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Sample records for anencephaly

  1. Anencephaly

    Science.gov (United States)

    ... Page You are here Home » Disorders » All Disorders Anencephaly Information Page Anencephaly Information Page Search Disorders Search NINDS SEARCH SEARCH ... greater understanding of neural tube disorders, such as anencephaly, and open promising new avenues to treat and ...

  2. Anencephaly

    Science.gov (United States)

    ... Anencephaly is one of the most common neural tube defects. Neural tube defects are birth defects that affect the tissue ... It results when the upper part of the neural tube fails to close. Why this happens is not ...

  3. Dicephalus dibrachius with anencephaly.

    Science.gov (United States)

    Hassani, Amal A; Sandhu, Amarjit K; Sundari, Mangala S

    2005-10-01

    We present a case of inferior conjunction in a rare type of conjoined twins, dicephalus in a male fetus. The male fetus was born to a 24-year-old, gravida 2, and para 0, who had medical abortion at 15 weeks of gestation due to anencephaly with meningoencephalocele revealed by ultrasound examination. The fetus was born with 2 anencephalic heads with a bifurcation of the vertebral column and presence of 2 spinal cords. The other viscera and limbs were normal in number and location as for a male singleton. This case illustrates the relationship between conjoined twining, and neural tube defect more particularly anencephaly with a male zygote, which is an unusual presentation for this type of zygote gender.

  4. 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.

  5. Embryology of myelomeningocele and anencephaly.

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    Dias, Mark S; Partington, Michael

    2004-02-15

    The authors review current views on of the embryogenesis of the neural tube defects (NTDs) myelomeningocele and anencephaly. In this context, the following four approaches to the study of NTDs are discussed: normal morphogenesis and timing of early human neural development from conception to the ascent of the conus medullaris; mechanical and molecular biology of neural tube closure derived from experimental and animal models; morphological and biomechanical features of the NTDs myelomeningocele and anencephaly; and the experimental evidence for the importance of both genetic and environmental influences on human NTDs. Although considerable insight into both normal neural tube closure and the factor(s) by which this process may be disrupted has been reported in recent years, the exact mechanism(s) by which human myelomeningoceles and anencephaly arise remain elusive.

  6. 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.

  7. Anencephaly: MRI findings and pathogenetic theories.

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    Calzolari, Ferdinando; Gambi, Beatrice; Garani, Giampaolo; Tamisari, Lalla

    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.

  8. 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.)

  9. 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.

  10. The long arms of anencephaly: A refutation.

    Science.gov (United States)

    Barr, Mason

    2009-08-01

    A paper published in 1925 reported that human fetuses with anencephaly have arms that are longer than normal. This finding was accepted as true through the early 1990s. An analysis of body dimensions done in 1996 and enlarged and updated here shows that the arms of human fetuses with anencephaly are appropriate for gestational age and normal in proportion to their leg lengths. A subtle difference in measurement technique was found to explain the discordant findings.

  11. Complete ectopia cordis with anencephaly: a case report.

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    Chopra, Seema; Kalpdev, Arun; Suri, Vanita; Aggarwal, Neelam; Rohilla, Meenakshi

    2010-05-01

    We report a case of pentalogy of Cantrell with anencephaly diagnosed in utero on 2-dimensional sonography at 17 weeks of gestation. Due to associated anencephaly, termination of pregnancy was carried out. Histopathological examination confirmed the sonographic findings.

  12. Anencephaly: A pathological study of 41 cases

    Directory of Open Access Journals (Sweden)

    C Panduranga

    2012-01-01

    Full Text Available Background : Anencephaly is a lethal neural tube defect which is due to the defective closure of rostral pore of neural tube. In more than 50% of cases it is associated with other systemic anomalies. Hence this study was undertaken to assess pathological parameters associated with anencephaly in particular attention to associated systemic anomalies. Materials and Methods: It is a study on 41 anencephaly fetuses conducted in the Department of Pathology. The period of study is from January 2001 to December 2011. Results: Out of 41 cases, 30 (73% cases showed presence of systemic anomalies, 48.5% of the cases were observed in primigravida. Most common associated anomaly was spina bifida followed by gastrointestinal anomalies. Conclusion: Pathological examination of the abortus is essential to document the associated anomalies.

