吉州2005至2010年486例出生缺陷分析%Analysis of birth defects of 486 cases in 2005-2010 in Changji

    Institute of Scientific and Technical Information of China (English)

    陈筱萍; 李冬梅; 马彦华

    2011-01-01

    Objective To investigate the incidence of birth defects and related factors in Changji so as to provide some basis for working out preventive measures for birth defects. Methods A retrospective study was conducted to analyze the data of 486 cases of birth defects collected from each hospital in Changji from 2005 to 2010. Results The incidence of birth defects increased year by year from 2005 to 2010, and it increased in 2010 ( 10. 67‰ ) by 5. 61% compared with that in 2005 ( 5. 06 ‰). The incidence of birth defects when pregnant women were over 35 years and over 40 years was 8. 28% ‰ and 10. 67‰ respectively. The sequence of birth defects was neural tube defects, cleft lip and palate, polydactyly, congenital hydrocephalus, congenital heart disease and talipes equinovarus in order. Conclusion The advanced ages and rural areas are the focus of prevention work. Strengthening propaganda on prenatal and postnatal care, enhancing system management during pregnancy, taking low-dose folic acid tablets before pregnancy and at early pregnancy and improving prenatal diagnostic technique are the effective measures to reduce the incidence of birth defects.%目的 了解昌吉州出生缺陷发生情况及相关因素,为制订预防出生缺陷的措施提供依据.方法 收集昌吉州辖区内各家医院2005至2010年间出生的486例缺陷儿的资料,进行回顾性分析.结果 2005至2010年出生缺陷发生率呈逐年上升趋势,2005年(5.06‰)与2010年(10.67‰)相比上升了5.61‰;年龄大于35、40岁以上妊娠者缺陷发生率分别为8.28‰、10.67‰;出生缺陷的顺位依次为神经管畸形、唇腭裂、多指趾、先天性脑积水、先心病、马蹄内翻.结论 高龄孕妇、农村地区是出生缺陷工作预防的重点,加强优生优育宣传,加强孕期系统管理,在孕前、孕早期服用小剂量叶酸片,提高产前诊断技术,是降低出生缺陷发生率的有效措施.

  14. Retrospective Analysis of Perinatal Birth Defects in a City of Zhe Jiang Province during 2000-2010%浙江省兰溪市2000-2010年围产儿出生缺陷及相关因素分析

    Institute of Scientific and Technical Information of China (English)

    朱兰英

    2011-01-01

    Objective: To analyze the Zhejiang city of birth defects and dynamics in the basic situation, seek to influence the city's main reason for birth defects and prevention strategies. Methods: Maternal and Child Health Hospital of Obstetrics city 2000-2010 Statistical analysis of birth defects. Results: 9458 cases of perinatal birth defects occurred in 216 patients, the total incidence of birth defects 28.86‰; birth defects. child mortality rate 3.62 ‰.The top five birth defects are cleft lip and palate, neural tube development defects. no brain child, congemtal heart disease, umbilical hemia; the incidence of birth defects is proportional to matemal age, 36 years old pregnant women are high risk factors ofbirth defects occur;The incidence of birth defects in rural areas than urban . Conclusions: Prenatal screening of pregnant women of childbearing age, pregnant women of childbearing age in rural areas and knowledge of universal care, prenatal and postnatal care ofwomen during pregnancy bearing age to create a favorable social and cultural environment of birth, in health policy and health insurance system to give moderate tiltreduce the incidence of birth defects.%目的:分析浙江省兰溪市围产儿出生缺陷的基本情况及动态变化,探索影响该市围产儿出生缺陷的主要原因和预防策略.方法:对2000-2010年兰溪市妇幼保健院产科出生缺陷资料进行统计分析.结果:9458例围产儿中发生出生缺陷216例,总出生缺陷发生率28.86‰;出生缺陷儿死亡率3.62‰.出生缺陷前五位的是唇腭裂、神经管发育畸形、无脑儿、先天性心脏病、脐疝;出生缺陷发生率与孕产妇年龄成正比,36岁以上孕妇是发生出生缺陷的高危因素;农村出生缺陷的发生率高于城市.结论:加强育龄孕妇产前筛查、农村育龄妇女孕期护理和相关知识的普及,降低围产儿的出生缺陷发生率.

  15. Birth Defects Data and Statistics

    Science.gov (United States)

    ... or without cleft palate Limb deficiency Trisomy 18 (Edwards syndrome) Hypospadias Asian, Non-Hispanic Spina bifida without anencephaly ... Gastroschisis Omphalocele Black, Non-Hispanic Encephalocele Trisomy 18 (Edwards syndrome) Aortic valve stenosis Cleft lip with or without ...

  16. Reducing Risks of Birth Defects

    Science.gov (United States)

    ... is taking a multivitamin important before and during pregnancy? Prenatal vitamin supplements contain the recommended amounts of the vitamins and minerals you will need during your pregnancy, such as vitamins A, C, and D; folic acid ; and minerals ...

  17. Screening Tests for Birth Defects

    Science.gov (United States)

    ... condition and are done on cells obtained through amniocentesis , chorionic villus sampling , or, rarely, fetal blood sampling. ... and, in smaller amounts, in the mother’s blood. Amniocentesis: A procedure in which a needle is used ...

  18. Dynamic Changes of Pulmonary Arterial Pressure and Ductus Arteriosus in Human Newborns From Birth to 72 Hours of Age

    OpenAIRE

    2016-01-01

    Abstract Normal pulmonary artery pressure and pulmonary hypertension assessment of newborns is rarely reported. The aim of the study is to explore dynamic changes of pulmonary arterial pressure and ductus arteriosus in human newborns from birth to 72 h of age with echocardiography. A total of 76 cases of normal newborns were prospectively detected by echocardiography after birth of 2 h, 6 h, 12 h, 24 h, 48 h, and 72 h, respectively. Ductus arteriosus diameter, blood shunt direction, blood flo...

  19. Early-life experiences and the development of adult diseases with a focus on mental illness: The Human Birth Theory.

    Science.gov (United States)

    Maccari, Stefania; Polese, Daniela; Reynaert, Marie-Line; Amici, Tiziana; Morley-Fletcher, Sara; Fagioli, Francesca

    2017-02-07

    In mammals, early adverse experiences, including mother-pup interactions, shape the response of an individual to chronic stress or to stress-related diseases during adult life. This has led to the elaboration of the theory of the developmental origins of health and disease, in particular adult diseases such as cardiovascular and metabolic disorders. In addition, in humans, as stated by Massimo Fagioli's Human Birth Theory, birth is healthy and equal for all individuals, so that mental illness develop exclusively in the postnatal period because of the quality of the relationship in the first year of life. Thus, this review focuses on the importance of programming during the early developmental period on the manifestation of adult diseases in both animal models and humans. Considering the obvious differences between animals and humans we cannot systematically move from animal models to humans. Consequently, in the first part of this review, we will discuss how animal models can be used to dissect the influence of adverse events occurring during the prenatal and postnatal periods on the developmental trajectories of the offspring, and in the second part, we will discuss the role of postnatal critical periods on the development of mental diseases in humans. Epigenetic mechanisms that cause reversible modifications in gene expression, driving the development of a pathological phenotype in response to a negative early postnatal environment, may lie at the core of this programming, thereby providing potential new therapeutic targets. The concept of the Human Birth Theory leads to a comprehension of the mental illness as a pathology of the human relationship immediately after birth and during the first year of life.

  20. Monitoring and analysis of the Population Birth Defects in Tianjin Downtown from 2008 to 2010%天津市区2008~2010年人群出生缺陷监测资料分析

    Institute of Scientific and Technical Information of China (English)

    李宝娟

    2012-01-01

    OBJECTIVE To analyze the population birth defects prevalence and potential affecting factors in Tianjin downtown from 2008 to 2010. METHODS The data of fetus and infants in Tianjin city from 2008 to 2010 were collected and analyzed. RESULTS A total of 1 062 cases with birth defect were collected from 65 990 births, with an overall prevalence rate of 160.93/104 births. The rates in male and female births were 172.34/104 births and 146.65/104 births, and there was significant difference between the two groups (r = 6.902, P< 0.01). Compared with 20-29 years old, the rate was 189.61/104 births in an age ≥30 years group, especially, the rate was 482.76/104 births in an age ≥40 years group (χ2 = 18.849, P < 0.001). There was significant difference in premature delivery and low birth weight babies (χ2 = 404.491, P< 0.001; χ2 = 381.164, P < 0.001). The rate was 3 505.98 per 10 000 births in fetal death and stillbirth, early neonatal death and death with in 7-42 days. The rate was 25.91 times of live-births (χ2 = 3 663.76, P< 0.01). Birth defect risk factors included male births, elderly puerperal, premature delivery babies and babies with low birth weight. CONCLUSION Annual prevalence rate of birth defect in Tianjin presented an increasing trend. The improvement ability in diagnosis and monitoring should be partly accounted for it. Birth defects were more likely to occur in elderly puerpera's babies, premature and low birth weight babies. The babies were mortality in high and poor prognosis.%目的 了解2008~2010年天津市区人群出生缺陷的发生情况及其影响因素.方法 对2008~2010年居住在天津市市内6区的产妇所分娩的胎婴儿资料进行分析.结果 共收集围产儿65 990例,出生缺陷儿1 062例,发生率为160.93/万.男、女性胎婴儿出生缺陷发生率分别为172.34/万和146.65/万,差异有统计学意义(x2=6.902,P<0.01);与20~29岁相比,产妇年龄在30岁以上,尤其是40岁以上时,胎婴

  1. Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth

    Directory of Open Access Journals (Sweden)

    Fellman Vineta

    2010-12-01

    Full Text Available Abstract Background The onset of birth in humans, like other apes, differs from non-primate mammals in its endocrine physiology. We hypothesize that higher primate-specific gene evolution may lead to these differences and target genes involved in human preterm birth, an area of global health significance. Methods We performed a comparative genomics screen of highly conserved noncoding elements and identified PLA2G4C, a phospholipase A isoform involved in prostaglandin biosynthesis as human accelerated. To examine whether this gene demonstrating primate-specific evolution was associated with birth timing, we genotyped and analyzed 8 common single nucleotide polymorphisms (SNPs in PLA2G4C in US Hispanic (n = 73 preterm, 292 control, US White (n = 147 preterm, 157 control and US Black (n = 79 preterm, 166 control mothers. Results Detailed structural and phylogenic analysis of PLA2G4C suggested a short genomic element within the gene duplicated from a paralogous highly conserved element on chromosome 1 specifically in primates. SNPs rs8110925 and rs2307276 in US Hispanics and rs11564620 in US Whites were significant after correcting for multiple tests (p PLA2G4C activity. Conclusions Our findings suggest that variation in PLA2G4C may influence preterm birth risk by increasing levels of prostaglandins, which are known to regulate labor.

