WorldWideScience

Sample records for anencephaly

  1. The natural history of anencephaly.

    LENUS (Irish Health Repository)

    Obeidi, Nidaa

    2012-01-31

    OBJECTIVE: Early elective termination of pregnancy is the most common outcome of a diagnosis of anencephaly in developed countries. Experience and expertise with management of ongoing pregnancies is limited. We aimed to investigate the natural history of these pregnancies from diagnosis to delivery and to determine timing of death. METHOD: A retrospective review of cases of anencephaly diagnosed between 2003 and 2009 in tertiary-referral university teaching hospitals in Cork. RESULTS: The majority of cases (25\\/26; 96%) were diagnosed prenatally at a median gestation of 21(+2) weeks (range 13(+4)-32(+4)). The median maternal age was 30 years (range 17-41) and 50% were primigravidae. Seven pregnancies were complicated by polyhydramnios and four deliveries were complicated by shoulder dystocia. The median gestation at delivery was 35 weeks (range 22(+5)-42(+6)); 69% of labours were induced at a median gestation of 34 weeks. Six women (6\\/26; 23%) had a pre-labour intrauterine fetal death and nine women (9\\/26; 35%) had an intrapartum fetal death. Median neonatal survival time was 55 min (range 10 min to 8 days). Six parents donated neonatal organs for transplantation. CONCLUSION: This study provides useful information for health professionals caring for patients with a diagnosis of anencephaly. The majority of these infants die prior to delivery but short-term survival is possible.

  2. Anencephaly: MRI findings and pathogenetic theories

    International Nuclear Information System (INIS)

    We describe the MRI appearances of an anencephalic newborn who survived for 13 h; particularities of this case are male gender and the absence of other associated malformations. Moreover, we discuss the pathogenetic theories of anencephaly, correlating MRI findings with embryological data. An exencephaly-anencephaly sequence due to amnion rupture is hypothesized. (orig.)

  3. Major gene is responsible for anencephaly among Iranian Jews

    Energy Technology Data Exchange (ETDEWEB)

    Zlotogora, J. [Hebrew Univ. Hadassah Medical School, Jerusalem (Israel)

    1995-03-13

    Anencephaly is relatively frequent in Jews originating from Iran, in particular when its incidence is compared to that of open spina bifida in the same population (12 cases of anencephaly out of 14 cases of neural tube defects). The high incidence of this disorder in Iranian Jews, a relatively isolated community with a very high rate of consanguinity, suggests that anencephaly is caused by a major recessive gene. This possibility is supported by the sex ratio among these patients, which was significantly different from that observed for patients with anencephaly in other populations. 10 refs.

  4. Check the Head: Emergency Ultrasound Diagnosis of Fetal Anencephaly

    OpenAIRE

    Hall IV, John W.; Denne, Nicolas; Joseph J. Minardi; Williams, Debra; Balcik, Brenden J

    2016-01-01

    Background: Early pregnancy complaints in emergency medicine are common. Emergency physicians increasingly employ ultrasound in the evaluation of these complaints. As a result, it is likely that rare, though important, diagnoses will be encountered. We report a case of fetal anencephaly diagnosed by bedside emergency ultrasound in a patient presenting with first trimester vaginal bleeding. Case Report: A 33 year-old patient at 10 weeks gestation presented with vaginal b...

  5. Congenital malformations associated with anencephaly in the Fylde peninsula of Lancashire.

    OpenAIRE

    David, T J; McCrae, F C; Bound, J. P.

    1983-01-01

    The necropsy reports of 174 cases of anencephaly, born in the Fylde peninsula of Lancashire between 1957 and 1980, have been analysed for the presence of other malformations. The results were compared with a similar previous series from Bristol, though the Bristol study differed both in time (1948 to 1975) and in the fact that it was hospital based and, unlike the present study, did not achieve near complete ascertainment. Of the Lancashire anencephalics, 24% had other malformations, a signif...

  6. Monoamniotic Twins with One Fetal Anencephaly and Cord Entanglement Diagnosed with Three Dimensional Ultrasound at 14 Weeks of Gestation

    Directory of Open Access Journals (Sweden)

    Yun Sung Jo, Hyun Joo Son, Dong Gyu Jang, Narinay Kim, Guisera Lee

    2011-01-01

    Full Text Available A 29-year-old pregnant woman with parity 0-0-0-0 was diagnosed with monoamniotic twin pregnancy discordant for anencephaly at 14 weeks gestation. Umbilical cord entanglement, which is an important cause of fetal death in monoamniotic twins, was confirmed by three-dimensional ultrasound. Cesarean section was performed at 34 weeks of gestation, and the normal newborn infant was discharged without any complications. We report a case of monoamniotic twin pregnancy discordant for anencephaly and diagnosed with cord entanglement by three-dimensional ultrasound at 14 weeks of gestation, and now report it along with a literature review.

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

    International Nuclear Information System (INIS)

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

  8. Perinatal factors associated with neural tube defects (anencephaly [correction of anancephaly], spina bifida and encephalocele).

    Science.gov (United States)

    Ogata, A J; Camano, L; Brunoni, D

    1992-01-01

    The objective of the present study was to determine the presence of risk factors for the occurrence of neural tube defects. Data for 33,535 births which occurred at Hospital do Servidor Público Estadual de São Paulo from July 1973 to December 1986 were collected in a prospective manner as recommended by "Estudo Colaborativo Latino-Americano de Malformações Congênitas" (ECLAMC, Collaborative Latin American Study on Congenital Malformations). Twenty-six cases of neural tube defects were detected (0.77/1000 births). Of these, 11 were cases of spina bifida (0.39/1000 births), 9 of anencephaly (0.27/1000 births) and 6 of encephalocele (0.18/1000 births). We observed a higher frequency of polyhydramnios, premature labor, Apgar scores of less than 7 at the first and fifth minutes, low birth weight and intrauterine growth retardation.

  9. Aborto na Suprema Corte: o caso da anencefalia no Brasil Abortion at the Supreme Court: the anencephaly case in Brazil

    Directory of Open Access Journals (Sweden)

    Debora Diniz

    2008-08-01

    Full Text Available Este artigo analisa o desafio jurídico e ético imposto pela anencefalia ao debate sobre direitos reprodutivos no Brasil. O fio condutor da análise é a ação de anencefalia apresentada ao Supremo Tribunal Federal em 2004. O artigo demonstra como o debate sobre o aborto provoca os fundamentos constitucionais da laicidade do Estado brasileiro e expõe a fragilidade da razão pública em temas de direitos reprodutivos, em especial sobre o aborto.This paper analyses the ethical and legal challenges of the anencephaly case in Brazil. The case study is the Supreme Court case on anencephaly proposed in 2004. This paper shows how the abortion debate forces the fundamentals of the Brazilian secular state and demonstrates the weakness of the public reason to mediate reproductive rights, mainly abortion, in Brazil.

  10. Spina bifida and anencephaly before and after folic acid mandate--United States, 1995-1996 and 1999-2000.

    Science.gov (United States)

    2004-05-01

    Neural tube defects (NTDs) are serious birth defects of the spine (e.g., spina bifida) and the brain (e.g., anencephaly) that occur during early pregnancy, often before a woman knows she is pregnant; 50%-70% of these defects can be prevented if a woman consumes sufficient folic acid daily before conception and throughout the first trimester of her pregnancy. In 1992, to reduce the number of cases of spina bifida and other NTDs, the U.S. Public Health Service (USPHS) recommended that all women capable of becoming pregnant consume 400 microg of folic acid daily. Three approaches to increase folic acid consumption were cited: 1) improve dietary habits, 2) fortify foods with folic acid, and 3) use dietary supplements containing folic acid. Mandatory fortification of cereal grain products went into effect in January 1998; during October 1998-December 1999, the reported prevalence of spina bifida declined 31%, and the prevalence of anencephaly declined 16%. Other studies have indicated similar trends. To update the estimated numbers of NTD-affected pregnancies and births, CDC recently analyzed data from 23 population-based surveillance systems that include prenatal ascertainment of these birth defects. This report summarizes the results of that analysis, which indicate that the estimated number of NTD-affected pregnancies in the United States declined from 4,000 in 1995-1996 to 3,000 in 1999-2000. This decline in NTD-affected pregnancies highlights the partial success of the U.S. folic acid fortification program as a public health strategy. To reduce further the number of NTD-affected pregnancies, all women capable of becoming pregnant should follow the USPHS recommendation and consume 400 microg of folic acid every day. PMID:15129193

  11. Genetics Home Reference: anencephaly

    Science.gov (United States)

    ... to close during the first few weeks of embryonic development. The neural tube is a layer of cells ... called vitamin B9). A shortage (deficiency) of this vitamin is an established ... involved in the development of the neural tube have also been studied ...

  12. Beyond Baby Doe: Does Infant Transplantation Justify Euthanasia?

    Science.gov (United States)

    Coulter, David L.

    1988-01-01

    The paper examines ethical issues in the transplantation of organs from infants with anencephaly into infants with severe heart and kidney disease. It argues that active euthanasia of infants with anencephaly should be prohibited to safeguard the rights of all persons with severe neurological disabilities. (Author/DB)

  13. Eating right during pregnancy

    Science.gov (United States)

    ... supply. It also prevents anemia in the mother. Folic acid, for reducing the risk of spina bifida (incomplete closing of the spinal column), anencephaly (defect of the brain), and other birth defects

  14. 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 ...

  15. Ultrasound in pregnancy (image)

    Science.gov (United States)

    The ultrasound has become a standard procedure used during pregnancy. It can demonstrate fetal growth and can detect increasing ... abnormalities, hydrocephalus, anencephaly, club feet, and other ... does not produce ionizing radiation and is considered ...

  16. Glial origin of rapidly adhering amniotic fluid cells.

    OpenAIRE

    Aula, P; von Koskull, H; Teramo, K; Karjalainen, O; Virtanen, I.; Lehto, V P; Dahl, D

    1980-01-01

    Rapidly adhering cells (RA cells) from the amniotic fluid of a pregnancy with fetal anencephaly were investigated by immunofluorescence assay with an antiserum against glial cells. After 24 hours' cultivation a high proportion of the cells showed positive glial-specific fluorescence, whereas no staining was seen in cells from samples of normal amniotic fluid. At the 24th week the mother was delivered of a stillborn infant with anencephaly. Immunofluorescence staining of RA cells with glial-sp...

  17. MEROENCEPHALY

    Directory of Open Access Journals (Sweden)

    Abhijeet Yadav

    2014-09-01

    Full Text Available Anencephaly which is basically a misnomer used in place of meroencephaly for a long time is one of the most common birth defect that is seen in stillborn fetuses. It has multifactorial relations with environment , genetics as well as nutrition.It can be diagnosed by ultrasound, serum alfafetoprotein (AFP level. The present study was done of a female aborted fetus of 32 weeks having anencephaly whose specimen was present in our department. So we planned to present a case report of this very anomaly with its development and genetic causes that lead to this lethal but preventable congenital defect.

  18. 21 CFR 101.79 - Health claims: Folate and neural tube defects.

    Science.gov (United States)

    2010-04-01

    ... result in infant mortality or serious disability. The birth defects anencephaly and spina bifida are the... status, maternal birth cohort, month of conception, race, nutrition, and maternal health, including maternal age and reproductive history. Women with a close relative (i.e., sibling, niece, nephew) with...

  19. Residential agricultural pesticide exposures and risk of neural tube defects and orofacial clefts among offspring in the San Joaquin Valley of California.

    Science.gov (United States)

    Yang, Wei; Carmichael, Suzan L; Roberts, Eric M; Kegley, Susan E; Padula, Amy M; English, Paul B; Shaw, Gary M

    2014-03-15

    We examined whether early gestational exposures to pesticides were associated with an increased risk of anencephaly, spina bifida, cleft lip with or without cleft palate (CLP), or cleft palate only. We used population-based data along with detailed information from maternal interviews. Exposure estimates were based on residential proximity to agricultural pesticide applications during early pregnancy. The study population derived from the San Joaquin Valley, California (1997-2006). Analyses included 73 cases with anencephaly, 123 with spina bifida, 277 with CLP, and 117 with cleft palate only in addition to 785 controls. A total of 38% of the subjects were exposed to 52 chemical groups and 257 specific chemicals. There were relatively few elevated odds ratios with 95% confidence intervals that excluded 1 after adjustment for relevant covariates. Those chemical groups included petroleum derivatives for anencephaly, hydroxybenzonitrile herbicides for spina bifida, and 2,6-dinitroaniline herbicides and dithiocarbamates-methyl isothiocyanate for CLP. The specific chemicals included 2,4-D dimethylamine salt, methomyl, imidacloprid, and α-(para-nonylphenyl)-ω-hydroxypoly(oxyethylene) phosphate ester for anencephaly; the herbicide bromoxynil octanoate for spina bifida; and trifluralin and maneb for CLP. Adjusted odds ratios ranged from 1.6 to 5.1. Given that such odds ratios might have arisen by chance because of the number of comparisons, our study showed a general lack of association between a range of agricultural pesticide exposures and risks of selected birth defects. PMID:24553680

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

    Science.gov (United States)

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

    2010-01-01

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

  1. 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.

  2. Long term trends in prevalence of neural tube defects in Europe

    DEFF Research Database (Denmark)

    Khoshnood, Babak; Loane, Maria; Walle, Hermien de;

    2015-01-01

    to account for heterogeneities across registries and splines to model non-linear time trends. SUMMARY ANSWER AND LIMITATIONS: Overall, the pooled total prevalence of NTD during the study period was 9.1 per 10 000 births. Prevalence of NTD fluctuated slightly but without an obvious downward trend...... in 1999-2003 (0.97, 0.95 to 0.99), with stable rates thereafter. The trend patterns for anencephaly and spina bifida were similar, but neither anomaly decreased substantially over time. The live birth prevalence of NTD generally decreased, especially for anencephaly. Registration problems or other data......-conceptional folic acid supplementation and existence of voluntary folic acid fortification. FUNDING, COMPETING INTERESTS, DATA SHARING: The study was funded by the European Public Health Commission, EUROCAT Joint Action 2011-2013. HD and ML received support from the European Commission DG Sanco during the conduct...

  3. Do neural tube defects lead to structural alterations in the human bladder?

    OpenAIRE

    Pazos, Helena M.F.; Lobo, Márcio Luiz de P.; Waldemar S. Costa; Francisco J. B. Sampaio; Cardoso, Luis Eduardo M.; Alves Favorito, Luciano

    2011-01-01

    Purpose: Anencephaly is the most severe neural tube defect in human fetuses. The objective of this paper is to analyze the structure of the bladder in anencephalic human fetuses. Methods: We studied 40 bladders of normal human fetuses (20 male and 20 female, aged 14 to 23 WPC) and 12 bladders of anencephalic fetuses (5 male and 7 female, aged 18 to 22 WPC). The bladders were removed and processed by routine histological techniques. Stereological analysis of collagen...

  4. The Impact of Spina Bifida on Caregivers

    OpenAIRE

    Rofail, Diana; Maguire, Laura; Heelis, Rebecca; Colligs, Antje; Lindemann, Marion; Abetz, Linda

    2012-01-01

    Introduction Neural tube defects (NTDs) are the second most common birth defects. Spina bifida (SB) and anencephaly make up approximately 90% of total NTDs. Given the number of infants born with an NTD each year, anyone who provides unpaid care for the child (especially caregivers) is affected. This literature review explores the humanistic burden on caregivers of people with SB, specifically myelomeningocele. Methods A search using PubMed, PsycINFO, and Embase was performed to find studies f...

  5. PREVALENCE OF NEURAL TUBE DEFECTS IN KIMS KARAD, 2012-2013 EFFECTIVENESS AND IMPACT OF PRENATAL DIAGNOSIS

    Directory of Open Access Journals (Sweden)

    Sanjaykumar

    2014-11-01

    Full Text Available : OBJECTIVE: To determine Prevalence of NEURAL TUBE DEFECT in tertiary care center (KIMS Karad during July 2012-July 2013. MATERIAL AND METHODS: Patients referred to KIMS as NTD, Booked Patients diagnosed in KIMS as having neural tube defect based on ultrasound findings. RESULTS: Total prevalence of neural tube defect in KIMS from July 2012-July 2013 was 8.2/1000 births. Prevalence of different types of NTD-Anencephaly was 2.8 and spina bifida was 7.4. CONCLUSION: Aim of this study is to create awareness of NTD in order to prevent NTD by measures like periconceptional folic acid supplementation.

  6. The prevention of neural tube defects by folic acid supplementation

    Directory of Open Access Journals (Sweden)

    H. W. Hitzeroth

    1993-05-01

    Full Text Available Neural tube defects, in particular spina bifida and anencephaly, are serious and relatively common congenital abnormalities worldwide. They also occur in South Africa and affect all population groups to varying degrees. The overall incidence in South Africa is approximately 1-2 per 1000 newborns. Higher incidences, up to 6 per 1000 newborns have been recorded in certain parts, especially in some rural areas of the country. In total as many as 1500 newborns could be affected by a neural tube defect each year. The precise aetiology of neural tube defects is still unknown.

  7. Ring chromosome 13

    DEFF Research Database (Denmark)

    Brandt, C A; Hertz, Jens Michael; Petersen, M B;

    1992-01-01

    A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation...... with the probe L1.26 confirmed the derivation from chromosome 13 and DNA polymorphism analysis showed maternal origin of the ring chromosome. Our results, together with a review of previous reports of cases with ring chromosome 13 with identified breakpoints, could neither support the theory of distinct clinical...

  8. Long term trends in prevalence of neural tube defects in Europe: population based study

    Science.gov (United States)

    Loane, Maria; de Walle, Hermien; Arriola, Larraitz; Addor, Marie-Claude; Barisic, Ingeborg; Beres, Judit; Bianchi, Fabrizio; Dias, Carlos; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Klungsoyr, Kari; Latos-Bielenska, Anna; Lynch, Catherine; McDonnell, Bob; Nelen, Vera; Neville, Amanda J; O’Mahony, Mary T; Queisser-Luft, Annette; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Sipek, Antonin; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Dolk, Helen

    2015-01-01

    Study question What are the long term trends in the total (live births, fetal deaths, and terminations of pregnancy for fetal anomaly) and live birth prevalence of neural tube defects (NTD) in Europe, where many countries have issued recommendations for folic acid supplementation but a policy for mandatory folic acid fortification of food does not exist? Methods This was a population based, observational study using data on 11 353 cases of NTD not associated with chromosomal anomalies, including 4162 cases of anencephaly and 5776 cases of spina bifida from 28 EUROCAT (European Surveillance of Congenital Anomalies) registries covering approximately 12.5 million births in 19 countries between 1991 and 2011. The main outcome measures were total and live birth prevalence of NTD, as well as anencephaly and spina bifida, with time trends analysed using random effects Poisson regression models to account for heterogeneities across registries and splines to model non-linear time trends. Summary answer and limitations Overall, the pooled total prevalence of NTD during the study period was 9.1 per 10 000 births. Prevalence of NTD fluctuated slightly but without an obvious downward trend, with the final estimate of the pooled total prevalence of NTD in 2011 similar to that in 1991. Estimates from Poisson models that took registry heterogeneities into account showed an annual increase of 4% (prevalence ratio 1.04, 95% confidence interval 1.01 to 1.07) in 1995-99 and a decrease of 3% per year in 1999-2003 (0.97, 0.95 to 0.99), with stable rates thereafter. The trend patterns for anencephaly and spina bifida were similar, but neither anomaly decreased substantially over time. The live birth prevalence of NTD generally decreased, especially for anencephaly. Registration problems or other data artefacts cannot be excluded as a partial explanation of the observed trends (or lack thereof) in the prevalence of NTD. What this study adds In the absence of mandatory fortification

  9. Teratogenicity studies on late blighted potatoes in nonhuman primates (Macaca mulatta and Saguinus labiatus).

    Science.gov (United States)

    Allen, J R; Marlar, R J; Chesney, C F; Helgeson, J P; Kelman, A; Weckel, G; Traisman, E; White, J W

    1977-02-01

    Female rhesus monkeys and marmosets were fed a diet containing blighted potatoes (Phytophthora infestans) at a level of 10g/kg per day for at least two weeks prior to breeding and six weeks following conception in order to gain additional information on the association of blighted potatoes and the development of anencephaly and spina bifida in primate species. There was an absence of either of these neural-tube defects in 32 rhesus and 14 marmoset infants whose mothers had received a blighted potato diet. In addition there were no cranial osseous defects. There were, however, two rhesus monkey infants with internal hydrocephalus whose mothers had consumed blighted potatoes.

  10. Sonographic monitoring of complications and anomalies in twin gestations

    International Nuclear Information System (INIS)

    One hundred sixty-eight twin gestations were evaluated to assess the role of US in the diagnosis of obstetric complications and anomalies. US revealed the following complications: symptomatic polyhydramnios (eight cases), myomas (seven), placenta previa (three), and abruption (five). Fetal anomalies included twin-twin transfusion syndrome (two), acardiac anomaly (two), chromosomal abnormality (two), anencephaly (one), hydrocephaly (one), and conjoined twins (two). In 26 gestations intrauterine fetal demise or neonatal death involved one or both twins for a total of 42 deaths, constituting a mortality of 12.5%. No maternal deaths occurred. The impact of sonographic monitoring on the obstetric management of twin gestations is emphasized

  11. Validity of Health Plan and Birth Certificate Data for Pregnancy Research

    Science.gov (United States)

    Andrade, Susan E.; Scott, Pamela E.; Davis, Robert L.; Li, De-Kun; Getahun, Darios; Cheetham, T. Craig; Raebel, Marsha A.; Toh, Sengwee; Dublin, Sascha; Pawloski, Pamala A.; Hammad, Tarek A.; Beaton, Sarah J.; Smith, David H.; Dashevsky, Inna; Haffenreffer, Katherine; Cooper, William O.

