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Sample records for anencephaly

  1. Anencephaly

    Science.gov (United States)

    ... Awards Enhancing Diversity Find People About NINDS NINDS Anencephaly Information Page Table of Contents (click to jump ... Organizations Related NINDS Publications and Information What is Anencephaly? Anencephaly is a defect in the closure of ...

  2. Paternal occupation and anencephaly

    Energy Technology Data Exchange (ETDEWEB)

    Brender, J.D.; Suarez, L. (Texas Department of Health, Austin (USA))

    1990-03-01

    It has been suggested that paternal occupational exposures to pesticides and solvents increase the risk of neural tube defects in offspring. With the use of Texas livebirth, fetal death, and linked livebirth-death records, the authors conducted a population-based case-control study among 1981-1986 Texas births to examine the association between paternal occupation and anencephalic births. Fathers employed in occupations associated with solvent exposure were more likely to have offspring with anencephaly (odds ratio (OR) = 2.53), with painters having the highest risk (OR = 3.43). A lesser association was found for fathers employed in occupations involving pesticide exposure (OR = 1.28). Further studies are indicated to clarify these associations.

  3. Anencephaly and its Associated Malformations

    OpenAIRE

    Gole, Ravikiran Ashok; Meshram, Pritee Madan; Hattangdi, Shanta Sunil

    2014-01-01

    Introduction: Anencephaly is a serious neural tube defect in which parts of the brain and skull are not developed. But apart from this it is also associated with other malformations which are not related to neural tube in development.

  4. 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.

  5. Anencephaly: MRI findings and pathogenetic theories

    Energy Technology Data Exchange (ETDEWEB)

    Calzolari, Ferdinando [Azienda Ospedaliera Universitaria, Department of Neuroradiology, Ferrara (Italy); Gambi, Beatrice [Ospedale S. Donato, Neonatal Unit, Arezzo (Italy); Garani, Giampaolo; Tamisari, Lalla [Universita degli Studi, Neonatal Unit, Ferrara (Italy)

    2004-12-01

    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.)

  6. 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.)

  7. Anencephaly: An Ongoing Investigation in Washington State.

    Science.gov (United States)

    Barron, Sara

    2016-03-01

    : In the spring of 2012, a nurse in Washington State detected a cluster of babies born with anencephaly-a fatal condition in which infants are born without parts of the brain or skull. The resulting investigation initially confirmed a rate of anencephaly between January 2010 and January 2013 of 8.4 per 10,000 live births-more than four times the national average. As of November 2015, cases of anencephaly in Washington State have continued to increase, with the current rate estimated at 9.5 per 10,000 live births. While no distinct cause has yet been determined, neural tube defects-including anencephaly-are known to have multiple causes, including folic acid deficit, genetic variants in the folate pathway, and exposure to a variety of environmental and occupational toxins. This article describes many of these risk factors and explores the findings of Washington's ongoing investigation. PMID:26914056

  8. Spina bifida and anencephaly in Scotland.

    OpenAIRE

    Carstairs, V.; Cole, S.

    1984-01-01

    Data obtained from routine sources showed that from 1971 to 1982 the birth prevalences of spina bifida and anencephaly in Scotland fell. When known terminations after routine alpha fetoprotein screening were added to total births the adjusted birth prevalence could be calculated. In 1974-82 this fell by 40% for spina bifida (3 X 0-1 X 8) and 36% for anencephaly (2 X 2-1 X 4). These findings were compared with data on birth prevalences in England and Wales, Northern Ireland, and Glasgow. The f...

  9. Concordance rates in twins for anencephaly.

    OpenAIRE

    James, W H

    1980-01-01

    New estimates are offered of the concordance rates in twins for anencephaly. In MZ pairs, the percentage which are concordant is about 7. This is significantly higher than (about three or four times) the value expected on the assumption that concordance is accounted for by raised recurrence rates within sibships. In DZ pairs, the data are less numerous and the percentage concordant (about 2 to 5) does not so far throw much suspicion on this hypothesis in regard to them.

  10. 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.

  11. Anencephaly: a retrospective analysis in Singapore. 1976 to 1980.

    OpenAIRE

    Tan, K C; Ratnam, S S; Kottegoda, S. R.; Karim, S M

    1984-01-01

    Records of 93 cases of anencephaly from three maternity hospitals in Singapore between 1976 and 1980 were analysed. The incidence was 0.54 per 1000 births. No significant correlation between anencephaly and local seasonal conditions could be found for Singapore.

  12. Dichorionic twin pregnancy discordant for fetal anencephaly: a case report

    Directory of Open Access Journals (Sweden)

    Yasemin Taşcı

    2012-03-01

    Full Text Available Dichorionic twin pregnancy discordant for fetal anencephaly is a serious condition that threatens the normal co-twin’s life by causing polyhydramniosis, preterm labor and sudden death of one or both of the fetuses. We report a case of dichorionic twin pregnancy discordant for fetal anencephaly delivered at the 32nd week of gestation because of preterm labor and nonreassuring fetal monitoring. The aim of this case report is to summarize management options in this situation.

  13. Dichorionic twin pregnancy discordant for fetal anencephaly: a case report

    OpenAIRE

    Yasemin Taşcı; Yetkin Karasu 2; Özlem Erten; Burak Karadağ; Ümit Göktolga

    2012-01-01

    Dichorionic twin pregnancy discordant for fetal anencephaly is a serious condition that threatens the normal co-twin’s life by causing polyhydramniosis, preterm labor and sudden death of one or both of the fetuses. We report a case of dichorionic twin pregnancy discordant for fetal anencephaly delivered at the 32nd week of gestation because of preterm labor and nonreassuring fetal monitoring. The aim of this case report is to summarize management options in this situation.

  14. Dicephalus parapagus conjoined twins discordant for anencephaly: a case report

    OpenAIRE

    Udo Jacob J; Archibong Ayi E; Olasode Babatunde J; Usang Usang E; Eduwem Diana-Abasi U

    2010-01-01

    Abstract Introduction Cases of conjoined twins occur so rarely that it is important to learn as much as possible from each case. Case presentation We present a case of 9-hour-old, female, Nigerian dicephalus parapagus conjoined twins discordant for anencephaly diagnosed only after the birth of the twins. The anencephalic twin was stillborn while the normal one died within 9 hours of birth from cardiopulmonary failure. Conclusion Many congenital defects of interest can now be detected before b...

  15. Differences between the events preceding spina bifida and anencephaly.

    OpenAIRE

    James, W H

    1981-01-01

    It is usually held that there is a time continuum in the formation of monoxygotic (MZ) twins which is indexed by their placentation, running from dichorionic to monochorionic diamniotic to monochorionic monoamniotic and conjoined pairs. There is good evidence that this continuum is characterised by a continuum of predisposition to anencephaly, slightly raised in dichorionic pairs but very high in some sorts of conjoined pairs. Although MZ twins, especially monoamniotic and conjoined pairs, ar...

  16. 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...

  17. Discordance for fetal anencephaly in a dichorionic twin pregnancy: A case report

    OpenAIRE

    Isabel Cerveira; Ana Sousa; Laura Raposo; Joana Batista

    2013-01-01

    Anencephaly is a frequent and easily diagnosed condition affecting twin pregnancies with higher incidence than singletons. Discordance for anencephaly in twins raises management dilemmas about the best approach to the situation. The authors report a successful case of a 33 years old woman who had a dichorionic twin pregnancy resulting from ICSI, with discordance for anencephaly. Diagnosis was performed at 13 weeks during first trimester ultrasound screening. A selective feticide with intrath...

  18. Dicephalus parapagus conjoined twins discordant for anencephaly: a case report

    Directory of Open Access Journals (Sweden)

    Udo Jacob J

    2010-02-01

    Full Text Available Abstract Introduction Cases of conjoined twins occur so rarely that it is important to learn as much as possible from each case. Case presentation We present a case of 9-hour-old, female, Nigerian dicephalus parapagus conjoined twins discordant for anencephaly diagnosed only after the birth of the twins. The anencephalic twin was stillborn while the normal one died within 9 hours of birth from cardiopulmonary failure. Conclusion Many congenital defects of interest can now be detected before birth. A severe lesion such as that found in our index case, which is incompatible with postnatal life, requires counselling. If detected early enough during a properly monitored antenatal care, it may indicate termination of pregnancy.

  19. Socioeconomic factors and the risk of anencephaly in a Mexican population: a case-control study.

    OpenAIRE

    Blanco Muñoz, Julia; Lacasaña, Marina; Borja Aburto, Victor Hugo; Torres Sánchez, Luisa Elvira; García García, Ana María; López Carrillo, Lizbeth

    2005-01-01

    OBJECTIVE: The study was designed to evaluate the association between socioeconomic level (as measured by maternal education, maternal occupation, and monthly family income) and anencephaly. METHODS: The authors conducted a case-control study using data from the Epidemiological Surveillance System Register for Neural Tube Defects for three states of the Mexican Republic: Puebla, Guerrero and the State of Mexico. Mothers of 151 cases of infants born with anencephaly and mothers of 151 control ...

  20. A family showing apparent X linked inheritance of both anencephaly and spina bifida.

    OpenAIRE

    Jensson, O; Arnason, A; Gunnarsdottir, H; Petursdottir, I; Fossdal, R; Hreidarsson, S

    1988-01-01

    A family is reported which includes five males, two with spina bifida, two sibs with anencephaly, and one with both high and low spinal lesions. The affected subjects came from four sibships in three generations. The mode of inheritance of these neural tube defects is consistent with X linkage.

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

    OpenAIRE

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

    2011-01-01

    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 d...

  2. A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida

    OpenAIRE

    Williams Helen

    2008-01-01

    Abstract This work is a modified version of the Casey Holter Memorial prize essay presented to the Society for Research into Hydrocephalus and Spina Bifida, June 29th 2007, Heidelberg, Germany. It describes the origin and consequences of the Chiari malformation, and proposes that hydrocephalus is caused by inadequate central nervous system (CNS) venous drainage. A new hypothesis regarding the pathogenesis, anencephaly and spina bifida is described. Any volume increase in the central nervous s...

  3. Diagnostic distinction between anencephaly and amnion rupture sequence based on skeletal analysis.

    OpenAIRE

    Keeling, J W; Kjaer, I

    1994-01-01

    The axial skeletal development of eight second trimester aborted fetuses, clinically diagnosed as amnion rupture sequence with cranial involvement, was examined radiographically and histologically. Three of the eight fetuses showed axial skeletal malformation in the spine and the craniofacial skeleton corresponding to the malformations seen in anencephaly. These are vertebral body malformations, consisting of double corpora and of osseous malformations in the components of the cranial base, t...

  4. Disruption of the MacMARCKS gene prevents cranial neural tube closure and results in anencephaly.

    OpenAIRE

    Chen, J; Chang, S.; Duncan, S A; Okano, H J; Fishell, G.; Aderem, A

    1996-01-01

    MacMARCKS is a member of the MARCKS family of protein kinase C (PKC) substrates. Biochemical evidence demonstrates that these proteins integrate calcium and PKC-dependent signals to regulate actin structure at the membrane. We report here that deletion of the MacMARCKS gene prevents cranial neural tube closure in the developing brain, resulting in anencephaly. This suggests a central role for MacMARCKS and the PKC signal transduction pathway in the folding of the anterior neural plate during ...

  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. Anencefalia e morte cerebral (neurológica Anencephaly and brain death

    Directory of Open Access Journals (Sweden)

    Maria Lúcia Fernandes Penna

    2005-06-01

    Full Text Available Vem-se discutindo no país a ética da interrupção da gravidez no caso de fetos anencéfalos. Os opositores ao aborto nesses casos apontam, entre outros argumentos, que não se trata de morte cerebral devido à presença de tronco encefálico. Neste artigo discutimos o conceito de morte cerebral e sua aplicação no que tange à anencefalia. Apontamos alguns aspectos históricos do desenvolvimento desse conceito e a importância de ser considerada a diferença entre conceito e critérios. A morte neurológica é a perda definitiva e total da consciência, enquanto a presença do tronco cerebral é apenas um critério a ser usado nos casos de lesão encefálica em encéfalos antes perfeitos. O conceito de morte cerebral se aplica completamente à ausência de córtex dos anencéfalos, o que sem dúvida permite sua retirada do útero materno. Manter juridicamente a criminalização desse procedimento é uma interferência religiosa no Estado laico e democrático, que impede o exercício de escolha pelos indivíduos segundo seu credo.Brazilian society has recently discussed the ethics of interrupting pregnancy in the case of an anencephalic fetus. In such cases, anti-abortionists contend that anencephaly is not the same as brain death, since a brainstem is present. This article discusses the concept of brain death and its application to the issue of anencephaly. We point to key historical aspects in the development of this concept and the importance of considering the difference between concept and criteria. Neurological death is the definitive and complete loss of consciousness, while the presence of a brainstem is merely a criterion to be used in cases of head injury in previously intact brains. The concept of brain death is totally applicable to the absence of cortex in a fetus with anencephaly, which without a doubt allows such a fetus to be removed from the uterus. To maintain the criminalization of this procedure by legal means represents

  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. A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida

    Directory of Open Access Journals (Sweden)

    Williams Helen

    2008-04-01

    Full Text Available Abstract This work is a modified version of the Casey Holter Memorial prize essay presented to the Society for Research into Hydrocephalus and Spina Bifida, June 29th 2007, Heidelberg, Germany. It describes the origin and consequences of the Chiari malformation, and proposes that hydrocephalus is caused by inadequate central nervous system (CNS venous drainage. A new hypothesis regarding the pathogenesis, anencephaly and spina bifida is described. Any volume increase in the central nervous system can increase venous pressure. This occurs because veins are compressible and a CNS volume increase may result in reduced venous blood flow. This has the potential to cause progressive increase in cerebrospinal fluid (CSF volume. Venous insufficiency may be caused by any disease that reduces space for venous volume. The flow of CSF has a beneficial effect on venous drainage. In health it moderates central nervous system pressure by moving between the head and spine. Conversely, obstruction to CSF flow causes localised pressure increases, which have an adverse effect on venous drainage. The Chiari malformation is associated with hindbrain herniation, which may be caused by low spinal pressure relative to cranial pressure. In these instances, there are hindbrain-related symptoms caused by cerebellar and brainstem compression. When spinal injury occurs as a result of a Chiari malformation, the primary pathology is posterior fossa hypoplasia, resulting in raised spinal pressure. The small posterior fossa prevents the flow of CSF from the spine to the head as blood enters the central nervous system during movement. Consequently, intermittent increases in spinal pressure caused by movement, result in injury to the spinal cord. It is proposed that posterior fossa hypoplasia, which has origins in fetal life, causes syringomyelia after birth and leads to damage to the spinal cord in spina bifida. It is proposed that hydrocephalus may occur as a result of

  11. Problemas bioéticos en torno a la criatura anencefálica Bioethical Problems related to Anencephaly

    Directory of Open Access Journals (Sweden)

    PABLO VALENZUELA F

    2008-06-01

    Full Text Available La anencefalia se presenta sobre 4 por 1 000 nacidos vivos, es incompatible con la vida extrauterina y puede representar un peligro para la vida de la gestante. No existe en nuestro medio una discusión sobre el problema deontológico que presenta el anencéfalo quien no tiene todas las características propias de un ser, que aún en potencia, pudiese llegar a desarrollar pensamiento y autonomía. El sufrimiento de la madre y consecuentemente del padre y grupo familiar se analiza como argumento para tomar decisiones que en nuestro medio no están protocolizadas. Se discute el problema de la persona humana en el anencéfalo, pilar fundamental en la adquisición de derechos que configuren su tratamiento y se sugieren líneas de trabajo para enfrentar el problemaAnencephaly occurs every 4/1 000 newborns, it is incompatible with extrauterine life and can be dangerous for mother's life. In our society, we do not talk about the ethical question set by anencephaly, whom have not the total attributes of human being, not even the likelihood of thinking and autonomy. Parents and family pain is examinated critically at the time of decisions, something that among us is not regulated. The debate centers on the point of humanity related to anencephalic babies and the right to medical care. On the other hand, some suggestions to deal with this problem are given

  12. MicroRNAs function primarily in the pathogenesis of human anencephaly via the mitogen-activated protein kinase signaling pathway.

    Science.gov (United States)

    Zhang, W D; Yu, X; Fu, X; Huang, S; Jin, S J; Ning, Q; Luo, X P

    2014-01-01

    Anencephaly is one of the most serious forms of neural tube defects (NTDs), a group of congenital central nervous system (CNS) malformations. MicroRNAs (miRNAs) are involved in diverse biological processes via the post-transcriptional regulation of target mRNAs. Although miRNAs play important roles in the development of mammalian CNS, their function in human NTDs remains unknown. Using a miRNA microarray, we identified a unique expression profile in fetal anencephalic brain tissues, characterized by 70 upregulated miRNAs (ratio ≥ 2) and 7 downregulated miRNAs (ratio ≤ 0.5) compared with healthy human samples. Ten miRNAs with altered expression were selected from the microarray findings for validation with real-time quantitative reverse transcription-polymerase chain reaction. We found that in anencephalic tissues, miR-22, miR-23a, miR-34a, miR-103, miR-125a, miR-132, miR-134, miR-138, and miR-185 were significantly upregulated, while miR-149 was significantly downregulated. Furthermore, 459 potential target genes within the validated miRNAs were revealed using combined four target prediction algorithms in the human genome, and subsequently analyzed with the Molecule Annotation System 3.0. A total of 119 target genes were ultimately identified, including those involved in 22 singular annotations (i.e., transcription, signal transduction, and cell cycle) and 55 functional pathways [i.e., mitogen-activated protein kinase (MAPK) signaling pathway, and actin cytoskeleton regulation]. Six target genes (HNRPU, JAG1, FMR1, EGR3, RUNX1T1, and NDEL1) were chosen as candidate genes and associated with congenital birth abnormalities of the brain structure. Our results, therefore, suggest that miRNA maladjustment mainly contributes to the etiopathogenesis of anencephaly via the MAPK signaling pathway. PMID:24634123

  13. Lack of serologic evidence for an association between Cache Valley Virus infection and anencephaly and other neural tube defects in Texas.