  2. Research on the influence factors of birth defect in Zhongshan City%中山市出生缺陷发生的相关影响因素调查分析

    Institute of Scientific and Technical Information of China (English)

    熊付兴; 王丹; 史妙丽

    2016-01-01

    目的:调查分析中山市出生缺陷的相关影响因素,为出生缺陷一级干预提供决策支持。方法选择2014年1月至2016年1月中山市105例出生缺陷儿作为缺陷组,同期选择105例无出生缺陷的新生儿作为对照组。对两组父母的“国家免费孕前优生健康检查项目”档案中疾病史、用药史、孕育史、家族史、饮食营养、生活习惯、环境毒害物接触、社会心理因素以及孕前的各种医学检验结果进行分析。结果两组父母文化程度、在孕产史、用药史、饮食营养、生活习惯、生活环境、疾病史、家族遗传病史等因素比较,差异有统计学意义(P <0.05)。家庭经济收入低、孕期营养状况差、早孕期自然流产、死胎死产、曾用避孕药、被动吸烟、接解放射线是出生缺陷的危险因素。结论新生儿出生缺陷的危险因素较多,临床医生需加强宣传,指导女性进行婚前、孕前检查,养成良好的生活习惯,从而减少新生儿出生缺陷的发生。%Objective To investigate and analyze the related influence factors of birth defect in Zhongshan City,Providing decision support for the first -level intervention.Methods 105 children with birth defect in Zhongshan City from January of 2014 to January of 2016 were selected as defect group,and 105 children without birth defect were selected as control group.The disease history,medication history,birth history,family history,diet,living habits,environmental poisonexposure,social psy-chological factors and pre -pregnancy medical testing results from "national free pre pregnancy health check"archives were ana-lyzed.Results The differences in the degree of education,history of gestation,history of pharmacy,diet nutrition,living hab-it,diseases history,history of family genetic disease and some other factors of parents between two goups were statistically signifi-cant (P <0.05).The low family income,bad nutriture at

  3. Atrioventricular Canal Defect

    Science.gov (United States)

    ... doctor See your doctor if you or your child develops signs or symptoms of atrioventricular canal defect. Atrioventricular canal defect occurs before birth when a baby's heart is developing. Some factors, such as Down syndrome, might increase the risk of atrioventricular canal defect. ...

  4. 产前超声诊断胎儿出生缺陷的临床分析%The Clinical Study on the Diagnosis of Fetal Birth Defect by Prenatal Ultrasound Examination

    Institute of Scientific and Technical Information of China (English)

    马澜竹

    2015-01-01

    目的:探究产前超声诊断对胎儿出生缺陷的临床分析。方法选取2012年4月~2013年12月在我院就诊的627例孕妇进行产前的超声诊断,观察超声检查的图像。结果产前超声诊断的符合率为95.12%,漏诊率为4.9%,符合率较高,准确率高,有统计学意义(P<0.05)。结论产前的超声诊断能够准确检查出胎儿的出生缺陷问题,提高优生优育,为胎儿出生缺陷干预重要有效的方法。%Objective Clinical study on the diagnosis of fetal birth defect by prenatal ultrasound examination is to be investigated. Methods Chose 627 pregnant women who were received and treated in hospital from April 2012 to December 2013 and get them tested by prenatal ultrasound examination. And then make an observation on ultrasound image. Results The accuracy of prenatal ultrasound examination was up to 95.12%,and misdiagnosis probability was 4.9%; the prenatal diagnosis was of high accuracy and its outcome had statistic value(P<0.05). Conclusion Prenatal ultrasound examination is of high accuracy in diagnosis of fetal birth defect which is beneficial to improve sound birth and superior nurture; it is a quite effective way to prevent from fetal birth defect.

  5. Smoking attenuated the association between IκBα rs696 polymorphism and defective spermatogenesis in humans.

    Science.gov (United States)

    Yu, B; Ding, Q; Zheng, T; Jiang, L; Li, Q; Sun, X; Bai, C; Huang, Z

    2015-11-01

    Defective spermatogenesis is prevalent in infertile men, but the molecular mechanisms underlying its aetiology are largely unknown. In this study, a proposed association between IκBα SNPs, smoking-related ROS and sperm quality was investigated. Two polymorphisms in the IκBα gene, rs2233406 and rs696 were genotyped in 342 controls and 338 patients with defective spermatogenesis from a southern Chinese population. The results showed the rs696 AA genotype to be significantly more common (21.60% versus 14.33%, P = 0.013) and the rs696 GG genotype to be significantly rarer (28.99% versus 37.13%, P = 0.024) in the cases than in the controls. After subjects were stratified into smokers and nonsmokers, these differences were only observed in nonsmokers. Further analysis showed the rs696 AA genotype to be significantly closely associated with defective spermatogenesis in all subjects (P = 0.014, OR = 1.647) and in nonsmokers (P = 0.036, OR = 1.889). In a TM3 cell model, exposure to cigarette smoke condensate was found to activate NF-κB luciferase activity and altered transcriptional level of NF-κB pathway genes. In conclusion, this study demonstrates an association between functional polymorphisms of the IκBα rs696 and cigarette smoking with the risk of defective spermatogenesis, suggesting some interaction between the NF-κB signalling pathway and smoking-related ROS in human spermatogenesis.

  6. Analysis on the status of birth defects of Derinatal infants between 2001 and 2010 inZhoushan IslandsZheiiana Province%舟山群岛2001年~2010年围产儿出生缺陷资料分析

    Institute of Scientific and Technical Information of China (English)

    徐君球

    2011-01-01

    目的 了解舟山群岛10年间围产儿出生缺陷发生情况及变化趋势,探寻和分析出生缺陷发生因素.方法 采用纵向比较方法对舟山群岛出生缺陷资料进行分析.结果 出生缺陷发生率14.43‰,本地和流动经检验无差异,出生缺陷前10位顺位以先天性心脏病、唇腭裂、副耳等为主.结论 建立健全出生缺陷三级预防机制,多措施降低出生缺陷发生率.%Objective: To understand the status and trend of birth defects and explore and analyze the occurred factors of birth defects among ten years in Zhoushan Islands of Zhejiang Province. Methods: Longitudinal comparison method was used to analyze the data of birth defects in Zhoushan Islands. Results: The incidence of birth defects was 14. 43%e, there was no significant difference in the incidence of birth defects between local and mobile; the first ten diseases of birth defects were congenital heart disease, cleft lip with palate and vice ear and so on. Conclusion: The relevant departments should establish the mechanism of tertiary prevention of birth defects and make various measures to reduce the incidence of birth defects.

  7. Retinoblastoma pathway defects show differential ability to activate the constitutive DNA damage response in human tumorigenesis

    DEFF Research Database (Denmark)

    Tort, F.; Bartkova, J.; Sehested, M.

    2006-01-01

    activation. Here, we show that, in a series of human colorectal adenomas, those with deregulation of cyclin D1 and/or p16(Ink4a) showed little evidence of constitutive DNA damage response (DDR), contrary to cyclin E-overexpressing higher-grade cases. These observations were consistent with diverse cell...... culture models with differential defects of retinoblastoma pathway components, as overexpression of cyclin D1 or lack of p16(Ink4a), either alone or combined, did not elicit detectable DDR. In contrast, inactivation of pRb, the key component of the pathway, activated the DDR in cultured human or mouse...