    2012-01-01

    Purpose To evaluate the validity of health plan and birth certificate data for pregnancy research. Methods A retrospective study was conducted using administrative and claims data from 11 U.S. health plans, and corresponding birth certificate data from state health departments. Diagnoses, drug dispensings, and procedure codes were used to identify infant outcomes (cardiac defects, anencephaly, preterm birth, and neonatal intensive care unit [NICU] admission) and maternal diagnoses (asthma and systemic lupus erythematosus [SLE]) recorded in the health plan data for live born deliveries between January 2001 and December 2007. A random sample of medical charts (n = 802) was abstracted for infants and mothers identified with the specified outcomes. Information on newborn, maternal, and paternal characteristics (gestational age at birth, birth weight, previous pregnancies and live births, race/ethnicity) was also abstracted and compared to birth certificate data. Positive predictive values (PPVs) were calculated with documentation in the medical chart serving as the gold standard. Results PPVs were 71% for cardiac defects, 37% for anencephaly, 87% for preterm birth, and 92% for NICU admission. PPVs for algorithms to identify maternal diagnoses of asthma and SLE were ≥ 93%. Our findings indicated considerable agreement (PPVs > 90%) between birth certificate and medical record data for measures related to birth weight, gestational age, prior obstetrical history, and race/ethnicity. Conclusions Health plan and birth certificate data can be useful to accurately identify some infant outcomes, maternal diagnoses, and newborn, maternal, and paternal characteristics. Other outcomes and variables may require medical record review for validation. PMID:22753079

  12. Folate status and health: challenges and opportunities.

    Science.gov (United States)

    Obeid, Rima; Oexle, Konrad; Rißmann, Anke; Pietrzik, Klaus; Koletzko, Berthold

    2016-04-01

    Each year approximately 2400 pregnancies develop folic acid-preventable spina bifida and anencephaly in Europe. Currently, 70% of all affected pregnancies are terminated after prenatal diagnosis. The prevalence of neural tube defects (NTDs) has been significantly lowered in more than 70 countries worldwide by applying fortification with folic acid. Periconceptional supplementation of folic acid also reduces the risk of congenital heart diseases, preterm birth, low birth weight, and health problems associated with child mortality and morbidity. All European governments failed to issue folic acid fortification of centrally processed and widely eaten foods in order to prevent NTDs and other unwanted birth outcomes. The estimated average dietary intake of folate in Germany is 200 μg dietary folate equivalents (DFE)/day. More than half of German women of reproductive age do not consume sufficient dietary folate to achieve optimal serum or red blood cell folate concentrations (>18 or 1000 nmol/L, respectively) necessary to prevent spina bifida and anencephaly. To date, targeted supplementation is recommended in Europe, but this approach failed to reduce the rate of NTDs during the last 10 years. Public health centers for prenatal care and fortification with folic acid in Europe are urgently needed. Only such an action will sufficiently improve folate status, prevent at least 50% of the NTD cases, reduce child mortality and morbidity, and alleviate other health problems associated with low folate such as anemia. PMID:25825915

  13. EPIDEMIOLOGY OF NEURAL TUBE DEFECTS IN THE WORLD AND IRAN

    Directory of Open Access Journals (Sweden)

    D.D. Farhud

    2000-08-01

    Full Text Available Statistical data from 1966 till 1995 showed that Neural tube defects, in the American continent, Venezuela had the highest prevalence of 38.9 and some Latin American countries showed the low of 7.7. In Europe, Norway had the highest prevalence of 68, and Denmark the lowest, 5.8. In Asia, India had the highest of 181.8 and Japan the lowest of 10. In Africa, Nigeria had the highest of 70 and Negroes of South Africa had the lowest of 9.9. In Australia the figure was 20.05. According to the statistics available of the years 1967 till 1996, anencephaly in China had the highest prevalence of 87. In the American continent, state of Michigan in the USA had the highest of 10.5 and Jamaica, in Central America, had the lowest of 2.6. In Europe, Turkey with 16.4 and Italy with 2.73; in Asia, China with 87 and Iran with 0.8 had the highest and the lowest prevalence, respectively. In Africa, Nigeria with 3.5, and in Oceania, Newzeland with 7.8 in 10000, were reported. Data available on spina bifida, from the years 1968 till 1991 showed the highest prevalence in China with 36, and the lowest in the Alps Mountains with 0.55 in 10000 individuals. In the American continent, state of Arkansas with 7.8 and California with 3.87; in Europe, England with 23.1 and Rhein-Alp with 0.55 in 10000 had the highest and the lowest prevalence. Finally, in China this rate was 36, in Australia 10, in Newzeland 9.4, and in Nigeria 7/10000. In a study carried out in Tehran, from 1969 till 1978 by the authors, out of 13037 births, (17.6 in 10000 newborns had neural tube defects, with anencephaly 0.8 and spina bifida 3.8/10000. In a new study on 8585 deliveries (1991-1997 in Hamadan (a North West province of Iran, Prevalence of total NTDs was 50.1/10000, anencephaly 15.6 and spin bifida 6.98.

  14. Evaluation of fetal anomalies with MR imaging

    International Nuclear Information System (INIS)

    Twenty pregnant women underwent MR imaging (0.5 T) after US disclosed a significant fetal anomaly. The ability of MR imaging to depict the abnormalities was assessed. Of 20 abnormalities, 17 were visualized with MR imaging. Abnormalities included conjoined twins, omphalocele, gastroschisis, hydrocephalus, hydronephrosis, fetal ascites, facial teratoma, anencephaly, bladder outlet obstruction, thanatophoric dwarfism, cystic, hygroma, and fetal ovarian cyst. Thirteen of 14 abnormalities in third-trimester fetuses were visualized, as were four of six abnormalities in second-trimester fetuses. Associated polyhydramnios or oligohydramnios was evident in six of six cases. Anomalies were best delineated with T1-weighted sequences. The study suggests that MR imaging is potentially useful as a complementary imaging modality in the evaluation of fetal anomalies

  15. Fetal MRI Characteristics of Exencephaly: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Ali Sharif

    2016-01-01

    Full Text Available We present the fetal MRI characteristics of exencephaly, a rare malformation of the cranium. The fetus was initially misdiagnosed as anencephaly at 14 weeks of estimated gestational age (EGA and later mislabeled as acrania at 20 weeks of EGA by ultrasound. A confirmatory magnetic resonance imaging (MRI at 29 weeks of EGA demonstrated findings consistent with exencephaly, which was confirmed after birth. To our knowledge, no full fetal MRI characteristics have been described. We hope to use this case to review the key MRI findings in differentiating exencephaly from other cranial vault defects and to help early diagnosis of exencephaly as the appropriate use of correct nomenclature allows better research while giving parents the most accurate and appropriate counseling.

  16. Fetal MRI Characteristics of Exencephaly: A Case Report and Literature Review.

    Science.gov (United States)

    Sharif, Ali; Zhou, Yihua

    2016-01-01

    We present the fetal MRI characteristics of exencephaly, a rare malformation of the cranium. The fetus was initially misdiagnosed as anencephaly at 14 weeks of estimated gestational age (EGA) and later mislabeled as acrania at 20 weeks of EGA by ultrasound. A confirmatory magnetic resonance imaging (MRI) at 29 weeks of EGA demonstrated findings consistent with exencephaly, which was confirmed after birth. To our knowledge, no full fetal MRI characteristics have been described. We hope to use this case to review the key MRI findings in differentiating exencephaly from other cranial vault defects and to help early diagnosis of exencephaly as the appropriate use of correct nomenclature allows better research while giving parents the most accurate and appropriate counseling. PMID:26955498

  17. Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects: World Health Organization guidelines.

    Science.gov (United States)

    Cordero, Amy M; Crider, Krista S; Rogers, Lisa M; Cannon, Michael J; Berry, R J

    2015-04-24

    Neural tube defects (NTDs) such as spina bifida, anencephaly, and encephalocele are serious birth defects of the brain and spine that occur during the first month of pregnancy when the neural tube fails to close completely. Randomized controlled trials and observational studies have shown that adequate daily consumption of folic acid before and during early pregnancy considerably reduces the risk for NTDs. The U.S. Public Health Service recommends that women capable of becoming pregnant consume 400 µg of folic acid daily for NTD prevention. Furthermore, fortification of staple foods (e.g., wheat flour) with folic acid has decreased folate-sensitive NTD prevalence in multiple settings and is a highly cost-effective intervention. PMID:25905896

  18. Frecuencia de los defectos del tubo neural en Asturias: impacto del diagnóstico prenatal Prevalence of neural tube defects in Asturias (Spain: impact of prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    Enrique García López

    2009-12-01

    Full Text Available Objetivo Describir la frecuencia de defectos del tubo neural (DTN -anencefalia, espina bífida y encefalocele-en Asturias, su evolución temporal y el impacto del diagnóstico prenatal. Métodos: Se estudiaron los casos de DTN en nacidos y abortos inducidos durante el período 1990-2004, utilizando la base de datos del Registro de Defectos Congénitos de Asturias, de base poblacional. Se calcularon las tasas de prevalencia total y al nacimiento. Resultados: La prevalencia total de DTN fue de 12,2 casos por 10.000 nacidos (5,9 anencefalias, 5,0 espinas bífidas y 1,3 encefaloceles y mostró una tendencia ligeramente descendente, con un descenso significativo de la espina bífida, mientras que las cifras de anencefalia y encefalocele se mantuvieron estables. Finalizaron en aborto inducido tras el diagnóstico prenatal el 88% de los casos (anencefalia 96,7%; espina bífida 80%; encefalocele 84,6%, lo que determinó una prevalencia al nacimiento muy baja (1,4 DTN por 10.000 nacidos. Conclusiones: En Asturias, en los últimos 15 años se ha producido un descenso selectivo en la prevalencia total de espina bífida de causa no aclarada. La prevención secundaria, mediante los programas de diagnóstico prenatal y la consiguiente interrupción del embarazo, fue el motivo del marcado descenso de la frecuencia en los nacidos; la simple recomendación de suplementación periconcepcional con ácido fólico no parece haber logrado el efecto buscado.Objective: To describe the frequency and prevalence trend for neural tube defects (NTD (anencephaly, spina bifida and encephalocele in Asturias (Spain, as well as the impact of prenatal diagnosis programs. Methods: All cases of NTD in births and induced abortions were studied, using data from the Registry of Congenital Defects of Asturias for 1990-2004. Total and birth prevalence rates were calculated. Results: The prevalence of NTD for 1990-2004 was 12.2 per 10,000 births (5.9 anencephaly, 5.0 spina bifida and 1

  19. Neural tube defects

    Directory of Open Access Journals (Sweden)

    M.E. Marshall

    1981-09-01

    Full Text Available Neural tube defects refer to any defect in the morphogenesis of the neural tube, the most common types being spina bifida and anencephaly. Spina bifida has been recognised in skeletons found in north-eastern Morocco and estimated to have an age of almost 12 000 years. It was also known to the ancient Greek and Arabian physicians who thought that the bony defect was due to the tumour. The term spina bifida was first used by Professor Nicolai Tulp of Amsterdam in 1652. Many other terms have been used to describe this defect, but spina bifida remains the most useful general term, as it describes the separation of the vertebral elements in the midline.

  20. Neural tube defect and folic acid.

    Science.gov (United States)

    Wani, M A

    2000-01-01

    Neural tube defect (NTD) is a group of congenital anomalies, which include anencephaly, encephalocele, iniencephaly, meningocele, myelomeningocele, myeloschisis, lipomeningocele, and rashischisis. Congenital malformations of the central nervous system constitute more than half of all congenital malformations with an incidence of 1-2/1000 births. The condition is thought to arise from multifactorial etiology with a distinct genetic predisposition. This paper discusses the pathogenesis of NTD and explores the use of folic acid for the prevention of this serious congenital malformation. Two studies, which have shown a significant protective effect of folic acid use on NTD prevention in high-risk mothers, are cited. In considering the effectiveness of folic acid supplementation on NTD prevention, obstetricians, pediatricians, neonatologists, and family doctors are called to initiate a collective effort to increase awareness among women in the childbearing age on the need of daily multivitamin intake with folic acid prior to pregnancy.

  1. Folate and neural tube defects - Recommendations from a Danish working group

    DEFF Research Database (Denmark)

    Rasmussen, Lone Banke; Andersen, Niels Lyhne; Andersson, G.;

    1998-01-01

    in Denmark will decrease if the folate intake in fertile women increases. All women planning pregnancy should receive dietary counselling. Women who do not eat according to the Nordic Nutrition Recommendations. and women a with an increased risk due to diseases are recommended a supplement of 400 mu g folic......A working group was established to evaluate the need for an increased folate intake in Danish women to decrease the risk of neural tube defects (NTDs). NTD are birth defects a which include anencephaly, encephalocele and spina bifida. In Denmark the incidence is about 1.4 per 1,000 pregnancies......, in the few studies which calculate folate intake from the diet, a lower risk of NTD with higher intake of folate from the diet has been found. The folate intake can be increased by the diet, by folic acid supplements or by fortification of food a with folic acid. It is concluded that the incidence of NTDs...

  2. [Cynocephali and Blemmyae. Congenital anomalies and medieval exotic races].

    Science.gov (United States)

    Bos, C A; Baljet, B

    1999-12-18

    In the mediaeval Dutch manuscript Der naturen bloeme ('On the flowers of nature') by Jacob van Maerlant (circa 1230-circa 1296), an encyclopaedia of descriptions of people, animals, plants and minerals dating from about 1270, many illustrations refer to the text. An intriguing part of the book is called 'Vreemde volkeren' ('Exotic people'). In another manuscript of Van Maerlant, Dit is die istory van Troyen ('The history of Troyes') in the chapter 'De wonderen van het Verre Oosten' ('The miracles of the Far East') the exotic people are also described. These exotic people have many features similar to congenital malformations. 'Hippopodes' are probably based on the lobster claw syndrome, 'Cynocephali' on anencephaly, 'Arimaspi' on cyclopia, 'Blemmyae' on acardiacus, the double-faced on diprosopus, 'Sciopods' on polydactyly and 'Antipodes' on the sirenomelia sequence.

  3. Neural Tube Defects in Native Fars Ethnicity in Northern Iran

    Directory of Open Access Journals (Sweden)

    MJ Golalipour

    2010-09-01

    Full Text Available "nBackground: Neural tube defects (NTD are one of the leading causes of infant mortality worldwide. This study was de­signed to determine the prevalence of NTDs among native Fars ethnic groups during 1998-2005, and to identify maternal and demographic factors associated with NTDs. "nMethods: We performed a descriptive cross-sectional hospital-based study in Dezyani Hospital, Gorgan, North of Iran, since January 1998 until December 2005. The design was based on a sample of 30,639 births of native Fars ethnic groups. Data were analyzed by using spss V13.5 software and were compared with the chi-square test."nResults: The prevalence of NTDs in Native Fars during the 8-year period was 25.4 per 10000 births (95% confidence inter­val: 20.1-31.8. The prevalence of NTDs was 20.6/10000 and 30.6/10000 in males and females respectively but this differ­ence was not significant. The prevalence of spina bifida, anencephaly and encephalocele were 12.7, 11.4 and 1.3 per 10000 respec­tively. The rate of NTD was 48.9/10000 in newborns with mothers aged > 35 years. The highest rate of NTDs and spina bi­fida was in 2002. The highest and lowest rate of anencephaly was in 2005 and 2003 respectively. Twenty eight percent of the parents had consanguineous marriages. Degree relatedness 3, 4, 5 and 6 of consanguineous marriages were 12.8%, 9%, 3.8%, 2.5%, respectively. Also 47.5% of the parents resided in rural areas.  "nConclusion: This investigation showed that the rate of NTDs in Native Fars was higher in Iran. In addition, this rate is higher than the Canada and Ukraine and lower than Chinese people.

  4. Neural Tube Defect in Alive Neonates: Incidence Rate and Predisposing Factors

    Directory of Open Access Journals (Sweden)

    F Haghollahi

    2008-06-01

    Full Text Available Background: Neural Tube Defect (NTD characterized by failure of neural tube to close properly be the second most common born defect after congenital heart disease. The most prevalent forms of NTD are Anencephaly and Spinal-bifida. Many factors are involved in this anomaly. New researches suggest environmental factors like radiation, hyperthermia, Vitamin A and acid folic deficiency, anti epileptic drug like Carbamazepine, Phenobarbital, phenytoin, Folic acid antagonist like Sulfasalazine, Triametherine and systemic disease like diabet mellitus, obesity, genetic factors, the most schance 40 to 70 percentages.Methods: In this survey cross sectional study was conducted in five hospitals depend to Tehran university during three years. Study subject identified through review of admission and discharge at major hospital through regular contact with newborn nurseries and birth hospital.Results: In 38473 reported cases, 143 cases have neural tube defect. Among NTD cases, 11.9% of mothers had medical diseases in their previous history such as diabetes mellitus, epilepsy-psychiatric, and disorder-heart diseases. In this study group, 5.6% have preclampsia during pregnancy period. The most common NTD anomaly in this study was anencephaly and meningomyelocele that was different from studies in literature.Conclusion: NTD result from failure of neural tube close threats fetus health up to 28 days after conception. When is often prior to the recognition of pregnancy since many pregnancy are unplanned NTD prevention is best achieve by adequate daily folic acid intake thought of reproductive ages .educational effort to promote daily intake of folic acid supplemental by women of reproductive age and NTD risk factor should be done. Early diagnostic procedure for high risk pregnancy advised.

  5. Frequency of Congenital Anomalies in Newborns and Its Relation to Maternal Health in a Tertiary Care Hospital in Peshawar, Pakistan

    Directory of Open Access Journals (Sweden)

    Adnan Khan

    2015-03-01

    Full Text Available Background: Congenital anomalies are a major cause of perinatal and neonatal deaths, both in low- and high-income countries. They are relatively common worldwide, affecting 3% to 5% of live births. Methods: A cross-sectional study was conducted from January 2014 to June 2014 at the Khyber teaching hospital in Peshawar. Specific patient information was obtained from patient records at the beginning of the study. Those individuals found to have at least one birth defect were approached and their attendants (mothers were interviewed. Information regarding various risk factors was collected. Descriptive analyses were carried out. Results: Out of 1062 deliveries, 2.9% (31 of newborns had various congenital anomalies. Hydrocephalus (22.6%, anencephaly (12.9%, and spina bifida (9.7% were major anomalies. The maternal age ranged from 18 years to 46 years (mean: 30 ± 8. Most of the anomalies (35.5% were present in the 26-30 years age group. Out of 31 babies, 6.4% had multiple anomalies. The preponderance of various congenital anomalies was seen in parity 1 (35.4%; parities 2 to 4 had lower incidences (35.4%. The consanguinity rate was 67.7%; only 32.3% of patients were using folic acid. History of passive smoking was positive in 16.1% of cases. Conclusion: Anencephaly and hydrocephalus were the most prominent anomaly detected; early prenatal diagnosis may be helpful in decreasing mortality by offering early termination. Low intake of folic acid and a high consanguinity rate were the most common associated risk factors for congenital anomalies. These risk factors may be reduced by creating awareness regarding the avoidance of consanguineous marriage and promoting the use of folic acid during pregnancy.

  6. Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice.