  13. Selective abortion in Brazil: the anencephaly case.

    Science.gov (United States)

    Diniz, Debora

    2007-08-01

    This paper discusses the Brazilian Supreme Court ruling on the case of anencephaly. In Brazil, abortion is a crime against the life of a fetus, and selective abortion of non-viable fetuses is prohibited. Following a paradigmatic case discussed by the Brazilian Supreme Court in 2004, the use of abortion was authorized in the case of a fetus with anencephaly. The objective of this paper is to analyze the ethical arguments of the case, in particular the strategy of avoiding the moral status of the fetus, the cornerstone thesis of the Catholic Church.

  14. 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.

  15. Maternal miscarriage history and risk of anencephaly.

    Science.gov (United States)

    Blanco-Muñoz, Julia; Lacasaña, Marina; Borja-Aburto, Victor Hugo

    2006-05-01

    Women with a history of reproductive loss may be at an increased risk of having an unfavourable outcome in subsequent pregnancies. Using data from a matched case-control study based on the record of the Epidemiological Surveillance System of Neural Tube Defects, we evaluated the association between history of maternal reproductive loss and the risk of anencephaly in three Mexican states. Mothers of 157 cases of anencephaly and 151 controls born during the period March 2000 to February 2001, were interviewed about their reproductive history and other additional factors, including socio-economic characteristics, prenatal care, use of tobacco and alcohol, presence of chronic diseases, acute illnesses and fever during the periconceptional period, and consumption of multivitamins and medicines during this period; mothers who reported no prior pregnancies were excluded from the analysis; 58 matched case-control pairs were used for the analysis. After adjusting for potential confounders, women with a history of miscarriage in previous pregnancies had 4.58 times more risk of having a child with anencephaly, than those who did not have this history; OR = 4.58, [95% CI 1.22, 17.23]. Our results suggest that a history of previous miscarriages is a risk indicator for anencephaly in future gestations. This does not necessarily mean that the miscarriage itself is the cause, but that common mechanisms could be involved in the aetiology of both events. Thus, women who have had histories of reproductive losses, especially miscarriages, should be a priority group for the primary and secondary prevention of neural tube defects.

  16. Timing of detection of anencephaly in The Netherlands

    NARCIS (Netherlands)

    Fleurke-Rozema, J. H.; van Leijden, L.; van de Kamp, K.; Pajkrt, E.; Bilardo, C. M.; Snijders, R. J. M.

    2015-01-01

    ObjectiveThe objective of this study is to assess the gestational age at detection and prevalence of anencephaly in the North of The Netherlands over a 5-year period. MethodsA case list of all cases of anencephaly from two fetal medicine units was compiled. Cases were included if the estimated due d

  17. ANENCEPHALY AND ITS ASSOCIATED ANOMALIES IN ANTENATAL SCANS

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    Janardhan Reddy

    2016-03-01

    Full Text Available BACKGROUND With modern real time ultrasonography, anencephaly, a fatal developmental defect of the brain and cranial vault can be detected as early as 11-12 weeks and the pregnant women can be saved from the trauma of unnecessary child bearing for longer periods. This study is done to detect the incidence of anencephaly in rural pregnant women of this Rayalaseema region and to know how early can anencephaly be detected with ultrasonography. MATERIALS AND METHODS This study is done in a period of two years at Santhiram Medical College and General Hospital, Nandyal in 14000 pregnant women, out of which 10 cases of anencephaly were detected with associated anomalies. RESULTS & CONCLUSIONS Anencephaly, a fatal developmental cranial defect can be prevented by usage of folic acid in early conception and by genetic counselling in further pregnancies.