  8. Biomaterials for promoting periodontal regeneration in human intrabony defects: a systematic review.

    Science.gov (United States)

    Sculean, Anton; Nikolidakis, Dimitris; Nikou, George; Ivanovic, Aleksandar; Chapple, Iain L C; Stavropoulos, Andreas

    2015-06-01

    Intrabony periodontal defects are a frequent complication of periodontitis and, if left untreated, may negatively affect long-term tooth prognosis. The optimal outcome of treatment in intrabony defects is considered to be the absence of bleeding on probing, the presence of shallow pockets associated with periodontal regeneration (i.e. formation of new root cementum with functionally orientated inserting periodontal ligament fibers connected to new alveolar bone) and no soft-tissue recession. A plethora of different surgical techniques, often including implantation of various types of bone graft and/or bone substitutes, root surface demineralization, guided tissue regeneration, growth and differentiation factors, enamel matrix proteins or various combinations thereof, have been employed to achieve periodontal regeneration. Despite positive observations in animal models and successful outcomes reported for many of the available regenerative techniques and materials in patients, including histologic reports, robust information on the degree to which reported clinical improvements reflect true periodontal regeneration does not exist. Thus, the aim of this review was to summarize, in a systematic manner, the available histologic evidence on the effect of reconstructive periodontal surgery using various types of biomaterials to enhance periodontal wound healing/regeneration in human intrabony defects. In addition, the inherent problems associated with performing human histologic studies and in interpreting the results, as well as certain ethical considerations, are discussed. The results of the present systematic review indicate that periodontal regeneration in human intrabony defects can be achieved to a variable extent using a range of methods and materials. Periodontal regeneration has been observed following the use of a variety of bone grafts and substitutes, guided tissue regeneration, biological factors and combinations thereof. Combination approaches appear to

  9. Department of Defense Birth and Infant Health Registry: Annual Report on Birth Defects Among Infants Born to U.S. Military Families, January 1, 2000 Through December 31, 2000

    Science.gov (United States)

    2005-03-01

    745.4 Ventricular septal defect 745.5 Atrial septal defect 745.6 Endocardial cushion defects 746.01-746.02 Pulmonary valve...left heart syndrome 747.0 Patent ductus arteriosus 747.1 Coarctation of aorta 747.3 Anomalies of pulmonary artery Resp Respiratory...Biliary atresia Male Male Reproductive 752.6 Hypospadias, epispadias Urinary Urinary 753.0 Renal agenesis /dysgenesis 753.2/753.6 Obstructive

  10. Human oocytes. Error-prone chromosome-mediated spindle assembly favors chromosome segregation defects in human oocytes.

    Science.gov (United States)

    Holubcová, Zuzana; Blayney, Martyn; Elder, Kay; Schuh, Melina

    2015-06-05

    Aneuploidy in human eggs is the leading cause of pregnancy loss and several genetic disorders such as Down syndrome. Most aneuploidy results from chromosome segregation errors during the meiotic divisions of an oocyte, the egg's progenitor cell. The basis for particularly error-prone chromosome segregation in human oocytes is not known. We analyzed meiosis in more than 100 live human oocytes and identified an error-prone chromosome-mediated spindle assembly mechanism as a major contributor to chromosome segregation defects. Human oocytes assembled a meiotic spindle independently of either centrosomes or other microtubule organizing centers. Instead, spindle assembly was mediated by chromosomes and the small guanosine triphosphatase Ran in a process requiring ~16 hours. This unusually long spindle assembly period was marked by intrinsic spindle instability and abnormal kinetochore-microtubule attachments, which favor chromosome segregation errors and provide a possible explanation for high rates of aneuploidy in human eggs.

  11. Comparison of multiple vertebrate genomes reveals the birth and evolution of human exons.

    Science.gov (United States)

    Zhang, Xiang H-F; Chasin, Lawrence A

    2006-09-05

    Orthologous gene structures in eight vertebrate species were compared on a genomic scale to detect the birth and maturation of new internal exons during the course of evolution. We found that 40% of new human exons are alternatively spliced, and most of these are cassette exons (exons that are either included or skipped in their entirety) with low inclusion rates. This proportion decreases steadily as older and older exons are examined, even as splicing efficiency increases. Remarkably, the great majority of new cassette exons are composed of highly repeated sequences, especially Alu. Many new cassette exons are 5' untranslated exons; the proportion that code for protein increases steadily with age. New protein-coding exons evolve at a high rate, as evidenced by the initially high substitution rates (K(s) and K(a)), as well as the SNP density compared with older exons. This dynamic picture suggests that de novo recruitment rather than shuffling is the major route by which exons are added to genes, and that species-specific repeats could play a significant role in recent evolution.

  12. 开封市出生缺陷影响因素病例对照研究%Case-control study on influencing factors of perinatal birth defects in Kaifeng city

    Institute of Scientific and Technical Information of China (English)

    王珊; 潘新娟; 余增丽

    2013-01-01

    [目的] 探讨开封市围产儿出生缺陷的影响因素,为出生缺陷干预提供科学依据. [方法] 2006年10月-2011年10月开封市468例出生缺陷儿的产妇为病例组,同一医院随机抽取646例于同时期分娩正常新生儿的产妇为对照组,进行回顾性调查,用单因素与多因素Logistic回归分析筛选出生缺陷的主要影响因素. [结果] 研究因素中,有12个影响因素的发生率病例组与对照组的差异有统计学意义(P<0.05),其中危险因素是7个,保护因素5个;对单因素分析中有统计学意义的变量进行多因素Logistic回归分析,其中,婚前体检(OR=0.65),经常食用鱼虾肉蛋类、牛奶豆类等优质蛋白类食物(OR=0.59)为出生缺陷的保护性因素;而母亲吸烟饮酒(OR=2.02)、母亲致畸因素接触史(OR=1.63)、孕育期用药(OR=4.23)、孕育期接触有害物质(OR=13.26)、居住地有污染源(OR=10.23)等5个因素为出生缺陷的危险因素. [结论] 母亲吸烟饮酒、母亲致畸因素接触史、孕育期用药、孕育期接触有害物质、居住地有污染源等因素为出生缺陷的主要危险因素.减少和控制孕期主要危险因素是预防出生缺陷的重要环节.%[Objective] To explore the influencing factors of perinatal birth defect,and provide scientific basis for intervention. [Methods] 468 perinatal birth defects infants were selected as case group,and 646 normal infants as control group. According to the birth date and sex matching principle,Logistic regression was used to analysis muti-factor. [Re-sults] Regular intake of fish,shrimp,meat,eggs,milk and beans during pregnancy(OR=0. 59) participating in pre-marital medical examination(OR = 0. 65) were the protective factors of birth defects. The habit of smoking and drinking(OR = 2. 02) , the history of mother exposure to teratogenic factors(OR= 1. 63) ,medication during pregnancy(OR = 4. 23) .exposure to harmful substances during pregnancy(OR = 13. 26

  13. Survey of knowledge, attitudes and practice of preventing birth defects in married reproduction women%已婚育龄妇女预防出生缺陷知识、态度和行为的调查

    Institute of Scientific and Technical Information of China (English)

    洪己东; 翁彦云; 徐沛金; 戴黎玫; 武英

    2015-01-01

    Objective To evaluate the effect of health education on preventing birth defects in community in terms of knowledge, attitude and practice (KAP) for married women in reproductive age. Method A self-designed general information form and a questionnaire on KAP of married women′s preventing birth defects were used to investigate the KAP among 300 married nulliparous women. Result The average rate of cognitive knowledge of birth defects was 60.8%, the average rate of cognitive behaviors was 59.2%, and the average rate of cognitive attitude was 67.4%. Conclusion In order to reduce the rate of birth defects and improve the quality of births, we should implement three-level prevention education system, enrich the health education methods to enhance the knowledge, attitude and behavior of married women.%目的:了解已婚育龄妇女预防出生缺陷知识、态度和行为情况,为制订相关的护理对策提供依据。方法采用自行设计的一般资料调查表和预防出生缺陷知识、态度和行为调查表对300名已婚育龄妇女进行调查。结果已婚育龄妇女预防出生缺陷知识平均认知率为60.8%,行为平均认知率为59.2%,态度平均认知率为67.4%。结论实施三级预防,采取多种形式的健康教育方法以提高已婚育龄妇女预防出生缺陷知识、态度和行为水平,从而降低出生缺陷率,提高出生人口的素质。

  14. Analysis on birth defect surveillance in south Xicheng District, Beijing%北京市西城南区围产儿出生缺陷监测结果分析

    Institute of Scientific and Technical Information of China (English)

    赵丽霞; 王淼

    2011-01-01

    Objective To analyze the birth defect of south Xicheng District, Beijing from 2008 to 2010, and observe the feature of the birth defect incidence. Methods Statistics and analysis of birth defect infants from 6 hospitals of south Xicheng district in Beijing were performed, 293 perinatal infants and 88 infants (induction of labour in second trimester) were found. Results The incidence of birth defect of south Xicheng district in Beijing from 2008 to 2010 was 14.51‰. There were 20190 perinatal infants, and 132 of them were dead. The mortality was 6.54‰. 25 of them were infants with birth defects. The percentage was 18. 98%. The incidence of birth defect in these 293 cases, from high to low, in turn were: congenital heart disease (3.37‰) , polysyndactyly (2.82‰) , deformity of external ear (1.04‰), syndactyly (0. 74‰) , anorectal atresia (0.45‰) , cleft lip(0.35‰) , microtia(0.35‰). Conclusion As the incidence rate of congenital heart disease and other defects were quite high, intensify health care in perinatal period should be promoted, and the level of antenatal diagnosis should be enhanced.%目的 分析北京市西城南区2008-2010年出生缺陷监测结果,了解本地区出生缺陷发生情况.方法 对2008-2010年北京市西城南区6家助产机构产科孕满28周至出生后7d的出生缺陷儿293例,以及因出生缺陷进行中期引产的胎儿88例进行出生缺陷结果分析.结果 2008-2010年北京市西城南区围产儿出生缺陷发生率为14.51‰;20190名围产儿中共132例围产儿死亡,死亡率为6.54‰,其中出生缺陷25例,占围产儿死亡的18.98%;293例出生缺陷发生率由高到低依次为先天性心脏病(3.37‰)、多指(趾)(2.82‰)、外耳其他畸形(1.04‰)、并指(0.74‰)、直肠肛门闭锁或狭窄(0.45‰)、唇裂(0.35‰)、小耳(0.35‰).结论 进一步提高产前诊断水平,增强围孕保健措施.