    Directory of Open Access Journals (Sweden)

    Sandra C P De Castro

    Full Text Available Neural tube defects (NTDs, including spina bifida and anencephaly, are common birth defects whose complex multigenic causation has hampered efforts to delineate their molecular basis. The effect of putative modifier genes in determining NTD susceptibility may be investigated in mouse models, particularly those that display partial penetrance such as curly tail, a strain in which NTDs result from a hypomorphic allele of the grainyhead-like-3 gene. Through proteomic analysis, we found that the curly tail genetic background harbours a polymorphic variant of lamin B1, lacking one of a series of nine glutamic acid residues. Lamins are intermediate filament proteins of the nuclear lamina with multiple functions that influence nuclear structure, cell cycle properties, and transcriptional regulation. Fluorescence loss in photobleaching showed that the variant lamin B1 exhibited reduced stability in the nuclear lamina. Genetic analysis demonstrated that the variant also affects neural tube closure: the frequency of spina bifida and anencephaly was reduced three-fold when wild-type lamin B1 was bred into the curly tail strain background. Cultured fibroblasts expressing variant lamin B1 show significantly increased nuclear dysmorphology and diminished proliferative capacity, as well as premature senescence, associated with reduced expression of cyclins and Smc2, and increased expression of p16. The cellular basis of spinal NTDs in curly tail embryos involves a proliferation defect localised to the hindgut epithelium, and S-phase progression was diminished in the hindgut of embryos expressing variant lamin B1. These observations indicate a mechanistic link between altered lamin B1 function, exacerbation of the Grhl3-mediated cell proliferation defect, and enhanced susceptibility to NTDs. We conclude that lamin B1 is a modifier gene of major effect for NTDs resulting from loss of Grhl3 function, a role that is likely mediated via the key function of lamin B1

  7. Folic acid and the decline in neural tube defects in Arkansas.

    Science.gov (United States)

    Mosley, Bridget S; Hobbs, Charlotte A; Flowers, Bettye S; Smith, Veronica; Robbins, James M

    2007-04-01

    Folic acid has been shown to reduce the risk of pregnancies affected by neural tube defects (NTDs) by as much as 70%. Cereal grains sold in the U.S. have been fortified with folic acid since 1998. The Arkansas Reproductive Health Monitoring System and the Arkansas Folic Acid Coalition have encouraged use of folic acid and monitored the impact of increased consumption of folic acid among Arkansans. NTDs in Arkansas have declined 40% since intervention programs were implemented. The greatest decline has been observed among white and Hispanic women. Efforts to encourage folic acid consumption should continue to target Arkansas women. NTDs include anencephaly and spina bifida. These birth defects result from incomplete closure of the fetal neural tube during the first month of pregnancy. Infants with anencephaly are born without all or most of their brain and die within a few days of life. Infants with spina bifida have varying degrees of impairment ranging from little noticeable disability to severe, lifelong disability. Folic acid, when taken in supplement form has been shown to reduce the risk of a pregnancy affected by a neural tube defect by as much as 70%. As a result of this finding, the U.S. Federal Drug Administration mandated that cereal grains sold in this country be fortified with at least 140 mcg of folic acid per 100 grams of grain by January 1, 1998. Prior to mandatory fortification, the March of Dimes and the U.S. Public Health Service released statements encouraging all women of reproductive age who are capable of becoming pregnant to take 400 mcg 'of synthetic folic acid daily. The Arkansas Reproductive Health Monitoring System (ARHMS) has monitored rates of NTDs in Arkansas since 1980. ARHMS is the lead agency of the Arkansas Folic Acid Coalition whose mission is to encourage folic acid use among all Arkansas women of reproductive age. In this report, we summarize efforts by ARHMS and the Arkansas Folic Acid Coalition to increase the awareness and

  8. Folic acid and the decline in neural tube defects in Arkansas.

    Science.gov (United States)

    Mosley, Bridget S; Hobbs, Charlotte A; Flowers, Bettye S; Smith, Veronica; Robbins, James M

    2007-04-01

    Folic acid has been shown to reduce the risk of pregnancies affected by neural tube defects (NTDs) by as much as 70%. Cereal grains sold in the U.S. have been fortified with folic acid since 1998. The Arkansas Reproductive Health Monitoring System and the Arkansas Folic Acid Coalition have encouraged use of folic acid and monitored the impact of increased consumption of folic acid among Arkansans. NTDs in Arkansas have declined 40% since intervention programs were implemented. The greatest decline has been observed among white and Hispanic women. Efforts to encourage folic acid consumption should continue to target Arkansas women. NTDs include anencephaly and spina bifida. These birth defects result from incomplete closure of the fetal neural tube during the first month of pregnancy. Infants with anencephaly are born without all or most of their brain and die within a few days of life. Infants with spina bifida have varying degrees of impairment ranging from little noticeable disability to severe, lifelong disability. Folic acid, when taken in supplement form has been shown to reduce the risk of a pregnancy affected by a neural tube defect by as much as 70%. As a result of this finding, the U.S. Federal Drug Administration mandated that cereal grains sold in this country be fortified with at least 140 mcg of folic acid per 100 grams of grain by January 1, 1998. Prior to mandatory fortification, the March of Dimes and the U.S. Public Health Service released statements encouraging all women of reproductive age who are capable of becoming pregnant to take 400 mcg 'of synthetic folic acid daily. The Arkansas Reproductive Health Monitoring System (ARHMS) has monitored rates of NTDs in Arkansas since 1980. ARHMS is the lead agency of the Arkansas Folic Acid Coalition whose mission is to encourage folic acid use among all Arkansas women of reproductive age. In this report, we summarize efforts by ARHMS and the Arkansas Folic Acid Coalition to increase the awareness and

  9. Accuracy of Ultrasound in Detection of Gross Prenatal Central Nervous System Anomalies after the Eighteenth Week of Gestation

    Directory of Open Access Journals (Sweden)

    M. Tahmasebi

    2007-10-01

    Full Text Available Background/Objective: Ultrasound (US detection of prenatal central nervous system (CNS anatomic anomalies is very important in making decision about therapeutic termination. In the present study, the accuracy of US in detection of gross prenatal CNS anatomic anomalies has been investigated."nPatients and Methods: 3012 pregnant women were scanned after 18 weeks of gestation by an expert operator in a referring center. All delivered fetuses were followed after birth through clinical examination and sonography."nResults: In this study, the accuracy of US in detection of gross CNS anatomic anomalies of fetuses after 18 weeks gestation was found to be 100%. The sensitivity, specificity, positive and negative predictive values of US were 100%. In sonographic examination of these 3012 pregnant women, 36 fetuses were detected with CNS anomalies, some of whom had more than one anomaly. Gross CNS anomalies observed included microcephaly, hydrocephaly, anencephaly, holoprosencephaly, ventriculomegaly, meningocele, encephalocele, lissencephaly, agenesis of corpus callosum, bilateral choroid plexus cysts and hypoplastic cerebellum."nConclusion: US is highly operator dependent and operator experience may be the most determinant affecting the results. Sonographic scanning after 18 weeks of gestation is associated with the best results.

  10. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

    Science.gov (United States)

    Mazzaschi, Roberto L. P.; Taylor, Juliet; Robertson, Stephen P.; Love, Donald R.; George, Alice M.

    2014-01-01

    A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild “classic” Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker. PMID:24778889

  11. Are women with recent live births aware of the benefits of folic acid?

    Science.gov (United States)

    Ahluwalia, I B; Daniel, K L

    2001-05-11

    Each year, approximately 4,000 pregnancies result in spina bifida or anencephaly, serious and often fatal conditions for the newborn. The B vitamin folic acid can reduce the incidence of these conditions by 50%-70%. To examine folic acid awareness among women who had recently delivered a live-born infant, CDC analyzed Pregnancy Risk Assessment Monitoring System (PRAMS) data for 1995-1998. The question used to measure awareness was, "Have you ever heard or read that taking the vitamin folic acid can help prevent some birth defects?" During the study period, overall folic acid awareness increased 15%, from 64% in 1996 to 73% in 1998, although changes varied by state. Despite this increase, differences in folic acid awareness were observed among different groups of women. Women who obtained a high school education or less; who were black, Hispanic, or from other racial/ethnic groups; who entered prenatal care after the first trimester; and whose pregnancies were unintended were less aware of folic acid. This study indicates that gaps persist among women in low socioeconomic groups. Overall, PRAMS data indicated an increase in folic acid awareness among women with recent deliveries. However, this awareness might be too late for the pregnancy that has occurred, indicating a continued need to educate all reproductive-aged women regarding the need to take folic acid before they become pregnant.

  12. Use of supplements containing folic acid among women of childbearing age--United States, 2007.

    Science.gov (United States)

    2008-01-11

    Neural tube defects (NTDs) are serious birth defects of the brain (anencephaly) and spine (spina bifida) that affect approximately 3,000 pregnancies each year in the United States. In 1992, the U.S. Public Health Service recommended that all women of childbearing age in the United States capable of becoming pregnant consume 400 microg of folic acid daily to reduce their risk for having a pregnancy affected by NTDs. To assess awareness, knowledge, and behavior related to folic acid among women of childbearing age (aged 18-45 years), CDC analyzed the results of a national survey conducted annually by the Gallup Organization during the period 2003-2007. This report summarizes the results of that analysis, which indicated that, among all women of childbearing age, those aged 18-24 years had the least awareness regarding folic acid consumption (61%), the least knowledge regarding when folic acid should be taken (6%), and the lowest reported daily use of supplements containing folic acid (30%). Because women in this age group account for nearly one third of all births in the United States, promotion of folic acid consumption should be targeted to this population.

  13. Fetal central nervous system anomalies: fast MRI vs ultrasonography

    International Nuclear Information System (INIS)

    Objective: To evaluate the ability of fast MRI to detect fetal central nervous system (CNS) anomalies and to compare its performance with that of prenatal ultrasonography (US). Methods Forty-eight pregnant women were detected by conventional prenatal US and MRI. Twenty-two fetuses with CNS anomalies were conformed by autopsy and follow-up. The MR and US appearances of fetal CNS structure were compared to each other and to that of autopsy. Results: A total of 26 CNS anomalies were identified by autopsy (n=17) and follow-up (n=9) including anencephaly (n=6), rachischisis (n=2), encephalocele (n=3), congenital hydrocephalus (n=7), alobar holoprosencephaly (n=1), porencephalia (n=3), arachnoid cyst (n=2) and choroids plexus cyst (n=2). US diagnosed 24 CNS anomalies, the correct diagnostic rate was 92.3%, the false-positive rate was 3.8%, the missed-diagnostic rate was 3.8%. MRI diagnosed 23 CNS anomalies, the correct-diagnostic rate was 88.5%, the false-positive rate was 3.8% ,the missed-diagnostic rate was 7.7%. There was no difference between US and MRI (P>0.05), but MRI have larger FOV, higher tissues resolution, and can demonstrate gray-white matter in detail. Conclusions: MR imaging has a similar sensitivity to that of US in the detection of fetal CNS anomalies. (authors)

  14. MISPLACED AND MIGRATED IUCD: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Sankareswari

    2015-12-01

    Full Text Available Misplaced IUCD is the condition when the tail of IUCD is not seen through the cervical os. IUCD migration subsequent to uterine perforation is an uncommon but serious complication. Incidence of perforation varies from 1-3 per 1000 insertions. 4 24 years old female, P3L2A0 with the complaints of severe dysmenorrhea for 4years and abdominal pain with low back pain for 2years. She had 2FTND and IUCD inserted 6months after last delivery in April 2007. 5months later, with 2months amenorrhea, diagnosed as pregnancy with expulsion of IUCD, as there was no thread seen through external cervical os. USG was not done. This pregnancy was terminated at 7th month due to Anencephaly in February 2008. Interval laparoscopic sterilisation done in July 2010. USG on 28/09/2013 revealed IUCD in right ovary when she went for ovum donation and advised removal. After 7.5 years, on 11/10/2013 laparoscopic removal of IUCD done from right ovary which was surrounded by adhesions and pus. Perforated site seen in the fundus of uterus as depression. Appropriate antibiotics given. Post-operative period was uneventful. On follow up, the patient is free of abdominal pain and back pain. This case report highlights the need for vigilance in misplaced IUCD. Plain X ray abdomen and pelvis can pick up the diagnosis and exclude the perforation and migration. So that further complications and morbidity are prevented

  15. Prevalence of neural tube defects and folic acid knowledge and consumption--Puerto Rico, 1996-2006.

    Science.gov (United States)

    2008-01-11

    Birth defects are one of the leading causes of infant mortality in both the mainland United States and Puerto Rico. Neural tube defects (NTDs) are serious birth defects of the spine and brain; two of the most common NTDs are spina bifida and anencephaly. In the United States, NTD prevalence is higher among Hispanic women than among non-Hispanic white or non-Hispanic black women. In Puerto Rico, where most residents are Hispanic, the prevalence of NTDs (8.68 per 10,000 live births) is higher than in the mainland United States (5.59). Consumption of folic acid before and during early pregnancy can prevent NTDs. To assess trends in NTD prevalence and prevalence of knowledge and consumption of folic acid supplements in Puerto Rico, data were analyzed from the Birth Defects Surveillance System (BDSS) for 1996-2005 and the Behavioral Risk Factor Surveillance System (BRFSS) for 1997-2006. This report describes the results of those analyses, which indicated that prevalence of folic acid knowledge and consumption among women of childbearing age increased from 1997 to 2003 but decreased from 2003 to 2006. During similar periods, NTD prevalence declined from 1996 to 2003 but did not change significantly from 2003 to 2005. To resume the decline in prevalence of NTDs, additional measures might be needed to increase folic acid supplement use among Puerto Rican women of childbearing age. PMID:18185495

  16. Updated estimates of neural tube defects prevented by mandatory folic Acid fortification - United States, 1995-2011.

    Science.gov (United States)

    Williams, Jennifer; Mai, Cara T; Mulinare, Joe; Isenburg, Jennifer; Flood, Timothy J; Ethen, Mary; Frohnert, Barbara; Kirby, Russell S

    2015-01-16

    In 1992, the U.S. Public Health Service recommended that all women capable of becoming pregnant consume 400 µg of folic acid daily to prevent neural tube defects (NTDs). NTDs are major birth defects of the brain and spine that occur early in pregnancy as a result of improper closure of the embryonic neural tube, which can lead to death or varying degrees of disability. The two most common NTDs are anencephaly and spina bifida. Beginning in 1998, the United States mandated fortification of enriched cereal grain products with 140 µg of folic acid per 100 g. Immediately after mandatory fortification, the birth prevalence of NTD cases declined. Fortification was estimated to avert approximately 1,000 NTD-affected pregnancies annually. To provide updated estimates of the birth prevalence of NTDs in the period after introduction of mandatory folic acid fortification (i.e., the post-fortification period), data from 19 population-based birth defects surveillance programs in the United States, covering the years 1999-2011, were examined. After the initial decrease, NTD birth prevalence during the post-fortification period has remained relatively stable. The number of births occurring annually without NTDs that would otherwise have been affected is approximately 1,326 (95% confidence interval = 1,122-1,531). Mandatory folic acid fortification remains an effective public health intervention. There remain opportunities for prevention among women with lower folic acid intakes, especially among Hispanic women, to further reduce the prevalence of NTDs in the United States. PMID:25590678

  17. Use of supplements containing folic acid among women of childbearing age--United States, 2007.

    Science.gov (United States)

    2008-01-11

    Neural tube defects (NTDs) are serious birth defects of the brain (anencephaly) and spine (spina bifida) that affect approximately 3,000 pregnancies each year in the United States. In 1992, the U.S. Public Health Service recommended that all women of childbearing age in the United States capable of becoming pregnant consume 400 microg of folic acid daily to reduce their risk for having a pregnancy affected by NTDs. To assess awareness, knowledge, and behavior related to folic acid among women of childbearing age (aged 18-45 years), CDC analyzed the results of a national survey conducted annually by the Gallup Organization during the period 2003-2007. This report summarizes the results of that analysis, which indicated that, among all women of childbearing age, those aged 18-24 years had the least awareness regarding folic acid consumption (61%), the least knowledge regarding when folic acid should be taken (6%), and the lowest reported daily use of supplements containing folic acid (30%). Because women in this age group account for nearly one third of all births in the United States, promotion of folic acid consumption should be targeted to this population. PMID:18185493

  18. [From teratology to mythology: ancient legends].

    Science.gov (United States)

    Stahl, A; Tourame, P

    2010-12-01

    The mythology of the Greeks and Romans is full of monsters of fiction: giants, cyclops, centaurs, hydras, Gorgons… The accounts of travelers, reproduced in the Natural History of Pline l'Ancien reported the existence, in distant countries, of men with a dog's head (baboons), of men with a single tall foot (sciapode), beings whose face is embedded in the chest (or acephala blemmyes), to which must be added a wide variety of men with no mouth, no nose, or equipped with giant ears or feet turned backwards, as well as hermaphrodites. Teratology reports on monstrous births, which have constituted the factual basis from which the imagination conceived adults whose morphology corresponds to the monsters of legend. Newborns sirenomelia were behind the legend of sciapode and sirens. Cyclopia have inspired the legend of the cyclops. Anencephaly probably explains the description of headless or blemmyes. The genesis of the legend of baboons may have multiple origins: firstly the existence of people suffering from congenital hypertrichosis, on the other hand, the influence of Egyptian mythology where the god Anubis has a dog's head. The acardiac fetus may explain some monstrous forms, features the work of Hieronymus Bosch. The significance of the monsters of legend, their genesis, their persistence through the ages is complex. By approaching teratology, we added a new field of exploration of real monsters of antiquity and Middle Ages. PMID:21074387

  19. Value of systematic post mortem radiographic examinations of fetuses - 400 cases

    Energy Technology Data Exchange (ETDEWEB)

    Kalifa, G.; Sellier, N.; Barbet, J.P.; Labbe, F.; Houette, A.

    1989-01-01

    A retrospective study of 400 cases of fetal deaths has been carried out to assess the value of systematic post mortem radiological examination. Apart from general diagnosis purpose, special attention was given to the assessment of bone age and mineralization. The results were correlated with the clinical, U.S., chromosomal and pathological data. Computerized analysis of our information show the following results: (1) The radiological examination was valuable for the final diagnosis in 13.5% of cases. (2) It brings additional information in 34.5% of cases. (3) It had no diagnostic value in 52%. Furthermore several points deserve attention such as apparition of teeth (21 weeks), calcaneum (24 weeks). Major osteoporosis was always associated with a constitutional bone disease or an infectious process. An excessive length of the upper limbs (12) was seen in 11 cases of anencephaly. We suggest that a radiological examination should not be routinely performed, when the diagnosis is otherwise obvious, but should be considered in the presence of dwarfism, or other limb abnormalities and when the gestational age is uncertain. The films provide essential information especially for further genetic counselling.

  20. 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.

  1. Folic Acid Supplementation to Reduce Neural Tube Defects During Pregnancy%围孕期补充叶酸降低神经管畸形

    Institute of Scientific and Technical Information of China (English)

    周维侠

    2014-01-01

    神经管畸形是由遗传因素与环境因素共同作用而导致的复杂的多基因遗传病,大量的流行病学研究发现叶酸缺乏和 NTDs 密切相关。NTDs 是较为常见的先天畸形,主要表现为脊柱裂和无脑畸形两种类型。经过研究表明,其所显示的围孕期补充叶酸可以对 NTDs的发病率有所降低。研究结果对最佳的叶酸补充提出参考性意见。%Neural tube defects are caused by both genetic factors and environmental factors of complex polygenic hereditary disease, a large number of epidemiological studies have found that folate deficiency and NTDs are closely related. NTDs is one of the most common birth defects. Main types with spina bifida and anencephaly. Various studies have shown around pregnancy folic acid supplementation can significantly reduce the incidence of NTDs. There are many study puts forward guidance on how to make the best of folic acid.

  2. Advances in Etiology of Neural Tube Defects%神经管缺陷的病因学研究进展

    Institute of Scientific and Technical Information of China (English)

    谢远杰; 赵国军; 莫中成; 龙治峰

    2009-01-01

    Neural tube defects (NTDs) are a group of complex congenital defects of the CNS, commonly including anencephaly, spina bifida and encephaloceles which arise from the malformations of neural tube closure during the process of neurulation. Both environmental and genetic factors are involved in the etiology of NTDs, and many of them have been identified as risk factors of neural tube defects. Despite exhaustive research efforts, little is known about the actual genetic mechanisms governing the primary events involved in neural tube defects. We will review these factors in details.%脊柱裂、无脑儿和脑膜脑膨出通常被统称为神经管缺陷(neural tube defects,NTDs),是在神经胚形成过程中由于神经管闭合异常导致的中枢神经系统先天性疾病.其病因极其复杂,目前认为与神经管发育有关的基因异常和诸多环境因素均能导致NTDs,尽管很多学者对NTDs的病因做了大量的研究,但目前对于导致人NTDs的关键病因仍知之甚少.本文就目前研究最多的与神经管缺陷有关的基因和环境因素作一综述.

  3. 中国30个县(市)1993~2000年神经管畸形在出生人群中的患病率及变动趋势分析%Prevalence of neural tube defects at birth in 30 counties and cities of China, 1993-2000

    Institute of Scientific and Technical Information of China (English)

    叶荣伟; 李松; 郑俊池; 洪世欣; 陈新; 王太梅; 任爱国; 王丽娜; 李竹

    2002-01-01

    Objective:To describe the prevalence rates of neural tube defects (NTD) and yearly trends (1993-2000) in China. Methods: All the data were obtained from the Birth Defects Surveillance System in thirty counties/cities of China. The calculation of NTD prevalence rates and time trend analyses were based on the data for live (L) and stillbirths (S) only, the denominator used was total births (L+S). Linear regression analysis of the prevalence rate over years has been used to measure time trends. Results: In the period of 1993-2000, there were 1 264 neural tube defects among 1 189 126 total births in 30 counties/cities in China. The overall neural tube defects rate was 10.63 per 10000 births, and rates were higher (18.99 per 10 000 births) in the year 1993, lower (6.05 per 10 000 births) in 1998. The prevalence rates of anencephaly, spina bifida and encephalocele were 4.71,4.39 and 1.53 per 10 000 births respectively. Of all index NTD cases, anencephaly and spina bifida were most frequent, making up 44.3% and 41.3%, and encephalocele represented 14.4%. The stillbirth proportion was 69.3% over all index NTD cases, 95.4% in anencephaly cases, 43.7% in spina bifida, and 62.6% in encephalocele cases. Linear trend analysis indicated a significant decline for NTD rate (F=11.818, β=-0.814,P=0.014). Analysis by specific defect showed significant declines for the rates of anencephaly (P=0.004) and spina bifida (P=0.026), but no significant annual variation of encephalocele (P=0.227). Results of comparing with data reported from other surveillance systems (1994-1999) showed that the highest NTD rate (9.41 per 10000 births) was seen in China, nearly7 times the lowest rate (1.44 per 10000 births) in England and Wales. Conclusion: The overall neural tube defects rate in 30 counties/cities of China presented a significant downward trend between 1993 and 2000, and China still had the higher neural tube defects prevalence. %目的:描述中国30个县(市)1993

  4. Aneuploidy among prenatally detected neural tube defects

    Energy Technology Data Exchange (ETDEWEB)

    Hume, R.F. Jr.; Lampinen, J.; Martin, L.S.; Johnson, M.P.; Evans, M.I. [Wayne State Univ., Detroit, MI (United States)] [and others

    1996-01-11

    We have reported previously a 10% aneuploidy detection rate among 39 cases of fetal neural tube defects (NTD). Subsequently we amassed an additional experience of over 17,000 prenatal diagnosis cases over a 5-year period. During this period 106 cases of NTDs were identified; 44 with anencephaly, 62 with open spina bifida. The average maternal age of this population with NTDs was 29 years (15-40); 6 patients declined amniocentesis. Six of 100 cytogenetic studies were aneuploid; on anencephalic fetus had inherited a maternal marker chromosome, and 5 NTD cases had trisomy 18. The average maternal age of the aneuploid cases was 21 (19-40); 3 were 35 years or older. Four of 5 trisomy 18 cases had multiple congenital anomalies (MCA). The overall aneuploidy detection rate in our cohort was 5-6, while aneuploidy occurred in 2% of the isolated NTD cases, and 24% of the MCA cases. Combining the earlier experience, 4/39 aneuploidy (2 trisomy 18, 4p+, del 13q) yields an aneuploidy detection frequency of 10/145 (7%), of which most (7/10) had trisomy 18. These data support fetal karyotyping for accurate diagnosis, prognosis, and recurrence-risk counseling. 5 refs., 2 tabs.