  18. Prenatal diagnosis of a fetus with anencephaly and thumb agenesis.

    Science.gov (United States)

    Barone, Chiara; Bartoloni, Giovanni; Cataliotti, Antonella; Indaco, Lara; Pappalardo, Elisa; Barrano, Barbara; Ettore, Giuseppe; Bianca, Sebastiano

    2012-03-01

    Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of genetic counseling.

  19. A case of otocephaly with anencephaly and meningomyelocele.

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    Tos, T; Ceylaner, S; Senel, S; Aktas, S; Alp, Y

    2010-01-01

    A case of otocephaly with anencephaly and meningomyelocele: Otocephaly is a rare lethal syndrome with microstomia, aglossia, agnathia, and synotia as major clinical features due to arrest in development of the first branchial arch. Some associated anomalies may be present as cyclopia, holoprosencephaly, cerebellar hypoplasia, situs inversus, and other visceral anomalies. We describe a case of fetus, spontaneously aborted in the 14th week of gestation with otocephaly complex (agnathia, synotia, microstomia) and associated anencephaly and meningomyelocele.

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

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    Taşcı, Yasemin; Karasu, Yetkin; Erten, Ozlem; Karadağ, Burak; Göktolga, Umit

    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 32(nd) 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.

  1. Anencephaly in a german shepherd dog.

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    Huisinga, M; Reinacher, M; Nagel, S; Herden, C

    2010-09-01

    Anencephaly results from defects in neural tube closure early in gestation and, to the authors' knowledge, has not been reported in dogs. In this case, the canine fetus was stillborn at the 62nd day of gestation and had a hypoplastic calvarium, with flattened base of the skull and shallow orbits, causing protrusion of the eyes. Macroscopically, the brain was completely missing. Histologically, well-differentiated nerve fibers, fragments of cerebellar folia, and ganglia with large neurons and glial cells were detected in a loose stroma in sections through the cranial bone and adjacent soft tissue in the rudimentary cranial cavity. Immunohistochemically, single cells within the stroma expressed NeuN, consistent with mature neurons, whereas intracranial ganglion cells and nerves had mild expression of doublecortin. The presence of many immature, and only a few mature, neurons in the rudimentary nerve tissue in this case indicates a failure of physiological brain development and differentiation.

  2. [Anencephaly at 20 weeks gestation. What is the optimal gestational age for early diagnosis?].

    Science.gov (United States)

    Porath, M; Henrich, W; Schmider, A; Dudenhausen, J W

    2002-01-01

    Anencephaly is a lethal defect resulting from a disturbed closure of the neural tube. Prenatal diagnosis during first-trimester-scan is essential but implies pitfalls. Three findings of anencephaly at 20 weeks gestation are reported. Fetuses with anencephaly are correctly identified at 12 to 13 weeks gestation. Anencephaly occurs in absence of the cranial vault. Ultrasound findings can be normal until onset of ossification has definitely failed. A first trimester scan at 12 to 13 weeks allows reliable diagnosis and active management of anencephaly. At this gestational age fetal anatomy can be screened in detail by transvaginal ultrasound and nuchal translucency can be measured.

  3. Spontaneous pregnancy outcome after prenatal diagnosis of anencephaly.

    Science.gov (United States)

    Jaquier, M; Klein, A; Boltshauser, E

    2006-08-01

    Parents are usually told that many anencephalic offspring die in utero or soon after delivery, and many obstetricians offer elective termination of the pregnancy. Following the personal experience of the first author, a personal website was created with the intention of providing information and exchanging views with other parents confronted with a prenatal diagnosis of anencephaly. Data were collected from 211 pregnancies where the parents opted not to terminate pregnancy. These data revealed that polyhydramnios was a feature in 56 (26%) pregnancies, death in utero in 15 (7%) pregnancies, 72 (34%) babies were born prematurely (anencephaly is medically safe and should be considered as an option.

  4. Prolonged unassisted survival in an infant with anencephaly.

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    Dickman, Holly; Fletke, Kyle; Redfern, Roberta E

    2016-10-31

    Anencephaly is one of the most lethal congenital defects. This case report is of an anencephalic infant who lived to 28 months of life and defies current literature. She is the longest surviving anencephalic infant who did not require life-sustaining interventions. This case presents the obstacles that arose from this infant's prolonged life and recommendations based on these findings.