    OpenAIRE

    Edwards, J. F.; Hendricks, K

    1997-01-01

    We tested the hypothesis that Cache Valley Virus (CVV), an endemic North American bunyavirus, may be involved in the pathogenesis of human neural tube defects. This investigation followed a 1990 and 1991 south Texas outbreak of neural tube defects with a high prevalence of anencephaly and the demonstration in 1987 that in utero infection by CVV was the cause of outbreaks of central nervous system and musculoskeletal defects in North American ruminants. Sera from 74 women who gave birth to inf...

  14. Anencefalia: um estudo epidemiológico de treze anos na cidade de Pelotas Anencephaly: thirteen years of epidemiological study in Pelotas city

    Directory of Open Access Journals (Sweden)

    Ricardo Ramires Fernández

    2005-03-01

    Full Text Available A anencefalia é a forma letal mais comum dentre as anomalias do SNC. Apesar dos casos isolados, a anencefalia parece ser de causa multifatorial. Este defeito ocorre devido a um não fechamento da extremidade anterior do sulco neural. Este trabalho, que tem como objetivo estudar a freqüência, a etiologia e os fatores predisponentes desta malformação, é um estudo de caso-controle de base populacional que abrange todos os nascimentos ocorridos nas cinco maternidades da cidade de Pelotas, durante o período de 1º de janeiro de 1990 a 31 de dezembro de 2002.The anencephaly is the most common lethal form among the CNS anomalies. Although isolated cases occur, the anencephaly seems to be caused by multiple factors. This malformation result from closure defects of the anterior neural sulk, during embryonic development. The aim of this study was analyze the frequency, etiology, and the risk factors of this congenital malformation. This population-based case-control study range all births occurred in five maternities of Pelotas city from January, 1st 1990 to December, 12 2002.

  15. 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 ...

  16. Facts about Anencephaly

    Science.gov (United States)

    ... the Aorta Hypoplastic Left Heart Syndrome Pulmonary Atresia Tetralogy of Fallot Total Anomalous Pulmonary Venous Return Transposition of the ... Coarctation of the Aorta Hypoplastic left heart syndrome Tetralogy of Fallot Other types of heart defects Omphalocele Spina Bifida ...

  17. A magnitude do aborto por anencefalia: um estudo com médicos Anencephaly: the magnitude of the judicial authorization among medical doctors in Brazil

    Directory of Open Access Journals (Sweden)

    Debora Diniz

    2009-10-01

    Full Text Available Este artigo tem por objetivo descrever a magnitude da assistência médica em casos de gravidez de feto com anencefalia, por meio de uma pesquisa empírica com médicos. A anencefalia é uma má-formação incompatível com a sobrevida do feto após o parto. O direito à interrupção da gestação nesse caso é tema de ação no Supremo Tribunal Federal. Realizou-se uma pesquisa tipo survey com 1.814 médicos, filiados à Federação Brasileira das Associações de Ginecologia e Obstetrícia (Febrasgo, o que corresponde a 12% do total de médicos da entidade. Os resultados indicam que, em um universo de 9.730 mulheres atendidas pelos médicos nos últimos vinte anos, 85% preferiram interromper a gestação nesse caso. Esse dado mostra o quanto a assistência médica a mulheres grávidas de fetos com anencefalia é uma experiência cotidiana nos serviços de saúde, bem como o desafio ético imposto pela ilegalidade do procedimento médico de interrupção da gestação nesses casos.This paper describes the magnitude of the medical care for pregnant women with an anencephalic fetus. Anencephaly is an abnormality incompatible with life. The right to abort in this case is under litigation at the Brazilian Supreme Court. This survey was conducted among 1,814 medical doctors, all of them affiliated to the Brazilian Federation of Gynecology and Obstetrics (Febrasgo, corresponding to 12% of the doctors within this federation. The results show that, in a group of 9,730 women cared by the physicians over the last 20 years, 85% preferred to interrupt pregnancy in case of anencephaly. This fact reveals how common the experience of assist women pregnant with an anencephalic fetus is in health care services, as well as the ethical challenge imposed by the restrictive Brazilian legislation on abortion.

  18. Central nervous system malformations anencephaly and encephalocele: A report of two cases (Malformaciones del sistema nervioso central anencefalia y encefalocele: Reporte de dos casos

    Directory of Open Access Journals (Sweden)

    Peñaloza-Valenzuela Juan José

    2011-11-01

    Full Text Available It is reported one case of anencephaly and one encephalocele. Theyare defects of neural tube phenotypically different, with differentprognosis and different therapeutic approach, they were at HospitalMaterno Infantil Germán Urquidi of Cochabamba.The first case is a 19 year old primigravida who comes with laborfor 8 hours, with gestation of 23 weeks, without any antenatalcare, with stable vital signs, uterine height 19 cm, product indifferent situation UD 3/10/30/++, fetal heart rate inaudible, 4 cm of central cervical dilatation, intact membranes, pelvic pole. She isadmitted with diagnoses of: G1D0, 23 weeks pregnancy, stillbirth,labor, it was attended a stillbirth delivery of female sex weighing985 grams, APGAR 0, with no brain nor cranial, exophthalmos andspina bifida.The second case is a 21-year second pregnancy woman remittedto Vinto Hospital she was asymptomatic with uterine height of 20cm, fetus in a longitudinal, pelvic presentation, fetal heart rate of140 x min without dynamic uterine or cervical changes. She wasadmitted with diagnoses of: G2 D1, 25 weeks pregnancy, live fetusand congenital malformation. The laboratories report: Urinarytract infection, toxoplasmosis, cytomegalovirus and high alphafetoprotein.Ultrasound matches occipital cephalocele and acrania.Delivery is induced obtaining a male death product with a weight of1086 g, height of 37 cm, APGAR 0, with solution of continuity inthe occipital region in which the brain protrudes with its meninges,and scalp.Both patients enrolled in the puerperium favorably. -RESUMEN: Se presenta un caso de anencefalia y otro de encefalocele; defectos de cierre del tubo neural fenotípicamente distintos, con diferente pronóstico y distinto manejo terapéutico, atendidos en el Hospital Materno Infantil Germán Urquidi de Cochabamba.El 1er caso corresponde a una primigesta de 19 años que acude contrabajo de parto de 8 horas, con gestación de 23 semanas; sin ningúncontrol prenatal; con signos

  19. Anencephaly: Do the Pregnancy and Maternal Characteristics Impact the Pregnancy Outcome?

    OpenAIRE

    Isabela Nelly Machado; Sílvia Dante Martinez; Ricardo Barini

    2012-01-01

    Objective. To describe the characteristics of obstetric and perinatal outcome of a group of pregnancies complicated by an anencephalic fetus. Methods. Observational study including anencephalic fetuses, divided into groups according to the evolution of pregnancy: elective termination of pregnancy ETP; stillbirths (SBs); live births (LBs), and loss of follow-up. After a univariate description of the sample, some variables were compared using statistical tests. Results. 180 anencephalic fetuses...

  20. Anencefalia e morte cerebral (neurológica) Anencephaly and brain death

    OpenAIRE

    Maria Lúcia Fernandes Penna

    2005-01-01

    Vem-se discutindo no país a ética da interrupção da gravidez no caso de fetos anencéfalos. Os opositores ao aborto nesses casos apontam, entre outros argumentos, que não se trata de morte cerebral devido à presença de tronco encefálico. Neste artigo discutimos o conceito de morte cerebral e sua aplicação no que tange à anencefalia. Apontamos alguns aspectos históricos do desenvolvimento desse conceito e a importância de ser considerada a diferença entre conceito e critérios. A morte neurológi...

  1. Problemas bioéticos en torno a la criatura anencefálica Bioethical Problems related to Anencephaly

    OpenAIRE

    PABLO VALENZUELA F

    2008-01-01

    La anencefalia se presenta sobre 4 por 1 000 nacidos vivos, es incompatible con la vida extrauterina y puede representar un peligro para la vida de la gestante. No existe en nuestro medio una discusión sobre el problema deontológico que presenta el anencéfalo quien no tiene todas las características propias de un ser, que aún en potencia, pudiese llegar a desarrollar pensamiento y autonomía. El sufrimiento de la madre y consecuentemente del padre y grupo familiar se analiza como argumento par...

  2. Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects

    OpenAIRE

    Danielle R. Lucon; Luciene M. Zanchetta; Cavalcanti, Denise P.

    2006-01-01

    Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype.

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

    OpenAIRE

    Debora Diniz; Ana Cristina Gonzalez Vélez

    2008-01-01

    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...

  4. Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects

    Directory of Open Access Journals (Sweden)

    Danielle R. Lucon

    2006-01-01

    Full Text Available Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD and a 47,XY,+21[5]/46,XX[30] karyotype.

  5. Anencefalia: um estudo epidemiológico de treze anos na cidade de Pelotas Anencephaly: thirteen years of epidemiological study in Pelotas city

    OpenAIRE

    Ricardo Ramires Fernández; Daniela Zílio Larentis; Tiago Fontana; Gustavo Pêgas Jaeger; Patrick Botelho Moreira; Gilberto de Lima Garcias; Maria da Graça Martino Roth

    2005-01-01

    A anencefalia é a forma letal mais comum dentre as anomalias do SNC. Apesar dos casos isolados, a anencefalia parece ser de causa multifatorial. Este defeito ocorre devido a um não fechamento da extremidade anterior do sulco neural. Este trabalho, que tem como objetivo estudar a freqüência, a etiologia e os fatores predisponentes desta malformação, é um estudo de caso-controle de base populacional que abrange todos os nascimentos ocorridos nas cinco maternidades da cidade de Pelotas, durante ...

  6. A magnitude do aborto por anencefalia: um estudo com médicos Anencephaly: the magnitude of the judicial authorization among medical doctors in Brazil

    OpenAIRE

    Debora Diniz; Janaína Penalva; Aníbal Faúndes; Cristião Rosas

    2009-01-01

    Este artigo tem por objetivo descrever a magnitude da assistência médica em casos de gravidez de feto com anencefalia, por meio de uma pesquisa empírica com médicos. A anencefalia é uma má-formação incompatível com a sobrevida do feto após o parto. O direito à interrupção da gestação nesse caso é tema de ação no Supremo Tribunal Federal. Realizou-se uma pesquisa tipo survey com 1.814 médicos, filiados à Federação Brasileira das Associações de Ginecologia e Obstetrícia (Febrasgo), o que corres...

  7. Urban-Rural Variation in the Occurrence of Neural Tube Defects in Texas

    Science.gov (United States)

    This study examined the pattern and magnitude of urban-rural variation in anencephaly, spina bifida without anencephaly, and encephalocele in Texas using four different indicators of urban-rural status for the period 1999 to 2003.

  8. Central nervous system injury in utero: selected entities.

    Science.gov (United States)

    Naidich, Thomas P; Griffiths, Paul D; Rosenbloom, Lorne

    2015-09-01

    This report discusses the syndrome of amnionic bands, anencephaly, schizencephaly and hydranencephaly, four entities whose pathogenesis includes significant injury to the fetus in utero. PMID:26346151

  9. 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)

  10. How Many People Are Affected By or Are at Risk for Neural Tube Defects?

    Science.gov (United States)

    ... and iniencephaly are more common in females. Many pregnancies that involve anencephaly end in miscarriage. These conditions are more common in infants born to Hispanic women than those born to non-Hispanic white ...

  11. 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

    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...... 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...

  12. Folic Acid Questions and Answers

    Science.gov (United States)

    ... A : Birth defects of the brain and spine ( anencephaly and spina bifida ) happen in the first few ... Women who had one pregnancy affected by a neural tube defect might have another. You may need to take ...

  13. Quadruple screen test

    Science.gov (United States)

    ... defects of the spinal column and brain (called neural tube defects). This test is a screening test, so it ... Absence of part of the brain and skull (anencephaly) Defect in the baby's intestines or other nearby ...

  14. Encephaloceles

    Science.gov (United States)

    ... Trials Organizations What are Encephaloceles? Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the brain ... families with a history of spina bifida and anencephaly in family members. Is there any treatment? Generally, ...

  15. Iniencephaly

    Science.gov (United States)

    ... development. Iniencephaly is in the same family of neural tube defects as spina bifida, but it is more severe. ... with iniencephaly have additional birth defects, such as anencephaly (in which major sections of the brain fail ...

  16. Folic acid and birth defect prevention

    Science.gov (United States)

    ... of certain birth defects. These include spina bifida, anencephaly, and some heart defects. Experts recommend women who ... Women who have had a baby with a neural tube defect may need a higher dose of folic acid. ...

  17. Neural Tube Defects

    Science.gov (United States)

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

  18. What Are the Treatments for Neural Tube Defects?

    Science.gov (United States)

    ... Resources and Publications What are the treatments for neural tube defects? Skip sharing on social media links Share this: ... the long term. There is no treatment for anencephaly or iniencephaly. 2 These conditions are usually fatal ...

  19. 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...

  20. Maternal alpha-fetoprotein screening: two years' experience in a low-risk district

    OpenAIRE

    1981-01-01

    Over a two-year period, 3479 pregnant women in the Kings' Lynn Health District were screened for neural tube defects by estimation of maternal serum alpha-fetoprotein. Most pregnancies were scanned by sonar for fetal maturity. Eight women had fetuses with open neural tube defects; four with anencephaly were associated with very high alpha-fetoprotein values. Of the four with open neural tube defects without anencephaly, only one was detected by screening and confirmed after amniocentesis. One...

  1. FETO ANENCÉFALO: SUAS IMPLICAÇÕES NO ORDENAMENTO JURÍDICO BRASILEIRO

    OpenAIRE

    Graziela Trojan Repiso; Daniele Cristine Cândido

    2011-01-01

    This research aims to address legal aspects of fetal anencephaly. Atfirst the scientific aspects will be informed of anencephaly, then it is made a regression on the historic fundamental rights as human dignity, rights of personality and finally the right to life that involves the anencephalic fetus. It will be discussed in cases of punishable crime of abortion as well as their exclusion of unlawfulness. It is also explained the current issues involving the subject, as the exposure of the acc...

  2. Ergenlikte Kawasaki hastalığı

    OpenAIRE

    Sinem Altunyuva Usta; Figen Akalın,

    2013-01-01

    Currently a large number of patients are waiting for organ transplantation and newborns with anencephaly are thought to be potential candidates for organ transplantation A male baby was born to a 30 year old mother after 38 weeks of gestation with a birth weight of 2430 g Antenatal ultrasonography performed during the last months of the pregnancy revealed the presence of anencephaly The parents were asked for organ donation from the infant and informed consent was obtained The infant died at ...

  3. Do familial neural tube defects breed true?

    OpenAIRE

    Drainer, E; May, H M; Tolmie, J L

    1991-01-01

    The tendency for sibs affected by non-syndromal neural tube defect (NTD) to have the same type of lesion was assessed retrospectively in a series of 66 affected sibships from the west of Scotland. Different schemes were used to classify the lesions: in the simplest classification into either anencephaly (including anencephaly-spina bifida) or spina bifida there was a tendency for spina bifida to breed true. More detailed description of the NTD in 48 sibships permitted classification according...

  4. MEROENCEPHALY

    OpenAIRE

    Abhijeet Yadav; Mukul Yadav

    2014-01-01

    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...

  5. Prenatal tanı konulan non sendromik anensefalik korkodon ikiz gebelik

    OpenAIRE

    GÜVEN, Melih Atahan; Ceylaner, Serdar; ERTAŞ, İbrahim Egemen

    2005-01-01

    A 33-year-old pregnant woman gravida 5 para 3 was referred to the obstetric clinic of Kahramanmaras Sutcu Imam University presenting with monochorionic monoaniotic twin pregnancy and anencephaly in both fetuses at 28 weeks of gestation. Prenatal ultrasonographic examination revealed concordant anencephaly. Meticulous neonatal examination by a dysmorphologist was performed following vaginal delivery and confirmed the prenatal findings. In this case; prenatally diagnosed non-syndromic anencepha...

  6. The role of organ transplantation from anencephalic neonates: A case report

    OpenAIRE

    Mehmet Yekta Öncel; Erhan Çalışıcı; Hatice Tatar Aksoy; Ramazan Özdemir; Şerife Suna Oğuz; Ömer Erdeve; Nurdan Uraş; Uğur Dilmen

    2013-01-01

    Currently, a large number of patients are waiting for organ transplantation and newborns with anencephaly are thought to be potential candidates for organ transplantation. A male baby was born to a 30-year-old mother after 38 weeks of gestation with a birth weight of 2430 g. Antenatal ultrasonography performed during the last months of the pregnancy revealed the presence of anencephaly. The parents were asked for organ donation from the infant and informed consent was obtained. The infant die...