  5. 5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects

    Energy Technology Data Exchange (ETDEWEB)

    Ou, C.Y.; Brown, V.K.; Khoury, M.J. [Centers for Disease Control and Prevention, Atlanta, GA (United States)] [and others

    1996-06-28

    Persons with a thermolabile form of the enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability of the enzyme has recently been shown to be caused by a common mutation (677C{sup {r_arrow}}T) in the MTHFR gene. We studied 41 fibroblast cultures from NTD-affected fetuses and compared their genotypes with those of 109 blood specimens from individuals in the general population. 677C{sup {r_arrow}}T homozygosity was associated with a 7.2 fold increased risk for NTDs (95% confidence interval: 1.8-30.3; p value: 0.001). These preliminary data suggest that the 677C{sup {r_arrow}}T polymorphism of the MTHFR gene is a risk factor for spina bifida and anencephaly that may provide a partial biologic explanation for why folic acid prevents these types of NTD. 13 refs., 1 fig., 1 tab.

  6. Molecular Regulation of Striatal Development: A Review

    Directory of Open Access Journals (Sweden)

    A. E. Evans

    2012-01-01

    Full Text Available The central nervous system is composed of the brain and the spinal cord. The brain is a complex organ that processes and coordinates activities of the body in bilaterian, higher-order animals. The development of the brain mirrors its complex function as it requires intricate genetic signalling at specific times, and deviations from this can lead to brain malformations such as anencephaly. Research into how the CNS is specified and patterned has been studied extensively in chick, fish, frog, and mice, but findings from the latter will be emphasised here as higher-order mammals show most similarity to the human brain. Specifically, we will focus on the embryonic development of an important forebrain structure, the striatum (also known as the dorsal striatum or neostriatum. Over the past decade, research on striatal development in mice has led to an influx of new information about the genes involved, but the precise orchestration between the genes, signalling molecules, and transcription factors remains unanswered. We aim to summarise what is known to date about the tightly controlled network of interacting genes that control striatal development. This paper will discuss early telencephalon patterning and dorsal ventral patterning with specific reference to the genes involved in striatal development.

  7. Nucleotide precursors prevent folic acid-resistant neural tube defects in the mouse.

    Science.gov (United States)

    Leung, Kit-Yi; De Castro, Sandra C P; Savery, Dawn; Copp, Andrew J; Greene, Nicholas D E

    2013-09-01

    Closure of the neural tube during embryogenesis is a crucial step in development of the central nervous system. Failure of this process results in neural tube defects, including spina bifida and anencephaly, which are among the most common birth defects worldwide. Maternal use of folic acid supplements reduces risk of neural tube defects but a proportion of cases are not preventable. Folic acid is thought to act through folate one-carbon metabolism, which transfers one-carbon units for methylation reactions and nucleotide biosynthesis. Hence suboptimal performance of the intervening reactions could limit the efficacy of folic acid. We hypothesized that direct supplementation with nucleotides, downstream of folate metabolism, has the potential to support neural tube closure. Therefore, in a mouse model that exhibits folic acid-resistant neural tube defects, we tested the effect of specific combinations of pyrimidine and purine nucleotide precursors and observed a significant protective effect. Labelling in whole embryo culture showed that nucleotides are taken up by the neurulating embryo and incorporated into genomic DNA. Furthermore, the mitotic index was elevated in neural folds and hindgut of treated embryos, consistent with a proposed mechanism of neural tube defect prevention through stimulation of cellular proliferation. These findings may provide an impetus for future investigations of supplemental nucleotides as a means to prevent a greater proportion of human neural tube defects than can be achieved by folic acid alone.

  8. Diagnosis of fetal neural tube defects by MRI

    International Nuclear Information System (INIS)

    Objective: To explore the diagnostic value of MRI on fetal neural tube defects. Methods: Ten pregnant women, aged from 25 to 35 years (average 28 years) and with gestation from 20-39 weeks (average 33 weeks) were studied with a 1.5 T superconductive MR unit within 24 to 48 hours after ultrasound (US) studies. The imaging protocol included fast-imaging employing steady-state acquisition, single-shot FSE and T1-weighted fast inversion recovery motion insensitive sequences in the axial, fromtal, and sagittal planes relative to the fetal brain, thorax, abdomen, and spines. Prenatal US and MRI findings were compared with postnatal MRI diagnoses (3 fetuses) or autopsy (7 fetuses). Results: Ten pregnant women (9 with a single fetus and 1 with twin fetuses) were examined. For all cases, the diagnoses established by MRI were correct when compared with postnatal diagnosis or autopsy. In 7 cases, US and MRI findings were in complete agreement with postnatal diagnoses. US missed the diagnosis in 1 cases and misdiagnosed in 2 cases. Ten neural tube defects in this study included anencephaly (1 case), exencephaly (1 case), meningoencephalocele associated with amniotic band sequence (1 case), meningocele (1 case), thoracic myelomeningocele (1 case), lumbar spinal bifida (1 case), sacroiliac myelomeningocele (2 cases), sacroiliac large cystic spinal meningocele (1 case), sacroiliac spinal bifida (1 case). Conclusions: Prenatal MRI is effective in the assessment of fetal neural tube defects. It can exactly discriminate herniated contents and locate the spinal lesion level. (authors)

  9. Exposure of methyl mercury in utero and the risk of neural tube defects in a Chinese population.

    Science.gov (United States)

    Jin, Lei; Liu, Ming; Zhang, Le; Li, Zhiwen; Yu, Jingru; Liu, Jianmeng; Ye, Rrongwei; Chen, Laiguo; Ren, Aiguo

    2016-06-01

    To determine if exposure to methyl mercury (MeHg) in utero is associated with an elevated risk of neural tube defects (NTDs), we measured its concentration in the placentas of 36 anencephalic and 44 spina bifida cases, as well as in 50 healthy controls. The median MeHg concentration in NTD cases (0.49ng/g) was higher than that in controls (0.33ng/g). The crude and adjusted odds ratios (ORs) for a MeHg concentration above the median were 3.54 (95% confidence interval (CI), 1.68-7.49) and 3.64 (95% CI, 1.66-7.99), respectively. Both anencephaly and spina bifida subtypes had higher levels of MeHg than the controls. NTD risk increased for subjects in the second and third highest tertile of MeHg concentrations, with an OR of 2.24 (95% CI, 0.93-5.40) and 2.85 (95% CI, 1.17-6.94), respectively. In summary, higher placental levels of MeHg are associated with an elevated risk of NTDs. PMID:27049578

  10. Folic Acid Supplementation to Reduce Neural Tube Defects During Pregnancy%围孕期补充叶酸降低神经管畸形

    Institute of Scientific and Technical Information of China (English)

    周维侠

    2014-01-01

    Neural tube defects are caused by both genetic factors and environmental factors of complex polygenic hereditary disease, a large number of epidemiological studies have found that folate deficiency and NTDs are closely related. NTDs is one of the most common birth defects. Main types with spina bifida and anencephaly. Various studies have shown around pregnancy folic acid supplementation can significantly reduce the incidence of NTDs. There are many study puts forward guidance on how to make the best of folic acid.%神经管畸形是由遗传因素与环境因素共同作用而导致的复杂的多基因遗传病,大量的流行病学研究发现叶酸缺乏和 NTDs 密切相关。NTDs 是较为常见的先天畸形,主要表现为脊柱裂和无脑畸形两种类型。经过研究表明,其所显示的围孕期补充叶酸可以对 NTDs的发病率有所降低。研究结果对最佳的叶酸补充提出参考性意见。

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

    International Nuclear Information System (INIS)

    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

  12. Prenatal death and malformations after irradiation of mouse zygotes with neutrons or X-rays

    International Nuclear Information System (INIS)

    Female mice (strain: Heiligenberger Stamm) were irradiated with neutrons (7 MeV) or X-rays when embryos were at the early zygote stage; uterine contents were examined on gestation day 19 for prenatal mortality and malformed fetuses. For both radiation qualities, the dose-dependent survival curve fitted well to a simple exponential equation; the neutron relative biological efficiency (RBE) value was 2.3. The major fraction of deaths induced by exposure to neutrons or X-rays occurred before implantation. Aside from dead embryos, malformed fetuses were observed 19 days p.c. (postconception). The number of malformed fetuses increased with a linear-quadratic function of neutron or X-ray dose. Malformations were mainly gastroschisis, although omphaloceles and anencephalies were also observed. The neutron RBE value for the induction of malformations varied from 2.0 to 2.8 in the dose range tested. Except after 75-cGy neutrons, no significant increase in the proportion of stunted or skeletally malformed fetuses was noted. Our results indicated that the reaction of preimplantation embryos to irradiation could be more complex than the simple all-or-none response considered so far

  13. FOETAL ULTRASOUND - NEUROECTODERMAL ANOMALIES IN RURAL PREGNANT WOMEN

    Directory of Open Access Journals (Sweden)

    Mala Venkata

    2016-06-01

    Full Text Available BACKGROUND A prospective clinical study to know the various types of congenital Neuroectodermal Anomalies on obstetric Ultrasound, in rural pregnant women. To reduce the maternal morbidity and mortality by early detection of these Congenital Neuroectodermal Anomalies. To calculate the incidence and prevalence of different types of Congenital Neuroectodermal Anomalies, in these rural pregnant women. To assist the obstetrician in taking decisions regarding the termination or continuation of the pregnancy in relation to the type of malformation and its prognosis. METHODS A prospective clinical study of Congenital Neuroectodermal Anomalies in 22,000 rural pregnant women coming to the Santhiram Medical College, Radiology Department for a routine obstetric scan. 44 cases of neuroectodermal anomalies were detected out of the 22000 cases, within an incidence of 2 per 1000 cases. Approximately 1 in every 500 cases showed an anomaly. RESULTS The most common lesions detected were hydrocephalus, and spina bifida followed by anencephaly. Association of these lesions with consanguinity, previous history of similar anomaly and intake of iron and folic acid tablets was noted. CONCLUSION Ultrasound is an excellent modality for the diagnosis and characterisation of the neuroectodermal anomalies. Its multiplanar imaging property along with real time image visualisation make it an excellent tool for the diagnosis and characterisation of these anomalies

  14. A Turner Syndrome Patient Carrying a Mosaic Distal X Chromosome Marker

    Directory of Open Access Journals (Sweden)

    Roberto L. P. Mazzaschi

    2014-01-01

    Full Text Available A skin sample from a 17-year-old female was received for routine karyotyping with a set of clinical features including clonic seizures, cardiomyopathy, hepatic adenomas, and skeletal dysplasia. Conventional karyotyping revealed a mosaic Turner syndrome karyotype with a cell line containing a small marker of X chromosome origin. This was later confirmed on peripheral blood cultures by conventional G-banding, fluorescence in situ hybridisation and microarray analysis. Similar Turner mosaic marker chromosome cases have been previously reported in the literature, with a variable phenotype ranging from the mild “classic” Turner syndrome to anencephaly, agenesis of the corpus callosum, complex heart malformation, and syndactyly of the fingers and toes. This case report has a phenotype that is largely discordant with previously published cases as it lies at the severe end of the Turner variant phenotype scale. The observed cytogenetic abnormalities in this study may represent a coincidental finding, but we cannot exclude the possibility that the marker has a nonfunctioning X chromosome inactivation locus, leading to functional disomy of those genes carried by the marker.

  15. Neural tube defects in the Republic of Ireland in 2009-11.

    LENUS (Irish Health Repository)

    McDonnell, R

    2014-03-18

    Neural tube defects (NTDs) are associated with deficient maternal folic acid peri-conceptionally. In Ireland, there is no mandatory folic acid food fortification, partly due to declining NTD rates in recent years. The aim of this study was to ascertain the incident rate of NTD during the period 2009-11 and describe epidemiologically NTD in Ireland.METHODSCases were ascertained through multiple sources, including three regional congenital anomaly registers, all maternity hospitals nationally and paediatric hospitals providing care for children with spina bifida in the Republic of Ireland during the period 2009-11.RESULTSFrom 225 998 total births, 236 NTDs were identified, giving an incidence of 1.04\\/1 000 births, increasing from 0.92\\/1 000 in 2009 to 1.17\\/1 000 in 2011. Of all cases, 45% (n = 106) had anencephaly, 49% (n = 115) had spina bifida and 6% (n = 15) had an encephalocoele; 78% (n = 184) were liveborn or stillborn and 22% (n = 52) were terminations abroad. Peri-conceptional folic acid supplement intake was 13.7% among the 52.5% (n = 124) of cases whose folic acid supplement intake was known.CONCLUSIONThe incidence of NTDs in the Republic of Ireland appears to be increasing. Renewed public health interventions, including mandatory folic acid food fortification, must be considered to reduce the incidence of NTD.

  16. Temporal and spatial requirements for Nodal-induced anterior mesendoderm and mesoderm in anterior neurulation.

    Science.gov (United States)

    Gonsar, Ngawang; Coughlin, Alicia; Clay-Wright, Jessica A; Borg, Bethanie R; Kindt, Lexy M; Liang, Jennifer O

    2016-01-01

    Zebrafish with defective Nodal signaling have a phenotype analogous to the fatal human birth defect anencephaly, which is caused by an open anterior neural tube. Previous work in our laboratory found that anterior open neural tube phenotypes in Nodal signaling mutants were caused by lack of mesendodermal/mesodermal tissues. Defects in these mutants are already apparent at neural plate stage, before the neuroepithelium starts to fold into a tube. Consistent with this, we found that the requirement for Nodal signaling maps to mid-late blastula stages. This timing correlates with the timing of prechordal plate mesendoderm and anterior mesoderm induction, suggesting these tissues act to promote neurulation. To further identify tissues important for neurulation, we took advantage of the variable phenotypes in Nodal signaling-deficient sqt mutant and Lefty1-overexpressing embryos. Statistical analysis indicated a strong, positive correlation between a closed neural tube and presence of several mesendoderm/mesoderm-derived tissues (hatching glands, cephalic paraxial mesoderm, notochord, and head muscles). However, the neural tube was closed in a subset of embryos that lacked any one of these tissues. This suggests that several types of Nodal-induced mesendodermal/mesodermal precursors are competent to promote neurulation.

  17. Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization

    Energy Technology Data Exchange (ETDEWEB)

    Lindsay, E.A.; Grillo, A.; Ferrero, G.B.; Baldini, A.; Ballabio, A.; Zoghbi, H.Y.; Roth, E.J. [Baylor College of Medicine, Houston, TX (United States); Magenis, E.; Grompe, M. [Oregon Health Science Univ., Portland, OR (United States); Hulten, M. [East Birmingham Hospital, Birmingham (United Kingdom)] [and others

    1994-01-15

    The microphthalmia with linear skin defects (MLS) syndrome (MIM309801) is a severe developmental disorder observed in XX individuals with distal Xp segmental monosomy. The phenotype of this syndrome overlaps with that of both Aicardi (MIM 305050) and Goltz (MIM 305600) syndromes, two X-linked dominant, male-lethal disorders. Here the authors report the clinical, cytogenetic, and molecular characterization of 3 patients with this syndrome. Two of these patients are females with a terminal Xpter-p22.2 deletion. One of these 2 patients had an aborted fetus with anencephaly and the same chromosome abnormality. The third patient is an XX male with Xp/Yp exchange spanning the SRY gene which results in distal Xp monosomy. The extensive clinical variability observed in these patients and the results of the molecular analysis suggest that X-inactivation plays an important role in determining the phenotype of the MLS syndrome. The authors propose that the MLS, Aicardi, and Goltz syndromes are due to the involvement of the same gene(s), and that different patterns of X-inactivation are responsible for the phenotypic differences observed in these 3 disorders. However, they cannot rule out that each component of the MLS phenotype is caused by deletion of a different gene (a contiguous gene syndrome). 24 refs., 4 figs., 1 tab.

  18. Regulation of pre-otic brain development by the cephalic neural crest.

    Science.gov (United States)

    Creuzet, Sophie E

    2009-09-15

    Emergence of the neural crest (NC) is considered an essential asset in the evolution of the chordate phylum, as specific vertebrate traits such as peripheral nervous system, cephalic skeletal tissues, and head development are linked to the NC and its derivatives. It has been proposed that the emergence of the NC was responsible for the formation of a "new head" characterized by the spectacular development of the forebrain and associated sense organs. It was previously shown that removal of the cephalic NC (CNC) prevents the formation of the facial structures but also results in anencephaly. This article reports on the molecular mechanisms whereby the CNC controls cephalic neurulation and brain morphogenesis. This study demonstrates that molecular variations of Gremlin and Noggin level in CNC account for morphological changes in brain size and development. CNC cells act in these processes through a multi-step control and exert cumulative effects counteracting bone morphogenetic protein signaling produced by the neighboring tissues (e.g., adjacent neuroepithelium, ventro-medial mesoderm, superficial ectoderm). These data provide an explanation for the fact that acquisition of the NC during the protochordate-to-vertebrate transition has coincided with a large increase of brain vesicles. PMID:19720987

  19. Mortalidad por defectos del tubo neural en México, 1980-1997 Mortality due to neural tube defects in Mexico, 1980-1997

    Directory of Open Access Journals (Sweden)

    José A Ramírez-Espitia

    2003-10-01

    graphically displayed on maps. RESULTS: During the 1980-1997 period the gross NTD mortality rate was 5.8 per 10000 live-born infants. Anencephaly (International Classification of Diseases ICD-9 740.0 was the most frequent type of NTD (37.7%, followed by spina bifida without hydrocephaly (CIE9 741.9 (31.6%. The national trend of NTD mortality increased between 1980 and 1990 (APC 7.5 95% CI 6.5, 8.6 and decreased between 1990 and 1997 (APC -2.3 95% CI -3.6, -0.9. CONCLUSIONS: The high NTD mortality rates were related to the high frequency of anencephaly. Also, the increase observed is not only attributable to diagnostic factors or to improved reporting. In Mexico, the influence of some NTD-associated factors such as specific genetic polymorphisms, folic acid deficit, maternal obesity, occupational exposure to pesticides, and poverty, should be assessed in specific studies.

  20. Analysis of the Application Value of Ultrasonography in the Diagnosis of Fetal Malformation of the Central Nervous System%超声检查在胎儿中枢神经系统畸形诊断中的应用价值探析

    Institute of Scientific and Technical Information of China (English)

    花秋菊; 关云萍; 项宇识

    2015-01-01

    目的:针对超声检查在胎儿中枢神经系统畸形诊断中的应用价值进行探讨分析。方法选择于2012年12月—2013年12月在该院进行产前超声诊断的70例单胎孕妇为研究对象,所有孕妇的胎儿经分娩后随访和引产后尸检证实为中枢神经系统畸形,分析超声表现和超声检查的临床符合率。结果所有胎儿中,引产68例,继续妊娠后生产2例。经病理检查证实该组胎儿严重小脑畸形1例,3例脊柱裂,11例脑膜脑膨出和脑膜膨出,23例为脑积水,31例为无脑畸形。通过产前超声检查诊断,胎儿中枢神经系统畸形包括:1例蛛网膜囊肿,3例脊柱裂,11例脑膜脑膨出和脑膜膨出,23例为脑积水,32例为无脑畸形。超声检查与病理检查结果的临床符合率98.9%,误诊率为1.1%。结论超声检查在胎儿中枢神经系统畸形诊断中的应用具有较高的诊断率,并且操作简便,无创伤,可以作为产前排除胎儿中枢神经系统畸形的重要方法。%Objective To explore and analyze the application value of ultrasonography in the diagnosis of fetal malformation of the central nervous system. Methods 70 singleton pregnant women underwent prenatal ultrasound diagnosis in our hospital from De-cember 2012 to December 2013 were selected as the subjects. All the fetuses were confirmed as malformation of the central ner-vous system by follow-up after delivery or autopsy after induced labour. And the clinical coincidence rate of ultrasonic manifesta-tions and ultrasonic examination was analyzed. Results Of all the fetuses, there were 68 cases of induced abortion, 2 cases of de-livery after continued pregnancy. It was confirmed by the pathological examination that there was 1 case with cerebellar malforma-tion, 3 cases with spina bifida, 11 cases with encephalomeningocele and meningiocele, 23 cases with hydrocephalus, 31 cases with anencephaly. The prenatal ultrasonography showed

  1. 三维彩色多普勒超声在胎儿神经管畸形中的应用分析

    Institute of Scientific and Technical Information of China (English)

    王利娜

    2016-01-01

    目的:分析胎儿神经管畸形的三维彩色多普勒超声(彩超)声像图表现与特点,探讨三维彩超在产前筛查胎儿神经管畸形的方法技巧与诊断价值。方法回顾性分析行三维彩超产前筛查的受检者中经过本院及上级医院会诊确诊的21例胎儿神经管畸形病例的超声影像学资料,分析胎儿的头颅和脊柱情况。结果21例胎儿神经管畸形病例中单发畸形19例,多发畸形2例,包括脑积水9例,脊柱裂7例,脑膜脑膨出1例,无脑儿2例,脊柱裂合并无脑儿1例,脊柱裂合并脑积水1例。结论胎儿神经管畸形的三维彩超声像图表现具有特殊性,三维彩超对孕妇及胎儿无损伤、价格低廉、检出率高,对减少漏诊率、降低医疗风险具有重要的临床意义,适合在产前筛查中推广应用。%Objective To analyze the performance and characteristics of three-dimensional ultrasonography in the diagnosis of fetal neural tube defects, and to explore the diagnostic value of three-dimensional ultrasonography in prenatal screening of fetal neural tube defects. Methods Data of 21 cases of fetal neural tube malformations were retrospectively analyzed using three-dimensional color Doppler ultrasound prenatal screening, and analysis of the fetal skull and spine situation. Results 21 cases of fetal neural tube malformation cases single deformity in 19 cases of multiple malformation in 2 cases, including 9 cases of hydrocephalus and spina bifida in 7 cases, 1 case of meningocele, anencephaly in 2 cases, spina bifida with anencephaly in 1 case, spina bifida complicated with cerebral hydrocephalus in 1 case. Conclusion Fetal neural tube deformity and three-dimensional color Doppler sonographic is special, three-dimensional color Doppler ultrasound on pregnant women and fetus without damage, low price, the detection rate is high, to reduce the rate of misdiagnosis and to reduce the medical risk is of important

  2. Can postmortem fetal MR imaging replace autopsy?

    International Nuclear Information System (INIS)

    The purposes of this study were to compare postmortem fetal MRI findings with autopsy findings and to assess whether postmortem MRI can replace autopsy. The study group consisted of 13 stillborn fetuses, seven that died immediately after birth, and five terminated because of anomalies seen on prenatal sonograms. A total 17 were male, and eight were female, and their gestational ages were from 20 to 41 (average;28.2) weeks. Spin-echo T1-and T2-weighted axial, sagittal, and coronal MR images were obtained, and autopsy findings were divided into major and minor. A major finding was defined as an anomaly or syndrome which caused fetal death or termination of the pregnancy: minor findings were classified, on the basis of gross inspection, as internal or external. MR images were retrospectively analyzed by two radiologists unaware of the autopsy findings, and by comparison with these, the postmortem MRI detection rates for major and minor findings was then determined. In seven of 25 fetuses, MR imaging revealed major findings, a dietction rate of 100%. There were two cases of anencephaly, two of trisomy-18, and one each of hydrops fetalis with large cystic hygroma, diaphragmatic hernia, and Dandy-Walker malformation. Twenty-three of 60 minor findings (38.3%) were detected by MRI. The detection rates for external and internal findings were 29.6%(8/27) and 45.5%(15/33), respectively. Although a limitation of our study is the low detection rate for minor findings, postmortem fetal MRI may help diagnose the major cause of fetal death

  3. The human brain and face: mechanisms of cranial, neurological and facial development revealed through malformations of holoprosencephaly, cyclopia and aberrations in chromosome 18.