  5. MicroRNAs: potential regulators involved in human anencephaly.

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    Zhang, Zhiping; Chang, Huibo; Li, Yuanyuan; Zhang, Ting; Zou, Jizhen; Zheng, Xiaoying; Wu, Jianxin

    2010-02-01

    MicroRNAs (miRNAs) are posttranscriptional regulators of messenger RNA activity. Neural tube defects (NTDs) are severe congenital anomalies that substantially impact an infant's morbidity and mortality. The miRNAs are known to be dynamically regulated during neurodevelopment; their role in human NTDs, however, is still unknown. In this study, we show the presence of a specific miRNA expression profile from tissues of fetuses with anencephaly, one of the most severe forms of NTDs. Furthermore, we map the target genes of these miRNAs in the human genome. In comparison to healthy human fetal brain tissues, tissues from fetuses with anencephaly exhibited 97 down-regulated and 116 up-regulated miRNAs. The microarray findings were extended using real-time qRT-PCR for nine miRNAs. Specifically, of these validated miRNAs, miR-126, miR-198, and miR-451 were up-regulated, while miR-9, miR-212, miR-124, miR-138, and miR-103/107 were down-regulated in the tissues of fetuses with anencephaly. A bioinformatic analysis showed 881 potential target genes that are regulated by the validated miRNAs. Seventy-nine of these potential genes are involved in a protein interaction network. There were 6 co-occurrence annotations within the GOSlim process and 7 co-occurrence annotations within the GOSlim function found by GeneCodis 2.0. Our results suggest that miRNA dysregulation is possibly involved in the pathogenesis of anencephaly.

  6. A case report of recurrent anencephaly and literature review.

    Science.gov (United States)

    Koukoura, O; Sifakis, S; Stratoudakis, G; Mantas, N; Kaminopetros, P; Koumantakis, E

    2006-01-01

    Anencephaly is a rare congenital anomaly in which the forebrain, meninges, vault of the skull, and scalp all fail to form. We report a case of a 32-year-old gravida 2 woman with an anencephalic fetus detected at the 21st gestational week. She had a history of an intrauterine fetal death of an anencephalic fetus at the 20th gestational week two years before. We present the case and briefly review the literature.

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

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

    2016-01-01

    Background Early pregnancy complaints in emergency medicine are common. Emergency physicians (EP) increasingly employ ultrasound (US) in the evaluation of these complaints. As a result, it is likely that rare and important diagnoses will be encountered. We report a case of fetal anencephaly diagnosed by bedside emergency US in a patient presenting with first-trimester vaginal bleeding. Case Report A 33-year-old patient at 10 weeks gestation presented with vaginal bleeding. After initial history and physical examination, a bedside US was performed. The EP noted the abnormal appearance of the fetal cranium and anencephaly was suspected. This finding was confirmed by a consultative high-resolution fetal US. Making the diagnosis at the point of care allowed earlier detection and more comprehensive maternal counseling about pregnancy options. This particular patient underwent elective abortion which was able to be performed at an earlier gestation, thus decreasing maternal risk. If this diagnosis would not have been recognized by the EP at the point of care, it may not have been diagnosed until the second trimester, and lower-risk maternal options would not have been available. PMID:27429697

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

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    John W. Hall IV

    2016-06-01

    Full Text Available Background Early pregnancy complaints in emergency medicine are common. Emergency physicians (EP increasingly employ ultrasound (US in the evaluation of these complaints. As a result, it is likely that rare and important diagnoses will be encountered. We report a case of fetal anencephaly diagnosed by bedside emergency US in a patient presenting with first-trimester vaginal bleeding. Case Report A 33-year-old patient at 10 weeks gestation presented with vaginal bleeding. After initial history and physical examination, a bedside US was performed. The EP noted the abnormal appearance of the fetal cranium and anencephaly was suspected. This finding was confirmed by a consultative high-resolution fetal US. Making the diagnosis at the point of care allowed earlier detection and more comprehensive maternal counseling about pregnancy options. This particular patient underwent elective abortion which was able to be performed at an earlier gestation, thus decreasing maternal risk. If this diagnosis would not have been recognized by the EP at the point of care, it may not have been diagnosed until the second trimester, and lower-risk maternal options would not have been available. [West J Emerg Med. 2016;17(4460-463.