  7. The range of neural tube defects in southern India.

    OpenAIRE

    Kulkarni, M L; Mathew, M A; Reddy, V

    1989-01-01

    During a prospective study of 3500 consecutive births from November 1985 to January 1987 at three hospitals, 40 babies were found to have neural tube defects, an extremely high incidence (11.4/1000 births). The defects comprised anencephaly (n = 18), meningomyelocele (n = 11), Arnold-Chiari deformity (n = 3), encephalocele (n = 3), iniencephaly (n = 2), and one each of occipital meningocele, spina bifida occulta, and anencephaly with rachischisis. There were significant differences in inciden...

  8. Case Report : Intrauterin Sonographic Fndings Of Acrania

    OpenAIRE

    Köseoğlu, Kutsi; Dayanır, Yelda; Keçeli, Merter; Odabaşı, Alirıza

    2003-01-01

    Acrania (exencephaly) is a rare developmental abnormality characterized by partial or complete absence of the cranium with nearly complete development of brain tissue. Acrania can be differentiated sonographically from anencephaly by the presence of cortical brain tissue. We report two cases of acrania which are detected by transabdominal sonography in the 14th-15th weeks of gestation and sonographic findings of acrania and anencephaly are discussed. Key words: Acrania, Ex...

  9. FETO ANENCÉFALO: SUAS IMPLICAÇÕES NO ORDENAMENTO JURÍDICO BRASILEIRO

    Directory of Open Access Journals (Sweden)

    Graziela Trojan Repiso

    2011-01-01

    Full Text Available This research aims to address legal aspects of fetal anencephaly. Atfirst the scientific aspects will be informed of anencephaly, then it is made a regression on the historic fundamental rights as human dignity, rights of personality and finally the right to life that involves the anencephalic fetus. It will be discussed in cases of punishable crime of abortion as well as their exclusion of unlawfulness. It is also explained the current issues involving the subject, as the exposure of the accusation of breach of fundamental precept, with the Supreme Court, the controversy caused by the granting and subsequent appeal of the injunction issuedby the monocratic Minister Marco Aurélio de Mello authorizing the practice of anticipating of labor in cases of anencephaly, and finally the calling the most different law bodies to follow a greater gather public hearing before the Supreme Court, held in August of 2008.

  10. Alterations of skull bones found in anencephalic skeletons from an identified osteological collection. Two case reports.

    Science.gov (United States)

    Irurita, Javier; Alemán, Inmaculada; Viciano, Joan; López-Lázaro, Sandra; Botella, Miguel Cecilio

    2015-07-01

    One of the most common conditions during fetal development is anencephaly, which often involves many identification difficulties in the context of physical anthropology, as it causes severe skull challenges. In this paper, we describe the alterations found in the skulls of two perinatal individuals with anencephaly from the osteological collection of identified infants in the Anthropology Laboratory of the University of Granada, Spain. Both subjects of study are in perfect state of preservation. Despite the severe malformations, all skull bones have been targeted and identified, as the possibility of studying a subject with a complete, articulated, and partially mummified skull; the other was disjointed and well preserved. The skull bones of these two individuals affected with anencephaly have been described in detail, allowing this pathological condition to be identified in skeletonized individuals in archaeological or forensic contexts, in cases where these bones did not have anatomical connection or when these were taphonomically altered. PMID:25416960

  11. 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.

  12. 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…

  13. Prevention of Neural Tube Defects. ARC Q&A #101-45.

    Science.gov (United States)

    Arc, Arlington, TX.

    This fact sheet uses a question-and-answer format to summarize issues related to the prevention of neural tube defects. Questions and answers address the following topics: what neural tube defects are and the most common types (spina bifida and anencephaly); occurrence of neural tube defects during the first month of pregnancy; the frequency of…

  14. Ring chromosome 13

    DEFF Research Database (Denmark)

    Brandt, C A; Hertz, Jens Michael; Petersen, M B; Vogel, F; Noer, H; Mikkelsen, M

    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...

  15. 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

  16. 76 FR 44334 - Proposed Data Collections Submitted for Public Comment and Recommendations

    Science.gov (United States)

    2011-07-25

    ... focus groups, who do not have a child with a birth defect such as spina bifida or anencephaly. The... Communication Research on Folic Acid to Support the Division of Birth Defects and Developmental Disabilities--New--National Center on Birth Defects and Developmental Disabilities (NCBDDD), Centers for...

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

    DEFF Research Database (Denmark)

    Rasmussen, Lone Banke; Andersen, Niels Lyhne; Andersson, G.; Lange, A. P.; Rasmussen, K.; Skak-Iversen, L.; Skovby, F.; Ovesen, L.

    1998-01-01

    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...

  18. [Prevalence of neural tube defects and estimation of cases averted in the post-fortification period in Argentina].

    Science.gov (United States)

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

    2015-12-01

    Periconceptional intake of folic acid has demonstrated to be effective to reduce the frequency of neural tube defects, and food fortification has been one of the strategies implemented to increase it. An update is herein presented on the reduced prevalence of neural tube defect cases in the post-fortification period in Argentina and an estimation of cases averted in the 2005-2013 period as a result of this intervention. When comparing the prevalence observed in the post-fortification period to that reported in the pre-fortification period, anencephaly and encephalocele decreased by 66%, and spina bifida, by 47%, which were significant reductions. The estimated number of cases averted was higher for anencephaly, followed by spina bifida; encephalocele showed the lowest number of cases averted given that the prevalence of this defect was smaller. The decrease observed in the prevalence supports findings from previous studies on the impact of fortification. PMID:26593794

  19. Sex ratio of congenital abnormalities in the function of maternal age: a population-based study.

    Science.gov (United States)

    Csermely, Gyula; Urbán, Robert; Czeizel, Andrew E; Veszprémi, Béla

    2015-05-01

    Maternal age effect is well-known in the origin of numerical chromosomal aberrations and some isolated congenital abnormalities (CAs). The sex ratio (SR), i.e. number of males divided by the number of males and females together, of most CAs deviates from the SR of newborn population (0.51). The objective of this analysis was to evaluate the possible association of maternal age with the SR of isolated CAs in a population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996. First, SR of 24 CA entities/groups was estimated in 21,494 patients with isolated CA. In the next step SR of different maternal age groups was compared to the mean SR of the given CA-groups. The SR of four CA-groups showed some deviation in certain maternal age groups. Cases with anencephaly had female excess in young mothers (anencephaly and craniosynostosis. PMID:25354028

  20. Neu-Laxova syndrome: a case report.

    Science.gov (United States)

    Roy, S; Begum, J; Sharifunnaher, B; Saha, A K; Afroza, S; Islam, M Z

    2014-01-01

    Neu-Laxova syndrome (NLS) is a rare lethal syndrome found in both consanguinous and non-consanguinous couple. This is characterized by terrible face with unusual craniofacial appearance with exophthalmos, spectrum of central nervous system malformation, like microcaphaly, hypoplastic cerebellum, cleft lip/palate, ichthyosis and oedema. The diagnosis is made on the basis of clinical parameter. We report a 4 hour old male term newborn with IUGR of Neu-Laxova syndrome presented with anencephaly, rudimentary cerebellum, exophthalmos of right eye, bilateral cleft lip and palate and cryptorchidism. Anencephaly and cryptorchidism are two recently reported findings of NLS. We are presenting this case in addition from Bangladesh to lend further support to those two new findings as component of Neu-Laxova syndrome. Outcome of this syndrome is not good. Most of the patients are died of infection within hours to days. PMID:24584393

  1. 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...

  2. Female predisposition to cranial neural tube defects is not because of a difference between the sexes in the rate of embryonic growth or development during neurulation.

    OpenAIRE

    Brook, F A; Estibeiro, J P; Copp, A J

    1994-01-01

    The susceptibility of females to anencephaly is well established and has been suggested to result from a slower rate of growth and development of female embryos during cranial neurulation. We have tested this hypothesis by measuring the rates of growth and development, both in utero and in vitro, of male and female embryos of the curly tail (ct) mutant mouse strain, in which cranial neural tube defects occur primarily in females. Embryonic growth was assessed by increase in protein content, w...

  3. Screening for congenital neural tube defects in a high-risk area: an epidemiological perspective.

    OpenAIRE

    Stone, D H; Smalls, M J; Rosenberg, K; Womersley, J

    1988-01-01

    Data from the Glasgow Register of Congenital Malformations were used to investigate the extent of the recent decline in the prevalence of anencephaly and spina bifida, and the contribution of antenatal screening to it. Over the period 1974-85 inclusive, 303 pregnancies with an anencephalic foetus were diagnosed, representing an "adjusted" prevalence of 1.9 per 1000 total births, of which 179 (59%) were terminated following antenatal screening. There were 364 pregnancies with a spina bifida fo...

  4. Resultados del Programa de Prevención de Defectos de Tubo Neural en Chile mediante la fortificación de la harina con ácido fólico: Período 2001-2010

    OpenAIRE

    Julio Nazer H; Lucía Cifuentes O

    2013-01-01

    Background: Congenital malformations (CMF) have an important role in infant mortality. Neural tube defects (NTD) have great relevance from both social and public health points of view. The ECLAMC (Collaborative Latin American Study of Congenital Malformations) maintains in Chile an epidemiological surveillance of CMF prevalence rate at birth since 1969. Aim: To assess the effect of wheat flour folic acid fortification on the prevalence of NTD. Patients and Methods: Only Anencephaly, Spina bif...

  5. Residential Agricultural Pesticide Exposures and Risk of Neural Tube Defects and Orofacial Clefts Among Offspring in the San Joaquin Valley of California

    OpenAIRE

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

    2014-01-01

    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 i...

  6. NEURAL TUBE DEFECTS PREVALENCE IN A HOSPITAL-BASED STUDY IN URMIA

    OpenAIRE

    I. Abdi Rad; H.R. Farrokh-Islamlou; M. Khoshkalam

    2008-01-01

    AbstractObjectiveNeural tube defects including anencephaly, encephalocele, and spina bifida are major congenital malformations with multifactorial etiology, and with a great variation in their prevalence in different populations. The study on the prevalence of these malformations may be helpful in planning strategies for their prevention. The aim of this epidemiologic descriptive study was to determine the prevalence of neural tube defects and to describe their birth characteristics in Motahh...

  7. Estatuto ontológico y ético del feto anencefálico: Una perspectiva filosófica Ontological and ethical statute of anencephalic fetus

    OpenAIRE

    Mauricio Besio R; Francisca Besio H

    2008-01-01

    Due to advances in prenatal techniques, it is now possible to diagnose malformations in útero, such as anencephaly, which in the past was only known at birth. Having knowledge of a malformation before birth, the moment in which almost every individual obtains social and legal protection, puts the malformed fetus in a vulnerable situation toward possible actions that lead to the interruption of pregnancy. The aim of this article is to analyze different positions about the quality and reality o...

  8. Amniocentesis in the West Midlands: report on 1000 births

    OpenAIRE

    Webb, Tessa; Edwards, J H; Cameron, A. H.; Crawley, J Margaret; Hulten, Maj; Rushton, D. I.; Thompson, R. A.

    1980-01-01

    Two laboratories in the West Midlands have monitored 1000 `at risk' pregnancies. Of these 57% were referred for chromosomal indications and 43% for possible neural tube defects. The largest at risk groups (both 37%) were those mothers who had already had a pregnancy resulting in a baby with a neural tube defect (21% spina bifida and 16% anencephaly), and those who were referred because of the increased risk of Down's syndrome in pregnancies where the mother was over 35 years old. Six percent ...

  9. “Acrania”: Two Case Reports With Prenatal Ultrasound Results

    OpenAIRE

    Mustafa Koç; Gökhan Akbaş

    2008-01-01

    AbstractAcrania is a rare congenital anomaly and characterized by partial or complete absence of the calvarium with abnormal brain tissue development. The pathogenesis of acrania is unknown and differential diagnosis should be searched to rule out other similer conditions to anencephaly and acalvaria. Diagnosis of cranial bone defects can be established by ultrasonography in the first trimester of pregnancy. We report two cases, diagnosed prenatally by ultrasonography, one with isolated acran...

  10. Assessment of fetal malformations in the first trimester of pregnancy by three-dimensional ultrasonography in the rendering mode. Pictorial essay.

    Science.gov (United States)

    Araujo Júnior, Edward; Rolo, Liliam Cristine; Tonni, Gabriele; Haeri, Sina; Ruano, Rodrigo

    2015-03-01

    We present our experience in the contribution of three-dimensional ultrasonography, using the rendering mode, to the prenatal diagnosis of congenital anomalies including neurological defects (acrania/anencephaly, encephalocele, holoprosencephaly), facial anomalies (cyclopia and facial clefts), abdominal wall defects (omphalocele and gastroschisis) and defects of extremities (fetal muscle-skeletal dysplasias). Three-dimensional ultrasonography may contribute to improve the prenatal diagnosis with further revision of the fetal images, allowing a better prenatal counsel to the parents. PMID:25745664

  11. Neural Tube Defect Spectrum - Study of Craniorachischisis

    OpenAIRE

    Rashmi Deopujari; Ashutosh Mangalgiri; Asha Dixit ,; G.S. Longia

    2011-01-01

    Neural tube defect spectrum (NTD) includes anencephaly, spina bifida, craniorachischisis, inencephaly etc. Four cases of craniorachischisis were studied from a collection of 34 aborted fetuses. There was deficiency of scalp and cranial vault in all the four cases. In one case the defect was extending up to the cervical region, in rest of the three cases, vertebral column defect extended upto thoracic region exposing the spinal cord and spinal nerves. All the cases presented with bulging eyes,...

  12. Rare case of congenital anomaly in two different gestational ages: a case series

    OpenAIRE

    John, Lopamudra B.; Sendhil Coumary A; Seetesh Ghose

    2013-01-01

    Acrania is a rare congenital anomaly involving faulty development of membranous flat bones of neurocalvarium. Commonest differential diagnosis is anencephaly. The first case was diagnosed in a second gravida at 13 weeks and terminated by vaginal misoprostol instillation. The second case was diagnosed only by scan at 32 weeks in an unbooked second gravida with previous LSCS. She underwent emergency LSCS for failed induction and a fresh stillborn baby of 1.9 kg was born. [Int J Reprod Contracep...

  13. Insights into Metabolic Mechanisms Underlying Folate-Responsive Neural Tube Defects: A Minireview

    OpenAIRE

    Beaudin, Anna E; Stover, Patrick J.

    2009-01-01

    Neural tube defects (NTDs), including anencephaly and spina bifida, arise from the failure of neurulation during early embryonic development. Neural tube defects are common birth defects with a heterogenous and multifactorial etiology with interacting genetic and environmental risk factors. Although the mechanisms resulting in failure of neural tube closure are unknown, up to 70% of NTDs can be prevented by maternal folic acid supplementation. However, the metabolic mechanisms underlying the ...

  14. “Acrania”: Two Case Reports With Prenatal Ultrasound Results

    Directory of Open Access Journals (Sweden)

    Mustafa Koç

    2008-06-01

    Full Text Available AbstractAcrania is a rare congenital anomaly and characterized by partial or complete absence of the calvarium with abnormal brain tissue development. The pathogenesis of acrania is unknown and differential diagnosis should be searched to rule out other similer conditions to anencephaly and acalvaria. Diagnosis of cranial bone defects can be established by ultrasonography in the first trimester of pregnancy. We report two cases, diagnosed prenatally by ultrasonography, one with isolated acrania and the other one associated with meningocele.

  15. Neural Tube Defects

    OpenAIRE

    Greene, Nicholas D. E.; Copp, Andrew J.

    2014-01-01

    Neural tube defects (NTDs), including spina bifida and anencephaly, are severe birth defects of the central nervous system that originate during embryonic development when the neural tube fails to close completely. Human NTDs are multifactorial, with contributions from both genetic and environmental factors. The genetic basis is not yet well understood, but several nongenetic risk factors have been identified as have possibilities for prevention by maternal folic acid supplementation. Mechani...

  16. An example of record linkage methods to monitor mortality and cancer incidence

    OpenAIRE

    Stark, Alice D.; Janerich, Dwight T.; Jereb, Susan K.; Hoff, Margaret

    1983-01-01

    Linkage of New York State record systems was the key strategy in a restrospective cohort study with a 24–34 year followup interval. Parents of children with anencephaly or spina bifida and matched control parents were traced to determine the parents' cancer and death experience. Birth certificates for Upstate New York for 1945–55 were the source of the study groups. This report describes the methodology employed. The New York State Health Department's Cancer Registry and vital records, the St...

  17. Changing trend of neural tube defects in eastern Turkey.

    OpenAIRE

    Güvenc, H; Uslu, M A; Güvenc, M; Ozekici, U; Kocabay, K.; Bektaş, S

    1993-01-01

    STUDY OBJECTIVE--The aim was to study the relationship between birth prevalence of neural tube defect (including anencephaly) in Eastern Turkey before and after the Chernobyl disaster. DESIGN--This was a prospective study of time trends in live births and stillbirths over the years 1985-1990. Medical and sociodemographic data were recorded for the mothers. SETTING--Elazig, Eastern Turkey. SUBJECTS--There were 5240 live births and stillbirths during the study period, 24 of whom had neural tube...