    Science.gov (United States)

    Gondré-Lewis, Marjorie C; Gboluaje, Temitayo; Reid, Shaina N; Lin, Stephen; Wang, Paul; Green, William; Diogo, Rui; Fidélia-Lambert, Marie N; Herman, Mary M

    2015-09-01

    The study of inborn genetic errors can lend insight into mechanisms of normal human development and congenital malformations. Here, we present the first detailed comparison of cranial and neuro pathology in two exceedingly rare human individuals with cyclopia and alobar holoprosencephaly (HPE) in the presence and absence of aberrant chromosome 18 (aCh18). The aCh18 fetus contained one normal Ch18 and one with a pseudo-isodicentric duplication of chromosome 18q and partial deletion of 18p from 18p11.31 where the HPE gene, TGIF, resides, to the p terminus. In addition to synophthalmia, the aCh18 cyclopic malformations included a failure of induction of most of the telencephalon - closely approximating anencephaly, unchecked development of brain stem structures, near absence of the sphenoid bone and a malformed neurocranium and viscerocranium that constitute the median face. Although there was complete erasure of the olfactory and superior nasal structures, rudiments of nasal structures derived from the maxillary bone were evident, but with absent pharyngeal structures. The second non-aCh18 cyclopic fetus was initially classified as a true Cyclops, as it appeared to have a proboscis and one median eye with a single iris, but further analysis revealed two eye globes as expected for synophthalmic cyclopia. Furthermore, the proboscis was associated with the medial ethmoid ridge, consistent with an incomplete induction of these nasal structures, even as the nasal septum and paranasal sinuses were apparently developed. An important conclusion of this study is that it is the brain that predicts the overall configuration of the face, due to its influence on the development of surrounding skeletal structures. The present data using a combination of macroscopic, computed tomography (CT) and magnetic resonance imaging (MRI) techniques provide an unparalleled analysis on the extent of the effects of median defects, and insight into normal development and patterning of the brain

  4. Spectral luminescence analysis of amniotic fluid

    Science.gov (United States)

    Slobozhanina, Ekaterina I.; Kozlova, Nataly M.; Kasko, Leonid P.; Mamontova, Marina V.; Chernitsky, Eugene A.

    1997-12-01

    It is shown that the amniotic fluid has intensive ultra-violet luminescence caused by proteins. Along with it amniotic fluid radiated in the field of 380 - 650 nm with maxima at 430 - 450 nm and 520 - 560 nm. The first peak of luminescence ((lambda) exc equals 350 nm; (lambda) em equals 430 - 440 nm) is caused (most probably) by the presence in amniotic fluid of some hormones, NADH2 and NADPH2. A more long-wave component ((lambda) exc equals 460 nm; (lambda) em equals 520 - 560 nm) is most likely connected with the presence in amniotic fluid pigments (bilirubin connected with protein and other). It is shown that intensity and maximum of ultra-violet luminescence spectra of amniotic fluid in normality and at pathology are identical. However both emission spectra and excitation spectra of long-wave ((lambda) greater than 450 nm) luminescence of amniotic fluid from pregnant women with such prenatal abnormal developments of a fetus as anencephaly and spina bifida are too long-wave region in comparison with the norm. Results of research testify that spectral luminescent analysis of amniotic fluid can be used for screening of malformations of the neural tube. It is very difficult for a practical obstetrician to reveal pregnant women with a high risk of congenital malformations of the fetus. Apart from ultrasonic examination, cytogenetic examination of amniotic fluid and defumination of concentrations of alpha-fetoprotein and acetylcholin-esterases in the amniotic fluid and blood plasma are the most widely used diagnostic approaches. However, biochemical and cytogenetic diagnostic methods are time-consuming. In the present work spectral luminescence properties of the amniotic fluid are investigated to determine spectral parameters that can be used to reveal pregnant women with a high risk of congenital malformations of their offsprings.

  5. Valproic acid in pregnancy: how much are we endangering the embryo and fetus?

    Science.gov (United States)

    Ornoy, Asher

    2009-07-01

    Valproic acid (VPA) is a known human teratogen. Exposure in pregnancy is associated with approximately three-fold increase in the rate of major anomalies, mainly spina bifida and only rarely anencephaly (NTD), cardiac, craniofacial, skeletal and limb defects and a possible set of dysmorphic features, the "valproate syndrome" with decreased intrauterine growth. This was demonstrated by prospective and retrospective studies. There is also, mainly in the children with the "valproate syndrome", a significant increase in the rate of developmental problems, manifested by decreased verbal intelligence often with communication problems of the autistic spectrum disorder (ASD). VPA is teratogenic in most animal species tested, but the human embryo seems to be the most susceptible. A daily dose of 1000 mg or more and/or polytherapy are associated with a higher teratogenic risk. It seems that several other AEDs potentiate the teratogenic effects of VPA. Thus, when valproate cannot be avoided in pregnancy, the lowest possible effective dose should be prescribed in 2-3 divided doses, preferably as monotherapy. Women exposed to valproate in pregnancy should be given periconceptional folic acid and followed up in a high risk pregnancy clinic. Appropriate ultrasonographic and other examinations, focusing on the possible different anomalies described with this agent, should be carried out. The specific inhibition by VPA of histone deacetylase and changes in gene expression may explain the teratogenicity of this drug. Other possible explanations are: increased fetal oxidative stress induced by VPA, with the brain being more susceptible to oxidative stress in comparison to other fetal organs, or the folic acid inhibitory action of this drug. PMID:19490988

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

    Science.gov (United States)

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

    2015-01-16

    Neural tube defects (NTDs) include anomalies of the brain (anencephaly and encephalocele) and spine (spina bifida). Even with ongoing mandatory folic acid fortification of enriched cereal grain products, the U.S. Preventive Services Task Force recommends that women of childbearing potential consume a daily supplement containing 400 µg-800 µg of folic acid. Women with a prior NTD-affected pregnancy have an increased risk for having another NTD-affected pregnancy, and if they are planning another pregnancy, the recommendation is that they consume high-dosage folic acid supplements (4.0 mg/day) beginning ≥4 weeks before conception and continuing through the first 12 weeks of pregnancy. To learn whether folic acid supplementation (from multivitamins or single- ingredient supplements) was commonly used during pregnancy by women with a previous NTD-affected pregnancy, supplement use was assessed among a convenience sample of women with a previous NTD-affected pregnancy who participated in the National Birth Defects Prevention Study (NBDPS), a case-control study of major birth defects in the United States. Characteristics of women who previously had an NTD-affected pregnancy and whose index pregnancy (pregnancy included in NBDPS) was either affected by an NTD (N = 17) (i.e., recurrence-cases) or resulted in a live-born infant without a major birth defect (N = 10) (i.e., recurrence-controls) were assessed. Taking a supplement that included folic acid was more common among recurrence-control mothers (80%) than recurrence-case mothers (35%). The recommendation that women should take folic acid supplements just before and during early pregnancy is not being followed by many women and offers an opportunity for NTD prevention, especially among women who are at a higher risk because they have had a previous pregnancy affected by an NTD. PMID:25590679

  7. When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina.

    Science.gov (United States)

    Bupp, Caleb P; Sarasua, Sara M; Dean, Jane H; Stevenson, Roger E

    2015-10-01

    Neural tube defects (NTDs) are the most common of the severe malformations of the brain and spinal cord. Increased maternal intake of folic acid (FA) during the periconceptional period is known to reduce NTD risk. Data from 1046 NTD cases in South Carolina were gathered over 20 years of surveillance. It was possible to determine maternal periconceptional FA use in 615 NTD-affected pregnancies. In 163 occurrent (26.9%) and two recurrent (22%) NTD cases, the mothers reported periconceptional FA use. These women were older and more likely to be white. Maternal periconceptional FA usage was reported in 40.4% of cases of spina bifida with other anomalies but in only 25.2% of isolated spina bifida cases (P = 0.02). This enrichment for associated anomalies was not noted among cases of anencephaly or of encephalocele. Among the 563 subsequent pregnancies to mothers with previous NTD-affected pregnancies, those taking FA had a 0.4% NTD recurrence rate, but the recurrence without FA was 8.5%. NTDs with other associated findings were less likely to be prevented by FA, suggesting there is a background NTD rate that cannot be further reduced by FA. Nonetheless, the majority (73.9%) of NTDs in pregnancies in which the mothers reported periconceptional FA use were isolated NTDs of usual types. Cases in which FA failed in prevention of NTDs provide potential areas for further study into the causation of NTDs. The measures and techniques implemented in South Carolina can serve as an effective and successful model for prevention of NTD occurrence and recurrence. PMID:26108864

  8. 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 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.

  9. Morphological evaluation of fetus CNS and its related anomalies; The advantages and limitations of prenatal diagnosis by means of MRI, US, and CT

    Energy Technology Data Exchange (ETDEWEB)

    Oi, Shizuo; Tamaki, Norihiko; Matsumoto, Satoshi; Katayama, Kazuaki; Mochizuki, Matsuto (Kobe Univ. (Japan). School of Medicine)

    1989-08-01

    The fetal central nervous system was evaluated morphologically by ultrasonography (US), magnetic resonance imaging (MRI), and CT scan to analyze the prenatal diagnostic value for anomalies. A total of 31 patients with 42 lesions had been diagnosed during the preceding 7 years. The patients included 24 with hydrocephalus, three with anencephaly, three with myeloschisis, three with holoprosencephaly, three with an encephalocele, two with a Dandy-Walker cyst, one with hydroencephalodysplasia, one with an intracranial neoplasm, one with sacrococcygeal teratoma, and one with sacral agenesis. Compared with US and MRI, CT proved to be more accurate in the detection of spine and cranium-bone morphology. This finding seems to be valuable in the diagnosis of spina bifida, cranium bifidum and some cases of hypertensive hydrocephalus, especially in the axial view. MRI was definitely superior in the anatomico-pathological diagnosis of cerebral dysgenesis, ventriculomegaly, intracranial tumors, and other brain parenchymal changes in view of multi-dimensional analysis. MRI performed poorly in the diagnosis of spine and cranium morphology. A super-conducting MRI system is still insufficient to demonstrate the spinal cord of a fetus. US used routinely and multidimensional slices were valuable for screening the CNS abnormalies. Intracranial hematomas had a specific echogenecity on US. However, US sometimes failed to demarcate the cerebral parenchymal or subdural morphological changes because its artifacts had hyperchoic shadows. While US, MRI, and CT were valuable diagnostic tools in the morphological evaluation of fetal CNS anomalies, each modality has different advantages and disadvantages. Diagnostic advandage,depending on the nature of the anamoly, can be achieved by using the complementary imaging modalities.

  10. 羊水过多的超声诊断分析%The Analysis of Ultrasonic Diagnosis in Polyhydramnios

    Institute of Scientific and Technical Information of China (English)

    刘书红

    2015-01-01

    目的:探讨羊水过多的超声诊断及临床意义。方法选取2010年6月~2014年6月收治的21例羊水过多的超声诊断资料进行分析。结果彩色多普勒超声诊断羊水过多21例,臀位5例,脐绕颈4例,羊水浑浊6例,胎儿宫内发育迟缓2例,胎儿畸形4例。结论超声诊断最大羊水暗区垂直深度(AFV)≥8 cm可考虑羊水过多。羊水指数(AFI)>20 cm时,羊水过多的诊断可以成立。B超还可以同时对无脑儿、脑积水、脊柱裂等胎儿畸形或多胎妊娠做出诊断。%Objective To study the ultrasonic diagnosis and clinical significance in polyhydramnios. Methods To analysis the 21 cases patients in ultrasonic diagnosis polyhydramnios which were chosen from June 2010 to June 2014. Results 21 cases of the color doppler ultrasound diagnosis of hydramnios, 5 cases were breech, 4 cases were umbilical cord around neck, 6 cases were amniotic fluid turbidity, 2 cases were intrauterine growth retardation, and 4 cases were fetal abnormalities. Conclusion The ultrasound diagnosis of amniotic fluid dark area vertical depth (AFV) was more than 8 cm, the polyhydramnios may be considered. Amniotic fluid index (AFI) was more than 20 cm, the hydramnios diagnosis can be established. Ultrasound can also diagnose the hydrocephalus anencephaly, spina bifida fetus malformation or multiple pregnancy diagnosis.

  11. Prenatal exposure to fenugreek impairs sensorimotor development and the operation of spinal cord networks in mice.

    Directory of Open Access Journals (Sweden)

    Loubna Khalki

    Full Text Available Fenugreek is a medicinal plant whose seeds are widely used in traditional medicine, mainly for its laxative, galactagogue and antidiabetic effects. However, consumption of fenugreek seeds during pregnancy has been associated with a range of congenital malformations, including hydrocephalus, anencephaly and spina bifida in humans. The present study was conducted to evaluate the effects of prenatal treatment of fenugreek seeds on the development of sensorimotor functions from birth to young adults. Pregnant mice were treated by gavage with 1 g/kg/day of lyophilized fenugreek seeds aqueous extract (FSAE or distilled water during the gestational period. Behavioral tests revealed in prenatally treated mice a significant delay in righting, cliff avoidance, negative geotaxis responses and the swimming development. In addition, extracellular recording of motor output in spinal cord isolated from neonatal mice showed that the frequency of spontaneous activity and fictive locomotion was reduced in FSAE-exposed mice. On the other hand, the cross-correlation coefficient in control mice was significantly more negative than in treated animals indicating that alternating patterns are deteriorated in FSAE-treated animals. At advanced age, prenatally treated mice displayed altered locomotor coordination in the rotarod test and also changes in static and dynamic parameters assessed by the CatWalk automated gait analysis system. We conclude that FSAE impairs sensorimotor and coordination functions not only in neonates but also in adult mice. Moreover, spinal neuronal networks are less excitable in prenatally FSAE-exposed mice suggesting that modifications within the central nervous system are responsible, at least in part, for the motor impairments.

  12. Morphological evaluation of fetus CNS and its related anomalies

    International Nuclear Information System (INIS)

    The fetus central nervous system was evaluated morphologically by ultrasonography (US), magnetic resonance imaging (MRI), and CT scan to analyze the prenatal diagnostic value for CNS anomalies. A total of 31 patients with 42 lesions had been diagnosed during the preceding 7 years. The patients included 24 with hydrocephalus, three with anencephaly, three with myeloschisis, three with holoprosencephaly, three with an encephalocele, two with a Dandy-Walker cyst, one with hydroencephalodysplasia, one with an intracranial neoplasm, one with sacrococcygeal teratoma, and one with sacral agenesis. Compared with US and MRI, CT proved to be more accurate in the detection of spine and cranium-bone morphology. This finding seems to be valuable in the diagnosis of spina bifida, cranium bifidum and some cases of hypertensive hydrocephalus, especially in the axial view. MRI was definitely superior in the anatomico-pathological diagnosis of cerebral dysgenesis, ventriculomegaly, intracranial tumors, and other brain parenchymal changes in view of multi-dimensional analysis. The most considerable disadvantage of MRI in the diagnosis of a fetus CNS anomaly is the poor information about spine and cranium morphology. A super-conducting MRI system is still insufficient to demonstrate the spinal cord of a fetus. US was routinely used, and the multidimensional slices were useful for screening the CNS abnormalies. Some of the fetus brain lesions, such as intracranial hematomas, had a specific echogenecity on US. However, US sometimes failed to demarcate the cerebral parenchymal or subdural morphological changes because its artifacts had hyperchoic shadows. While US, MRI, and CT were valuable diagnostic tools in the morphological evaluation of fetus CNS and its related anomalies, each modality has different diagnostic advantages and disadvantages. Improvement can be expected when these diagnostic imaging modalities are complementary, depending upon the nature of the anatomy. (J.P.N.)

  13. Levels of Folate Receptor Autoantibodies in Maternal and Cord Blood and Risk of Neural Tube Defects in a Chinese population

    Science.gov (United States)

    Yang, Na; Wang, Linlin; Finnell, Richard H.; Li, Zhiwen; Jin, Lei; Zhang, Le; Cabrera, Robert M.; Ye, Rongwei; Ren, Aiguo

    2016-01-01

    Background After years of periconceptional folic acid supplementation, the prevalence of neural tube defects (NTDs) remains stable following the remarkable reduction observed immediately after the fortification practice. There is accumulating evidence that folate receptor (FR) autoimmunity may play a role in the etiology of folate-sensitive NTDs. Methods From 2011 to 2013, 118 NTD cases and 242 healthy controls were recruited from a population-based birth defects surveillance system in Northern China. Enzyme-linked immunosorbent assay was used to measure FR autoantibodies in maternal and cord blood. Logistic regression models were used to estimate the odds ratios (OR) and 95% confidence intervals (95% CI). Results Plasma FR autoantibodies levels were significantly elevated in mothers of infants with NTDs compared with mothers of healthy controls. Using the lowest tertile as the referent group, 2.20-fold (95% CI, 0.71–6.80) and 5.53-fold increased odds (95% CI, 1.90–16.08) of NTDs were observed for the second and third tertile of immunoglobulin G (IgG), respectively, and the odds of NTDs for each successive tertile of IgM was 0.98 (95% CI, 0.35–2.75) and 3.49 (95% CI, 1.45–8.39), respectively. A dose–response relationship was found between FR autoantibodies levels and risk of NTDs (P < 0.001 for IgG, P = 0.002 for IgM). The same pattern was observed in both subtypes of spina bifida and anencephaly. No significant difference in levels of cord blood FR autoantibodies was observed. Conclusion Higher levels of FR autoimmunity in maternal plasma are associated with elevated risk of NTDs in a dose–response manner. PMID:27166990

  14. A reproductive history of mothers with spina bifida offspring-a new look at old issues

    Directory of Open Access Journals (Sweden)

    Farley Thomas L

    2006-08-01

    Full Text Available Abstract Background Spina bifida is a disorder of the cerebrospinal fluid system associated with failure of neural tube closure in the fetus. Reproductive history studies of mothers with spina bifida offspring have often been conducted shortly after the affected child's birth. In this study, a large group of community-based mothers were studied after most had completed their families. The aims were to present a more comprehensive reproductive history and to test several hypotheses regarding the nature of spina bifida. Methods Data from 271 mothers was collected by interview 18.3 mean years after the affected child's birth. Data analysis was by χ-square, Fisher exact test and t test with a p value less than 0.05 considered significant. Results Females made up 56.5% of affected offspring (probands and 53.1% of unaffected offspring. The spina bifida and anencephaly recurrence rate was 4.0%. The twinning rate was 8.6/1000 live births. 24.4% of mothers had a history of spontaneous abortion and the rate varied by pregnancy order from 87 to 185/1000 live births. Duration of pregnancies subsequent to probands was shorter for female than male probands. Mean birth weight of probands with high lesions exceeded those with low lesions. A spontaneous abortion preceded female probands more often than males as compared to live births. Affected males with high lesions conceived by white mothers were at greater risk to be spontaneously aborted. Previous inter-gestational interval for mothers with no history of spontaneous abortion was longer for probands than unaffected offspring but not for mothers with a history of spontaneous abortion. Conclusion Overall, and for every major subgroup of these mothers, more affected and unaffected female than male offspring were born. Differences by gender and lesion level among probands and between probands and unaffected offspring were consistent with an etiology of unknown genetic factors, hormonal and/or immune system

  15. Marijuana, Spice 'herbal high', and early neural development: implications for rescheduling and legalization.

    Science.gov (United States)

    Psychoyos, Delphine; Vinod, K Yaragudri

    2013-01-01

    Marijuana is the most widely used illicit drug by pregnant women in the world. In utero exposure to Δ⁹-tetrahydrocannabinol (Δ⁹-THC), a major psychoactive component of marijuana, is associated with an increased risk for anencephaly and neurobehavioural deficiencies in the offspring, including attention deficit hyperactivity disorder (ADHD), learning disabilities, and memory impairment. Recent studies demonstrate that the developing central nervous system (CNS) is susceptible to the effects of Δ⁹-THC and other cannabimimetics, including the psychoactive ingredients of the branded product 'Spice' branded products. These exocannabinoids interfere with the function of an endocannabinoid (eCB) system, present in the developing CNS from E12.5 (week 5 of gestation in humans), and required for proliferation, migration, and differentiation of neurons. Until recently, it was not known whether the eCB system is also present in the developing CNS during the initial stages of its ontogeny, i.e. from E7.0 onwards (week 2 of gestation in humans), and if so, whether this system is also susceptible to the action of exocannabinoids. Here, we review current data, in which the presence of an eCB system during the initial stage of development of the CNS is demonstrated. Furthermore, we focus on recent advances on the effect of canabimimetics on early gestation. The relevance of these findings and potential adverse developmental consequences of in utero exposure to 'high potency' marijuana, Spice branded products and/or cannabinoid research chemicals during this period is discussed. Finally, we address the implication of these findings in terms of the potential dangers of synthetic cannabinoid use during pregnancy, and the ongoing debate over legalization of marijuana.