  9. Recurrent anencephaly: a case report and examination of the VANGL1 and FOXN1 genes.

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    Sergi, Consolato; Gekas, Jean; Kamnasaran, Deepak

    2013-07-01

    We report a new and rare case of recurrent anencephaly in a family with no other apparent abnormalities. The karyotypes of the family and all affected subjects were normal. Thorough mutational analyses of VANGL1 of chromosome 1p13.1 and FOXN1 of chromosome 17q11-q12, genes that are associated with phenotypes of the anencephaly spectrum, unfortunately did not disclose any DNA variations in an affected fetus of this family. The etiology of recurrent anencephaly in this family is therefore due to mutations in genes yet to be discovered, perhaps of the planar cell polarity pathway, or to possible environmental gestational factors during development.

  10. Partial duplication 2p as the sole abnormality in two cases with anencephaly.

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    Thangavelu, Maya; Frolich, Gary; Rogers, David

    2004-01-15

    Anencephaly/NTD has been observed in aneuploid and non-aneuploid individuals. We present two cases of anencephaly diagnosed prenatally with partial duplication of the short arm of chromosome 2 as the sole abnormality. The absence of aneuploidy involving other regions of the genome in these cases, further substantiates suggestions of the existence of a gene or genes on the short arm of chromosome 2 critical in the development of the central nervous system.

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

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    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.

  12. Spina bifida and anencephaly prevalence--United States, 1991-2001.

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    Mathews, T J; Honein, Margaret A; Erickson, J David

    2002-09-13

    Spina bifida and anencephaly are serious birth defects. To reduce the occurrence of these birth defects, the Food and Drug Administration authorized the fortification of all enriched cereal grain products with folic acid in March 1996, with compliance mandatory by January 1998. This report reviews data reported to CDC's National Center for Health Statistics (NCHS) regarding spina bifida and anencephaly prevalence for live births in the United States during 1991-2001. Since 1989, NCHS has compiled birth defect data from checkboxes that appear on birth certificates. For consistency in trends, this report uses data for 1991-2001 from all U.S. reporting areas except Maryland, New Mexico, and New York. Data for 2001 are preliminary. During 1996-2001, a 23% decline occurred in neural tube defects (spina bifida and anencephaly combined). Spina bifida declined 24% during this period, and anencephaly declined 21%. The United States has experienced declines in spina bifida and anencephaly cases since folic acid fortification of all enriched cereal grain products. The observed declines have translated into approximately 920 infants being born without these serious defects each year. Continued monitoring of the occurrence of spina bifida and anencephaly will be necessary to evaluate the effectiveness of folic acid fortification.

  13. Atelencephalic microcephaly: craniofacial anatomy and morphologic comparisons with holoprosencephaly and anencephaly.

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    Siebert, J R; Kokich, V G; Warkany, J; Lemire, R J

    1987-12-01

    This is the first detailed report of the craniofacial anatomy of atelencephaly. Comparisons were made with a control specimen and others with holoprosencephaly, anencephaly, and anencephaly with holoprosencephalic facial features. In the atelencephalic fetus, severe microcephaly, flattened calvaria, and partial synostosis of the metopic suture were apparent. The cranial fossae were much smaller than usual; lesser wings of the sphenoid were folded into a rounded basal mass. Facial features were pronounced, and orbits were hyperteloric, lowset, and rounded. Ethmoidal cartilages, nasal bones, and maxillary structures were distorted and elongated. The secondary palate was displaced inferiorly and cleft. Because major components of the craniofacial complex were generally present, although misshapen, changes in the atelencephalic skull seem to be deformations rather than malformations. Differences in the cranial morphology of associated disorders--holoprosencephaly and anencephaly--can be construed as aberrations of separate developmental fields. Relationships between atelencephaly and these fields are unclear.