  18. Marijuana, Spice ‘herbal high’, and early neural development: implications for rescheduling and legalization

    OpenAIRE

    Psychoyos, Delphine; Vinod, K. Yaragudri

    2012-01-01

    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...

  19. Defeitos do Tubo Neural. Experiência de 10 Anos numa Maternidade Central

    OpenAIRE

    Teixeira, AL; Loreto, H; Machado, MC; Ramos de Almeida, JM

    1994-01-01

    OBJECTIVES: 1) To determine trends in prevalence of neural tube defects and the impact of therapeutic abortion. 2) To review perinatal management of spina bifida. DESIGN: All spontaneous and therapeutic abortions, still births and live births affected by neural tube defects registered in Alfredo da Costa Maternity in Lisbon, from 1983 to 1992, were retrospectively analysed. RESULTS: Eighty-two cases with neural tube defects are reported and myelomeningocele and anencephaly++ were the ...

  20. NEURAL TUBE DEFECTS PREVALENCE IN A HOSPITAL-BASED STUDY IN URMIA

    Directory of Open Access Journals (Sweden)

    I. Abdi Rad

    2008-10-01

    Full Text Available AbstractObjectiveNeural tube defects including anencephaly, encephalocele, and spina bifida are major congenital malformations with multifactorial etiology, and with a great variation in their prevalence in different populations. The study on the prevalence of these malformations may be helpful in planning strategies for their prevention. The aim of this epidemiologic descriptive study was to determine the prevalence of neural tube defects and to describe their birth characteristics in Motahhari hospital, Urmia, West Azerbaijan.Materials and MethodsA cross-section observational study was carried on the hospital-based charts of consecutive 13997 live-births and 124 stillbirths during the period January 2001 through June 2005. The defects categorized based on the domains of anencephaly, spina bifida, and encephalocele according to standard definitions.ResultsDuring this period, 117 cases were detected with neural tube defects, giving an overall  prevalence of 8.29/1000. Of 117 cases, 81 (69.23% cases were seen among stillbirths and 36 (30.77% cases among live-births, that is, the prevalence of neural tube defects for stillbirths and live-births were 653.2/1000 and 2.57/1000 respectively. The yearly prevalence varies between 6.99/1000 and 9.82/1000 over the 4.5-year period. The major lesion was  anencephaly with prevalence of 5.52/1000 (66.67% of all neural tube defects. Approximately, two-thirds (66.09% of cases were found in females. Weights of 73.36% of anencephalic cases wereless than 1000 grams.ConclusionIn this study, the prevalence of neural tube defects is among the highest reported rates. There was a significance difference in the prevalence of anencephaly, as the most prevalent NTD, between live-births and stillbirths. These findings may necessitate an intensive approach to periconceptional folic acid supplementation as a possible strategy to reduce the prevalence of these defects. Keywords: Prevalence, Neural Tube Defects, Anencephaly

  1. Variants in maternal COMT and MTHFR genes and risk of neural tube defects in offspring.

    Science.gov (United States)

    Liu, Jufen; Zhang, Yali; Jin, Lei; Li, Guoxing; Wang, Linlin; Bao, Yanping; Fu, Yunting; Li, Zhiwen; Zhang, Le; Ye, Rongwei; Ren, Aiguo

    2015-04-01

    Methylenetetrahydrofolate reductase (MTHFR) C677T and catechol-O-Methyltransferase (COMT) G158A are associated with a risk of neural tube defects (NTDs) in offspring. This study examined the effect of a MTHFR × COMT interaction on the risk of NTDs in a Chinese population with a high prevalence of NTDs. A total of 576 fetuses or newborns with NTDs and 594 controls were genotyped for MTHFRrs1801133, MTHFRrs1801131, and COMTrs4680 and COMTrs737865. Information on maternal sociodemographic characteristics, reproductive history, and related behavior was collected through face-to-face interviews. Possible interactions between genetic variants of MTHFR and COMT were examined. MTHFR C677T homozygous TT was associated with an elevated risk of total NTDs (odds ratio [OR] = 1.37, 95 % confidence interval [CI] = 0.93-2.03) and of anencephaly (OR = 1.67, 95 % CI = 0.98-2.84) compared with the CC genotype. There was a COMT rs737865 CC × MTHFR rs1801133 TT interaction for total NTDs (OR = 3.02, 95 % CI = 1.00-9.14) and for anencephaly (OR = 3.39, 95 % CI = 0.94-12.18). No interaction was found between COMT rs4680 AA/AG and MTHFR CT/TT genotypes for total NTDs or any subtype of NTD. The interaction of COMT rs737865 and MTHFR C677T was associated with an increased risk of NTDs, especially anencephaly, in a Chinese population with a high prevalence of NTDs. PMID:24990354

  2. 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.

  3. Edad materna y defectos del tubo neural: evidencia para un efecto mayor en espina bífida que anencefalia Influence of maternal age on the risk for neural tube defects, a meta analysis

    OpenAIRE

    Vieira, Alexandre R.; Silvia Castillo Taucher

    2005-01-01

    Background: Recent evidence from birth order data suggest that maternal factors can differently influence anencephaly and spina bifida. Aim: To study the influence of maternal age on the risk for neural tube defects. Material and methods: A meta-analysis of published data on neural tube defects (NTDs) was carried out to determine whether there is an increased risk to have a child with NTDs for younger and older mothers and if this risk differs depending on the type of NTD. All data available ...

  4. Rare case of congenital anomaly in two different gestational ages: a case series

    Directory of Open Access Journals (Sweden)

    Lopamudra B. John

    2013-04-01

    Full Text Available Acrania is a rare congenital anomaly involving faulty development of membranous flat bones of neurocalvarium. Commonest differential diagnosis is anencephaly. The first case was diagnosed in a second gravida at 13 weeks and terminated by vaginal misoprostol instillation. The second case was diagnosed only by scan at 32 weeks in an unbooked second gravida with previous LSCS. She underwent emergency LSCS for failed induction and a fresh stillborn baby of 1.9 kg was born. [Int J Reprod Contracept Obstet Gynecol 2013; 2(2.000: 240-241

  5. Prevalence and prenatal diagnosis of neural tube defects in Nova Scotia in 1980-84.

    OpenAIRE

    Winsor, E J; Brown, B. S.

    1986-01-01

    A survey of the records of all hospitals with obstetric services in Nova Scotia revealed that during 1980-84 there were 122 pregnancies involving a neural tube defect. The mean rate was 2/1000 births. Of the affected fetuses or infants 54% had spina bifida, 35% had anencephaly and 11% had encephalocele. The records showed that in the early part of the period studied at least one prenatal ultrasonographic examination had been performed in 60% of the pregnancies; in 1984 the rate was 74%. When ...

  6. Second-trimester diagnosis of osteogenesis imperfecta associated with schizencephaly by sonography

    International Nuclear Information System (INIS)

    Osteogenesis imperfecta is congenital connective tissue disorder characterized with multiple bone fractures, short limbs, membranous calvarium with wormian bones and sometimes blue sclerae. Osteogenesis is rarely accompanied by other major malformations. Although associations with microcephaly congenital heart defects or anencephaly have been reported previously, association with schizencephaly was not found on literature review. We report a case of osteogenesis imperfecta associated with schizencephaly diagnosed at 21 weeks of gestation using 2-dimensional ultrasound. The present case shows that prenatal ultrasonographic examination is a very important tool to detect such intrauterine abnormalities in which, management of pregnancy would be changed significantly compared to normal pregnancies. (author)

  7. 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.

  8. Neural Tube Defect Spectrum - Study of Craniorachischisis

    Directory of Open Access Journals (Sweden)

    Rashmi Deopujari,

    2011-01-01

    Full Text Available Neural tube defect spectrum (NTD includes anencephaly, spina bifida, craniorachischisis, inencephaly etc. Four cases of craniorachischisis were studied from a collection of 34 aborted fetuses. There was deficiency of scalp and cranial vault in all the four cases. In one case the defect was extending up to the cervical region, in rest of the three cases, vertebral column defect extended upto thoracic region exposing the spinal cord and spinal nerves. All the cases presented with bulging eyes, broad nose, folded ears, protruded tongue and absent neck. These defects result due to failure of closure of the neural tube during early embryonic life.

  9. Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.

    OpenAIRE

    Brandt, C A; Hertz, J M; Petersen, M B; Vogel, F.; Noer, H; Mikkelsen, M

    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 ca...

  10. Neural tube defects

    OpenAIRE

    M.E. Marshall

    1981-01-01

    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 bee...

  11. Estatuto ontológico y ético del feto anencefálico: Una perspectiva filosófica Ontological and ethical statute of anencephalic fetus

    Directory of Open Access Journals (Sweden)

    Mauricio Besio R

    2008-06-01

    Full Text Available Due to advances in prenatal techniques, it is now possible to diagnose malformations in útero, such as anencephaly, which in the past was only known at birth. Having knowledge of a malformation before birth, the moment in which almost every individual obtains social and legal protection, puts the malformed fetus in a vulnerable situation toward possible actions that lead to the interruption of pregnancy. The aim of this article is to analyze different positions about the quality and reality of the anencephalic fetus, its human condition and the care that the fetus and mother deserve

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

    OpenAIRE

    Sanjaykumar; Rajashree; Manisha,

    2014-01-01

    : 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 ...

  13. 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

  14. 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

  15. 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

  16. Prevalencia al nacimiento de malformaciones congénitas en las maternidades chilenas participantes en el ECLAMC en el período 2001-2010

    Directory of Open Access Journals (Sweden)

    Julio Nazer H

    2014-09-01

    Full Text Available Background: The Latin American Collaborative Study of Congenital Malformations (ECLAMC is an epidemiological surveillance system operating in 11 South American countries since 1969. Aim: To analyze the Congenital Malformation prevalence rate at birth from 2001 to 2010 in Chilean Hospitals participating in ECLAMC. To compare these rates with those of the period 1982-1994. Material and Methods: Review of the ECLAMC database, which contains information about 282.568 newborns, 2.110 of them stillbirths (0.75% from 13 Maternity hospitals. Results: In the study period, 10.925 newborns had congenital malformations (3.9 %. Their frequency was lower in live newborns than stillbirths (3.8 and 15.3%, respectively. Compared with the 1982-1994 period, congenital malformation prevalence rates at birth were higher. They stabilized in approximately 4 %, from 1985 to 2010. The prevalence of some anomalies such as Down syndrome increased significantly. On the other hand, there was a reduction in the prevalence of spina bifida and anencephaly. Conclusions: Prevalence rates of congenital malformations at birth remained stable in the last 18 years in Chilean Hospitals participating in ECLAMC. However the prevalence of some malformations such as Down syndrome, Polydactyly, anotia-microtia, syndactyly and cleft palate have increased. The prevalence rates of spina bifida and anencephaly have decreased.

  17. The role of organ transplantation from anencephalic neonates: A case report

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    Mehmet Yekta Öncel

    2013-06-01

    Full Text Available Currently, a large number of patients are waiting for organ transplantation and newborns with anencephaly are thought to be potential candidates for organ transplantation. A male baby was born to a 30-year-old mother after 38 weeks of gestation with a birth weight of 2430 g. Antenatal ultrasonography performed during the last months of the pregnancy revealed the presence of anencephaly. The parents were asked for organ donation from the infant and informed consent was obtained. The infant died at the 24th hours of his life. Therefore the diagnosis of the brain death which required two clinical examinations and two electroencephalographic examinations with an interval of 48 hours could not be achieved. It is not a practical approach in such cases to make a diagnosis of brain death with electroencephalography. Therefore, new approaches should be developed for anencephalic newborns. Ethical and legal issues on this subject are still controversial. Here we present the challenges posed by this case and also discuss the difficulty involved in choosing anencephalic neonates as candidate organ donors. (Turk Arch Ped 2013; 48: 165-8

  18. Edad materna y defectos del tubo neural: evidencia para un efecto mayor en espina bífida que anencefalia Influence of maternal age on the risk for neural tube defects, a meta analysis

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    Alexandre R. Vieira

    2005-01-01

    Full Text Available Background: Recent evidence from birth order data suggest that maternal factors can differently influence anencephaly and spina bifida. Aim: To study the influence of maternal age on the risk for neural tube defects. Material and methods: A meta-analysis of published data on neural tube defects (NTDs was carried out to determine whether there is an increased risk to have a child with NTDs for younger and older mothers and if this risk differs depending on the type of NTD. All data available with information regarding the frequency of live births and NTDs cases by maternal age (five- or ten-year intervals were included in the analysis. Effect sizes calculations were performed. Results: The analysis supports the hypothesis that there is an increased risk of having an offspring with NTDs for mothers 40 years of age or older. However, this effect is stronger for spina bifida than for anencephaly. There is also evidence that mothers 19 years old or younger have a higher risk for having a child with spina bifida. Conclusions: Maternal age influences the risk of having an offspring with neural tube defects (Rev Méd Chile 2005; 133: 62-70

  19. Coupling of fully automated chip-based electrospray ionization to high-capacity ion trap mass spectrometer for ganglioside analysis.

    Science.gov (United States)

    Almeida, Reinaldo; Mosoarca, Cristina; Chirita, Marius; Udrescu, Valentina; Dinca, Nicolae; Vukelić, Zeljka; Allen, Mark; Zamfir, Alina D

    2008-07-01

    NanoMate robot was coupled to a high-capacity ion trap (HCT) mass spectrometer to create a system merging automatic chip-based electrospray ionization (ESI) infusion, ultrafast ion detection, and multistage sequencing at superior sensitivity. The interface between the NanoMate and HCT mass spectrometer consists of an in-laboratory constructed mounting device that allows adjustment of the robot position with respect to the mass spectrometer inlet. The coupling was optimized for ganglioside (GG) high-throughput analysis in the negative ion mode and was implemented in clinical glycolipidomics for identification and structural characterization of anencephaly-associated species. By NanoMate HCT mass spectrometry (MS), data corroborating significant differences in GG expression in anencephalic versus age-matched normal brain tissue were collected. The feasibility of chip-based nanoESI HCT multistage collision-induced dissociation (CID MS(n)) for polysialylated GG fragmentation and isomer discrimination was tested on a GT1 (d18:1/18:0) anencephaly-associated structure. MS(2)-MS(4) obtained by accumulating scans at variable fragmentation amplitudes gave rise to the first fragmentation patterns from which the presence of GT1b structural isomer could be determined unequivocally without the need for supplementary investigation by any other analytical or biochemical methods. PMID:18406832

  20. Epidemiology of neural tube defects in the world and Iran

    International Nuclear Information System (INIS)

    Statistical data from 1996 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 American, 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 pre valences, respectively. In Africa, Nigeria with 3.5, and in Oceania, New zealand with 7.8 in 10000, were reported. Data available on spin a 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 Rein-Alp with 0.55 in 10000 had the highest and the lowest pre valences. Finally, in China this rate was 36, in Australia 10, in New zealand 9.4, and in Nigeria 7/10000. In a study carried out in Tehran, from 1969 till 1978 by the authors, out of 13037 birth, (17.6 in 10000) newborns had neural tube defects, with anencephaly 0.8 and spin a bifida 3.8/10000. In a new study on 8585 deliveries (1991-1997) in Hamadan (a north west Providence of Iran), Pre valences of total Nds was 50.1/10000, anencephaly 15.6 and spinabifida 6.98

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

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    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.

  2. 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

  3. Neural tube defects

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    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.

  4. Urgent global opportunities to prevent birth defects.

    Science.gov (United States)

    Kancherla, Vijaya; Oakley, Godfrey P; Brent, Robert L

    2014-06-01

    Birth defects are an urgent global health priority. They affect millions of births worldwide. But their prevalence and impact are largely under-ascertained, particularly in middle- and low-income countries. Fortunately, a large proportion of birth defects can be prevented. This review examines the global prevalence and primary prevention methods for major preventable birth defects: congenital rubella syndrome, folic acid-preventable spina bifida and anencephaly, fetal alcohol syndrome, Down syndrome, rhesus hemolytic disease of the fetus and the newborn; and those associated with maternal diabetes, and maternal exposure to valproic acid or iodine deficiency during pregnancy. Challenges to prevention efforts are reviewed. The aim of this review is to bring to the forefront the urgency of birth defects prevention, surveillance, and prenatal screening and counseling; and to help public health practitioners develop population-based birth defects surveillance and prevention programs, and policy-makers to develop and implement science-based public health policies. PMID:24333206

  5. Iniencephaly clausus: A case report with review of literature

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    Padmaja R Kulkarni

    2011-01-01

    Full Text Available Iniencephaly is a rare neural tube defect characterized by extreme retroflexion of the head with the absence of neck due to spinal deformities. The important features that help us to diagnose a case of iniencephaly are occipital bone deficit leading to enlarged foramen magnum, fusion of malformed cervical and thoracic vertebrae, and upward turned face with chin continuous with chest because of the absence of neck. The differential diagnoses include anencephaly with spinal retroflexion, Klippel-Fiel syndrome, nuchal tumors such as teratoma, goiter, and lymphangioma and Jarcho-Levin syndrome. Previously many case reports on radiological features of iniencephaly are published, but there are very few articles on necropsy findings and differential diagnosis. In the present case we have discussed in detail the necropsy findings of iniencephaly clausus with special reference to differential diagnosis.