  15. Analysis of the trend in prevalence of birth defects in Guangxi from 2001 to 2010%2001-2010年广西壮族自治区围生儿出生缺陷分析

    Institute of Scientific and Technical Information of China (English)

    曾萼

    2012-01-01

    Objective To investigate the prevalence of birth defects and its variation from 2001 to 2010 in Guangxi.Methods According to national birth defect monitoring program,all perinatal infants in the birth defects monitoring hospitals in Guangxi from 2001 to 2010 were investigated and statistically analyzed for prevalenee of birth defects( per ten thousand),incidence rates of major birth defects,category and correlating factors.Results In recent 10 years,540 449 perinatal infants were monitored.And 10 897 cases of birth defects were identified with a prevalence rate of 201.63 per ten thousand.The main deformities were fetal edema syndrome,polydactyly,congenital heart disease,cleft lip and external ear malformation.The prevalence of birth defects among boys in the period of 2001-2010was significantly higher than that among girls and that in rural areas was significantly higher than that in the urban areas,and the differences were significant ( x2 =43.71,4.04 respectively,both P < 0.05 ).The prevalence rate of birth defects in 35 ~ age group was the highest and it was significantly higher than that in the < 20 age group,~ 25 age group,25 age group and 30 ~ age group ( x2 =9.17,41.33,58.77,29.10 respectively,all P < 0.05 ).There was an ascending tendencyin prevalence rate of birth defects in the period of 2001 and 2005,and there was a descending tendency in the period of 2005 and 2010.Conclusion Strengthening tertiary prevention measures,and improving skills of the medical wokers for prenatal diagnosis were effective measures to reduce the prevalence of birth defects.%目的 分析广西壮族自治区2001-2010年围生儿出生缺陷特征及变化趋势.方法 按照国家出生缺陷监测方案,对2001-2010年广西壮族自治区围生儿出生缺陷监测医院的围生儿进行出生缺陷监测,统计分析出生缺陷的发生率、类别和相关因素.结果 10年共监测围生儿540 449例,其中出生缺陷儿10 897例,发生率为201.63/万.出

  16. 三峡库区1386例出生缺陷鉴定结果分析%Analysis on the results of birth defects identification in 1386 cases in Three Gorges Reservoir Area

    Institute of Scientific and Technical Information of China (English)

    马明福; 李川海; 杨皓; 付新云; 李家菊; 崔蓉; 李练兵

    2012-01-01

    Objective: To provide a scientific basis for pregestational eugenics, genetic counseling, prevention, and reducing the recurrent risk of birth defects by understanding and grasping the current situations of birth defects and genetics, types, pathogenesis, and areal distribution in Three Gorges Reservoir area. Methods: The research objects received physical examination on the spot, assistant examination was performed; birth defects of the cases were identified and diagnosed definitely. Results; A total of 5 462 cases were identified, 75 kinds of birth defects were diagnosed definitely in 1 386 cases, the incidence of birth defects was 25. 38%. Among the cases with birth defects, 378 cases were found with monogenic inheritable diseases (38 kinds) , accounting for 27. 27% ; 146 cases were found with autosomal dominant inheritable diseases (18 kinds) , accounting for 10." 53% ; 130 cases were found with autosomal recessive dominant inheritable diseases (14 kinds) , accounting for 9. 38% ; 44 cases were found with X-linked dominant inheritable diseases (3 kinds) , accounting for 3. 17% ; 58 cases were found with X — linked recessive inheritable diseases (3 kinds) , accounting for 4. 18%. A total of 20 kinds of poly-genic inheritable diseases were diagnosed in 856 cases, accounting for 61. 76% of the total incidence. A total of 87 cases were found with chromosomal inheritance diseases (4 kinds) , accounting for 6. 28% of the total incidence. A total of 65 cases with other birth defects were found, accounting for 4. 69% of the total incidence. Conclusion: Many types of diseases were involved into birth defects in Three Gorges Reservoir Area; in order to prevent birth defects and reduce the incidences of birth defects, pregestational eugenics and health education, genetic counseling should be carried out actively, pregestational examination, prenatal screening and diagnosis should be strengthened.%目的:通过了解和掌握重庆所属三峡库区区县的出生缺陷

  17. 0~1岁婴儿出生缺陷的流行病学调查%Research on the epidemiology of birth defect for infants aged 0~1

    Institute of Scientific and Technical Information of China (English)

    肖德卫; 骆艳; 贺赞群; 刘树青

    2016-01-01

    目的::研究可对0~1岁婴儿出生缺陷产生影响的流行病学调查.方法:随机选取5394例我市2014.4-2015.4出生的婴儿,所有婴儿在进行研究调查时均为0~1岁,对婴儿一般资料进行收集,将有出生缺陷的婴儿设为 A组,将无出生缺陷的婴儿设为 B组,采用 Logistic回归分析探讨对婴儿出生缺陷的影响因素.结果:所有本文选取的5394例婴儿中,在出生后立即检查出出生缺陷的婴儿有117例,在随后的调查以及随访工作中发现出生缺陷的9例,共126例(A组),占比为2.34%,另B组无出生缺陷的婴儿为5268例(97.66%).A、B两组婴儿在性别、体重、孕母孕期服用叶酸、维生素、微量元素情况、家庭成员吸烟酗酒情况方面存在较大差异(P<0.05).将上诉有差异资料带入 Logistic回归方程中计算,结果发现,出生性别、体重、孕母孕期服用叶酸、维生素、微量元素情况、家庭成员吸烟酗酒情况均是婴儿出生缺陷的影响因素.结论孕妇孕期服用适量维生素、叶酸以及微量元素,对体重过低的新生儿进行焊钳检查,对孕妇进行孕期营养摄入的相关健康宣教,以上这些措施均可有效改善新生儿缺陷.%Objective:To conduct the epidemiology research of birth defect for infants aged 0~1.Method:5394 infants (aged 0~1)delivered from A-pril 2014 to April 2015 in our city were selected.The general data was collected.The infants with birth defect were selected as Group A;the infants without birth defect were selected as Group B.Through the Logistic regression equation,the influence factors of birth defects were analyzed.Result:For 5394 infants,there were 117 cases with birth defects;during the follow-up visits,there were 9 additional cases with birth defects.There were 126 cases with birth defects in total (Group A)(2.34%);Group B had 5268 cases without birth defects (97.66%).The infant’s gender and weight

  18. Use and influence of Delivery and Birth Plans in the humanizing delivery process

    Directory of Open Access Journals (Sweden)

    María Suárez-Cortés

    2015-06-01

    Full Text Available OBJECTIVES: get to know, analyze and describe the current situation of the Delivery and Birth Plans in our context, comparing the delivery and birth process between women who presented a Delivery and Birth Plan and those who did not.METHOD: quantitative and cross-sectional, observational, descriptive and comparative cohort study, carried out over two years. All women who gave birth during the study period were selected, including 9303 women in the study.RESULTS: 132 Delivery and Birth Plans were presented during the first year of study and 108 during the second. Among the variables analyzed, a significant difference was found in "skin to skin contact", "choice of dilation and delivery posture", "use of enema", "intake of foods or fluids", "eutocic deliveries", "late clamping of the umbilical cord" and "perineal shaving".CONCLUSIONS: the Delivery and Birth Plans positively influence the delivery process and its outcome. Health policies are needed to increase the number of Delivery and Birth Plans in our hospitals.

  19. Analysis of perinatal birth defects monitoring results in Gansu province from 2001 to 2008%甘肃省2001年~2008年围产儿出生缺陷监测结果分析

    Institute of Scientific and Technical Information of China (English)

    丁秀琴; 郭瑛泉; 张玲; 廖丽萍

    2011-01-01

    Objective: To discuss the trend of birth defects incidence, species and changes in Gansu province, in order to provide evidence for preventive measure.Methods: According to Chinese Birth Defects Monitoring Program and Maternal and child health surveillance program in Gansu Province, to monitor perinatal birth in 43 hospitals in Gansu province from 2001 to 2008.Results:( 1 ) In 8 years, the birth defects average incidence is 11.043 per thousand, its trend began go up in 2004, but there is no statistical difference between every years.(2) And the birth defects average incidence no statistical difference between boys and girls ( P >0.05 ); The pregnant motheres age distribution characterized with "two side high and middle low", the lowest incidence (5.9 -9.7 per thousand ) is at 25 - 29 years age group, higher in country than in city ( P < 0.05 ).( 3 ) In 8 years, most common birth defects were neural tube defects, congenital hydrocephalus, cleftlip, talipes equinovarus, limb shorten, polydactyly and congenital heart disease.Neural tube defects and congenital hydrocephalus were always in first there birth defects in Gansu province.Conclusion: Neural tube defects, congenital hydrocephalus, cleftlip are high incidence in all birth defects, which are result of genetic or environmental factors, or interaction of both.Prevention is preior to therapy.Aiming at high detection rate of birth defects, to establish effective administrative intervention and medical care meature.%目的 探讨甘肃省出生缺陷的发生率、种类及变化趋势,为预防措施的制定提供依据.方法 按<中国出生缺陷监测方案>及<甘肃省妇幼卫生监测方案>,对甘肃省2001年~2008年间在43家监测医院住院分娩的围产儿进行监测.结果 (1)8年间的出生缺陷发生率平均为110.43/万,2004年起有明显上升趋势,各年份间出生缺陷发生率无显著的统计学差异.(2)胎儿性别间出生缺陷发生率

  20. Clinical evaluation of bioactive glass in the treatment of periodontal osseous defects in humans.

    Science.gov (United States)

    Lovelace, T B; Mellonig, J T; Meffert, R M; Jones, A A; Nummikoski, P V; Cochran, D L