  14. A homozygous mutation in TRIM36 causes autosomal recessive anencephaly in an Indian family.

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    Singh, Nivedita; Kumble Bhat, Vishwanath; Tiwari, Ankana; Kodaganur, Srinivas G; Tontanahal, Sagar J; Sarda, Astha; Malini, K V; Kumar, Arun

    2017-01-13

    Anencephaly is characterized by the absence of brain tissues and cranium. During primary neurulation stage of the embryo, the rostral part of the neural pore fails to close, leading to anencephaly. Anencephaly shows a heterogeneous etiology, ranging from environmental to genetic causes. The autosomal recessive inheritance of anencephaly has been reported in several populations. In this study, we employed whole-exome sequencing and identified a homozygous missense mutation c.1522C>A (p.Pro508Thr) in the TRIM36 gene as the cause of autosomal recessive anencephaly (APH) in an Indian family. The TRIM36 gene is expressed in the developing brain, suggesting a role in neurogenesis. In silco analysis showed that proline at codon position 508 is highly conserved in 26 vertebrate species, and the mutation is predicted to affect the conformation of the B30.2/SPRY domain of TRIM36. Both in vitro and in vivo results showed that the mutation renders the TRIM36 protein less stable. TRIM36 is known to associate with microtubules. Transient expression of the mutant TRIM36 in HeLa and LN229 cells resulted in microtubule disruption, disorganized spindles, loosely arranged chromosomes, multiple spindles, abnormal cytokinesis, reduced cell proliferation and increased apoptosis as compared to cells transfected with its wild-type counterpart. The siRNA knock down of TRIM36 in HeLa and LN229 cells also led to reduced cell proliferation and increased apoptosis. We suggest that microtubule disruption and disorganized spindles mediated by mutant TRIM36 affect neural cell proliferation during neural tube formation, leading to anencephaly.

  15. Characteristics of fetuses evaluated due to suspected anencephaly: a population-based cohort study in southern Brazil

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    Emanuele Pelizzari

    Full Text Available CONTEXT AND OBJECTIVE: Anencephaly is considered to be the most common type of neural tube defect. Our aim was to assess the clinical and gestational features of a cohort of fetuses with suspected anencephaly. DESIGN AND SETTING: Population-based retrospective cohort study in a referral hospital in southern Brazil. METHODS: The sample consisted of fetuses referred due to suspected anencephaly, to the Fetal Medicine Service of Hospital Materno Infantil Presidente Vargas, between January 2005 and September 2013. Clinical, radiological, pathological and survival data were gathered. RESULTS: Our sample was composed of 29 fetuses. The diagnosis of suspected anencephaly was made on average at 21.3 weeks of gestation. Seven fetuses had malformations that affected other organs, and these included oral clefts (n = 4 and congenital heart defects (n = 2. In 16 cases, there was termination of pregnancy (n = 12 or intrauterine death (n = 4. Regarding those who were born alive (n = 13, all of them died in the first week of life. After postnatal evaluation, the diagnosis of anencephaly was confirmed in 22 cases (75.9%. Other conditions included amniotic band disruption complex (6.9%, microhydranencephaly (6.9%, merocrania (3.4% and holoprosencephaly (3.4%. CONCLUSIONS: Different conditions involving the cranial vault may be confused with anencephaly, as seen in our sample. However, these conditions also seem to have a poor prognosis. It seems that folic acid supplementation is not being properly performed.

  16. [Anencephaly: the magnitude of the judicial authorization among medical doctors in Brazil].

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    Diniz, Debora; Penalva, Janaína; Faúndes, Aníbal; Rosas, Cristião

    2009-10-01

    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.

  17. Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray.