  6. Methylenetetrahydrofolate reductase mutations, a genetic cause for familial recurrent neural tube defects

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    Laxmi V Yaliwal

    2012-01-01

    Full Text Available Methylenetetrahydrofolate reductase (MTHFR gene mutations have been implicated as risk factors for neural tube defects (NTDs. The best-characterized MTHFR genetic mutation 677C→T is associated with a 2-4 fold increased risk of NTD if patient is homozygous for this mutation. This risk factor is modulated by folate levels in the body. A second mutation in the MTHFR gene is an A→C transition at position 1298. The 1298A→C mutation is also a risk factor for NTD, but with a smaller relative risk than 677C→T mutation. Under conditions of low folate intake or high folate requirements, such as pregnancy, this mutation could become of clinical importance. We present a case report with MTHFR genetic mutation, who presented with recurrent familial pregnancy losses due to anencephaly/NTDs.

  7. Novel Mode of Defective Neural Tube Closure in the Non-Obese Diabetic (NOD) Mouse Strain.

    Science.gov (United States)

    Salbaum, J Michael; Kruger, Claudia; MacGowan, Jacalyn; Herion, Nils J; Burk, David; Kappen, Claudia

    2015-01-01

    Failure to close the neural tube results in birth defects, with severity ranging from spina bifida to lethal anencephaly. Few genetic risk factors for neural tube defects are known in humans, highlighting the critical role of environmental risk factors, such as maternal diabetes. Yet, it is not well understood how altered maternal metabolism interferes with embryonic development, and with neurulation in particular. We present evidence from two independent mouse models of diabetic pregnancy that identifies impaired migration of nascent mesodermal cells in the primitive streak as the morphogenetic basis underlying the pathogenesis of neural tube defects. We conclude that perturbed gastrulation not only explains the neurulation defects, but also provides a unifying etiology for the broad spectrum of congenital malformations in diabetic pregnancies. PMID:26593875

  8. Ethical language and decision-making for prenatally diagnosed lethal malformations.

    Science.gov (United States)

    Wilkinson, Dominic; de Crespigny, Lachlan; Xafis, Vicki

    2014-10-01

    In clinical practice, and in the medical literature, severe congenital malformations such as trisomy 18, anencephaly, and renal agenesis are frequently referred to as 'lethal' or as 'incompatible with life'. However, there is no agreement about a definition of lethal malformations, nor which conditions should be included in this category. Review of outcomes for malformations commonly designated 'lethal' reveals that prolonged survival is possible, even if rare. This article analyses the concept of lethal malformations and compares it to the problematic concept of 'futility'. We recommend avoiding the term 'lethal' and suggest that counseling should focus on salient prognostic features instead. For conditions with a high chance of early death or profound impairment in survivors despite treatment, perinatal and neonatal palliative care would be ethical. However, active obstetric and neonatal management, if desired, may also sometimes be appropriate. PMID:25200733

  9. 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

  10. The relationship of ceruloplasmin and neural tube defects

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    Çağlar Yazıcıoğlu

    2010-06-01

    Full Text Available Objective: To compare the levels of ceruloplasmin (cp in the amniotic fluids and maternal bloods of second trimester fetuses with and without neural tube defects (NTD.Materials and Methods: 66 pregnant women were included in the study. Amniocentesis was performed in 32 women in a patient group diagnosed as NTD or anencephaly and 34 pregnants in a control group with positive Down Syndrome screening test. Maternal bloods were also taken. Cp was measured with Erel’s ceruloplasmin measurement method.Results: The cp levels of the amniotic fluid of patients and controls were not statistically different (p>0.05. The cp levels of the maternal bloods were not different in two groups (p>0.05.Conclusion: As an antioxidant, no relation was found between cp and NTD.

  11. Sinoftalmía: Presentación de un caso Presentation of a synophthalmia case

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    José Israel López

    2006-04-01

    Full Text Available Se realiza la presentación de un caso de anencefalia asociado a cíclope que ocurrió en la misión realizada recientemente en el hermano pueblo de Haití, y en la que se obtuvo un feto muerto de 1 850 g con fusión de los 2 ojos y esbozo de nariz en forma de trompa, achatada. Se hace la discusión y revisión de la literatura al respecto.A case of a cyclope-associated anencephaly was presented in this paper, which occurred in Haiti during the recent medical assistance mission performed by the Cuban medical staff. It was about a dead one-eyed fetus weighing 1850 g , with a sort of snout nose. A literature review was made and discussed.

  12. 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

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    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

  13. Radioimmunoassay of alpha-foeto protein in the amniotic fluid in normal and pathological pregnancies

    International Nuclear Information System (INIS)

    A radioimmunoassay of AFP was developed and the normal amniotic concentrations of this protein were measured as a function of the gestation age. The specific reagents used included a rabbit anti-AFP serum and a highly purified preparation of AFP labelled with 125I, which also served as a standard. Amniotic fluid was drawn off by amniocentesis between the 11th and 40th week following the last menstrual period. Samples of amniotic fluid were also obtained in 2 cases of foetal death in utero and 3 cases of anencephaly. The normal amniotic AFP concentration limits were particularly well established between the 14th and 18th weeks, an ideal period to perform an amniocentesis both from a technical viewpoint and with regard to the bulk of information obtainable for the antenatal diagnosis of many congenital diseases. The concentrations observed in pathological cases were distinctly higher than the upper 95% confidence limit of normal values for the gestation age considered

  14. 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

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

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    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.

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

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    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.

  17. Risk factors, organ weight deviation and associated anomalies in neural tube defects: A prospective fetal and perinatal autopsy series

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    Asaranti Kar

    2015-01-01

    Full Text Available Introduction: Neural tube defects (NTD are a group of serious birth defects occurring due to defective closure of neural tube during embryonic development. It comprises of anencephaly, encephalocele and spina bifida. We conducted this prospective fetal autopsy series to study the rate and distribution of NTD, analyze the reproductive factors and risk factors, note any associated anomalies and evaluate the organ weights and their deviation from normal. Materials and Methods: This was a prospective study done over a period of 6 years from August, 2007 to July, 2013. All cases of NTDs delivered as abortion, still born and live born were included. The reproductive and risk factors like age, parity, multiple births, previous miscarriage, obesity, diabetes mellitus, socioeconomic status and use of folic acid during pregnancy were collected.Autopsy was performed according to Virchow′s technique. Detail external and internal examination were carried out to detect any associated anomalies. Gross and microscopic examination of organs were done. Results: Out of 210 cases of fetal and perinatal autopsy done, 72 (34.28% had NTD constituting 49 cases of anencephaly, 16 spina bifida and 7 cases of encephalocele. The mothers in these cases predominantly were within 25-29 years (P = 0.02 and primy (P = 0.01. Female sex was more commonly affected than males (M:F = 25:47, P = 0.0005 There was no history of folate use in majority of cases. Organ weight deviations were >2 standard deviation low in most of the cases. Most common associated anomalies were adrenal hypoplasia and thymic hyperplasia. Conclusion: The authors have made an attempt to study NTD cases in respect to maternal reproductive and risk factors and their association with NTD along with the organ weight deviation and associated anomalies. This so far in our knowledge is an innovative study which was not found in literature even after extensive search.

  18. Resultados del Programa de Prevención de Defectos de Tubo Neural en Chile mediante la fortificación de la harina con ácido fólico: Período 2001-2010

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    Julio Nazer H

    2013-06-01

    Full Text Available Background: Congenital malformations (CMF have an important role in infant mortality. Neural tube defects (NTD have great relevance from both social and public health points of view. The ECLAMC (Collaborative Latin American Study of Congenital Malformations maintains in Chile an epidemiological surveillance of CMF prevalence rate at birth since 1969. Aim: To assess the effect of wheat flour folic acid fortification on the prevalence of NTD. Patients and Methods: Only Anencephaly, Spina bifida and Cephalocele were considered as NTD. All children born in the maternities incorporated to ECLAMC between 1969 and 1999 were considered as belonging to the pre folic acid fortification period and those who were born from 2001 to 2010 were considered as belonging to the post fortification period. Results: The NTD prevalence rate at birth in the pre fortification period was 17.03/10,000. In the second period, there were 291,996 births and among them, 280 newborns were affected by a form of NTD (9.59 in 10,000 births. This represents a 44% decrease (p < 0.01. Anencephaly rate fell from 7.16/10,000 to 3.67/10,000, representing a 49% lower rate (p < 0.01. Spina bifida rate decreased from 8.61/10,000 to 4.49/10,000, representing a 48% lower rate (p < 0.01. Cephalocele had a 20% non-significant reduction. Conclusions: Wheat flour fortification with folic acid reduced by 44% the prevalence rate of NTD at birth. This means that NTDs were prevented in 185 Chilean newborns each year.

  19. Prevention of neural tube defects with folic acid: The Chinese experience.

    Science.gov (United States)

    Ren, Ai-Guo

    2015-08-01

    Neural tube defects (NTDs) are a group of congenital malformations of the central nervous system that are caused by the closure failure of the embryonic neural tube by the 28(th) day of conception. Anencephaly and spina bifida are the two major subtypes. Fetuses with anencephaly are often stillborn or electively aborted due to prenatal diagnosis, or they die shortly after birth. Most infants with spina bifida are live-born and, with proper surgical treatment, can survive into adulthood. However, these children often have life-long physical disabilities. China has one of the highest prevalence of NTDs in the world. Inadequate dietary folate intake is believed to be the main cause of the cluster. Unlike many other countries that use staple fortification with folic acid as the public health strategy to prevent NTDs, the Chinese government provides all women who have a rural household registration and who plan to become pregnant with folic acid supplements, free of charge, through a nation-wide program started in 2009. Two to three years after the initiation of the program, the folic acid supplementation rate increased to 85% in the areas of the highest NTD prevalence. The mean plasma folate level of women during early and mid-pregnancy doubled the level before the program was introduced. However, most women began taking folic acid supplements when they knew that they were pregnant. This is too late for the protection of the embryonic neural tube. In a post-program survey of the women who reported folic acid supplementation, less than a quarter of the women began taking supplements prior to pregnancy, indicating that the remaining three quarters of the fetuses remained unprotected during the time of neural tube formation. Therefore, staple food fortification with folic acid should be considered as a priority in the prevention of NTDs. PMID:26261765

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

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    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

  1. 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.

  2. Etiology, pathogenesis and prevention of neural tube defects.

    Science.gov (United States)

    Padmanabhan, Rengasamy

    2006-06-01

    Spina bifida, anencephaly, and encephalocele are commonly grouped together and termed neural tube defects (NTD). Failure of closure of the neural tube during development results in anencephaly or spina bifida aperta but encephaloceles are possibly post-closure defects. NTD are associated with a number of other central nervous system (CNS) and non-neural malformations. Racial, geographic and seasonal variations seem to affect their incidence. Etiology of NTD is unknown. Most of the non-syndromic NTD are of multifactorial origin. Recent in vitro and in vivo studies have highlighted the molecular mechanisms of neurulation in vertebrates but the morphologic development of human neural tube is poorly understood. A multisite closure theory, extrapolated directly from mouse experiments highlighted the clinical relevance of closure mechanisms to human NTD. Animal models, such as circle tail, curly tail, loop tail, shrm and numerous knockouts provide some insight into the mechanisms of NTD. Also available in the literature are a plethora of chemically induced preclosure and a few post-closure models of NTD, which highlight the fact that CNS malformations are of hetergeneitic nature. No Mendelian pattern of inheritance has been reported. Association with single gene defects, enhanced recurrence risk among siblings, and a higher frequency in twins than in singletons indicate the presence of a strong genetic contribution to the etiology of NTD. Non-availability of families with a significant number of NTD cases makes research into genetic causation of NTD difficult. Case reports and epidemiologic studies have implicated a number of chemicals, widely differing therapeutic drugs, environmental contaminants, pollutants, infectious agents, and solvents. Maternal hyperthermia, use of valproate by epileptic women during pregnancy, deficiency and excess of certain nutrients and chronic maternal diseases (e.g. diabetes mellitus) are reported to cause a manifold increase in the

  3. 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

  4. 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)

  5. 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

  6. 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.

  7. 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)

  8. 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

  9. 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.

  10. 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

  11. 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。

  12. 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.

  13. 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.

  14. 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.

  15. 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

  16. Temporal characteristics related to leave from work and pregnancy among mothers with congenitally malformed offspring

    Energy Technology Data Exchange (ETDEWEB)

    Nurminen, M.; Holmberg, P.C.

    1981-01-01

    The possible impact of occupational factors on the furtherance of congenital defects have been under study at our department for the past 4 years. The topic has assumed a special interest because of the importance of the issue involved, namely the search for a possibility to prevent teratogenesis, and partly because the applicable methods are different from those of customary epidemiology. In connection with a register-based, case-referent study utilizing supplementary information, acquired via questioning, of conditions at the mothers' work places, we analysed various time-related events in their pregnancy. We found that the groups compared differed from each other with regard to the correct timing of the birth, despite the fact that the distribution of the times of stopping work for various reasons were alike. Among mothers who were granted sick leave from work the diagnosis of anencephaly became less common close to the estimated date of delivery, and conversely for the diagnosis of hydrocephaly. The findings of the present study may suggest that the time of assignment for a statutory maternity leave be considered. Methodological issues in study design are also briefly discussed.

  17. Metabonomic profiling of human placentas reveals different metabolic patterns among subtypes of neural tube defects.

    Science.gov (United States)

    Chi, Yi; Pei, Lijun; Chen, Gong; Song, Xinming; Zhao, Aihua; Chen, Tianlu; Su, Mingming; Zhang, Yinan; Liu, Jianmeng; Ren, Aiguo; Zheng, Xiaoying; Xie, Guoxiang; Jia, Wei

    2014-02-01

    Neural tube defects (NTDs) are one of the most common types of birth defects with a complex etiology. We have previously profiled serum metabolites of pregnant women in Lvliang prefecture, Shanxi Province of China, which revealed distinct metabolic changes in pregnant women with NTDs outcome. Here we present a metabonomics study of human placentas of 144 pregnant women with normal pregnancy outcome and 115 pregnant women affected with NTDs recruited from four rural counties (Pingding, Xiyang, Taigu, and Zezhou) of Shanxi Province, the area with the highest prevalence worldwide. A panel of 19 metabolites related to one-carbon metabolism was also quantitatively determined. We observed obvious differences in global metabolic profiles and one-carbon metabolism among three subtypes of NTDs, anencephaly (Ane), spina bifida (SB), and Ane complicated with SB (Ane & SB) via mass-spectrometry-based metabonomics approach. Disturbed carbohydrate, amino acid, lipid, and nucleic acid metabolism were identified. Placental transport of amino acids might be depressed in Ane and Ane & SB group. Deficiency of choline contributes to Ane and Ane & SB pathogenesis via different metabolic pathways. The formation of NTDs seemed to be weakly related to folates. The metabonomic analysis reveals that the physiological and biochemical processes of the three subtypes of NTDs might be different and the subtype condition should be considered for the future investigation of NTDs. PMID:24397701

  18. Pattern of Congenital Anomalies in Newborn :A Hospital Based Prospective Study

    Directory of Open Access Journals (Sweden)

    Arjun Singh, Ravinder K Gupta

    2009-01-01

    Full Text Available This hospital based prospective descriptive study highlights the point prevlance of congenital anomalies inone year. The number of congenital anomalies were more in males (M: F = 1.6:1.4, in neonates of young(= 20 years and elderly mothers (= 35 years. The pattern of congenital anomalies included musculoskeletal(30.6%, CNS (20.5%, GIT (18.5%, skin (7.6%, genitourinary (4.7%, CVS (4% etc. In musculoskeletalgroup, telipes was most common malformation followed by spinabifida and polydactyly. In CNS, groupmeningomyeleceole was the most common malformation followed by anencephaly and hydrocephalus.Frequency of congenital anomalies were more common in muslims as compared to hindus (1.77% vs.1.4%, in cesarean born babies as compared to vaginally delivered (1.96% vs. 1.48%, in LBW babies(4.95% and still born as compared to live born babies (4.46% vs. 1.39%. Present study stress upon theimportance to carrying out a thorough clinical examination of neonate at birth

  19. 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.