    1998-09-01

    The purpose of this study was to compare the use of bioactive glass to demineralized freeze-dried bone allograft (DFDBA) in the treatment of human periodontal osseous defects. Fifteen systemically healthy patients (6 males and 9 females, aged 30 to 63) with moderate to advanced adult periodontitis were selected for the study. All patients underwent initial therapy, which included scaling and root planing, oral hygiene instruction, and an occlusal adjustment when indicated, followed by re-evaluation 4 to 6 weeks later. Paired osseous defects in each subject were randomly selected to receive grafts of bioactive glass or DFDBA. Both soft and hard tissue measurements were taken the day of surgery (baseline) and at the 6-month re-entry surgery. The clinical examiner was calibrated and blinded to the surgical procedures, while the surgeon was masked to the clinical measurements. Statistical analysis was performed by using the paired Student's t test. The results indicated that probing depths were reduced by 3.07 +/- 0.80 mm with the bioactive glass and 2.60 +/- 1.40 mm with DFDBA. Sites grafted with bioactive glass resulted in 2.27 +/- 0.88 mm attachment level gain, while sites grafted with DFDBA had a 1.93 +/- 1.33 mm gain in attachment. Bioactive glass sites displayed 0.53 +/- 0.64 mm of crestal resorption and 2.73 mm bone fill. DFDBA-grafted sites experienced 0.80 +/- 0.56 mm of crestal resorption and 2.80 mm defect fill. The use of bioactive glass resulted in 61.8% bone fill and 73.33% defect resolution. DFDBA-grafted defects showed similar results, with 62.5% bone fill and 80.87% defect resolution. Both treatments provided soft and hard tissue improvements when compared to baseline (P < or = 0.0001). No statistical difference was found when comparing bioactive glass to DFDBA; however, studies with larger sample sizes may reveal true differences between the materials. This study suggests that bioactive glass is capable of producing results in the short term (6 months

  1. Risk factors for birth defects:A community-based child survey%社区儿童的出生缺陷影响因素探讨

    Institute of Scientific and Technical Information of China (English)

    李敏; 赵丽萍; 商颖; 蔡建华; 周维谨; 车焱

    2011-01-01

    目的:了解以社区为基础的出生缺陷发生水平和有关影响因素,为出生缺陷的预防和孕期保健提供依据.方法:采用多阶段分层整群抽样方法,从我国东、中、西部地区9个中等发达省份中各抽取1个国家人口计生委信息采集抽样县,每个县抽取2个乡镇,再从中各抽取2~4个居委(村),调查其中所有已婚育龄妇女≤9岁子女的出生缺陷发生及相关信息,通过单因素分析和多元logistic回归分析,探讨出生缺陷的影响因素.结果:调查对象共3958例,出生缺陷发生率为1.80%.单因素卡方检验发现母亲产龄、文化程度、流产史、孕期微量营养素补充、产检机构与出生缺陷发生有关(P <0.05).多元logistic回归分析显示,产龄16~20岁(OR=2.53,95 % CI:1.25~5.10)、有人工流产史(OR=3.32,95% CI:1.69~6.51)、吸烟(OR=3.34,95 % CI:1.04~10.75)、孕期未补充微量元素(OR=1.84,95%CI:1.07~3.16)、在乡镇及以下机构产前检查(OR=1.70,95% CI:1.06~2.74)的母亲生育出生缺陷儿的危险较高.结论:出生缺陷预防干预应重点关注既往有人工流产史、低龄、吸烟孕妇对象,重视基层产前检查机构服务能力建设,提供优质孕期监测与营养保健咨询服务.%Objective; To explore the prevalence and risk factors for birth defects ( BD) among children in 9 provinces of China. Methods; By using stratified, random cluster sampling methods, 17 townships and 36 rural villages and urban neighbourhood were sampled from 9 provinces of China. All married women aged between 20 - 49 years old were investigated and a questionnaire survey on birth defects of their children under 9 year - old was conducted. Chi - square test and multivariate logistic regression analysis were used to evaluate the association between BD and maternal risk factors. Results: There were 3 958 respondents, and the prevalence of BD was 1.80%. Results of chi - square tests indicated that maternal age

  2. 21 CFR 110.110 - Natural or unavoidable defects in food for human use that present no health hazard.

    Science.gov (United States)

    2010-04-01

    ... 21 Food and Drugs 2 2010-04-01 2010-04-01 false Natural or unavoidable defects in food for human use that present no health hazard. 110.110 Section 110.110 Food and Drugs FOOD AND DRUG ADMINISTRATION, DEPARTMENT OF HEALTH AND HUMAN SERVICES (CONTINUED) FOOD FOR HUMAN CONSUMPTION CURRENT GOOD MANUFACTURING PRACTICE IN MANUFACTURING, PACKING,...

  3. 2003-2010年南宁市婚前保健与出生缺陷发生状况分析%Premarital Health Care and Birth Defects Situation in Nanning,2003-2010

    Institute of Scientific and Technical Information of China (English)

    李颖; 龚祖康; 覃颛; 李芳

    2011-01-01

    Objective To analyze the pre - marital medical examination ( PME) and birth defects situation in Nanning, improve the quality of the newbom population, and provide the theoretical evidence for formulating birth defect preventive measure scientifically. Methods The PME and birth defects situation in Nanning from 2003 to 2010 was analyzed. Results The PME rate in 2002 was 70. 66%. From 2003 to 2010, totally 1 087 060 people registrated marriage, 167 931 people had accepted PME, the average rate of PME was 15.45% ;during 2004 - 2008 the PME rate maintains between 2% to 3. 37%. Free PME was conducted since June,2009, with the PME rate of 14. 73% , and by 2010, the PME rate reached 65. 70% . The detected prevalence rate was 15. 70% . There were totaUy 10 437 birth defects during 2003 - 2010, the incidence rate was 16. 24 ‰, in which fetal edema syndrome ( thalassemia children) ranked frist Birth defects rate in 2002 was 14.73‰, and in 2010 was 18. 72‰. Conclusion The PME rate in Nanning during 2003 - 2008 was low, which increased after implementation of free PME. PME has the positive sense to reduce the birth defects rate.%目的 分析南宁市婚前医学检查(婚检)与出生缺陷发生状况,提高出生人口素质,为科学制定出生缺陷预防措施提供理论依据.方法 对2003-2010年南宁市婚检与出生缺陷发生状况进行分析.结果 2002年婚检率为70.66%.2003-2010年南宁市结婚登记人数1087 060人,婚检人数167 931人,平均婚检率15.45%;2004-2008年婚检率持续在2%~3.37%,2009-06起实施免费婚检,婚检率14.73%,2010年婚检率达65.70%.检出患病率15.70%.2003-2010年出生缺陷儿共10 437人,发生率16.24 ‰,胎儿水肿综合症(地贫儿)排列出生缺陷第1位,2002年出生缺陷为14.73‰,2010年出生缺陷率18.72‰.结论 2003-2008年南宁市婚检率较低,免费婚检后高婚检率上升,婚检对降低出生缺陷有积极意义.

  4. Human birth seasonality: latitudinal gradient and interplay with childhood disease dynamics

    OpenAIRE

    Martinez-Bakker, Micaela; Bakker, Kevin M.; King, Aaron A.; Rohani, Pejman

    2014-01-01

    More than a century of ecological studies have demonstrated the importance of demography in shaping spatial and temporal variation in population dynamics. Surprisingly, the impact of seasonal recruitment on infectious disease systems has received much less attention. Here, we present data encompassing 78 years of monthly natality in the USA, and reveal pronounced seasonality in birth rates, with geographical and temporal variation in both the peak birth timing and amplitude. The timing of ann...

  5. Human birth seasonality: latitudinal gradient and interplay with childhood disease dynamics.

    Science.gov (United States)

    Martinez-Bakker, Micaela; Bakker, Kevin M; King, Aaron A; Rohani, Pejman

    2014-05-22

    More than a century of ecological studies have demonstrated the importance of demography in shaping spatial and temporal variation in population dynamics. Surprisingly, the impact of seasonal recruitment on infectious disease systems has received much less attention. Here, we present data encompassing 78 years of monthly natality in the USA, and reveal pronounced seasonality in birth rates, with geographical and temporal variation in both the peak birth timing and amplitude. The timing of annual birth pulses followed a latitudinal gradient, with northern states exhibiting spring/summer peaks and southern states exhibiting autumn peaks, a pattern we also observed throughout the Northern Hemisphere. Additionally, the amplitude of United States birth seasonality was more than twofold greater in southern states versus those in the north. Next, we examined the dynamical impact of birth seasonality on childhood disease incidence, using a mechanistic model of measles. Birth seasonality was found to have the potential to alter the magnitude and periodicity of epidemics, with the effect dependent on both birth peak timing and amplitude. In a simulation study, we fitted an susceptible-exposed-infected-recovered model to simulated data, and demonstrated that ignoring birth seasonality can bias the estimation of critical epidemiological parameters. Finally, we carried out statistical inference using historical measles incidence data from New York City. Our analyses did not identify the predicted systematic biases in parameter estimates. This may be owing to the well-known frequency-locking between measles epidemics and seasonal transmission rates, or may arise from substantial uncertainty in multiple model parameters and estimation stochasticity.

  6. Five Facts about Congenital Heart Defects

    Science.gov (United States)

    ... Button Past Emails CDC Features Five Facts about Congenital Heart Defects Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir Congenital heart defects are the most common types of birth defects. ...