  16. Comparative Evaluation of Diagnostic Value of Prenatal USG and MRI in the Diagnosis of Fetal Central Nervous System Defects

    Directory of Open Access Journals (Sweden)

    I. Herman-Sucharska

    2011-05-01

    Full Text Available Background/Objective: The purpose of the study was"nto compare the diagnostic values of prenatal ultrasound"nand MRI in fetal central nervous system defects."nPatients and Methods: Three-hundred eighty-five"nMRIs were performed in pregnant women with the"nultrasound suspicion of fetal defect. US was conducted"nwith the Voluson-Kretz730PRO. In 158 cases (41%"nfetal CNS defect was found. MR was performed with the"n1.5T system, torso surface coil, SSFSET2 sequence. MR"nresults were compared with prenatal US and verified"nafter the delivery by physical tests, US, TK and surgery"nor in cases of infant death with a pathomorphological"nexamination."nResults: Of 158 infants, eight died after delivery, 93 were"nconsulted in the neurosurgical clinic, 19 underwent a"nneurosurgery treatment and the remaining seven infants'"nfate is unknown. Fetal MRI widened the pertinent US"ndiagnoses in 62%. The 100% compliance is pertained"nto hydrocephalus and anencephaly. US results failed"nin some cases of corpus callosum agenesis, aqueductal"nstenosis, intracranial cyst, holoprosencephaly,"nschizencephaly, Dandy-Walker complex, syringomyelia,"ndiplomyelia and myelomeningocele. In 15 cases, MRI"ncompletely changed the prognosis and treatment"n(holoprosencephaly, myelomeningocoele, diplomyelia,"nintracranial cyst, lung hypoplasia, urinary bladder"nagenesis-not detected during prenatal US. Postnatal"nexaminations and surgery confirmed the results of"nprenatal MRI."nConclusion: MRI compared with prenatal US proved"nbetter effectiveness in imaging of fetal CNS defects,"nespecially in the imaging of the posterior fossa structures,"nthe ventricular system, the corpus callosum, the"nevaluation of meningocoele contents and the complex"nmalformations of the central nervous system.

  17. 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

  18. 羊水过多的超声诊断分析%The Analysis of Ultrasonic Diagnosis in Polyhydramnios

    Institute of Scientific and Technical Information of China (English)

    刘书红

    2015-01-01

    Objective To study the ultrasonic diagnosis and clinical significance in polyhydramnios. Methods To analysis the 21 cases patients in ultrasonic diagnosis polyhydramnios which were chosen from June 2010 to June 2014. Results 21 cases of the color doppler ultrasound diagnosis of hydramnios, 5 cases were breech, 4 cases were umbilical cord around neck, 6 cases were amniotic fluid turbidity, 2 cases were intrauterine growth retardation, and 4 cases were fetal abnormalities. Conclusion The ultrasound diagnosis of amniotic fluid dark area vertical depth (AFV) was more than 8 cm, the polyhydramnios may be considered. Amniotic fluid index (AFI) was more than 20 cm, the hydramnios diagnosis can be established. Ultrasound can also diagnose the hydrocephalus anencephaly, spina bifida fetus malformation or multiple pregnancy diagnosis.%目的:探讨羊水过多的超声诊断及临床意义。方法选取2010年6月~2014年6月收治的21例羊水过多的超声诊断资料进行分析。结果彩色多普勒超声诊断羊水过多21例,臀位5例,脐绕颈4例,羊水浑浊6例,胎儿宫内发育迟缓2例,胎儿畸形4例。结论超声诊断最大羊水暗区垂直深度(AFV)≥8 cm可考虑羊水过多。羊水指数(AFI)>20 cm时,羊水过多的诊断可以成立。B超还可以同时对无脑儿、脑积水、脊柱裂等胎儿畸形或多胎妊娠做出诊断。

  19. INCIDENCE OF GESTATIONAL DIABETES MELLITUS AND ITS OUTCOMES IN A RURAL POPULATION

    Directory of Open Access Journals (Sweden)

    Kalpana

    2013-03-01

    Full Text Available ABSTRACT: BACKGROUND: Gestational diabetes mellitus (GDM is a disorder o f carbohydrate metabolism with grave consequences for both the mother and child. Numerous methodologies for the diagnosis of GDM have been pro posed. We used the Diabetes in pregnancy study group India (DIPSI procedure to diag nose GDM. The objectives of this study are to find out the incidence of gestational diabet es mellitus in pregnant women and their pregnancy outcomes in a rural setting. MATERIALS AND METHODS: It is a hospital based prospective study performed on 400 pregnant women betwe en 24 to 28 weeks of gestation over a period of one year. All were given a 75 gms o ral glucose load, irrespective of their last meal, and venous plasma glucose was estimated after 2 hours. Cases with 2 hours plasma glucose value ≥140 mg% were diagnosed as GDM. All G DM patients were followed up and treated with medical nutrition therapy (MNT and/or insulin therapy till delivery to know the maternal and foetal outcomes. RESULTS: The incidence of GDM was 5.7 % using the DIPSI method. GDM was observed more frequently in age ≥25 years (34.8%, BMI ≥25 (39.1%, past history of GDM (4.3%, family history (13%, histor y of previous pregnancy loss (8.7%, and history of polyhydramnios (8.7%. The foetal and mat ernal outcomes in GDM were: anencephaly (4.3%, gestational hypertension (8.7%, macrosomia (13.0% and preterm delivery (17.4%. CONCLUSION: Women with GDM are at an increased risk for adverse obstetric and perinatal outcome. Screening the pregna nt women for GDM and achieving euglycemia can prevent maternal and foetal complicat ions. Hence, universal instead of selective screening should be mandatory. DIPSI procedure is a one step cost effective procedure for diagnosis and management of GDM.

  20. [Endocrino-pharmacological study of reproduction: Role and biosynthesis of steroid hormones in the feto-placental unit].

    Science.gov (United States)

    Hirai, M; Masubuchi, Y; Komoriyama, K

    1981-03-01

    Although considerable information is available concerning steroidogenesis in the human fetus, the function of the different steroids formed during pregnancy and the factors regulating this delicate hormones balance are poorly understood. During human pregnancy, the placenta synthesizes large quantities of progesterone, estradiol, estrone and estriol and secretes these hormones into both the maternal and fetal circulations; progesterone from maternal lipoprotein-cholesterol, estradiol and estrone from maternal and fetal dehydroepiandrosterone sulfate (DHAS), and estriol largely from fetal 16 alpha-OH-DHAS. It has been demonstrated that preimplantation blastocysts of several animal species have the capacity to accumulate steroids to pregnenolone to progesterone, and to interconvert estrone and estradiol. Estetrol (E4), 15 alpha-hydroxy derivative of estriol is an interesting compound, since its formation is relatively unique to fetal liver function. Of special interest is that placental sulfatase deficiencies result in an extension of the gestation, and Cesarean section has to be done. This raises the question of the role of estrogens in determining the onset of labor, much as in the case of anencephaly. In general, progesterone may decline prior to an abortion, but there has not been a direct application to clinical practice. Estrogen levels during pregnancy are influenced by factors other than fetal well-being and include fetal weight, placental enzyme function, fetal adrenal function, maternal intestinal flora, maternal renal excretion and maternal liver function. Although not yet extensively utilized, such a dynamic test as the infusion of DHAS may yield useful information within a short period in otherwise complicated cases related to fetal and placental function. PMID:6762983

  1. 超声在产前诊断胎儿颅脑疾病中的应用%Application of ultrasonography in screening the defects of fetal brain and skull

    Institute of Scientific and Technical Information of China (English)

    焦光琼; 徐惠英; 洪向丽; 殷舫; 谭晶

    2010-01-01

    Objective To explore the application of three-dimensional (3D) ultrasonography in screening the defects of fetal brain and skull.Methods Thirty-one cases of the fetal were detected in 3D ultrasonography.The ultrasonic data were compared with magnetic resonance imaging(MRI) and pathology.Results Among 31 cases according to 3D ultrasonography,there were 2 of anencephaly, 1 of exencephaly,2 of encephalocele,5 of holoprosencephaly,2 of arachnoidcyst, 1 of vein of Galen aneurysm,2 of agenesis of the corpus callosum, 1 of schizencephaly, 3 of Dandy-Walker syndrome, 7 of ventriculomegaly, and 5 of enlargement of cisterna magna.Compared with the results of MRI,the diagnostic accordance rate was 100% by 3D,it was 93.5% by 2D.Conclusions The structure of fetal brain and skull were viewed more clearly in 3D ultrasonography than 2D ultrasonography and the defects of fetal brain and skull can screened more exactly.%目的 探讨超声检查在产前诊断胎儿颅脑疾病中的应用价值.方法 对31例患胎儿颅脑疾病孕妇行二维超声、三维超声、磁共振检查,并与病理结果对照分析.结果 31例胎儿超声提示2例无脑儿,1例露脑,2例脑膨出,5例全前脑,2例蛛网膜囊肿,1例Galen静脉瘤,2例胼胝体发育不全,1例脑裂,3例Dandy-Walker畸形,7例侧脑室扩张,5例颅后窝池增宽,通过磁共振检查核对,三维超声诊断符合率100%,二维超声诊断符合率93.5%.结论 超声检查在胎儿颅脑疾病中有很高价值,三维超声比二维超声检查更直观.

  2. Application of ultrasound differential diagnosis in abnormalities of fetus central nerve system%超声鉴别诊断技术在胎儿中枢神经系统畸形诊断中的应用

    Institute of Scientific and Technical Information of China (English)

    邓学东; 李红; 梁青; 常红梅; 姜小力; 唐亚奇; 梁泓; 冯鸿; 陆伟

    2011-01-01

    Objective To improve the clinical application of ultrasound differential diagnosis in abnormalities of fetus central nerve system. Methods Ultrasound imaging features in 217 cases of abnormalities in central nerve system confirmed by autopsy or follow-up were analyzed retrospectively. Results A total of 217 cases of anomaly in the central never system were examined prenatally by ultrasound and each showed typical imaging feature. Among these cases , there were 45 cases of anencephaly, 4 cases of hydranencephaly, 5 cases of arachnoid' s cyst, 2 cases of aneurysm of the vein of Galen, 78 cases of ventriculomegaly ( among them 46 cases of aqueduct stenosis), 13 cases of cephalocele, 17 cases of Dandy-Walker complex, 23 cases of spina bifida, 9 cases of holoprosencephaly, 5 cases of agenesis of the corpus callosum,8 cases of sacrococcygeal teratoma and 8 cases of choroid plexus cysts.Conclusion Application of ultrasound differential diagnosis by ultrasound for detection of abnormalities in fetus central nerve system( i. e. three sections and 12clues ), is extremely important.%目的 探讨产前超声鉴别诊断技术在胎儿中枢神经系统畸形诊断中的应用.方法 对经随访或引产证实217例中枢神经系统畸形的声像图特征进行回顾性分析.结果 产前超声诊断217例胎儿中枢神经系统畸形,其中无脑儿45例、水脑畸形4例、蛛网膜囊肿5例、Galen静脉瘤2例、脑室扩张78例(其中46例是中脑导水管狭窄)、脑膨出13例、Dandy-Walker综合征17例、开放性脊柱裂23例、前脑无裂畸形9例、胼胝体缺失5例、骶尾部畸胎瘤8例、脉络丛囊肿8例.结论 掌握超声检查胎儿中枢神经系统畸形的鉴别诊断技术,即三个切面和12种分析思路,对产前超声检查极为重要.

  3. Trisomy 2p: Analysis of unusual phenotypic findings

    Energy Technology Data Exchange (ETDEWEB)

    Lurie, I.W.; Ilyina, H.G.; Gurevich, D.B. [Belorussian Research Institute of Hereditary Disease, Minsk (Russian Federation)] [and others

    1995-01-16

    We present three probands with partial trisomies 2p21-23 due to ins(4;2)(q21;p21p23) pat, 2p23-pter due to t(2;4)(p23;q35)mat, and 2p21-pter due to t(2;11)(p21;q23.3)mat. More than 50 cases of partial trisomy 2p have been reviewed and some abnormalities, unusual for most other types of structural autosomal imbalance, have been found in patients with inherited forms of 2p trisomy and in their non-karyotyped sibs. Neural tube defects (anencephaly, occipital encephalocele, and spina bifida) were found in five probands and 4/6 affected non-karyotyped sibs. The only triplicated segment common to all was 2p24. Different forms of {open_quotes}broncho-pulmonary a/hypoplasia{close_quotes} (including two cases of lung agenesis) were described in four patients (overlapping triplicated segment was 2p21-p25). Three patients (with overlapping triplicated segment 2p23-p25) had diaphragmatic hernia. Abnormal rotation of the heart or L-transposition of large vessels (with or without visceral heterotaxia) was found in two infants (overlapping triplicated segment 2p23-p24). In two patients with common triplicated segment 2p22.3-p25, neuroblastoma has been described. The occurrence of all these defects may be explained either by the action of the same gene(s) mapped to 2p24 or by action of some independent factors located in different segments of the short arm. Although the latter hypothesis is much less probable, it can not be rejected at the present time. We propose the existence of a genetic system controlling surveillance of an abnormal embryo to explain the phenotypic differences between patients with the same imbalance within a family. In some {open_quotes}restrictive{close_quotes} combinations the abnormal embryos will die, although in {open_quotes}permissive{close_quotes} combinations they can survive. 47 refs., 2 figs., 3 tabs.

  4. 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

  5. Maternal Consumption of Non-Staple Food in the First Trimester and Risk of Neural Tube Defects in Offspring

    Directory of Open Access Journals (Sweden)

    Meng Wang

    2015-04-01

    Full Text Available To study the associations between maternal consumption of non-staple food in the first trimester and risk of neural tube defects (NTDs in offspring. Data collected from a hospital-based case-control study conducted between 2006 and 2008 in Shandong/Shanxi provinces including 459 mothers with NTDs-affected births and 459 mothers without NTDs-affected births. Logistic regression models were used to examine the associations between maternal consumption of non-staple food in the first trimester and risk of NTDs in offspring. The effects were evaluated by odds ratio (OR and 95% confidence intervals (95% CIs with SAS9.1.3.software. Maternal consumption of milk, fresh fruits and nuts in the first trimester were protective factors for total NTDs. Compared with consumption frequency of ˂1 meal/week, the ORs for milk consumption frequency of 1–2, 3–6, ≥7 meals/week were 0.50 (95% CI: 0.28–0.88, 0.56 (0.32–0.99, and 0.59 (0.38–0.90, respectively; the ORs for fresh fruits consumption frequency of 1–2, 3–6, ≥7 meals/week were 0.29 (95% CI: 0.12–0.72, 0.22 (0.09–0.53, and 0.32 (0.14–0.71, respectively; the ORs for nuts consumption frequency of 1–2, 3–6, ≥7 meals/week were 0.60 (95% CI: 0.38–0.94, 0.49 (0.31–0.79, and 0.63 (0.36–1.08, respectively. Different effects of above factors on NTDs were found for subtypes of anencephaly and spina bifida. Maternal non-staple food consumption of milk, fresh fruits and nuts in the first trimester was associated with reducing NTDs risk in offspring.

  6. Comparison of Ultrasound and MRI in Detecting Fetal Anomalies

    Directory of Open Access Journals (Sweden)

    R. Abdi

    2005-08-01

    Full Text Available Introduction & Background: Ultrasound (US and MRI are considered complementary technologies, and MRI is utilized as an adjunct to US in the evaluation of fetal anomalies. Overall ultrasound remains the prime mo-dality for evaluating disorders of the fetus and pregnancy. Ultrasound continues to have several obvious advan-tages over MRI. It is safe and relatively inexpensive and is widely available It also allows for real-time imaging. However, US does have important limitations. First, it is uniquely operator-and interpreter-dependent. In ad-dition, compared to MRI, US provides a smaller field-of-view, and the resolution of US images is restricted by penetration through soft tissues and bone. Thus, the sensitivity of US in evaluating the fetus is reduced in obese patients and in women whose pregnancies are complicated by low amniotic fluid volume. There is a growing body of literature on the use of MRI and has documented its usefulness in confirming or expanding upon US findings. On the contrary, MRI visualization of the fetus is not significantly limited by maternal obe-sity, fetal position, or oligohydramnios, and visualization of the brain is not restricted by the ossified skull. It provides superior soft-tissue contrast resolution and the ability to distinguish individual structures such as lung, liver, kidney, bowel, and gray and white matter. Patients & Methods: In this study, patients in the second and third trimesters of pregnancy were recruited on the basis of abnormal fetal US results within 2 days of MR imaging by another radiologist. Results: In some cases such as anencephaly which is associated with polyhydraminous or in multicystic dys-plastic kidney disease, MRI added no more information to ultrasonography; but in the following cases MRI had more data. In a fetus with bilateral hydronephrosis, MRI could differentiate PUV from UPJ stenosis by visualizing distention of the ureters. MRI allowed better depiction of complex anomalies

  7. CLINICAL STUDY TO EVALUATE THE MATERNAL AND PERINATAL OUTCOME OF PREGNANCIES WITH POLYHYDRAMNIOS

    Directory of Open Access Journals (Sweden)

    Sudha

    2013-10-01

    Full Text Available ABSTRACT: BACKGROUND : Due to active involvement of fetal system in regulation of amn iotic fluid volume, AFI has been identified as indicator of intrauterine fetal status. USG has revolutionized the process of assessment of amniotic fluid thus becoming an integral part of fetal surveillance . Polyhydramnios is an obstetrical condition assoc iated with significant perinatal and maternal morbidity and mortality. In a low resource health facility as India with poor coverage of antenatal care and malnutrition it still becomes more important to screen pregnancies for such high risk factors. AIMS: 1. To study incidence of polyhydramnios. 2. To identify major etiological factors of polyhydramnios. 3. To study perinatal outcome. SETTINGS AND DESIGN: A hospital based cross section study for duration from 1 st May 2009 to 31 st October 2010. MATERIAL & ME THOD: All the cases identified as polyhydramnios according to AFI in four pocket were included in the study. The cases identified as having polyhydramnios but not delivered at the facility were excluded. OBSERVATION: Incidence of polyhydramnios is 0.72% of the total antenatal cases, multiparous ie, 52% more than primiparous cases. Majority were unbooked (77.3% 63% were from rural set up. 76% belonged to low socio economic status. Majority 66% of the cases had their 1 st antenatal visit at term. Increased in cidence of operative delivery was seen in the study. Associated maternal factors found with polyhydramnios were gestation hypertension (8.4%, preeclampsia (2.9%, eclampsia (2.9%, anaemia (11%, twins (8.4%, malpresentation (5%, RH negative factor (3.7 %, and diabetes (1.9%. Fetal complication include prematurity 21.6%, IUFT 20.7%, congenital malformation 21.6%, cord prolapse 3.7%, birth asphyxia 1.9%. Most common congenital anomaly was anencephaly i.e., 11%. CONCLUSION : The study gives us the underst anding of the impact of polyhydramnios on the maternal and fetal outcome. Our study demonstrate s

  8. El aborto terapéutico en adolescentes. Comentarios al Dictamen emitido por el Comité de Derechos Humanos de la ONU en la Comunicación N° 1153/2003. El aborto terapéutico en adolescentes. Comentarios al Dictamen emitido por el Comité de Derechos Humanos de la ONU en la Comunicación N° 1153/2003.

    Directory of Open Access Journals (Sweden)

    Francisco Gómez-Sánchez Torrealva

    2012-04-01

    Full Text Available A través del presente artículo, el autor expone el caso de una adolescente peruana, quien gestaba a un feto anencefálico. De acuerdo a los reportes médicos, el feto no sólo carecía de posibilidades de sobrevivir después del nacimiento, sino que la continuación del embarazo generaba riesgos sobre la salud de la madre. Por estas razones, la gestante solicitó la aplicación del aborto terapéutico, permitido por la legislación peruana. Sin embargo, los médicos se rehusaron a aplicarlo debido a que consideraban que la gestante requería de una autorización judicial para hacerlo. Por este motivo, la adolescente, apoyada por una ONG, presentó el caso a las Naciones Unidas, la cual recomendó al Estado peruano la aplicación del aborto terapéutico para proteger la salud de las mujeres cuyos embarazos pudieran afectar su integridad y también su vida.Through this article, the author exposes the case of a Peruvian pregnant teenager, whose fetus suffered a congenital disease called anencephaly. According to medical reports, the fetus didn’t have any choice to survive after the birth and, also, the continuance of the pregnancy could case a several damage to the mother’s health. Because of these reasons, the pregnant teenager requested the application of the therapeutic abortion, allowed by the Peruvian Law. But, in spite of that, the medics refused to apply it because they considered the girl must need a judicial order to make it. That’s why the girl, supported by an NGO, presented the case to the United Nations, who recommended the Peruvian State to apply the therapeutic abortion in order to protect the health of women whose pregnancy could affect their integrity and also her lives.