  20. An association study between SUFU gene polymorphisms and neural tube defects.

    Science.gov (United States)

    Lu, Xiaolin; Wang, Zhen; Wang, Jianhua; Shangguan, Shaofang; Bao, Yihua; Lu, Ping; Wang, Li

    2014-06-01

    Neural tube defects (NTDs) in mammals are rooted in aberrant neural tube closure during early embryogenesis, which is caused by multiple environmental and genetic factors. The Sonic Hedgehog pathway is involved in the induction of the floor plate and participates in formation of the neural tube. Mutation of the suppressor of fused gene (SUFU), an essential repressor of Sonic Hedgehog signaling pathway, can result in NTDs. A case-control study was designed to compare the frequencies of the polymorphism at four sites in the SUFU gene in control and NTDs group, as well as in subtype groups, including anencephaly, spina bifida and encephalocele. We also explored the association between polymorphism and NTDs risk in a high prevalence population in China. Rs10786691, but not the other three SNPs, had an association between polymorphisms and NTDs. The heterozygous AG allele of rs10786691 was significantly related with NTDs and encephalocele (OR = 1.60, 95% CI: 1.04-2.48, p = 0.034; OR = 2.83, 95% CI: 1.07-7.47, p = 0.036). In female but not male fetuses, the AG genotype of rs10786691 increased the risk of NTDs (OR = 1.88, 95% CI: 1.03-3.41, p = 0.040). The SUFU rs10786691 A>G polymorphism may be a potential risk factor for NTDs and encephalocele in this high-risk population, but the association between the polymorphism and NTDs was probably influenced by gender. PMID:24070372

  1. Isolation of Human Neural Stem Cells from the Amniotic Fluid with Diagnosed Neural Tube Defects.

    Science.gov (United States)

    Chang, Yu-Jen; Su, Hong-Lin; Hsu, Lee-Feng; Huang, Po-Jui; Wang, Tzu-Hao; Cheng, Fu-Chou; Hsu, Li-Wen; Tsai, Ming-Song; Chen, Chih-Ping; Chang, Yao-Lung; Chao, An-Shine; Hwang, Shiaw-Min

    2015-08-01

    Human neural stem cells (NSCs) are particularly valuable for the study of neurogenesis process and have a therapeutic potential in treating neurodegenerative disorders. However, current progress in the use of human NSCs is limited due to the available NSC sources and the complicated isolation and culture techniques. In this study, we describe an efficient method to isolate and propagate human NSCs from the amniotic fluid with diagnosed neural tube defects (NTDs), specifically, anencephaly. These amniotic fluid-derived NSCs (AF-NSCs) formed neurospheres and underwent long-term expansion in vitro. In addition, these cells showed normal karyotypes and telomerase activity and expressed NSC-specific markers, including Nestin, Sox2, Musashi-1, and the ATP-binding cassette G2 (ABCG2). AF-NSCs displayed typical morphological patterns and expressed specific markers that were consistent with neurons, astrocytes, oligodendrocytes, and dopaminergic neurons after proper induction conditions. Furthermore, grafted AF-NSCs improved the physiological functions in a rat stroke model. The ability to isolate and bank human NSCs from this novel source provides a unique opportunity for translational studies of neurological disorders. PMID:25923707

  2. Partial craniofacial duplication: a review of the literature and case report.

    Science.gov (United States)

    Costa, Melinda A; Borzabadi-Farahani, Ali; Lara-Sanchez, Pedro A; Schweitzer, Daniela; Jacobson, Lia; Clarke, Noreen; Hammoudeh, Jeffery; Urata, Mark M; Magee, William P

    2014-06-01

    Diprosopus (Greek; di-, "two" + prosopon, "face"), or craniofacial duplication, is a rare craniofacial anomaly referring to the complete duplication of facial structures. Partial craniofacial duplication describes a broad spectrum of congenital anomalies, including duplications of the oral cavity. This paper describes a 15 month-old female with a duplicated oral cavity, mandible, and maxilla. A Tessier type 7 cleft, midline meningocele, and duplicated hypophysis were also present. The preoperative evaluation, surgical approach, postoperative results, and a review of the literature are presented. The surgical approach was designed to preserve facial nerve innervation to the reconstructed cheek and mouth. The duplicated mandible and maxilla were excised and the remaining left maxilla was bone grafted. Soft tissue repair included closure of the Tessier type VII cleft. Craniofacial duplication remains a rare entity that is more common in females. The pathophysiology remains incompletely characterized, but is postulated to be due to duplication of the notochord, as well as duplication of mandibular growth centres. While diprosopus is a severe deformity often associated with anencephaly, patients with partial duplication typically benefit from surgical treatment. Managing craniofacial duplication requires a detailed preoperative evaluation as well as a comprehensive, staged treatment plan. Long-term follow up is needed appropriately to address ongoing craniofacial deformity. PMID:23969147

  3. Melatonin prevents neural tube defects in the offspring of diabetic pregnancy.

    Science.gov (United States)

    Liu, Shangming; Guo, Yuji; Yuan, Qiuhuan; Pan, Yan; Wang, Liyan; Liu, Qian; Wang, Fuwu; Wang, Jingjing; Hao, Aijun

    2015-11-01

    Melatonin, an endogenous neurohormone secreted by the pineal gland, has a variety of physiological functions and neuroprotective effects. However, its protective role on the neural tube defects (NTDs) was not very clear. The aim of this study was to investigate the effects of melatonin on the incidence of NTDs (including anencephaly, encephalocele, and spina bifida) of offspring from diabetic pregnant mice as well as its underlying mechanisms. Pregnant mice were given 10 mg/kg melatonin by daily i.p. injection from embryonic day (E) 0.5 until being killed on E11.5. Here, we showed that melatonin decreased the NTDs (especially exencephaly) rate of embryos exposed to maternal diabetes. Melatonin stimulated proliferation of neural stem cells (NSCs) under hyperglycemic condition through the extracellular regulated protein kinases (ERK) pathway. Furthermore, as a direct free radical scavenger, melatonin decreased apoptosis of NSCs exposed to hyperglycemia. In the light of these findings, it suggests that melatonin supplementation may play an important role in the prevention of neural malformations in diabetic pregnancy. PMID:26475080

  4. Prevalence of Perinatal Central Nervous System Anomalies in East Azarbaijan-Iran

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    M. Ghavami

    2011-06-01

    Full Text Available Background/Objective: Central nervous system (CNS anomalies are the most serious congenital abnormalities. Ultrasound examination is an effective and noninvasive modality for prenatal diagnosis of these anomalies. The purpose of the current study was to determine thefrequency of CNS and associated abnormalities.Patients and Methods: A total of 22500 pregnant women who were referred by obstetricians/ gynecologists for routine work up of pregnancy were scanned over a period of 3 years by two expert sonologists in a referral center using high resolution ultrasound unit.Results: After transabdominal sonographic examination of 22500 pregnant women, 112 (0.5%fetuses were detected with CNS anomalies, some of whom had more than one anomaly. Forty-one (37% Chiari malformations, 26 (23% monro and aqueductal stenosis cases, 18 (16% anencephaly cases, nine (8% encephaloceles, seven (6% microcephalies, five (4% Dandywalker syndromes,two (2% arachnoid cysts, two (2% agenesis of corpus callosum cases, one (1% holoprosencephaly and one (1% schizencephaly were reported in our study.Conclusion: According to our results, Chiari malformation and ydrocephalus were the most prevalent anomalies of CNS congenital abnormalities in East Azarbaijan, Iran. An accurate diagnosis depends upon fetal age, amniotic fluid volume, fetal position, operator experience and careful evaluation of the associated malformations, which are often present.

  5. Malformaciones congénitas en Chile y Latino América: Una visión epidemiológica del ECLAMC del período 1995-2008 Congenital malformations in Latin America in the period 1995-2008

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    JULIO NAZER H

    2011-01-01

    Full Text Available Background: The Latin American Study of Congenital Malformations (ECLAMC hasperformed an epidemiológica! surveillance of congenital malformations since 1967. This allows to detectany unexpected change in the incidence of malformations, possibly caused by a new environmental teratogenic agent. Aim: To report a summary ofthe results thusfar obtained in this study. Material ana Methods: The ECLAMC datábase was analyzed and all Uve births and stillbirths ofmore than 500 grams in the period 1995-2008, were analyzed. Results: There were 2,409,407 births in the nine participant countries. Ofthese 31,516 (1.3% were stillbirths. The global rate of congenital malformations in this sample was 2.7%. In the studied period, there was a significant reduction in the rates of anencephaly and spina bifida in Chile and Argentina. In the rest ofthe countries, the global rates of malformations increased. Venezuela had the higher rate of teenage pregnancies (25%, followed by Colombia (23%. Chile had the higherpercentage ofwomen aged 35years or moregiving birth (14%, followed by Uruguay (13%. However, Chile had the higher rate of Down syndrome and Uruguay, the lowest (24.7 and 13.6per 10000. Conclusions: There is a tendency towards an increase in the rates of congenital malformations in this sample, with significant differences among countries.

  6. 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.

  7. 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. genesis 54:3-18, 2016. © 2016 Wiley Periodicals, Inc. PMID:26528772

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

    International Nuclear Information System (INIS)

    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. (orig./MG)

  9. [Proteomic Analyses of Purified Particles of the Rabies Virus].

    Science.gov (United States)

    Tu, Zhongzhong; Gong, Wenjie; Zhang, Yan; Feng, Ye; Li, Nan; Tu, Changchun

    2015-05-01

    The rabies virus (RABV) is an enveloped RNA virus. It mainly damages the central nervous system and causes anencephaly in mammals and humans. There is now compelling evidence that enveloped virions released from infected cells can carry many host proteins, some of which may play an important part in viral replication. Several host proteins have been reported to be incorporated into RABV particles. However, a systematic study to reveal the proteomics of RABV particles has not been conducted. In the present study, after virus culture and purification by sucrose density gradient ultracentrifugation, a proteomics approach was used to analyze the protein composition of purified RABV particles to understand the molecular mechanisms of virus-cell interactions. Fifty host proteins, along with five virus-encoded structural proteins, were identified in purified RABV particles. These proteins could be classified into ten categories according to function: intracellular trafficking (14%), molecular chaperone (12%), cytoskeletal (24%), signal transduction (8%), transcription regulation (12%), calcium ion-binding (6%), enzyme binding (6%), metabolic process (2%), ubiquitin (2%) and other (14%). Of these, four proteins (beta-actin, p-tubulin, Cofilin, Hsc70) were validated by western blotting to be present in purified RABV particles. This novel study of the composition of host proteins in RABV particles may aid investigation of the mechanism of RABV replication. PMID:26470524

  10. Teratogenic effect of Carbamazepine use during pregnancy in the mice.

    Science.gov (United States)

    Elshama, Said Said; Osman, Hosam Eldin Hussein; El-Kenawy, Ayman El-Meghawry

    2015-01-01

    Carbamazepine use is the first choice of antiepileptic drugs among epileptic pregnant females. There are many inconclusive studies regard the safety of carbamazepine use during pregnancy. This study aims to investigate the morphological and histopathological teratogenic effects of carbamazepine use during pregnancy. The healthy pregnant females mice divided into equal five groups (each n=20). The first (control) group received distilled water/day. Second, third, fourth and fifth group received 8.75, 22.75, 52.5, 65 mg of carbamazepine/day respectively. Carbamazepine and water were given by gastric gavage throughout gestational period. Fetuses were delivered on the 18th day of gestation by hysterectomy. Fetal measurements and appearance were assessed with investigation the histopathological changes of brain and spinal cord. There was a significant decrease of weight, different organs weight, length, upper and lower limb length of mice in the first day of delivery in fifth group. There was a significant increase of weight, different organs weight, length, upper and lower limb length in the third group. Many congenital anomalies such as spina bifida, meromelia, microphalmia, oligodactyly, anencephaly, neurodegeneration of brain and spinal cord were noticedin fifth group. Teratogenic effect of carbamazepine represented as growth retardation and neurodevelopmental toxicity depending on its overdose degree. PMID:25553681

  11. 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.

  12. Incidencia de labio leporino y paladar hendido en la Maternidad del Hospital Clínico de la Universidad de Chile y en las maternidades chilenas participantes en el Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC período 1991-1999 Incidence of orofacial cleft in the University of Chile Maternity Hospital and other hospitals participating in the Latin American Collaborative Study of Congenital Malformations (ECLAMC

    Directory of Open Access Journals (Sweden)

    Julio Nazer H

    2001-03-01

    Full Text Available Background: ECLAMC is a registry, aimed to assess the incidence of congenital malformations, that started in 1967 and Chile incorporated to it in 1969. Aim: To report the incidence of cleft lip/palate, updated to 1999 in the University of Chile Maternity Hospital and other Chilean hospitals participating in the ECLAMC. Patients and methods: A review of the ECLAMC database that registers all births or stillbirths of more than 500 g. Results: The incidence of orofacial cleft, at the University of Chile Maternity Hospital, in the period 1991-1999 was 17.8 per 10000 (12.6 for cleft lip and 5.2 for cleft palate. The incidence in the rest of participating hospitals was 12.04 and 4.6 respectively. Males had a higher incidence of cleft lip and 80% of children with cleft palate, had other malformations, most of them as part of a syndrome (13 and 18 trisomy, holoproscencephalia, Pierre Robin, Apert en EE syndromes, anencephaly etc. In three of 12 children with cleft lip but without cleft palate, there was a relative with the same malformation. Conclusions: It is proposed that both entities, cleft lip with or without cleft palate and cleft palate without cleft lip, are two etiopathogenically different conditions (Rev Méd Chile 2001; 129: 285-93.

  13. Serum Zinc Level in Newborns with Neural Tube Defects in Gorgan

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    AA Keshtkar

    2006-07-01

    Full Text Available Background: Neural tube defects (NTD are a group of congenital malformations that include spina bifida, anencephaly and encephalocele. Some investigations have indicated that Zinc deficiency is one of the causative factors of NTDs. This study was done to determine the relation between neural tube defect and neonatal serum Zinc level in Gorgan - North of Iran. Methods: This case-control study was carried out on 23 newborns with NTD and 35 healthy newborns, in Dezyani hospital in Gorgan- north of Iran. Serum zinc level was assessed with spectrophotometery. Data was analyzed by SPSS soft ware. Findings: Mean of serum Zinc levels in case and control groups were 8 (±3.9 mol/Lit and 12.3 (±4 Mol/Lit, respectively (p<0.001. Zinc deficiency was found in 43.5% of the cases and 8.6% of the controls (2 =9.73, p=0.002. The logistic regression analysis has shown an association between the presence of NTDs and zinc deficiency (OR=8.2, 95%CI: 1.9-34.7. Conclusion: This study showed that Zinc deficiency was thought to be one of the most important factors in the NTDs etiology in this area.

  14. Acceptability of prenatal testing and termination of pregnancy in Pakistan.

    Science.gov (United States)

    Jafri, H; Hewison, J; Sheridan, E; Ahmed, S

    2015-01-01

    This study aimed to assess acceptability of prenatal testing (PNT) and termination of pregnancy (TOP) for a range of conditions in Pakistani parents with and without a child with a genetic condition. A structured questionnaire assessing acceptability of PNT and TOP for 30 conditions was completed by 400 Pakistani participants: 200 parents with a child with a genetic condition (100 fathers and 100 mothers) and 200 parents without an affected child (100 fathers and 100 mothers). There was a high level of interest in PNT, where over 80 % of parents in all four study groups would want PNT for the majority of the conditions. There was comparatively less interest in TOP for the same conditions (ranging from 5 to 70 % of parents, with mothers of an affected child being most interested). Parents were most likely to be interested in TOP for conditions at the serious end of the continuum. More than half of the participants in each group would consider TOP for anencephaly and quadriplegia. The interest in PNT and TOP for a range of conditions suggests that rapidly developing PNT technologies are likely to be acceptable in Pakistan, a low-middle income level and Muslim country. The comparatively lower level of interest in TOP for the same conditions highlights ethical dilemmas that such technologies are likely to raise. PMID:25081227

  15. Molecular Regulation of Striatal Development: A Review

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    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.

  16. Malformaciones congénitas en Chile y Latino América: Una visión epidemiológica del ECLAMC del período 1995-2008

    Directory of Open Access Journals (Sweden)

    JULIO NAZER H

    2011-01-01

    Full Text Available Background: The Latin American Study of Congenital Malformations (ECLAMC hasperformed an epidemiológica! surveillance of congenital malformations since 1967. This allows to detectany unexpected change in the incidence of malformations, possibly caused by a new environmental teratogenic agent. Aim: To report a summary ofthe results thusfar obtained in this study. Material ana Methods: The ECLAMC datábase was analyzed and all Uve births and stillbirths ofmore than 500 grams in the period 1995-2008, were analyzed. Results: There were 2,409,407 births in the nine participant countries. Ofthese 31,516 (1.3% were stillbirths. The global rate of congenital malformations in this sample was 2.7%. In the studied period, there was a significant reduction in the rates of anencephaly and spina bifida in Chile and Argentina. In the rest ofthe countries, the global rates of malformations increased. Venezuela had the higher rate of teenage pregnancies (25%, followed by Colombia (23%. Chile had the higherpercentage ofwomen aged 35years or moregiving birth (14%, followed by Uruguay (13%. However, Chile had the higher rate of Down syndrome and Uruguay, the lowest (24.7 and 13.6per 10000. Conclusions: There is a tendency towards an increase in the rates of congenital malformations in this sample, with significant differences among countries.

  17. 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.