  7. 宜昌市城区2008~2010年医院出生缺陷补漏调查%Investigation on the mend Leakage on the birth defects in Yichang between 2008 and 2010

    Institute of Scientific and Technical Information of China (English)

    周小葵

    2012-01-01

    OBJECTIVE To understand the omissions and quality of report card on the birth defects in Yichang city between 2008 and 2010. METHODS We investigated the omissions and quality of report card on the birth defects in midwifery agency of Yichang city on the basis of the National monitoring project of health of mothers and children. RESULTS The leakage rate was 7.49%, and the mistaking rate was 1.26% in the tables and cards. The two rates decreased year by year. CONCLUSION The fundamental guarantee of improving the quality of monitoring in the birth defects was the strengthening of management and supervision , and the raising responsibility of medical staff.%目的 了解宜昌市城区2008~2010年医院出生缺陷漏报及报告卡质量情况.方法 根据《全国妇幼卫生监测方案》对出生缺陷监测质量的要求,对城区各助产机构出生缺陷漏报及报告卡质量情况进行调查.结果 2008~2010年宜昌市城区医院出生缺陷漏报率平均达7.49%;表、卡填写差错率平均达1.26%.漏报率和差错率都有逐年下降趋势.结论 加强管理,坚持督导,提高医务人员责任心,是提高出生缺陷监测质量的根本保证.

  8. Human cadaveric dermal matrix for management of challenging surgical defects on the scalp.

    Science.gov (United States)

    Stebbins, William G; Hanke, C William; Petersen, Jeffrey

    2011-03-01

    Biologic scaffolds have shown promise in patients unable to tolerate prolonged surgical closure or extensive wound care, but there has been little research in the field of Mohs micrographic surgery (MMS) on human cadaveric dermis in this capacity. To evaluate the utility of human cadaveric dermis as a means of decreasing operative time, minimizing postoperative wound care, and improving aesthetic outcomes in selected patients with deep surgical defects, including those with exposed bone. Fourteen patients (8 men, 6 women) with deep postoperative defects after MMS were treated with a cadaveric dermal allograft as part or all of their postoperative wound management. Allograft placement was well tolerated, with high satisfaction levels relating to minimal postoperative wound care and aesthetic outcome. Significantly shorter operative times were noted in all patients than with primary closure or grafting. In patients with significant comorbidities, inability to tolerate extended surgical repairs, or inability to perform extensive wound care, human cadaveric dermal allografts can decrease operative time and minimize wound care complexity while providing an excellent aesthetic outcome in many cases. Shorter healing times than expected were also noted in a number of patients. The authors have indicated no significant interest with commercial supporters. © 2011 by the American Society for Dermatologic Surgery, Inc.

  9. GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling

    Science.gov (United States)

    Kodo, Kazuki; Nishizawa, Tsutomu; Furutani, Michiko; Arai, Shoichi; Yamamura, Eiji; Joo, Kunitaka; Takahashi, Takao; Matsuoka, Rumiko; Yamagishi, Hiroyuki

    2009-01-01

    Congenital heart diseases (CHD) occur in nearly 1% of all live births and are the major cause of infant mortality and morbidity. Although an improved understanding of the genetic causes of CHD would provide insight into the underlying pathobiology, the genetic etiology of most CHD remains unknown. Here we show that mutations in the gene encoding the transcription factor GATA6 cause CHD characteristic of a severe form of cardiac outflow tract (OFT) defect, namely persistent truncus arteriosus (PTA). Two different GATA6 mutations were identified by systematic genetic analysis using DNA from patients with PTA. Genes encoding the neurovascular guiding molecule semaphorin 3C (SEMA3C) and its receptor plexin A2 (PLXNA2) appear to be regulated directly by GATA6, and both GATA6 mutant proteins failed to transactivate these genes. Transgenic analysis further suggests that, in the developing heart, the expression of SEMA3C in the OFT/subpulmonary myocardium and PLXNA2 in the cardiac neural crest contributing to the OFT is dependent on GATA transcription factors. Together, our data implicate mutations in GATA6 as genetic causes of CHD involving OFT development, as a result of the disruption of the direct regulation of semaphorin-plexin signaling. PMID:19666519

  10. Visual Field Defects and Retinal Ganglion Cell Losses in Human Glaucoma Patients

    Science.gov (United States)

    Harwerth, Ronald S.; Quigley, Harry A.

    2007-01-01

    Objective The depth of visual field defects are correlated with retinal ganglion cell densities in experimental glaucoma. This study was to determine whether a similar structure-function relationship holds for human glaucoma. Methods The study was based on retinal ganglion cell densities and visual thresholds of patients with documented glaucoma (Kerrigan-Baumrind, et al.) The data were analyzed by a model that predicted ganglion cell densities from standard clinical perimetry, which were then compared to histologic cell counts. Results The model, without free parameters, produced accurate and relatively precise quantification of ganglion cell densities associated with visual field defects. For 437 sets of data, the unity correlation for predicted vs. measured cell densities had a coefficient of determination of 0.39. The mean absolute deviation of the predicted vs. measured values was 2.59 dB, the mean and SD of the distribution of residual errors of prediction was -0.26 ± 3.22 dB. Conclusions Visual field defects by standard clinical perimetry are proportional to neural losses caused by glaucoma. Clinical Relevance The evidence for quantitative structure-function relationships provides a scientific basis of interpreting glaucomatous neuropathy from visual thresholds and supports the application of standard perimetry to establish the stage of the disease. PMID:16769839

  11. Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm†

    Science.gov (United States)

    Navarro-Costa, Paulo; Nogueira, Paulo; Carvalho, Marta; Leal, Fernanda; Cordeiro, Isabel; Calhaz-Jorge, Carlos; Gonçalves, João; Plancha, Carlos E.

    2010-01-01

    BACKGROUND Successful gametogenesis requires the establishment of an appropriate epigenetic state in developing germ cells. Nevertheless, an association between abnormal spermatogenesis and epigenetic disturbances in germline-specific genes remains to be demonstrated. METHODS In this study, the DNA methylation pattern of the promoter CpG island (CGI) of two germline regulator genes—DAZL and DAZ, was characterized by bisulphite genomic sequencing in quality-fractioned ejaculated sperm populations from normozoospermic (NZ) and oligoasthenoteratozoospermic (OAT) men. RESULTS OAT patients display increased methylation defects in the DAZL promoter CGI when compared with NZ controls. Such differences are recorded when analyzing sperm fractions enriched either in normal or defective germ cells (P< 0.001 in both cases). Significant differences in DNA methylation profiles are also observable when comparing the qualitatively distinct germ cell fractions inside the NZ and OAT groups (P= 0.003 and P= 0.007, respectively). Contrastingly, the unmethylation pattern of the DAZ promoter CGI remains correctly established in all experimental groups. CONCLUSIONS An association between disrupted DNA methylation of a key spermatogenesis gene and abnormal human sperm is described here for the first time. These results suggest that incorrect epigenetic marks in germline genes may be correlated with male gametogenic defects. PMID:20685756

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

    Science.gov (United States)

    Reynolds, Megan R; Jones, Abbey M; Petersen, Emily E; Lee, Ellen H; Rice, Marion E; Bingham, Andrea; Ellington, Sascha R; Evert, Nicole; Reagan-Steiner, Sarah; Oduyebo, Titilope; Brown, Catherine M; Martin, Stacey; Ahmad, Nina; Bhatnagar, Julu; Macdonald, Jennifer; Gould, Carolyn; Fine, Anne D; Polen, Kara D; Lake-Burger, Heather; Hillard, Christina L; Hall, Noemi; Yazdy, Mahsa M; Slaughter, Karnesha; Sommer, Jamie N; Adamski, Alys; Raycraft, Meghan; Fleck-Derderian, Shannon; Gupta, Jyoti; Newsome, Kimberly; Baez-Santiago, Madelyn; Slavinski, Sally; White, Jennifer L; Moore, Cynthia A; Shapiro-Mendoza, Carrie K; Petersen, Lyle; Boyle, Coleen; Jamieson, Denise J; Meaney-Delman, Dana; 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

  13. Study of incidence and influencing factors of birth defect among perinatal infants in Tianhe District, Guangzhou%广州市天河区出生缺陷相关因素的病例对照研究

    Institute of Scientific and Technical Information of China (English)

    李绚; 赵晓骁; 陈温容

    2014-01-01

    目的:了解广州市天河区以医院为基础的围产儿出生缺陷发生水平及相关危险因素,为出生缺陷的干预提供科学依据。方法:以2011年10月1日至2012年9月30日在广州市天河区16家医院分娩或引产的孕28周至产后7 d的围产期出生缺陷患儿作为病例组,以1∶1配对方式选择同期在同一家医院分娩的正常新生儿作为对照组,对家长进行问卷调查,采用多因素Logistic回归分析筛选出生缺陷的危险因素。结果:出生缺陷发生率18.47‰,前3位出生缺陷依次为先天性心脏病、多指(趾)、唇裂。多因素Logistic回归分析显示,孕期放射线接触史(OR=2.205,95%CI:1.178~3.481,P=0.011)、孕期吸烟(OR=1.899,95%CI:1.270~2.839,P=0.002)、母亲先天性疾病史( OR=2.124,95%CI:1.243~3.629,P=0.006)、孕出生缺陷儿史(OR=3.893,95%CI:2.319~6.535,P<0.001)是出生缺陷的危险因素;孕期经常摄入优质蛋白(OR=0.874,95%CI:0.768~0.994,P=0.040)是出生缺陷的保护因素。结论:减少和控制孕期主要危险因素是预防出生缺陷的重要环节。%Objective:To explore the incidence and risk factors for birth defect among hospital-based perinatal infants and to provide scientific basis for intervention of birth defects .Methods:Perinatal infants in 16 hospitals in Tianhe District from October 2011 to September 2012 were selected as case group and normal newborn selected from same period and same hospital as control group , birth defect risk factors were analysed by multivariate Logistic regression .Results:Incidence of birth defects was 18.47‰, the former three birth defects were congenital heart disease, multi-finger(toe), cleft lip.Logistic regression analysis showed that the history of radiation exposure during pregnancy (OR=2.205,95%CI:1.178~3.481,P=0.011), smoking during pregnancy (OR=1.899, 95%CI:1.270 ~2