  9. Study of the ureter structure in anencephalic fetuses

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    Suelen Costa

    2013-12-01

    Full Text Available Purpose The objective of this paper is to analyze the structure of the ureter in normal and anencephalic human fetuses. Materials and Methods We studied 16 ureters from 8 human fetuses without congenital anomalies aged 16 to 27 weeks post-conception (WPC and 14 ureters from 7 anencephalic fetuses aged 19 to 33 WPC. The ureters were dissected and embedded in paraffin, from which 5 µm thick sections were obtained and stained with Masson trichrome, to quantify smooth muscle cells (SMC and to determine the ureteral lumen area, thickness and ureteral diameter. The samples were also stained with Weigert Resorcin Fucsin (to study elastic fibers and Picro-Sirius Red with polarization and immunohistochemistry analysis of the collagen type III fibers to study collagen. Stereological analysis of collagen, elastic system fibers and SMC were performed on the sections. Data were expressed as volumetric density (Vv-%. The images were captured with an Olympus BX51 microscope and Olympus DP70 camera. The stereological analysis was done using the Image Pro and Image J programs. For biochemical analysis, samples were fixed in acetone, and collagen concentrations were expressed as micrograms of hydroxyproline per mg of dry tissue. Means were statistically compared using the unpaired t-test (p < 0.05. Results The ureteral epithelium was well preserved in the anencephalic and control groups. We did not observe differences in the transitional epithelium in the anencephalic and control groups. There was no difference in elastic fibers and total collagen distribution in normal and anencephalic fetuses. SMC concentration did not differ significantly (p = 0.1215 in the anencephalic and control group. The ureteral lumen area (p = 0.0047, diameter (p = 0.0024 and thickness (p = 0.0144 were significantly smaller in anencephalic fetuses. Conclusions Fetuses with anencephaly showed smaller diameter, area and thickness. These differences could indicate that anencephalic fetal

  10. 彩超筛查妊娠中期胎儿畸形的临床价值%Clinical Value of Color Doppler Ultrasound in the Screening of Fetal Malfor-mation in the Second Trimester of Pregnancy

    Institute of Scientific and Technical Information of China (English)

    李冉

    2015-01-01

    trimester of pregnancy showed that there were 2 cases of anencephaly, 3 cases of hydrocephalus, 3 cases of spina bifida, none case of cardiovas-cular malformation, 2 cases of cleft lip and palate, a case of digestive tract malformation, a case of pleuroperitoneal cavity tumor and 2 cases of urinary system malformation. The postpartum diagnosis showed that there were 2 cases of anencephaly, 4 cases of hydrocephalus, 3 cases of spina bifida, a case of cardiovascular malformation, 2 cases of cleft lip and palate, a case of digestive tract malformation, 2 cases of pleuroperitoneal cavity tumor and 2 cases of urinary system malformation. There were 14 cases of fetal malformations detected by color Doppler ultrasound and the rate of malformation was 2.8%. Compared with 17 cases and 3.4%of the results of postpartum diagnosis, there was no significant difference (P>0.05). The number of cases of fetal malformation detected by color Doppler ultrasound basically coincided with that of the distribution of postpartum diagnosis. Conclusion The accuracy of color Doppler ultrasound in the screening of fetal malformations in the second trimester of pregnancy is high, which can effectively detect fetal malformations, with great clinical promotion value.

  11. Clinical Value of Color Doppler Ultrasound in the Screening of Fetal Malfor-mation in the Second Trimester of Pregnancy%彩超筛查妊娠中期胎儿畸形的临床价值

    Institute of Scientific and Technical Information of China (English)

    李冉

    2015-01-01

    Objective To study the clinical value of color Doppler ultrasound in the screening of fetal malformation in the second trimester of pregnancy. Methods 500 cases of pregnant women in the second trimester of pregnancy and admitted into the hospital during March 2012 and September 2013 were selected as the research objects, and the gestational age of the pregnant women was in 13 to 25-week second trimester of pregnancy. The fetuses were screened by color Doppler ul-trasound. The face and brain, pleural cavity and heart, limbs and spine of the fetuses and fetal appendages, amniotic fluid, placenta, etc. were observed. With reference to the results of the diagnosis, the screening results were retrospectively ana-lyzed. Results The color Doppler ultrasound in the detection of fetal malformation in the second trimester of pregnancy showed that there were 2 cases of anencephaly, 3 cases of hydrocephalus, 3 cases of spina bifida, none case of cardiovas-cular malformation, 2 cases of cleft lip and palate, a case of digestive tract malformation, a case of pleuroperitoneal cavity tumor and 2 cases of urinary system malformation. The postpartum diagnosis showed that there were 2 cases of anencephaly, 4 cases of hydrocephalus, 3 cases of spina bifida, a case of cardiovascular malformation, 2 cases of cleft lip and palate, a case of digestive tract malformation, 2 cases of pleuroperitoneal cavity tumor and 2 cases of urinary system malformation. There were 14 cases of fetal malformations detected by color Doppler ultrasound and the rate of malformation was 2.8%. Compared with 17 cases and 3.4%of the results of postpartum diagnosis, there was no significant difference (P>0.05). The number of cases of fetal malformation detected by color Doppler ultrasound basically coincided with that of the distribution of postpartum diagnosis. Conclusion The accuracy of color Doppler ultrasound in the screening of fetal malformations in the second trimester of pregnancy is high, which can

  12. An analysis of 1018 cases of ultrasonography

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    Kim, Chu Wan; Suh, Jeong Soo; Lee, Kwan Seh; Kim, Ki Hwan; Im, Chung Gie; Chang, Kee Hyun; Yeon, Kyung Mo; Han, Man Chung; Choo, Dong Woon [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1985-12-15

    1, transplanted kidney 1. 9. In 8 cases of polycystic disease of kidney, 1 case combined with liver involvement, other 1 case with liver, pancreas, splenic involvement. 10. Ob. and Gyn. fields 122; 1) 57 in Gyn. field -- normal 4, massive ascites 4, overian cyst 21, overian teratodermoid 7, uterine myoma 7, H-mole 6, cervix and rectal cancer follow-up 6, PID with abscess 2. 2) 65 in Ob. field -- normal scan 3, detection of early pregnancy 27, fetal cephalometry and presentation 16, placental localization 11, with normal 6, placenta previa 5, fetal death 5, multiple pregnancy 2. fetal anomaly (anencephaly) 1. 11. Eyeballs and orbit; of 14 cases, 7 cases of retinal detachment, vitreous opacity due to hemorrhage or exudation with clinical contribution in all cases. Exact localization and extent of disease could be done in 2 cases of choroidal melanoma. 12. We could have great diagnostic advantage in various aspects by ultrasonography, and if we use it as a complementary study with other diagnostic methods, we could expect better results under the previous experiences.

  13. Prevalência de defeitos de fechamento de tubo neural no Vale do Paraíba, São Paulo Prevalence of neural tube defects in Vale do Paraíba, São Paulo, Brazil

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    Luiz Fernando C. Nascimento

    2008-12-01

    Full Text Available OBJETIVO: Estimar a prevalência de defeitos de fechamento do tubo neural no Vale do Paraíba paulista e identificar possíveis fatores maternos e neonatais associados a tais defeitos. MÉTODOS: Realizou-se um estudo transversal com dados secundários obtidos na Secretaria Estadual da Saúde referentes aos nascimentos ocorridos em 2004 no Vale do Paraíba paulista, que compreende 35 municípios e conta com população de 2 milhões de habitantes. Anencefalia, encefalocele e espina bífida (mielocele e mielomeningocele foram considerados defeitos de fechamento do tubo neural. As variáveis maternas foram: idade, escolaridade, cor da pele, número de consultas no pré-natal, número de filhos vivos e relato de óbito fetal prévio. As variáveis relativas ao recém-nascido foram: peso, idade gestacional e escore de Apgar. Realizou-se comparação das médias por meio do teste t de Student e obtiveram-se os valores das razões de chance com intervalos de confiança de 95%. RESULTADOS: Foram analisados 33.653 nascidos vivos. Trinta e oito recém-nascidos com o defeito foram encontrados (1,13/1.000 nascidos vivos, sendo 23 casos de espina bífida. Houve associação com baixo peso ao nascimento, prematuridade e menores escores de Apgar de cinco minutos. CONCLUSÕES: A prevalência desta anomalia foi inferior à de outros estudos nacionais e sua presença esteve associada ao baixo peso, à prematuridade e à baixa vitalidade ao nascer.OBJECTIVE: To estimate the prevalence of neural tube defects in Vale do Paraíba, São Paulo, Brazil, and to identify possible maternal and neonatal variables associated with these defects. METHODS: This cross-sectional study used secondary records of the Health Department of São Paulo State related live births during 2004 in Vale do Paraíba, São Paulo, Brazil. This region has 35 cities and 2 million inhabitants. Anencephaly, encephalocele and spina bifida (myelocele and myelomeningocele were considered as neural tube

  14. Dificultades en los métodos de estudio de exposiciones ambientales y defectos del tubo neural Methodological challenges to assess environmental exposures related to neural tube defects

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    Víctor Hugo Borja-Aburto

    1999-11-01

    susceptibilidad genética.Objective. To discuss the attitudes in the assessment of environmental exposures as risk factors associated with neural tube defects, and to present the main risk factors studied to date. Results. Environmental exposures have been suggested to have a roll in the genesis of birth defects. However, studies conducted in human populations have found difficulties in the design and conduction to show such an association for neural tube defects (anencephaly, espina bifida and encefalocele because of problems raised from: a the frequency measures used to compare time trends and communities, b the classification of heterogeneous malformations, c the inclusion of maternal, paternal and fetal factors as an integrated process and, d the assessment of environmental exposures. Conclusions. Hypothetically both maternal and paternal environmental exposures can produce damage before and after conception by direct action on the embryo and the fetus-placenta complex. Therefore, in the assessment of environmental exposures we need to take into account: a both paternal and maternal exposures; b the critical exposure period, three months before conception for paternal exposures and one month around the conceptional period for maternal exposures; c quantitatively evaluate environmental exposures when possible, avoiding a dichotomous classification; d the use of biological markers of exposure is highly recommended as well as markers of genetic susceptibility.

  15. Investigation on prenatal ultrasound diagnosis of fetal agenesis of septum pellucidum cavity%胎儿透明隔腔缺如的产前超声诊断

    Institute of Scientific and Technical Information of China (English)

    符燕鸣

    2015-01-01

    Objective To study the prenatal ultrasound diagnosis of fetus isolation chamber is absent . Methods Our hospital from October 2012 to October 2014 pregnant women for prenatal ultrasonic examination system between 8650 cases, including 8 cases of symptoms, the isolation chamber was absent for key observe cerebral ultrasound , ultrasonic characteristics and analyze its related abnormalities .Results All the 8 cases of fetal prenatal brain two-dimensional ultrasonic are transparent insulation cavity , its deficiency such as fetal related deformities has the following kinds: 1 ) the subcallosal sacral defect in 1 case, for lack of completeness; 2 ) holoprosencephaly in 2 cases, including leaves in 1 case, half leaf type 1 case;3) split brain malformation in 1 case;4) hole brain in 1 case; 5) type water anencephaly in 1 case; 6) severe hydrocephalus in 2 cases, including 1 case caused by midbrain aqueduct stenosis , 1 case caused by open spina bifida .Conclusions Cavity of septum pellucidum can be used as a middle and late ultrasonic observation important index of the fetal central nervous system development , if the isolation chamber is absent tend to cause various brain malformation fetus , such as frontal lesions and midline structure dysplasia .In double top diameter plane make prenatal ultrasound can observe transparent insulation cavity , it can be as an important observation methods have transparent insulation cavity.%目的:研究胎儿透明隔腔缺如的产前超声诊断。方法选取我院自2012年10月至2014年10月间进行产前系统超声检查的孕妇8650例,其中有8例透明隔腔缺如症状,对其进行颅脑超声重点观察,并且分析其相关畸形超声特征。结果所有8例胎儿的产前颅脑二维超声均未显示透明隔腔,其缺如胎儿的相关畸形有以下几种:(1)胼骶体缺失1例,为完全性缺失;(2)前脑无裂畸形2例,其中包括无叶型1例,半叶型1例;(3)脑裂畸形1

  16. 妇女怀孕前后被动吸烟与神经管畸形关系的病例对照研究%Maternal passive smoking and the risk of neural tube defects: a case-control study in Shanxi province,China

    Institute of Scientific and Technical Information of China (English)

    李智文; 刘建蒙; 任爱国; 张乐; 郭湛英; 李竹

    2008-01-01

    目的 探讨母亲怀孕前后被动吸烟与子代发生神经管畸形(NTD)危险性的关系.方法 资料来源于北京大学生育健康研究所在山西省平定、昔阳、太谷和泽州4个县开展的以人群为基础的出生缺陷病例对照研究.病例为2003年1月到2007年6月监测到的515例NTD病例(其中无脑儿236例,脊柱裂237例,脑膨出42例),对照组为同期在同地区调查的682例无体表出生缺陷的婴儿.研究人员在妇女分娩一周内问卷调查妇女怀孕前后的被动吸烟及其他信息.用非条件logistic回归模型调整混杂因素.结果 与无被动吸烟的妇女相比,怀孕前后有被动吸烟的妇女生育NTD的危险性(OR值)为1.84(95%CI:1.39~2.44).妇女被动吸烟频度与子代发生NTD危险性之间存在显著的剂量反应关系.与无被动吸烟的妇女相比,偶尔有被动吸烟的妇女和每天有被动吸烟的妇女生育NTD的OR值分别为1.51和2.44(趋势x2=24.9,P<0.001).结论 妇女怀孕前后被动吸烟增加生育NTD患儿的危险性.%Objective To explore the relationship between maternal passive smoking during early pregnancy and the risk of neural tube defects (NTDs). Methods Data was derived from a populationbased case-control study on birth defects in Shanxi province. The study subjects included 515 NTDs defects cases (236 cases of anencephaly, 237 spina bifida and 42 encephalocele) ascertained during January 2003 and June 2007 in the study areas and 682 normal controls randomly selected in the same residence during the same period as cases. Results The risk of NTDs in their offspring was 1.84 (95 % CI : 1.39-2.44) for mothers with passive smoking history during peri-conceptional period. There was a marked dose-response relation between maternal passive smoking and the risk of NTDs in offspring. Compared to the women without passive smoking, the NTDs risk in offspring was 1.51 for women with occasional passive smoking and 2.44 for women with passive

  17. 北京平谷区三年出生缺陷产前超声筛查分析%Prenatal Ultrasound Screening Analysis for the Birth Defects within 3 Years in Pinggu District in Beijing

    Institute of Scientific and Technical Information of China (English)

    刘大平

    2013-01-01

    Objective Ultrasonography in prenatal screening for birth defects diagnosis,understanding of the region the incidence of birth defects,in order to reduce the occurrence of congenital malformation.Methods In 2007,2008,my area,2009 (statistical time for every year from October 1st to next September 30th) delivery within seven days after the diagnosis of birth defects and ultrasound examination results were analyzed.Results In three years the region a total of 162 infants with birth defects,a total of 60 cases of prenatal ultrasound screening detected fetal malformation,and confirmed after birth ultrasound diagnosis correctly,ultrasound screening for the detection rate for 37 %.Missed diagnosis of malformations mainly for cardiac malformation in 45 cases,means (toe) abnormalities in 26 cases,lip,palate 8 cases.Conclusions Ultrasound examination can be detected in the vast majority of congenital fetal malformations,at present this area for gastroschisis,anencephaly and other obvious fetal malformation high detection rate,on minor malformations such as finger (toe) abnormalities in three years has never been detected,on fetal cardiac abnormalities by ultrasonography technology needs to be further improved.%目的 探讨超声产前筛查对出生缺陷的诊断价值,了解本地区出生缺陷的发生动态,为减少先天畸形的发生提供依据.方法 将平谷区2007-2009年(统计时间为每年10月1日至次年9月30日)分娩后7d内诊断的出生缺陷儿与超声检查结果,进行对比分析.结果 3年全区共分娩畸形儿162例,产前超声共筛查出60例畸形胎儿,且出生后证实超声诊断正确,超声筛查的检出率为37%.漏诊心脏畸形45例,指(趾)异常26例,唇、腭裂8例等.结论 超声检查可以检出绝大多数的胎儿先天畸形,目前平谷区对腹裂、无脑儿等明显的胎儿畸形检出率高,对微小畸形如指(趾)异常3年从未检出过,对胎儿心脏异常的超声检查技术有待进一步提高.

  18. ANALYSIS OF PRENATAL DIAGNOSIS DATA OF FIRST AND SECOND TRIMESTER DOWN'S SYNDROME IN 720 CASES%孕早中期唐氏综合症720例产前诊断数据分析

    Institute of Scientific and Technical Information of China (English)

    施学琴

    2012-01-01

    [Objective | To discuss the prenatal methods and clinical applications about screening Down's syndrome and other severe congenital defects during first and second trimester. [Methods] Applied the automatic time resoLved fluorescence assay in combined screening serum markers (PAPP-A/free beta - HCG or AFP/free beta - HCG/E3) of 720 pregnant women during first and second trimester, used the Mullical software screening in high risk of pregnant women, through aroniotic fluid or umbilical cord blood cells cultured to get chromosome karyotyp** for definite diagnosis. [Results] In the 396 cases of pregnant women, high risk of Down syndrome and triaomy 18 in 2 cases, high risk of NTD in 1 case, single index abnormality in 5 cases, the definitive diagnosis of Down's syndrome in 1 case, trisomy 18 in 1 case, a pericentric inversion in 1 case, missing in 1 case, severe Mediterranean anemia in 1 case and anencephaly in 1 case. [Conclusion] Combined screening for serum bioraarkers has higher efficiency than single screening. Positive single index of serum m&rkes suggests for prenatal diagnosis. Dowti syndrome screening ia an effective index as predictor of adverse pregnancy outcome, which combines with prenatal diagnosis have important clinical significance to prevent congenital defects in infants.%[目的]探讨孕早中期孕妇产前筛查唐氏综合征和其他严重先天缺陷的方法及临床应用.[方法]应用全自动时间分辨荧光分析法对720例孕早中期孕妇进行血清标志物(PAPP-A/freeβ-HCG或者AFP/free β-HCG/μE3)联合筛查,使用Multical软件筛查高风险孕妇,通过羊水或脐带血细胞培养获得染色体核型以明确诊断.[结果]筛查随访的396例孕妇中,筛查出唐氏综合征及18-三体高风险者2例,NTD高风险者1例,单项指标异常者5例,明确诊断唐氏综合征1例、18-三体1例、臂间倒位1例、缺失1例、重型地中海贫血1例,无脑畸形1例.[结论]联合筛查血清标志物的效率

  19. Diagnostic value of systemic fetus screening on the fetal external ear deformity%系统性胎儿筛查对胎儿外耳畸形的诊断价值

    Institute of Scientific and Technical Information of China (English)

    惠华伟

    2015-01-01

    Objective:To explore the ultrasonic characteristics and clinical application value of systemic screening on the fetal external ear deformity.Methods:The pregnant woman with systemic fetus screening in our hospital were followed up,including 16 cases were fetal external ear deformity.The ultrasonographic data were retrospectively analyzed,and the misdiagnosis and misdiagnosis reasons were analyzed.Results:11 cases were fetal external ear deformity by the systemic fetus screening,and 5 cases were misdiagnosis.Among 7 cases were single ear microtia, 2 cases were ear low,1 case was double side anotia,1 case was double ears microtia,including 5 cases with polyhydramnios,combined with anencephaly,omphalocele,common atrioventricular canal malformation,limb deformity in 1 case.9 cases were given karyotype analysis;4 cases were diagnosed as 21-3 body;3 cases were 18-3 body.Conclusion:Fetal external ear deformity has its special ultrasonographic manifestations,systemic screening for fetal external ear can provide abundant diagnostic information for prenatal diagnosis of fetal malformation.It is worth noting in which there are 3 patients without obvious other small ear deformity,2 cases are 21-3 body,1 case is 18-3 body,among 1 case of ear low is 18-3 body.%目的:探讨系统性筛查胎儿外耳畸形的声像图特征及临床应用价值。方法:随访本院进行系统性胎儿筛查检查的孕妇,其中胎儿外耳畸形16例,对其声像图资料进行回顾性分析,分析其漏诊误诊原因。结果:系统性胎儿筛查出11例胎儿外耳畸形,漏诊5例。其中单耳小耳7例,耳低位2例,双侧无耳畸形、双耳小耳各1例,其中5例伴羊水过多,合并无脑儿、脐膨出、房室共道畸形、肢体畸形各1例。9例行染色体核型分析,诊断为唐氏综合征4例,18-3体3例。结论:胎儿外耳畸形有其特殊的声像图表现,系统性筛查胎儿外耳可为产前诊断胎儿畸形提供丰富的诊

  20. Efeito da fortificação alimentar com ácido fólico na prevalência de defeitos do tubo neural Efecto de la fortificación alimentaria con ácido fólico en la prevalencia de defectos del tubo neural Effects of folic acid fortification on the prevalence of neural tube defects