  18. 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

  19. Recent studies on neural tube defects in embryos of diabetic pregnancy: an overview.

    Science.gov (United States)

    Dheen, S Thameem; Tay, Samuel S W; Boran, Jiang; Ting, Loh Wan; Kumar, S Dinesh; Fu, Jiang; Ling, Eng-Ang

    2009-01-01

    Maternal diabetes develops in 2-6% of total pregnancies, depending on geographical and ethnic background. About 10% of fetuses from diabetic pregnancy display congenital malformations in various organ systems including cardiovascular, gastrointestinal, genitourinary and neurological systems, among which the neural tube defects (NTDs) such as anencephaly, holoprosencephaly and syntelencephaly were more frequently demonstrated. Recent studies by the Diabetes Control and Complications Trial Research Group show that tight glycemic control early in pregnancy decreases the progression of a number of diabetic complications. However, it appears that the pre-existing tissue damage cannot be reversed even after normoglycemic levels are achieved during pregnancy. In recent years, considerable efforts have been made to investigate the etiology of birth defects among infants of diabetic mothers. It has been shown that diabetes-induced fetal abnormalities are accompanied by some metabolic disturbances including elevated superoxide dismutase (SOD) activity, reduced levels of myoinositol and arachidonic acid and inhibition of the pentose phosphate shunt pathway. Moreover, the frequency of fetal malformations in diabetic pregnancy has been reported to be markedly reduced by dietary supplements of antioxidants such as vitamin E, vitamin C and butylated hy- droxytoluene, suggesting that oxidative stress is involved in the etiology of fetal dysmorphogenesis. Furthermore, several experimental studies have shown that NTDs in embryos of diabetic mice are associated with altered expression of genes, which control development of the neural tube. In this review, recent findings of possible molecular mechanisms which cause morphological changes during neural tube development in embryos of diabetic pregnancy are discussed. PMID:19519395

  20. [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

  1. Gross congenital malformation at birth in a government hospital

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    Sandeep Sachdeva

    2014-01-01

    Full Text Available A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks with three leading malformation as anencephaly (44.68%, talipes equinovarus (17.02% and meningomyelocele (10.63%. Higher risk of malformed births were noticed amongst un-booked (2.07% in-comparison to booked (1.01% mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]; gravida status of at least 3 (2.69% followed by 1 (1.43% and 2 (1.0% respectively; pre-term (5.13% vs. term (0.66%; cesarean section (4.36% versus vaginal delivery (0.62%. Mortality was significantly higher among congenitally malformed (17.35% than normal (0.34% newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid that needs appropriate attention and management.

  2. 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

  3. MISPLACED AND MIGRATED IUCD: A CASE REPORT

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    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

  4. 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

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

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    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.

  6. Monokoryonik diamniotik ikiz esi major fetal anomali gebeliklerde bipolar kord koagulasyonu --- Bipolar cord coagulation in monochorionic twins discordant for major fetal anomalies

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    Kemal Gungorduk

    2008-04-01

    tartisilarak ailelere prenatal tedavi secenegi olarak sunulmalidirOBJECTIVE: We aimed to evaluate perinatal outcome of selective fetocide in monochorionic diamniotic (MCDA twins discordant for major fetal anomalies. MATERIALS-METHOD: Stduy group included nine cases of MCDA twin (triplet pregnancies discordant for major fetal anomalies; anencephaly (n: 2, inencephaly (n: 1, lumbar meningomyolocele (n: 1, hidrops fetalis (n: 1, acardiac twin (n: 2, twin-to-twin transfusion syndrome (stage III, n: 1 and monochorionic triamniotic triplet discordant for anencephaly (n: 1. For bipolar coagulation of the umbilical cord, we used 3.5 mm laparoscopic trocar and 3.0 mm bipolar forcep. The procedures were performed under the guidance of transabdominal ultrasonography. RESULTS: The mean gestational age of the cases at intervention and at delivery were 20 weeks (R: 16-24 and 34 weeks (R: 22-38, respectively. The procedure of bipolar coagulation was carried out in mean 20 min (R: 15-40 min. without maternal complication. One case was aborted at 20 weeks of gestation because of preterm premature rupture of membrane after the procedure. Another case was delivered before 32 weeks, at 28+4 week of gestation, and died at postnatal six month age unrelated to intervention. The other seven cases were delivered after 32 gestational weeks. In eight cases, the procedure were performed without fetal complication. Perinatal outcome as live birth was 88.8% (N: 8/9. Postnatal ages of surviving seven babies were between 8-40 months, and they have been growing up as healthy. CONCLUSIONS: Ultrasonographic guided bipolar cord coagulation as a selective fetocide can be succesfully performed to increase the survival rate or prevent morbidity of healthy co-twin in the cases of MCDA (tripelts discordant major fetal anomalies candidate for selective termination, and should be offered as a choice of prenatal therapy after the parents were informed for intervention or follow up.

  7. Efeito da fortificação com ácido fólico na redução dos defeitos do tubo neural The effect of folic acid fortification on the reduction of neural tube defects

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    Leonor Maria Pacheco Santos

    2007-01-01

    Full Text Available Defeitos do tubo neural são malformações que ocorrem na fase inicial do desenvolvimento fetal, levando à anencefalia e espinha bífida; o ácido fólico é o mais importante fator de risco identificado até hoje. A prevalência relatada de defeitos do tubo neural coloca o Brasil no patamar dos países com as mais altas taxas no mundo. Inquéritos sobre consumo de folato entre gestantes brasileiras mostram ingestão altamente deficiente (Neural tube defects are congenital malformations that occur during initial fetal development, leading to anencephaly and spina bifida; folic acid deficiency is the most important risk factor identified to date. Brazil has one of the world's highest neural tube defect rates. Food consumption surveys among pregnant Brazilian women showed a high rate of inadequate folic acid intake (< 0.6mg/day. In 2004, the National Health Surveillance Agency (ANVISA mandated the fortification of corn meal and wheat flour with folic acid (0.15mg/100g. The National Family Budget Survey estimated the average amount of bread/flour products available in households as 106.1g/day (contributing with 0.16mg folic acid/day. However, while in the South of the country the supply was 144g/day, in the North and Central West it barely reached 70g/day. Folic acid food fortification is mandatory in some 40 countries, but only four have assessed this strategy. The existing studies have all shown a significant impact, ranging from 19 to 78%. Folic acid fortification is an undeniably important intervention for primary prevention, and neural tube defects can now be considered a preventable epidemic.

  8. 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

  9. 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.

  10. 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.

  11. 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.)

  12. Maternal consumption of non-staple food in the first trimester and risk of neural tube defects in offspring.

    Science.gov (United States)

    Wang, Meng; Wang, Zhi-Ping; Gao, Li-Jie; Yang, Hui; Zhao, Zhong-Tang

    2015-05-01

    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. PMID:25919306

  13. 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

  14. Neonatal and Pediatric Organ Donation: Ethical Perspectives and Implications for Policy.

    Science.gov (United States)

    Sarnaik, Ajit A

    2015-01-01

    The lifesaving processes of organ donation and transplantation in neonatology and pediatrics carry important ethical considerations. The medical community must balance the principles of autonomy, non-maleficence, beneficence, and justice to ensure the best interest of the potential donor and to provide equitable benefit to society. Accordingly, the US Organ Procurement and Transplantation Network (OPTN) has established procedures for the ethical allocation of organs depending on several donor-specific and recipient-specific factors. To maximize the availability of transplantable organs and opportunities for dying patients and families to donate, the US government has mandated that hospitals refer potential donors in a timely manner. Expedient investigation and diagnosis of brain death where applicable are also crucial, especially in neonates. Empowering trained individuals from organ procurement organizations to discuss organ donation with families has also increased rates of consent. Other efforts to increase organ supply include recovery from donors who die by circulatory criteria (DCDD) in addition to donation after brain death (DBD), and from neonates born with immediately lethal conditions such as anencephaly. Ethical considerations in DCDD compared to DBD include a potential conflict of interest between the dying patient and others who may benefit from the organs, and the precision of the declaration of death of the donor. Most clinicians and ethicists believe in the appropriateness of the Dead Donor Rule, which states that vital organs should only be recovered from people who have died. The medical community can maximize the interests of organ donors and recipients by observing the Dead Donor Rule and acknowledging the ethical considerations in organ donation. PMID:26636051

  15. 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

  16. 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 < 0.05) decrease of 51 % in the prevalence of neural tube defects from the pre-fortification period to the post-fortification period. Folic acid fortification via several basic food sources has shown to be a successful public health intervention for Costa Rica. Costa Rica's experience can serve as an example for other countries seeking to develop and strengthen both their birth defects surveillance and fortification programs. PMID:24952876

  17. Mapping genes for liability to exencephaly in SELH/Bc mice

    Energy Technology Data Exchange (ETDEWEB)

    Gunn, T.M.; Juriloff, D.M. [Univ. of British Columbia, Vancouver (Canada)

    1994-09-01

    Exencephaly occurs in 6-20% of SELH/Bc strain mouse embryos. Liability to the cranial neural tube closure defect in SELH/Bc is multigenic, making it a good animal model for the study of the common human homolog, anencephaly. Our previous studies showed that the exencephaly-liability in SELH/Bc is caused by 2 or 3 loci. We have undertaken to map these genes. We crossed SELH/Bc to the normal strain, LM/Bc, and are using the F{sub 2}generation to map the segregating liability loci. 100 F{sub 2} males are being testcrossed to SELH/Bc to determine their genetic liability to exencephaly (based on frequency produced in their offspring, 100 scoreable embryos each). 83 males have been tested to date, producing exencephaly frequencies of between 0% and 16%. 26 have produced 0% exencephaly; 10 have produced at least 6%. These frequencies indicate that fewer than four exencephaly-liability loci are segregating. DNA from the 10 F{sub 2} males that produce the highest frequency of exencephaly and 10 that produce no exencephaly are being typed for microsatellite markers covering the 19 autosomes at 20 cM (or less) intervals. Of the 221 markers typed to date, 94 (43%) are detectably different between SELH/Bc and LM/Bc. Preliminary data based on five 0% males and five {open_quotes}high{close_quotes} males has excluded several chromosomal regions for the presence of an exencephaly-liability locus; e.g., most of chromosomes 2, 3, 4, 7, 12, 15, 17, and 19. The preliminary data suggest that there may be an exencephaly-liability locus on chromosome 13.

  18. 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

  19. Functional variant in methionine synthase reductase intron-1 is associated with pleiotropic congenital malformations.

    Science.gov (United States)

    Cheng, Haiqin; Li, Huili; Bu, Zhaoli; Zhang, Qin; Bai, Baoling; Zhao, Hong; Li, Ren-Ke; Zhang, Ting; Xie, Jun

    2015-09-01

    Congenital malformations, such as neural tube defects (NTDs) and congenital heart disease (CHD), cause significant fetal mortality and childhood morbidity. NTDs are a common congenital anomaly, and are typically induced by higher maternal homocysteine (Hcy) levels and abnormal folate metabolism. The gene encoding methionine synthase reductase (MTRR) is essential for adequate remethylation of Hcy. Previous studies have focused on the coding region of genes involved in one-carbon metabolism, but recent research demonstrates that an allelic change in a non-coding region of MTRR (rs326119) increases the risk of CHD. We hypothesized that this variant might contribute to the etiology of NTDs as well, based on a common role during early embryogenesis. In the present study, 244 neural tube defect cases and 407 controls from northern China were analyzed to determine any association (by χ (2) test) between rs326119 and disease phenotypes. Significant increased risk of anencephaly was seen in MTRR variant rs326119 heterozygote (het) and homozygote (hom) individuals [odds ratios (OR)het = 1.81; ORhom = 2.05)]. Furthermore, this variant was also a risk factor for congenital malformations of the adrenal gland (OR = 1.85), likely due to multiple systemic malformations in the NTDs case population. Our present data indicate that the rs326119 non-coding variant of MTRR has a pleiotropic effect on the development of multiple tissues, especially during early stages in utero. This suggests the allelic state of MTRR is a significant clinical factor affecting Hcy levels and optimal folic supplementation. PMID:26045171

  20. Can postmortem fetal MR imaging replace autopsy?

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Jeong Yeon; Song, Mi Jin [Sungkyunkwan Univ. School of Medicine, Seoul (Korea, Republic of); Kim, Seoung Hyup [Seoul National Univ. College of Medicine, Seoul (Korea, Republic of)

    2001-02-01

    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.

  1. Early delivery of anencephalic fetus based on personality rights and constitutional principles Antecipação do parto de feto anencefálico à luz dos direitos da personalidade e dos princípios constitucionais

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    Martha Asuncion Enriquez Prado

    2009-05-01

    Full Text Available This paper discusses the study of early delivery of anencephalic fetus. It is based on the Allegation of Breach of Fundamental Precept No. 54, which seeks to legalize this. Furthermore, it discusses the conduct of pregnant women, and argues that this procedure is considered atypical: these cases would not qualify as abortion, because for fetuses with this anomaly there is no expectation of extra-uterine life. However, it emphasizes the autonomy of the pregnant woman charging her for deciding on the anticipation or not of childbirth. The analyses of this study are based on personality rights and constitutional principles, both in relation to the fetus, as compared to the women. It also discusses the issue of abortion in Brazil and clarifies the concept of anencephaly.Este trabalho aborda o estudo da antecipação do parto de feto anencefálico. Toma como base de pesquisa a Argüição de Descumprimento de Preceito Fundamental nº 54 que busca legalizar este fato. Ademais, discute acerca da conduta da gestante, defendendo que essa seja considerada atípica, visto que não se caracteriza como aborto tais casos, pois para os fetos portadores desta anomalia não existe expectativa de vida extra-uterina. Contudo, ressalta a autonomia da vontade da grávida incumbindo a ela escolher pela realização ou não de tal procedimento. As análises deste estudo fundamentam-se nos direitos da personalidade e nos princípios constitucionais, tanto em relação ao feto com em relação à mulher, além de abordar o tema do aborto no Brasil e de esclarecer mais sobre o conceito de anencefalia.

  2. Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice.

    Science.gov (United States)

    Murdoch, Jennifer N; Damrau, Christine; Paudyal, Anju; Bogani, Debora; Wells, Sara; Greene, Nicholas D E; Stanier, Philip; Copp, Andrew J

    2014-10-01

    Neural tube defects (NTDs) are among the commonest and most severe forms of developmental defect, characterized by disruption of the early embryonic events of central nervous system formation. NTDs have long been known to exhibit a strong genetic dependence, yet the identity of the genetic determinants remains largely undiscovered. Initiation of neural tube closure is disrupted in mice homozygous for mutations in planar cell polarity (PCP) pathway genes, providing a strong link between NTDs and PCP signaling. Recently, missense gene variants have been identified in PCP genes in humans with NTDs, although the range of phenotypes is greater than in the mouse mutants. In addition, the sequence variants detected in affected humans are heterozygous, and can often be detected in unaffected individuals. It has been suggested that interactions between multiple heterozygous gene mutations cause the NTDs in humans. To determine the phenotypes produced in double heterozygotes, we bred mice with all three pairwise combinations of Vangl2(Lp), Scrib(Crc) and Celsr1(Crsh) mutations, the most intensively studied PCP mutants. The majority of double-mutant embryos had open NTDs, with the range of phenotypes including anencephaly and spina bifida, therefore reflecting the defects observed in humans. Strikingly, even on a uniform genetic background, variability in the penetrance and severity of the mutant phenotypes was observed between the different double-heterozygote combinations. Phenotypically, Celsr1(Crsh);Vangl2(Lp);Scrib(Crc) triply heterozygous mutants were no more severe than doubly heterozygous or singly homozygous mutants. We propose that some of the variation between double-mutant phenotypes could be attributed to the nature of the protein disruption in each allele: whereas Scrib(Crc) is a null mutant and produces no Scrib protein, Celsr1(Crsh) and Vangl2(Lp) homozygotes both express mutant proteins, consistent with dominant effects. The variable outcomes of these genetic

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

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    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

  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. 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。

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

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    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.

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

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    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.

  8. Comparative Study of Therapeutic Abortion Permissions in Central Clinical Department of Tehran Legal Medicine Organization Before and After Approval of Law on Abortion in Iran

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    Mehrzad Kiani

    2008-12-01

    Full Text Available Objective: In Iran before 2003 and approval of therapeutic abortion law in parliament there was severe restriction in abortion permissions and at that time, after presenting "The Guidelines for Therapeutic Abortion" by legal medicine organization of Iran (from now on known as LMO presented in 2003 and finally, Islamic consultative assembly voted to approve the indications determined by LMO in 2005. Methods: In this study all cases referred to the clinical examination department of legal medicine organization in Tehran central region to get therapeutic abortion permission during one year before approval of therapeutic abortion law (first study from June 1999 to the end of May 2000 and after that (second study from early October 2006 to the end of September 2007, who could get this permission were considered accurately. Information needed to perform this study collected via completion of pre-designated forms and analyzed with SPSS software and the results compared in these two groups. Findings: In the second study in 85.36% of cases, fetal disorders and in 14.63%, maternal diseases and in the first study just 126 permission were issued, with 17% fetal disorders (major Thalassemia was the only considered case at that time and 83% maternal indications were the reason to issue permission for abortion. In the second study the major fetal and maternal indications were: anencephaly and cardiovascular problems. The 2nd study shows that in 202 cases (35.19%, abortion permission was issued after confirmation of three specialists (cases which were forecasted in the Predetermined Abortion Indications List. Conclusion: This study shows that in spite of all efforts made so far to present legal approaches for abortion, it is not still time to stop working on the issue and perhaps some other diseases should be added to the mentioned list in future; but this would definitely needs joint cooperation of different authorities, governmental and judicial organization.

  9. 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.

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

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    Zhang Xingguang

    2012-08-01

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

  11. 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.

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

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    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.