  14. 武汉地区1137例独生子女病残儿出生缺陷病种分析%Analize the disease of birth defect in 1137 cases of the one-child in wuhan

    Institute of Scientific and Technical Information of China (English)

    占丽娜

    2011-01-01

    目的 通过近l0年来武汉市独生子女病残儿鉴定出生缺陷情况分析,探讨减少出生缺陷疾病再发生的防治措施.方法 武汉市辖区中申请病残儿鉴定的独生子女,资料进行审查和分析,经现场体检及相关的辅助检查,专家对疾病作出鉴定结论并进行归类.结果 诊断为出生缺陷441例,占38.78%.其中遗传性疾病34种346例(78.45%),非遗传性疾病27种95例(21.06%),以神经系统为主.结论 出生缺陷涉及病种多,病因复杂,应根据不同原因引起的出生缺陷,寻找对应的防治措施.%Objective: To discuss the preventive treatment of reducing the birth defect by analizing the information of the disablement child of the one-child in the recent ten years. Methods: Analize and reviewed the information of the disablement child of the one-child , and classified them by the medical examination and the relevant supplementary examination. Results: There were 441 cases of birth defects in the 1137 cases of the one-child, which were accounts for 38. 78%. In those the hereditary diseases were 346 caess (78.45% ), which the diseases species were 34. And inhereditary diseases were 27, which mained in the nervous system. Conclusion: The diseases species is many as the causes is complicated in birth defects. Looking for the preventive and treat measures should according to different causes of birth defects,

  15. Analysis of the Monitoring Results of Perinatal Birth Defects and Related Risk Factors%围产儿出生缺陷及相关危险因素分析

    Institute of Scientific and Technical Information of China (English)

    余灵辉; 李海燕; 曹登成

    2016-01-01

    [Objective]To investigate the occurrence of birth defects in perinatal infants and to analyze the related risk factors .[Methods]From March 2011 to March 2015 ,110 cases of perinatal birth defect that occurred in our hos‐pital were selected as the observation group .According to 1:3 matching principle ,330 cases of normal newborn at the same time were regarded as the controls .Clinical data of birth defects were retrospectively analyzed ,and the possible factors associated with birth defects were evaluated by Logistic univariate and multivariate analysis .[Results]Com‐pared with the control group ,the proportion of high education ,high per capita income level ,and urban residence were lower in the observation group;the difference was statistically significant ( P < 0 .05 ) .Univariate analysis showed that smoking or alcohol drinking ,fever ,complications of pregnancy ,medication ,parity (counts of pregnancy and delivery) ,physical labor during pregnancy ,violence and chemical or X‐ray exposure ,adverse pregnancy history , and history of mental illness are risk factors for birth defects ,while pregnancy and premarital examinations ,good nu‐tritional condition ,and the use of folic acid are protective factors .Multivariate analysis also showed that the use of pregnancy and premarital tests were protective factors for birth defects ,while pregnancy complications ,exposure to chemicals or x‐ray ,and smoking or drinking alcohol were independent risk factors of birth defects and were statistical‐ly significant ( P <0 0.5) .[Conclusion]Birth defect is attributed to many factors .By means of advocating call for pre‐marital examination , pregnancy check‐up , reducing exposure to chemicals and other harmful substances in the periconceptional period and the occurrence of pregnancy complications ,the occurrence of birth defects can be reduced .%【目的】探讨围产儿出生缺陷的发生情况并分析与其相关的危险因素。【方法】选取2011

  16. The impact of thickness of resorbable membrane of human origin on the ossification of bone defects: A pathohistologic study

    Directory of Open Access Journals (Sweden)

    Bubalo Marija

    2012-01-01

    Full Text Available Background/Aim. A wide range of resorbable and nonresorbable membranes have been investigated over the last two decades. The barrier membrane protects the defect from ingrowth of soft tissue cells and allows bone progenitor cells to develop bone within a blood clot that is formed beneath the barrier membrane. The membranes are applied to reconstruct small bony defect prior to implantation, to cover dehiscences and fenestrations around dental implants. The aim of this study was to evaluate the influence of human resorbable demineralized membrane (RHDM thickness on bone regeneration. Methods. The experiment, approved by Ethical Committee, was performed on 6 dogs and conducted into three phases. Bone defects were created in all the 6 dogs on the left side of the mandible, 8 weeks after extraction of second, third and fourth premolars. One defect was covered with RHDM 100 μ thick, one with RHDM 200 μ thick, and the third defect left empty (control defect. The histopathological analysis was done 2, 4 and 6 months after the surgery. In the third phase samples of bone tissue were taken and subjected to histopathological analysis. Results. In all the 6 dogs the defects treated with RHDM 200 μ thick showed higher level of bone regeneration in comparison with the defect treated with RHDM 100 μ thick and especially with empty defect. Conclusion. Our results demonstrated that the thicker membrane showed the least soft tissue ingrowths and promoted better bone formation at 6 months compared with a thinner one.

  17. Case-control study on physiological related factors on birth defects%生理相关因素对出生缺陷影响的病例对照研究

    Institute of Scientific and Technical Information of China (English)

    王香丽; 雷方良; 屈鹏飞; 李姗姗; 党少农

    2016-01-01

    Objective To explore the physiological related factors of birth defects .Methods A hospital based 1:2 matched case-control study was conducted among 147 cases of birth defects diagnosed in the First Affiliated Hospital of Xi ’ an Jiaotong University during the period of April 2009 to December 2013.Univariate and multivariate Logistic regression analyses were carried out to analyze the general condition, history of fertility, abnormal symptoms and disease during pregnancy .Results Univariate analysis results showed that advanced maternal age, frequent pregnancy, frequent spontaneous abortion, severe morning sickness, sickness history before and during pregnancy were the risk factors of birth defects .Multivariate Logistic regression analysis showed that severe morning sickness ( OR=2.197,95%CI:1.634-2.954), sickness before pregnancy (OR=2.089,95%CI:1.037-4.206) and during pregnancy (OR=1.562,95%CI:1.021-2.390 ) were the risk factors of birth defects .Conclusion Prenatal and perinatal health education should be strengthened .Great importance should be attached to prevent severe morning sickness and to carry out education and thorough treatment .The couples before marriage and pregnancy should be advocated to have physical examinations .Pregnancy care instruction should be provided aiming at different physical conditions of pregnant women , so as to effectively reduce the occurrence of birth defects and improve the birth quality .%目的:探讨出生缺陷的生理相关危险因素。方法收集2009年4月至2013年12月在西安交通大学第一附属医院诊断为出生缺陷的患儿147例,以医院为基础的1:2匹配病例对照研究,对产妇的一般情况、既往生育史、孕期异常状况及患病情况等资料,使用单因素分析和多因素条件Logistic回归进行比较分析。结果经单因素分析显示,高龄产妇、怀孕次数多、自然流产次数多、早孕反应严重、孕前和孕期有疾病史均为出生缺

  18. Effect of birth weight and 12 weeks of exercise training on exercise-induced AMPK signaling in human skeletal muscle

    DEFF Research Database (Denmark)

    Mortensen, Brynjulf; Hingst, Janne Rasmuss; Frederiksen, Nicklas;

    2013-01-01

    Subjects with a low birth weight (LBW) display increased risk of developing type 2 diabetes (T2D). We hypothesized that this is associated with defects in muscle adaptations following acute and regular physical activity, evident by impairments in the exercise-induced activation of AMPK signaling....... the need for AMPK to control energy turnover during exercise. Thus, the remaining ¿3-associated AMPK activation by acute exercise after exercise training might be sufficient to maintain cellular energy balance........ We investigated 21 LBW and 21 normal birth weight (NBW) subjects during 1 hour of acute exercise performed at the same relative workload before and after 12 weeks of exercise training. Multiple skeletal muscle biopsies were obtained before and after exercise. Protein levels and phosphorylation status...... were determined by Western blotting. AMPK activities were measured using activity assays. Protein levels of AMPK isoforms a1 and ¿1 were significantly increased while ¿3 levels decreased with training independent of group. The LBW group had higher exercise-induced AMPK Thr(172) phosphorylation before...

  19. Neural and Synaptic Defects in slytherin a Zebrafish Model for Human Congenital Disorders of Glycosylation

    Energy Technology Data Exchange (ETDEWEB)

    Y Song; J Willer; P Scherer; J Panzer; A Kugath; E Skordalakes; R Gregg; G Willer; R Balice-Gordon

    2011-12-31

    Congenital disorder of glycosylation type IIc (CDG IIc) is characterized by mental retardation, slowed growth and severe immunodeficiency, attributed to the lack of fucosylated glycoproteins. While impaired Notch signaling has been implicated in some aspects of CDG IIc pathogenesis, the molecular and cellular mechanisms remain poorly understood. We have identified a zebrafish mutant slytherin (srn), which harbors a missense point mutation in GDP-mannose 4,6 dehydratase (GMDS), the rate-limiting enzyme in protein fucosylation, including that of Notch. Here we report that some of the mechanisms underlying the neural phenotypes in srn and in CGD IIc are Notch-dependent, while others are Notch-independent. We show, for the first time in a vertebrate in vivo, that defects in protein fucosylation leads to defects in neuronal differentiation, maintenance, axon branching, and synapse formation. Srn is thus a useful and important vertebrate model for human CDG IIc that has provided new insights into the neural phenotypes that are hallmarks of the human disorder and has also highlighted the role of protein fucosylation in neural development.