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    Sâmya Silva Pacheco

    2009-08-01

    defectos del cierre del tubo neural fueron definidos de acuerdo con el Códigos Internacional de Enfermedades- 10ª Revisión: anencefalia, encefalocele y espina bífida. Se compararon las prevalencias en los períodos anterior (2000 - 2004 y posterior (2005-2006 al período obligatorio de fortificación. Se analizó la tendencia temporal de las prevalencias trimestrales de defectos del cierre del tubo neural por las pruebas de Mann-Kendall y Sen's Slope. RESULTADOS: No se identificó tendencia de reducción en la ocurrencia del hecho (Teste de Mann-Kendall; p= 0,270; Sen's Slope = - 0,008 en el período estudiado. No hubo diferencia estadísticamente significativa entre las prevalencias de defectos de cierre del tubo neural en los períodos anterior y posterior a la fortificación de los alimentos con ácido fólico de acuerdo con las características maternas. CONCLUSIONES: A pesar de que no haya sido observada reducción de los defectos de cierre del tubo neural posterior al período obligatorio de fortificación de alimentos con ácido fólico, los resultados encontrados no permiten descartar el beneficio del mismo en la prevención de esta malformación. Son necesarios estudios evaluando mayor período y considerando el nivel de consumo de los productos fortificados por las mujeres en edad fértil.OBJECTIVE:To analyze the effect of folic acid-fortified foods on the prevalence of neural tube defects in live newborns. METHODS: Longitudinal study with newborns from the city of Recife, Northeastern Brazil, between 2000 and 2006. Data analyzed were obtained from the Sistema Nacional de Informações de Nascidos Vivos (National Information System on Live Births. Neural tube defects were defined in accordance with the International Classification of Diseases, 10th revision (ICD-10: anencephaly, encephalocele, and spina bifida. Prevalences from the periods before (2000-2004 and after (2005-2006 the mandatory fortification period were compared. Time trend of three

  1. Diagnosis of fetal neural tube defects by MRI%胎儿神经管缺陷畸形的MRI诊断

    Institute of Scientific and Technical Information of China (English)

    董素贞; 朱铭; 钟玉敏; 张弘; 潘慧红

    2010-01-01

    Objective To explore the diagnostic value of MRI on fetal neural tube defects.Methods Ten pregnant women,aged from 25 to 35 years(average 28 years)and with gestation from 20-39 weeks(average 33 weeks)were studied with a 1.5 T superconductive MR unit within 24 to 48 hours after ultrasound(US)studies.The imaging protocol included fast-imaging employing steady-state acquisition,single-shot FSE and T_1-weighted fast inversion recovery motion insensitive sequences in the axial,frontal,and sagittal planes relative to the fetal brain,thorax,abdomen,and spines.Prenatal US and MRI findings were compared with postnatal MRI diagnoses(3 fetuses)or autopsy(7 fetuses).Results Ten pregnant women(9 with a single fetus and 1 with twin fetuses)were examined.For all cases,the diagnoses established by MRI were correct when compared with postnatal diagnosis or autopsy.In 7 cases,US and MRI findings were in complete agreement with postnatal diagnoses.US missed the diagnosis in 1 case and misdiagnosed in 2 cases.Ten neural tube defects in this study included anencephaly(1 case),exencephaly (1 case),meningoencephalocele associated with amniotic band sequence(1 case),meningocele(1 case),thoracic myelomeningocele(1 case),lumbar spinal bifida(1 case),sacroiliac myelomeningocele(2 cases),sacroiliac large cystic spinal meningocele(1 case),sacroiliac spinal bifida(1 case).Conclusions Prenatal MRI is effective in the assessment of fetal neural tube defects.It can exactly discriminate herniated contents and locate the spinal lesion level.%目的 探讨MRI在胎儿神经管缺陷畸形诊断中的应用价值.方法 回顾性分析行MR检查的629例异常胎儿中10例神经管缺陷畸形胎儿的MRI资料.10例孕妇产前超声检查后24~48 h内行MR检查,采用2D快速平衡稳态采集序列、单次激发FSE序列以及快速反转恢复运动抑制序列,行胎儿颅脑、胸、腹部常规及颅脑、脊柱重点冠状面、矢状面及横断面扫描,将

  2. 孕妇血清叶酸和维生素B12水平与子代神经管畸形发生的关系%Maternal serum level of vitamin B12 and folate and the risk of fetal neural nube defects

    Institute of Scientific and Technical Information of China (English)

    谢华; 任玉秀; 梁晋魁; 赵莉

    2010-01-01

    vitamin B12 and folate levels were detected compared with the control group. While, in those complicated with anencephaly, only lower levels of maternal folate were shown. There was no statistical significance in maternal serum concentrations of vitamin B12 and folate between those cases with encephalocele and controls. Higher risk of NTDs were found in pregnant women with lower level of vitamin B12 and folate (AOR = 2. 58, 95% CI: 1. 20-5. 51; AOR= 2. 76, 95%CI: 1. 30-5. 87). Conclusions Deficiency or insufficiency of folate or vitamin B12 is associated with the increased risk of NTD, especially in high risk population.

  3. Interrupção da gestação após o diagnóstico de malformação fetal letal: aspectos emocionais Termination of pregnancy after the diagnosis of lethal fetal malformation: emotional aspects

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    Gláucia Rosana Guerra Benute

    2006-01-01

    experienced with termination of pregnancy after the diagnosis of lethal fetal malformation. METHODS: thirty-five pregnant women who underwent termination of pregnancy for lethal fetal anomaly after judicial permission were interviewed. The most frequent fetal malformation was anencephaly (71.5%. The patients were submitted to an open interview as soon as the diagnosis of fetal malformation was confirmed, allowing them to express their feelings and stimulating them to think about asking for termination of pregnancy. The mean time spent until the judicial agreement was 16.6 days. The women who requested and were submitted to the procedure of abortion were invited to return for psychological evaluation after 30-60 days. At this moment, a semi-structured interview was performed to find the emotional aspects and feelings that existed. RESULTS: thirty-five patients were interviewed. The decision-making feelings about termination of pregnancy were negative for 60%, 51.4% declared that they had no doubts about the assumed decision and 65.7% declared that their own opinion was more important for decision than anyone else's. Most of the women (89% affirmed to remember the facts about the procedure that they experienced, 91% affirmed that they would have the same attitude in the case of another similar situation in the future and 60% declared that they would advise someone to opt for termination of pregnancy if asked about the same situation. CONCLUSIONS: the anguish experienced showed that the process of thinking is very important for the decision-making process and posterior satisfaction with the assumed posture. The psychological follow-up allows to review the moral and cultural values in order to help the decision-making process with the aim of minimizing the suffering.

  4. 青龙满族自治县围产儿出生缺陷情况分析及对策研究

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    王民; 肖斌; 孟晓丽; 刘凤楼; 李淑民

    2016-01-01

    Objective Understand the present situation of perinatal birth defects qinglong manchu autonomous county, tofind the cause of perinatal birth defects, explore study of the various measures to prevent birth defects, which will provide a scientific basis for regional service decision of eugenic and superior nurture.Methods Relying on national free pregnancy eugenics health check project, from January 2013 to September 2015, collecting reproductive health care to qinglong manchu autonomous county hospital to participate in national free pregnant eugenics health check after the project plan of 20271 pregnant women of childbearing age, around the pregnancy pregnancy follow-up found abnormal termination of the fetus, and data on the retrospective statistical analysis.Results Found a total of 156 cases of perinatal birth defects of perinatal birth defects 7.69‰, and a downward trend in 3 years. Perinatal birth defects in the main line, spina bifida, anencephaly encephalocele, congenital hydrocephalus, etc.; Lead to the main factors of perinatal birth defects of the economy, the living environment, living habits, access to health services, for the master degree of knowledge of eugenic and superior nurture, taking of nutrients during pregnancy, etc.Conclusion In order to reduce the perinatal birth defects, we must strengthen eugenics health knowledge propaganda, improve women of childbearing age consciousness of eugenic and superior nurture, through the national free eugenics health examination before childbirth programs at the same time, actively promote prenatal screening technology,strengthen the efforts in prenatal screening and prenatal diagnosis, actively carry out women take folic acid, pregnancy and the early stages of pregnancy to prevent birth defects "tertiary prevention measures”, can effectively prevent the occurrence of perinatal birth defects, reduce the incidence of birth defects.%目的:了解青龙满族自治县围产儿出生缺陷现状,寻找

  5. Aborto e legislação: opinião de magistrados e promotores de justiça brasileiros Aborto y legislación: opinión de magistrados y promotores de justicia brasileros Brazilian abortion law: the opinion of judges and prosecutors

    Directory of Open Access Journals (Sweden)

    Graciana Alves Duarte

    2010-06-01

    el aborto deberían ser ampliadas, o más aún que el aborto no debería ser considerado crimen. Las mayores proporciones de opiniones favorables para que el aborto sea permitido se refirieron a riesgo para la vida de la gestante (84%, anencefalia (83%, malformación congénita grave (82% y gravidez resultante de violación (82%. Las variables relativas a la religión fueron las más frecuentemente asociadas a tales opiniones. CONCLUSIONES: Se observó una tendencia a considerar la necesidad de cambios en la actual legislación brasilera en el sentido de ampliar las circunstancias en las cuales no se castiga el aborto y hasta dejar de considerarlo un crimen, independientemente de la circunstancia en que es practicado.OBJECTIVE: To analyze the opinion of judges and prosecutors concerning Brazilian abortion law and situations in which the abortion should be allowed. METHODS: A cross-sectional study was performed with 1,493 judges and 2,614 prosecutors in Brazil between 2005 and 2006. Participants completed a structured questionnaire approaching sociodemographic characteristics, opinions about abortion law, and circumstances in which abortion is considered lawful. Bivariate and multivariate analyses of data were carried out through Poisson regression. RESULTS: The majority of participants (78% found that the circumstances in which abortion is considered lawful should be broadened, or even that abortion should not be criminalized. The highest rates of pro-abortion opinions resulted from: risk to the life of the mother (84%, anencephaly (83%, severe congenital malformation of fetus (82%, and pregnancy resulting from rape (82%. Variables related to religion were strongly associated to the opinion of participants. CONCLUSIONS: There is a trend in considering the need of changing the current abortion law, in the sense of widening the circumstances in which abortion is considered lawful, or even toward decriminalizing abortion, regardless of the circumstances in which it

  6. 超声诊断胎儿半椎体的临床价值%Ultrasonic diagnosis of fetus half the clinical value of the vertebral bodies

    Institute of Scientific and Technical Information of China (English)

    吴明烨; 张燕

    2015-01-01

    Objective To explore the half vertebral malformation fetus of application of the value of the standardization of prenatal ultra-sound monitoring and inspection. Methods 20 patients suspected with vertebral fetal pregnant women from January 2012 to January 2014 were in-cluded into this study. All the research objects performed standardized ultrasound antenatal examination,further fetal vertebral bodies MRI in pre-natal suspected abnormal,MR full-term fetus after childbirth newborns and induced labor,computed tomography( CT)or x-rays. Comparison of prenatal MRI and ultrasound,postpartum imaging examination were performed. Results 20 cases are half vertebral malformation fetus. 7 cases of single,which affected thoracic 3 cases. 1 case of cervical vertebra,sacral vertebra in 1 case,lumbar 2 cases. Merger of cleft lip on the left side of the ectopic kidney,hydrocephalus were found in 1 case. The rest 4 cases did not have other system combined deformity. Multiple deformities were found in 13 cases,involvement of cervical vertebra in 3 cases,4 cases were sacral vertebra,lumbar in 1 case,thoracic vertebra in 5 cases. 10 cases combined with merger nervous system abnormalities,including 3 cases of anencephaly,spina bifida bulging in 3,hydrocephalus in 1 case,3 cases of spina bifida. Merger urinary tract malformation were found in 7 cases,including repeat renal in 1 case,renal dysplasia(3 ca-ses),kidney deficiency,such as ectopic kidney in 2 cases,1 case. Merging other system malformation were found in 3 cases including part of the fetus. There are two or more than two system malformation,no other system malformation in 2 cases. Prenatal ultrasound diagnostic accuracy rate was 90. 0%,the prenatal MRI diagnostic accuracy was 95. 0%. The difference was no statistically significant( P ﹥0. 05). And 20 cases of fetal ultrasound imaging features of spine showed strong echo. The vertebral body slightly smaller than normal triangular or elliptic osseous strong echo embedded normal

  7. Fatores de risco para mortalidade neonatal em crianças com baixo peso ao nascer Factores de riesgo para mortalidad neonatal en niños con bajo peso al nacer Risk factors for neonatal mortality among children with low birth weight

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    Adolfo Monteiro Ribeiro

    2009-04-01

    Informaciones sobre Mortalidad, fueron integrados por la técnica de linkage. En modelo jerarquizado, las variables de los niveles distal (factores socioeconómicos, intermedio (factores de atención a la salud y proximal (factores biológicos fueron sometidas al análisis univariado y regresión logística multivariada. RESULTADOS: Con el ajuste de las variables en la regresión logística multivariada, las variables del nivel distal que permanecieron significativamente asociadas con el óbito neonatal fueron: la cohabitación de los padres, número de hijos vivos y tipo de hospital de nacimiento; en el nivel intermedio: número de consultas en el pre-natal, complejidad del hospital de nacimiento y tipo de parto; y en el nivel proximal: sexo, edad gestacional, peso al nacer, índice de Apgar y presencia de malformación congénita. CONCLUSIONES: Los principales factores asociados a la mortalidad neonatal en los nacidos vivos con bajo peso están relacionados con la atención a la gestante y al recién nacido, reductibles por la actuación del sector salud.OBJECTIVE: To analyze the risk factors associated with neonatal deaths among children with low birth weight. METHODS: A cohort study was carried out on live births weighing between 500 g and 2,499 g from single pregnancies without anencephaly in Recife (Northeastern Brazil between 2001 and 2003. Data on 5,687 live births and 499 neonatal deaths obtained from the Live Birth Information System and the Mortality Information System were integrated through the linkage technique. Using a hierarchical model, variables from the distal level (socioeconomic factors, intermediate level (healthcare factors and proximal level (biological factors were subjected to univariate analysis and multivariate logistic regression. RESULTS: After adjusting the variables through multivariate logistic regression, the factors from the distal level that remained significantly associated with neonatal death were: cohabitation by the parents, number of

  8. Opinião de estudantes dos cursos de Direito e Medicina da Universidade Federal do Rio Grande do Norte sobre o aborto no Brasil Opinion of Medical and Law students of Federal University of Rio Grande do Norte about abortion in Brazil

    Directory of Open Access Journals (Sweden)

    Robinson Dias de Medeiros

    2012-01-01

    legalidade do aborto no Brasil, aliado a uma tendência favorável à ampliação do permissivo legal para outras situações não previstas em lei. Ressalta-se a importância da inclusão dessa temática nos currículos de graduação e do desenvolvimento de estratégias de ensino interprofissional.PURPOSE: To analyze and compare the knowledge and opinions of Law and Medical students regarding the issue of abortion in Brazil. METHODS: This was a cross-sectional study involving 125 graduate students from the class of 2010. Of these, 52 were medical students (MED group and 73 law students (LAW group. A questionnaire was applied based on published research about the topic. Dependent variables were: monitoring the abortion debate, knowledge concerning situations where abortion is permitted under Brazilian law, opinion about situations that agree with extending legal permission to terminate pregnancy and prior knowledge of someone who has undergone induced abortion. Independent variables were: sex, age, household income and graduation course. Statistical analysis: χ² and Fisher's exact tests, with the level of significance set at 5%. RESULTS: Most interviewees reported monitoring the debate on abortion in Brazil (67.3% of the MED group and 70.2% of the LAW group, p>0.05. When assessing knowledge on the subject, medical students had a significantly higher percentage of correct answers than law students (100.0 and 87.5%, respectively; p=0.005 regarding the legality of abortion for pregnancies resulting from rape. Elevated percentages of correct responses were also recorded for both groups in relation to pregnancies that threaten the life of the mother (94.2 and 87.5% for MED and LAW groups, respectively, but without statistical significance. A significant percentage of respondents declared they were in favor of extending legal abortion to other situations, primarily in cases of anencephaly (68%, pregnancy severely harming the mother's physical health (42.1% or that of the fetus

  9. Folic acid, zinc, iodine, selenium and maternal health%叶酸、锌、碘、硒与孕妇健康

    Institute of Scientific and Technical Information of China (English)

    吐尔逊江·买买提明; 王艳萍

    2007-01-01

    加.应指导孕妇增加饮食的碘营养,同时对缺碘的孕妇须指导服用碘制剂.结论:在妊娠期间,合理调整膳食结构,适当增加食物中叶酸、锌、碘、硒等微营养的含量,可防止不良妊娠结局的发生,从而有利于优生优育.%AIM: To review the findings of animalistic experiments and clinical trials about the folic acid, zinc, iodine, selenium and pregnant health, and make clear about the important effect of folic acid, zinc, iodine and selenium on pregnant health.METHODS:Using computer following websites were searched: www.xjmu.edu.cn/lib/lib.htm springerlink.lib.tsinghua.edu.cn with the key words of"folic acid, zinc, iodine, selenium and pregnant health" published from 1996 to 2006.Simultaneously, the correlated magazines and the books were manually retrieved to collect the correlated articles about the micronutrients and health of pregnant women, including findings of animal experiments and clinical trials.RESULTS: Full-texts of the collected articles of folic acid, zinc, iodine and selenium with pregnant health were searched.On the basis of choice and analysis, the repetition or the similar researches were excluded. Finally 16 literatures were refined to carry on the classified reorganization for review. Due to the needs of the growth and development of fetus, the requirement of micronutrient of pregnant women was increasing. If nutritional supplement was inadequate this time, it would result in the deficiency of nutrients, which would increase the occurrence of harmful pregnant outcome. Folic acid belonged to Vitamin B was the termini generales of the compounds those had pterolyglutamic acid. In vivo, the activity pattern was tetrahydrofolic acid. It played an important role as one carbon unit in biosynthesis in vivo. The typical clinical manifestation of famine of folic acid was megaloblastic anaemia. For the mother lacked of folate, the abnormity rate of neural tube of their children manifestly raised up. Accordingly anencephaly, dropsy of

  10. Analysis of Prenatal diagnosis results of trisomy 18 fetus%18-三体综合征胎儿的产前诊断结果分析

    Institute of Scientific and Technical Information of China (English)

    韩瑾; 何平; 廖灿; 张蒙; 甄理; 杨昕; 潘敏; 李东至; 易翠兴; 袁思敏; 钟慧珠

    2016-01-01

    Objective To assess clinical application of prenatal diagnosis in trisomy 18 during pregnancy.Methods A total of 13 354 cases received invasive prenatal diagnosis at Prenatal Diagnosis Center,Guangzhou Woman and Children′s Medical Center between January 2010 and August 2014. Among them, 95 fetus were diagnosed as trisomy 18.Three prenatal diagnostic methods included chorionic villi biopsy (1 1-13 +6 gestational weeks),amniocentesis (1 6-24 gestational weeks)and percutaneous puncture of umbilical cord (> 24 gestational weeks).The indications of prenatal diagnosis, abnormal karyotype of chromosome of fetus, and ultrasonic abnormal manifestations of 95 cases with trisomy 18 were analyzed.The study protocol was approved by the Ethical Review Board of Investigation in Human Being of Guangzhou Woman and Children′s Medical Center.Informed consent was obtained from each participates.Results ① Indications:46 cases (48.5%)of 95 cases were high risk in the first trimester screening,47 cases (48.4%)were high risk in the second and third trimester,the remaining 2 cases of indications were high risk in non-invasive prenatal test (NIPT)and carriers ofα-thalassemia.Furthermore,among 95 cases with trisomy 18,33 pregnant women underwent chorionic villi biopsy, 46 underwent amniocentesis, and other 1 6 underwent percutaneous puncture of umbrlical cord.② Chromosome karyotypes:except of 91 cases (95.8%)simple karyotype of trisomy 18,4 cases (4.2%)were chromosome mosaic.Among them, 2 cases of mosaic ratio than 20% were found structure abnormalities in the first trimester screening. One in 1 1.0% was high risk in the second trimester screening.One in 8.0% had no findings in the first and second trimester screening,while had fetal growth restriction (FGR)in the third trimester.③ The main ultrasound findings in the first trimester of 38 cases (82.6%)were nuchal translucency (NT)thickening,nasal bone absence or hypoplasia,cystic hygroma,omphalocele and anencephaly, another 40

  11. 单绒毛膜单羊膜囊双胎妊娠17例临床分析%Monochorionic monoamniotic twin pregnancy: a review of 17 cases

    Institute of Scientific and Technical Information of China (English)

    邵长香; 孙路明; 邹刚; 孙琦; 周奋翮; 周艳

    2014-01-01

    Objective To review the diagnosis,monitoring,management and perinatal outcomes of monochorionic monoamniotic (MCMA) twin pregnancy.Methods From July 2010 to August 2013,there were 17 MCMA twin pregnancies diagnosed and delivered in Shanghai First Maternity and Infant Hospital.According to the MCMA management protocol,induced abortion,elective fetal reduction,and anticipant pregnancy were optional.For those anticipant pregnancies,fetal lung underwent maturation promotion at gestational weeks 28; hospitalization with 40 min/day continual fetal electronic monitoring and umbilical blood monitoring twice weekly at gestational weeks 28-30; 40 min continual fetal electronic monitoring twice daily and umbilical blood monitoring once every other day at gestational weeks 30-32; and 40 min continual fetal electronic monitoring three times daily and umbilical blood monitoring once daily at gestational weeks 32-34; and pregnancy ended on time.The presence of umbilical cord entanglement,congenital malformation,intrauterine fetal death,complications exclusive to monochorionic twins (e.g.selective fetal growth restriction,twin reversed arterial perfusion sequence and twin-twin transfusion syndrome) and the perinatal outcomes were retrospectively analyzed.Results Average maternal age of women with 17 MCMA twins was (29.0±2.7) years,and all were primiparas.They were diagnosed at (18.6± 5.5) weeks on average (11 +5-28+1 weeks).Umbilical cord entanglements were detected in all cases by ultrasonography and confirmed postnatally.There were three cases of complications specific to monochorionic twins,including two with selective fetal growth restriction and one with twin reversed arterial perfusion sequence.There were seven women with fetal congenital malformation; four of whom chose induced abortion; one case of anencephaly chose radiofrequency ablation fetal reduction,and the remaining two cases with congenital malformation and ten cases without chose anticipant pregnancy,and there