  13. RESTRICCIÓN DEL CRECIMIENTO INTRAUTERINO COMO FACTOR DE RIESGO PARA MALFORMACIONES CONGÉNITAS

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    Julio Nazer H

    2009-01-01

    Full Text Available Antecedentes: La restricción del crecimiento intrauterino (RCIU se estima que está presente en el 5% de los nacimientos y es la manifestación de procesos aberrantes que impiden el desarrollo normal del feto. Objetivos: Estimar la frecuencia de esta patología en la maternidad del Hospital Clínico de la Universidad de Chile. Obtener la tasa prevalencia al nacimiento de malformaciones congénitas (MFC y comparar la frecuencia en recién nacidos pequeños (PEG con los adecuados (AEG y grandes (GEG para la edad gestacional. Método: Se estudian todos los nacimientos, vivos y mortinatos, ocurridos entre enero de 1997 a diciembre de 2008, contenidos en la base de datos del ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas desde 1969 a la fecha. Se excluyen los recién nacidos con malformaciones como hidrocefalia, anencefalia e hidrops, que por sus características dificultan la posibilidad de clasificación en PEG, AEG o GEG. Resultados: 10,1% de los nacimientos del período eran PEG. Entre los nacidos vivos 10% fueron PEG, mientras que 33,5% de los mortinatos eran PEG (pBackground: Fetal growth restriction (FGR is the result of anomalies that prevent the normal development of the fetus, it is present in about the 5% of births. Objectives: To estímate the frequency of FGR in the Clini-cal Hospital of the University of Chile. To estímate the congenital malformation prevalence rate at birth and compare it among small (SGE, adequate (AGE and large (LGE newborns according their gestational age. Methods: All live births and stillbirths included in the ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas registered from January 1997 and December 2008 were considered. Newborns with congenital malformations that modified per se the size of the child, like hydrocephaly anencephaly and hydrops were excluded. Results: 10.1% of newborns were SGE. Among live births 10% were SGE instead of the 33.5% found in

  14. Madurez de las vellosidades coriales en relación con malformaciones del tubo neural durante el tercer trimestre del embarazo

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    Olivar C Castejón

    2006-12-01

    Full Text Available Objetivo: Evaluar las características que determinan el grado de desarrollo de la vellosidad placentaria en los casos de las malformaciones del tubo neural. Ambiente: Laboratorio de microscopia electrónica del CIADANA, Maracay. Métodos: Se utilizó un protocolo de observación, usando la microscopía de luz, basado en los tipos de vellosidades y de membranas vásculosincitiales; incremento de citotrofoblastos, calcificación y puentes sincitiales en los casos de acraneo-excencefalia; cráneo-raquisquisis con trisomía 18, mielomeningocele con hidrocefalia asociada con otras malformaciones congénitas, mielomeningocele lumbar, anencefalia y malformación de Chiari tipo II apareando con controles a la misma edad gestacional sin malformaciones. Resultados: Las cifras en porcentaje de vellosidades maduras e inmaduras y de membranas vásculosincitiales periféricas o centrales exhiben variaciones según la malformación con predominio de inmaduras. Se encontró daño hipóxico velloso extenso. Conclusión: Estos resultados revelaron inmadurez vellosa persistente correspondiéndose con mala perfusión placentaria y disfunción de la capacidad de transferencia. Estos hallazgos son de interés cuando otros test como la determinación de alfafetoproteínas y estudios ultrasonográficos son empleados al brindar información adicional útil en el diagnóstico complementario.Objective: To evaluate the characteristics which determine the level of development of placental villi in the cases of defects of the neural tube. Setting: Laboratory of electron microscopy, CIADANA, Maracay. Methods: An observational protocol was performed with the use of light microscopy, based on the types of villi and vasculosyncytial membranes; increase of cytotrophoblast cells, calcification and syncytial bridges in the cases of acranium-excencephaly, cranium rachischisis-trisomy 18, mielomeningocelehydrocephaly with inherited malformations, mielomeningocele lumbar, anencephaly

  15. Health needs assessment for congenital anomalies in middle-income countries: Examining the case for neural tube defects in Brazil.

    Science.gov (United States)

    Schuler-Faccini, Lavinia; Sanseverino, Maria Teresa V; de Rocha Azevedo, Lígia Marques; Moorthie, Sowmiya; Alberg, Corinna; Chowdhury, Susmita; Sagoo, Gurdeep S; Burton, Hilary; Nacul, Luis C

    2014-04-01

    Recent economic improvement in Brazil has been reflected in better maternal-child health indicators, with decreases in infant and perinatal mortality. However, under-five mortality due to congenital disorders remained unchanged, and congenital disorders have become the second leading cause of infant mortality. In the present study, we used the PHG Foundation Health Needs Assessment (HNA) Toolkit with the objective of first assessing the burden of disease caused by neural tube defects (NTDs) in Brazil and the impact of interventions already put in place to address the burden, and second to evaluate and prioritize further interventions and policies required for its prevention and treatment. The results from these two components of the HNA process are described in this paper. The published literature was reviewed to identify studies of NTDs (prevalence; morbidity; prenatal, perinatal, and postnatal mortality; treatment or prevention). Data on indicators of maternal and child health were obtained directly from the Brazilian Ministry of Health, through the online Live Births Information System (SINASC) and from the Mortality Information System (SIM). Descriptive analyses included reports of the rates of NTD in liveborns, fetal, and infant deaths. Differences between folic acid flour pre-fortification (2001-2004) and post-fortification (2006-2010) periods were expressed as prevalence rate ratios. Around 20 % of fetal deaths were related to congenital disorders with approximately 5 % of those being NTDs. For infant mortality, congenital disorders were notified in approximately 15 % of cases, with NTDs present in 10 % of the malformed children. Although statistically significant, the prevalence rate ratio (PRR) for spina bifida in live births was only 0.937 (95 % confidence interval (CI) 0.884-0.994), a decrease of 6.3 % when comparing the pre and post-fortification periods. The impact of fortification seemed to be more visible in fetal deaths due to anencephaly

  16. Comparison of Ultrasound and MRI in Detecting Fetal Anomalies

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    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

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

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    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

  18. 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

  19. FETAL FOOT LENGTH AND HAND LENGTH: RELATIONSHIP WITH CROWN RUMP LENGTH AND GESTATIONAL AGE

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    Garima

    2015-12-01

    Full Text Available BACKGROUND Estimation of gestational age of fetus is of great medicolegal importance. Multiple parameters of the fetal anatomical measurements are in use. However, gestational age assessment may be difficult in fetus with anencephaly, hydrocephalus, short limb dysplasia, post mortem destruction or in mutilated case. Study of literature suggests that fetal foot has a characteristic pattern of normal growth and the fetal foot shows gradual increase in length relative to the length of the embryo and could be used to estimate gestational age. The purpose of the present study is to determine the accuracy in estimating gestational age using fetal foot and hand length by studying its relation with crown rump length in the foetuses of Manipuri origin. AIMS AND OBJECTIVES 1 To study the relationship between fetal crown rump length and fetal hand and foot length, thereby determining the accuracy in estimating gestational age by a cross-sectional study. MATERIALS AND METHODS A total of 100 formalin fixed fetuses of Manipuri origin, obtained from the Department of Obstetrics and Gynaecology, Regional Institute of Medical Sciences, Imphal, were included in the study, carried out in the Department of Anatomy, from February 2015 to July 2015. The parameters studied were crown rump length, foot length and hand length of fetuses. The data was analysed using SPSS software by regression analysis. Graphs were also plotted to determine pattern of growth and their correlation with crown rump length if any. RESULTS A total of 100 fetuses were studied, of which 43 were females and 57 were males. The mean foot length and hand length progressively increased with increase in crown rump length. Measurements were not significantly different in right or left side or among male and female fetuses. A statistically significant linear relationship was seen between foot length and crown rump length of the fetus (r=0.980, p<0.0001 and hand length and crown rump length of the fetus

  20. 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

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    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

  1. 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

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    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.

  2. 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

  3. 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

  4. Defectos del tubo neural en productos de abortos espontáneos

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    María Luisa Hernández

    2009-03-01

    tedra de Histología y Embriología de la Universidad del Zulia, Maracaibo. Results: A total of 55 products were evaluated, 27 (49.09 % male, 21 (38.18 % females, and 7(12.43 % no identified by morphological characteristics external genitals. Only 5 (9.09 % had neural tube defects and the anomalies find were: anencephaly, spina bifida lumbosacral, iniencephaly and encephalocele. Conclusion: The identification of the neural tube defects in the products of spontaneous abortion will permit accurate counseling to the parents about the recurrence risk, the particular care required in further gestations, the possibility of prenatal diagnosis and to apply prevention methods.

  5. Impacto de la fortificación de alimentos con ácido fólico en los defectos del tubo neural en Costa Rica Impact of the fortification of food with folic acid on neural tube defects in Costa Rica

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    María de la Paz Barboza Argüello

    2011-07-01

    Full Text Available OBJETIVO: Evaluar el impacto de la fortificación de alimentos con ácido fólico en las tendencias de las prevalencias de los defectos del tubo neural (DTN y la tasa de mortalidad infantil (TMI por este trastorno en Costa Rica. MÉTODOS: Se analizaron los datos de vigilancia del Centro de Registro de Enfermedades Congénitas y el Centro Centroamericano de Población. Se consideraron defectos del tubo neural la anencefalia, la espina bífida y el encefalocele. Se examinaron las tendencias durante 1987-2009, así como las diferencias de tasas (intervalo de confianza [IC] 95% de prevalencia y mortalidad antes de la fortificación de alimentos con ácido fólico y hasta 12 años después de su implementación. Se determinó el aporte de la fortificación al descenso en la TMI general. RESULTADOS: En 1987-1997, previo al período de fortificación de alimentos con ácido fólico, la prevalencia de DTN fue de 12/10 000 nacidos (IC95%: 11,1-12,8, mientras que en 2009 fue de 5,1/10 000 nacidos (3,3-6,5. La TMI por DTN en 1997 fue de 0,64/1 000 nacimientos (46-0,82 y en 2009 de 0,19/1 000 (0,09-0,3. La TMI por DTN y su prevalencia disminuyeron en forma significativa, 71% y 58% respectivamente (P OBJECTIVE: Evaluate the impact of the fortification of food with folic acid on prevalence trends for neural tube defects (NTD and the infant mortality rate (IMR associated with this disorder in Costa Rica. METHODS: The surveillance data from the Congenital Disease Registry Center and the Central American Population Center were analyzed. The neural tube defects considered were anencephaly, spina bifida, and encephalocele. The trends from 1987-2009, as well as the differences in prevalence and mortality rates prior to and up to 12 years after food fortification with folic acid, were examined (95% confidence interval [CI]. The contribution of fortification to the decrease in the overall IMR was determined. RESULTS: During 1987-1997, prior to the period of food

  6. Brain tissue aspiration neural tube defect Aspiração de tecido cerebral em casos de defeitos de fechamento do tubo neural

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    Luiz Cesar Peres

    2005-09-01

    Full Text Available The study aimed to find out how frequent is brain tissue aspiration and if brain tissue heterotopia could be found in the lung of human neural tube defect cases. Histological sections of each lobe of both lungs of 22 fetuses and newborn with neural tube defect were immunostained for glial fibrillary acidic protein (GFAP. There were 15 (68.2% females and 7 (31.8% males. Age ranged from 18 to 40 weeks of gestation (mean= 31.8. Ten (45.5% were stillborn, the same newborn, and 2 (9.1% were abortuses. Diagnosis were: craniorrhachischisis (9 cases, 40.9%, anencephaly (8 cases, 36,4%, ruptured occipital encephalocele and rachischisis (2 cases, 9.1% each, and early amniotic band disruption sequence (1 case, 4.5%. Only one case (4.5% exhibited GFAP positive cells inside bronchioles and alveoli admixed to epithelial amniotic squames. No heterotopic tissue was observed in the lung interstitium. We concluded that aspiration of brain tissue from the amniotic fluid in neural tube defect cases may happen but it is infrequent and heterotopia was not observed.O objetivo do estudo foi identificar qual a freqüência de aspiração de tecido cerebral e a existência de heterotopia nos pulmões de casos humanos de defeito de fechamento do tubo neural através da reação imuno-histoquímica para proteína fibrilar glial ácida (GFAP em cortes histológicos de todos os lobos de ambos os pulmões de 22 casos de fetos e neonatos com defeito de fechamento do tubo neural. Havia 15 casos femininos (68,2% e 7 masculinos (31,8%, com idade gestacional variando de 18 a 40 semanas (média= 31,8, sendo natimortos e neomortos 10 (45,5% cada e 2 (9,1% abortos. Os diagnósticos foram: Craniorraquisquise (9 casos, 40,9%, anencefalia (8 casos, 36,4%, encefalocele occipital rota e raquisquise (2 casos, 9,1% e 1 (4,5%caso de seqüência de disruptura amniótica precoce. Somente 1 caso (4,5% apresentou células positivas dentro de bronquíolos e alvéolos em meio a células epiteliais

  7. Folic Acid Consumption in Fars Province, Southern Iran

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    SJ Massumi

    2011-06-01

    Full Text Available

    Background: Spina bifida and anencephaly are among serious and fatal anomalies in infants that may lead to a 50-70% of reduction in incidence when folic acid is consumed before conception.

    Methods: In a cross sectional study, 2997 pregnant women were evaluated to determine the level of their knowledge and practice about using folic acid in Fars Province, southern Iran.

    Results: Eighty percent of pregnant women were familiar with the name of folic acid, 44.7% had the knowledge of its importance during pregnancy, 31.2% and 8% had the knowledge about its effect in reduction of fatal and neurotic anomalies in fetuses, respectively. 86.6% consumed folic acid and 11% used it before awareness of their pregnancy.

    La altitud como factor de riesgo para defectos deL tubo neuraL (DTN Altitude as a risk factor for neural tube defects (NTD

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    Wilmar Saldarriaga

    2007-09-01

    Universitario San Ignacio. Newborns delivered at these institutions between February 2004 and March 2005 were included in the study. Prevalence ratio was estimated. Results: 7,201 births were registered at the Valle Teaching Hospital between February 2004 and March 2005 and 21 cases of newborns with NTD were identified (29.2 /10,000 newborn prevalence. 15,239 births were registered for the same period at the four institutions in Bogotá; 9 newborns having NTD were identified (6/10,000 live newborn prevalence. A statistically significant difference was observed for all forms of NTD (RR: 4.94; 95%CI: 2.26-10.78, markedly so for anencephaly (RR: 8.46; 95%CI: 1.80-39.85 and spina bifida (RR: 3.81; 95%CI: 1.28-11.36. Conclusions: NTD prevalence was greater in cities lower than 2,000 metres above sea level, as previously reported in the literature.

  8. Comparación entre el diagnóstico prenatal y anatomopatológico de las anomalías congénitas Correlation between prenatal diagnosis of congenital malformations and pathological studies

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    Victoria Marinella Rivera Martínez

    2007-04-01

    aim of the study was to compare the ultrasound prenatal diagnosis and the pathological findings after the necropsy. In 82,41 % of the cases, there was a coincidence between the two methods. Brain and spinal anomalies were the most frequent (30,99 %. In this group, ultrasound examination identified all cases of anencephaly and 73% of cases with spina bifida. The correlation between ultrasound examination and necropsy was higher in cases of brain and cardiovascular malformations. Prenatal diagnosis was done before 26 weeks gestation in 81,4 % of cases.

  9. 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.

  10. 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

  11. 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

  12. An analysis of 1018 cases of ultrasonography

    International Nuclear Information System (INIS)

    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. An analysis of 1018 cases of ultrasonography

    Energy Technology Data Exchange (ETDEWEB)

    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.

  14. 青龙满族自治县围产儿出生缺陷情况分析及对策研究

    Institute of Scientific and Technical Information of China (English)

    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

  15. 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

  16. 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

  17. 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

    Directory of Open Access Journals (Sweden)

    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

  18. 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

    Directory of Open Access Journals (Sweden)

    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

  19. Defeitos de fechamento do tubo neural e fatores associados em recém-nascidos vivos e natimortos Neural tube defects and associated factors among liveborn and stillborn infants

    Directory of Open Access Journals (Sweden)

    Marcos J.B. Aguiar

    2003-04-01

    evaluate the prevalence and factors associated to neural tube defects in liveborn and stillborn infants delivered at the Hospital das Clínicas, UFMG, from January 8, 1999 to July 31, 2000. METHODS: this is a descriptive study, based on a database, according to the Latin-American Collaborative Study of Congenital Malformation (ECLAMC rules. Reports on liveborn and stillborn infants with congenital anomalies were prepared including information about morphological description, necropsy results, complementary exams, family, social and pregnancy histories and other clinical data. Each malformed liveborn infant originated a control of the same sex, without malformations. The liveborn and stillborn infants with neural tube defects delivered during that period were classified according to their defect and the presence or absence of associated defects. The liveborn and stillborn infants with neural tube defects were compared to newborns without neural tube defects according to their weight and sex and their mother's age and parity. Epi-Info 6.0 Program was used for the statistical analysis of the results. RESULTS: the prevalence of neural tube defects was 4.73 to 1,000 deliveries (89:18,807; it was significantly higher among stillborn infants (23.7:1,000 than among liveborn infants (4.16:1,000, p < 0.001. Neural tube defects were more often found among low weight liveborn infants (< 2,500 g, p < 0.001 and less frequently among women who had had more than three gestations, p = 0.007. No association was found regarding newborn's sex or maternal age. There was no association with newborn's sex and weight, maternal parity or age among stillborn infants. The most common neural tube defects were myelomeningocele (47.2%, anencephaly (26.9% and encephalocele (16.9%. The defects were found as isolated anomalies in 71.1% of the liveborn and 38.5% of the stillborn infants; they were part of a syndrome in 9.2% (liveborn and 7.7% (stillborn. CONCLUSIONS: the neural tube defect prevalence found

  1. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  3. 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

  4. 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

  5. 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