  20. Using Frogs Faces to Dissect the Mechanisms Underlying Human Orofacial Defects

    Science.gov (United States)

    Dickinson, Amanda J.G.

    2016-01-01

    In this review I discuss how Xenopus laevis is an effective model to dissect the mechanisms underlying orofacial defects. This species has been particularly useful in studying the understudied structures of the developing face including the embryonic mouth and primary palate. The embryonic mouth is the first opening between the foregut and the environment and is critical for adult mouth development. The final step in embryonic mouth formation is the perforation of a thin layer of tissue covering the digestive tube called the buccopharyngeal membrane. When this tissue does not perforate in humans it can pose serious health risks for the fetus and child. The primary palate forms just dorsal to the embryonic mouth and in non-amniotes it functions as the roof of the adult mouth. Defects in the primary palate result in a median oral cleft that appears similar across the vertebrates. In humans, these median clefts are often severe and surgically difficult to repair. Xenopus has several qualities that make it advantageous for craniofacial research. The free living embryo has an easily accessible face and we have also developed several new tools to analyze the development of the region. Further, Xenopus is readily amenable to chemical screens allowing us to uncover novel gene-environment interactions during orofacial development, as well as to define underlying mechanisms governing such interactions. In conclusion, we are utilizing Xenopus in new and innovative ways to contribute to craniofacial research. PMID:26778163

  1. Study on prenatal screening of birth defect and fetal chromosomal abnormality%产前筛查先天性缺陷与胎儿染色体异常的研究

    Institute of Scientific and Technical Information of China (English)

    钟可文; 陈朝轩; 潘景良; 张应华

    2011-01-01

    Objective; To explore the junction and value of serum markers during the second trimester of pregnancy in prenatal screening of birth defect and fetal chromosomal abnormality. Methods; The serum levels of alpha fetal protein ( AFT), β - human chorionic gonadotropin ( β - HCC) and unconjugated eslriol among 2 555 pregnant women during the second trimester of pregnancy (14-22 gestation-al weeks) were detected, then risk probability was calculated combining maternal age, gestational weeks, body weight, twin pregnancy or not, diabetes mellitus or not on software; the high risk pregnant women were defined by chromosomal examination. Results; Among 2 555 pregnant women, 210 pregnant women were found with high risk of Downs syndrome, accounting for 8. 2% ; 26 pregnant women were found with high risk of trisomy 18 syndrome, accounting for 1.0% ; 29 pregnant women were found with high risk of neural tube defect, accounting for 1. 1%. Among the high risk pregnant women, 207 pregnant women received chromosomal examination of amniotic fluid cells or chromosomal examination of fetal umbilical cord blood, 12 pregnant women were found with abnormal chromosomal karyotype, the abnormal rate was 5. 8%. Conclusion; Triple markers screening during the second trimester of pregnancy is an effective method to screen fetal congenital defects, which can be used as a conventional method for prenatal screening.%目的:探讨孕中期血清标志物在产前筛查先天性缺陷与胎儿染色体异常中的作用和价值.方法:对2 555例孕中期(14 ~22周)孕妇血清AFP、β- hCG、和uE3三项指标进行检测,并结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病等,采用仪器配套软件计算风险概率,对高风险孕妇进行染色体检查确认.结果:2 555例孕妇中筛查出唐氏综合征高风险210例,占8.2%,18-三体高风险26例,占1.0%,NTD高风险29例,占1.1%,高风险孕妇中有207例自愿进行了羊水细胞染色体检查或胎

  2. Retinoblastoma pathway defects show differential ability to activate the constitutive DNA damage response in human tumorigenesis

    DEFF Research Database (Denmark)

    Tort, F.; Bartkova, J.; Sehested, M.

    2006-01-01

    Loss of G(1)-S control and aberrations of the p16(Ink4a)-cyclin D1/cyclin-dependent kinase (CDK) 4(6)-pRb-E2F-cyclin E/CDK2 pathway are common in human cancer. Previous studies showed that oncogene-induced aberrant proliferation, such as on cyclin E overexpression, causes DNA damage and checkpoint...... culture models with differential defects of retinoblastoma pathway components, as overexpression of cyclin D1 or lack of p16(Ink4a), either alone or combined, did not elicit detectable DDR. In contrast, inactivation of pRb, the key component of the pathway, activated the DDR in cultured human or mouse...... cells, analogous to elevated cyclin E. These results highlight differential effect of diverse oncogenic events on driving the 'cancer cell cycles' and their ability to deregulate the replication-driving CDK2 kinase and to alarm the DDR as a potential anticancer barrier in accordance...

  3. Uterus transplantation: From animal models through the first heart beating pregnancy to the first human live birth.

    Science.gov (United States)

    Ozkan, Omer; Dogan, Nasuh Utku; Ozkan, Ozlenen; Mendilcioglu, Inanc; Dogan, Selen; Aydinuraz, Batu; Simsek, Mehmet

    2016-07-01

    Absolute uterine factor infertility affects 3-5% of the general population, and unfortunately this condition is untreatable. There are some available options, including surrogacy or adoption, but neither of these suits each and every woman who desires to have her own genetic child. With recent advances in surgery and transplant immunology, uterus transplantation may be a source of hope for these women with uterine infertility. In the last decade, a number of animal species including rats, mice, rabbits, pigs, sheep, and primates have been used as experimental models, and pregnancies were achieved in some of these. Human data consist of 11 subjects yielding positive pregnancy results with no live births in the second trial from Turkey and, more fortunately, live births from the latest trial from Sweden. In the light of all these studies, uterus transplantation has been proven to be a viable option for women with uterine factor infertility.

  4. Effect of platelet-rich plasma in the treatment of periodontal intrabony defects in humans

    Institute of Scientific and Technical Information of China (English)

    OUYANG Xiang-ying; QIAO Jing

    2006-01-01

    Background Platelet-rich plasma (PRP) is a kind of natural source of autologous growth factors, and has been used successfully in medical community. However, the effect of PRP in periodontal regeneration is not clear yet.This study was designed to evaluate the effectiveness of PRP as an adjunct to bovine porous bone mineral (BPBM) graft in the treatment of human intrabony defects.Methods Seventeen intrabony defects in 10 periodontitis patients were randomly treated either with PRP and BPBM (test group, n=9) or with BPBM alone (control group, n=8). Clinical parameters were evaluated including changes in probing depth, relative attachment level (measured by Florida Probe and a stent), and bone probing level between baseline and 1 year postoperatively. Standardized periapical radiographs of each defect were taken at baseline, 2 weeks, and 1 year postoperatively, and analyzed by digital subtraction radiography (DSR).Results Both treatment modalities resulted in significant attachment gain, reduction of probing depth, and bone probing level at 1-year post-surgery compared to baseline. The test group exhibited statistically significant improvement compared to the control sites in probing depth reduction: (4.78 ± 0.95) mm versus (3.48±0.41) mm (P<0.01); clinical attachment gain: (4.52± 1.14) mm versus (2.85 ±0.80) mm (P<0.01);bone probing reduction:(4.56±1.04) mm versus (2.88±0.79) mm (P<0.01); and defect bone fill: (73.41±14.78)% versus (47.32±11.47)% (P<0.01). DSR analysis of baseline and 1 year postoperatively also showed greater radiographic gains in alveolar bone mass in the test group than in the control group: gray increase (580 ±50) grays versus (220 ± 32)grays (P=0.0001);area with increased gray were (5.21±1.25) mm2 versus (3.02±1.22) mm2 (P=0.0001).Conclusions The treatment with a combination of PRP and BPBM led to a significantly favorable clinical improvement in periodontal intrabony defects compared to using BPBM alone. Further studies are

  5. Recovery of infectious human immunodeficiency virus type 1 after fusion of defectively infected clones of U-937 cells.

    OpenAIRE

    1991-01-01

    Polyethylene glycol was used to induce polykaryon formation among U-937 cell subclones carrying defective human immunodeficiency virus (HIV) type 1 proviral DNA. Fusion of cells which produced gp120-defective virions (UHC15.7) with cells unable to generate reverse transcriptase (RT) activity (UHC8 and UHC18) yielded polykaryons which made infectious viral progeny that showed normal protein profiles. Southern blot analysis of proviral DNA of cells infected with such fusion-derived virus reveal...

  6. Contribution of the Intestinal Microbiota to Human Health: From Birth to 100 Years of Age

    NARCIS (Netherlands)

    Cheng, J.; Palva, A.M.; Vos, de W.M.; Satokari, R.

    2013-01-01

    Our intestinal tract is colonized since birth by multiple microbial species that show a characteristic succession in time. Notably the establishment of the microbiota in early life is important as it appears to impact later health. While apparently stable in healthy adults, the intestinal microbiota

  7. 中枢神经系统出生缺陷相关因素的调查%Investigation on the Correlation Factors of Birth Defects of Central Nervous System

    Institute of Scientific and Technical Information of China (English)

    龙熙德; 丁华新; 舒仁和

    2009-01-01

    [Objective] To discuss the correlation factors of birth defects of central nervous system(CNS) in the area of Dongting Lake, and to provide the references for establishing intervention measures to prevent birth defects of CNS. [Methods] Among 89147 pregnant women who had been pregnant for at least 28 weeks and delivered after 7 days during the period from January 1997 to December 2006, mothers of 115 children patients who were confirmed to suffer from congenital malformation of CNS were collected as the case group. According to 1:2 matched, mothers of 230 normal newborns with the same condition were chosen as comparison group. Then, questionnaire investigation and match research were conducted. [Results] Family history of congenital malformation, father t