    Science.gov (United States)

    Ceylaner, S; Ceylaner, G; Altun, M; Coşkun, A; Danisman, N

    2009-01-01

    We report here a female fetus with anencephaly, omphalocele and unilateral radial aplasia. The combination of two of these three malformations were reported in a number of patients diagnosed as Gershoni-Barush syndrome, ORR phenotype, VATER association, Schisis association, OEIS complex, Schinzel phocomelia syndrome and Acalvaria but they have not been reported all together in the same patient up to date. We hypothesize that, some or all these syndromes given above may be related etiologically.

  18. "Hugging sisters": thoracoomphalopagus with anencephaly confirmed by three-dimensional ultrasonography at 9 weeks of gestation.

    Science.gov (United States)

    Shim, Jae-Yoon; Joo, Da-Hye; Won, Hye-Sung; Lee, Pil Ryang; Kim, Ahm

    2011-06-01

    We describe a rare conjoined twinning at 9 weeks of gestation. We compared the results of two- and three-dimensional sonography with autopsy findings after the termination of pregnancy. These results showed a thoracoomphalopagus with a shared heart and visceral organs. Three-dimensional sonography showed anencephaly in one of the embryos. Early and accurate prenatal diagnosis of this type of conjoined twins using three-dimensional sonography is critical for both parental counseling and minimizing maternal morbidity.

  19. Klippel-Feil syndrome plus atretic meningocele in one identical twin and anencephaly in the other.

    Science.gov (United States)

    Chan, Pei-Chun; Hsieh, Wu-Shiun; Peng, Steven S F

    2003-07-01

    Klippel-Feil syndrome (KFS) is a heterogeneous entity, characterized by specific congenital anomalies of segmentation of the cervical spine. We report a case of KFS plus atretic meningocele in one identical twin and anencephaly in the other. These identical twins were both male with no chromosome defect. One of them had anencephaly diagnosed at the gestational age of 17 weeks and died soon after birth, whereas the co-twin had KFS with multiple congenital anomalies including short neck with low hairline, occipital atretic meningocele, butterfly vertebrae, hemivertebrae, cervico-thoracic scoliosis, left thumb preaxial polydactyly, and right undescended testis. He received rehabilitation during infancy and could walk at the age of 15 months. Both of these infants had preaxial polydactyly, which is an uncommon anomaly associated with KFS. In conclusion, iniencephaly and anencephaly are probably the extreme manifestations of KFS rather than different dysraphisms. Prompt clinical suspicion with early diagnostic imaging for spine lesions and occult opening of neural tube is mandatory for further intervention and rehabilitation.

  20. The prevalence and predictors of anencephaly and spina bifida in Texas.

    Science.gov (United States)

    Canfield, Mark A; Marengo, Lisa; Ramadhani, Tunu A; Suarez, Lucina; Brender, Jean D; Scheuerle, Angela

    2009-01-01

    Texas shares a 1255-mile border with Mexico and encompasses a variety of ecosystems, industries and other potential environmental exposures. The Texas Birth Defects Registry is an active surveillance system which covers all pregnancy outcomes (livebirths, fetal deaths and elective pregnancy terminations). This study describes the occurrence and the predictors of neural tube defects (anencephaly and spina bifida) in Texas between 1999 and 2003. Birth prevalence, crude and adjusted prevalence ratios and 95% confidence intervals were calculated using Poisson regression, for each defect, by fetal/infant sex, delivery year and maternal sociodemographic characteristics. Among approximately 1.8 million livebirths, a total of 1157 neural tube defects cases were ascertained by the Registry, resulting in an overall prevalence of 6.33 cases per 10 000 livebirths. The prevalences of anencephaly and spina bifida were 2.81 and 3.52 per 10 000 livebirths respectively. Prevalences of both defects were highest in Hispanics, among mothers living along the border with Mexico, among women of higher parity and among mothers who were 40+ years of age. In addition, the prevalence of each defect was higher among women with no record of prenatal care and among women with less than 7 years of education. Hispanic ethnicity was an important predictor for anencephaly, along with sex, maternal age, parity and border residence. However, only border residence and delivery year were significant predictors for spina bifida.

  1. Methylenetetrahydrofolate reductase gene polymorphisms and the risk of anencephaly in Mexico.

    Science.gov (United States)

    Muñoz, Julia Blanco; Lacasaña, Marina; Cavazos, Ricardo García; Borja-Aburto, Victor Hugo; Galavíz-Hernández, Carlos; Garduño, Clemente Aguilar

    2007-06-01

    The precise etiology of neural tube defects (NTDs) is not known. There is some evidence that mutations in MTHFR gene provide susceptibility to NTDs in some populations; however, other studies have not found this association. One of the problems with previous studies is that they treat NTDs as a homogeneous group, when specific defects could have different etiologies. We conducted a case-control study specifically for anencephaly, based on the Mexican Epidemiological Surveillance System of Neural Tube Defects to evaluate its association with maternal MTHFR 677C > T and 1298A > C polymorphisms, in three states with high frequencies of NTDs: Puebla, Estado de México and Guerrero. We interviewed and collected blood samples from 118 case mothers and 112 control mothers. The questionnaire included information on their reproductive history, socioeconomic characteristics, prenatal care, tobacco and alcohol use, presence of chronic diseases, acute illnesses and fever, consumption of multivitamins and drugs during the periconceptional period. After adjusting for potential confounders, the risk from the mutated homozygous mothers (677TT genotype) was significantly higher than that from mothers with 677CC genotype (OR 3.16, 95% CI 1.29-7.73); in the case of the heterozygous mothers, an increased risk of anencephaly was observed, even though this was not statistically significant (OR 1.81 95% CI 0.78-4.25). The association found between maternal 677TT genotype and anencephaly and the elevated presence of the 677T allele among Mexican women of fertile age urges intensifying folic acid supplementation which has proved to modify this genetic risk in other populations.

  2. Monoamniotic twins with one fetal anencephaly and cord entanglement diagnosed with three dimensional ultrasound at 14 weeks of gestation.

    Science.gov (United States)

    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 diagnosed with cord entanglement by three-dimensional ultrasound at 14 weeks of gestation, and now report it along with a literature review.

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

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    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.

  4. Monochorionic and dichorionic twin pregnancies discordant for fetal anencephaly: a systematic review of prenatal management options.

    Science.gov (United States)

    Lust, Annelies; De Catte, Luc; Lewi, Liesbeth; Deprest, Jan; Loquet, Philippe; Devlieger, Roland

    2008-04-01

    The aim of this study was to evaluate the effect of selective feticide (SF) compared to expectant management (EM) on perinatal outcome in dichorionic and monochorionic twins discordant for anencephaly. For this purpose, we conducted a systematic review of literature and added ten unpublished cases. As a result, we found that in dichorionic twins, mean gestational age (GA) at birth in the SF group was 38.0 weeks versus 34.9 weeks (P = 0.0002). Mean birth weight was 2922 g in the SF group versus 2474 g (P = 0.03). In monochorionic twins, mean GA at birth was 35.2 weeks versus 32.7 weeks (P = 0.1). Mean birth weight was 2711 g versus 1667 g (P = 0.0001). We conclude that while SF does not reduce perinatal mortality, it does result in significantly longer gestations and higher birth weight, and appears to be the management of choice in dichorionic twins discordant for anencephaly. In monochorionic twins, SF also increases birth weight, but in view of the complexity of this group, no clear recommendations can be made.

  5. Anencefalia e morte cerebral (neurológica Anencephaly and brain death

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    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

  6. Anencephaly: pitfalls in pregnancy outcome and relevance of the prenatal exam.

    Science.gov (United States)

    Tica, V I; Beghim, M; Tica, Irina; Zaher, M; Beghim, Esra

    2009-01-01

    Anencephaly is an embryological malformation of the central nervous system, invariable lethal, characterized by the absence of the brain and cranial vault and by other defects of the cranial structures. It has no cure but it can be detected during the pregnancy with ultrasonography. We present a rare case of a 15-year-old primipara, with no prenatal care, who delivered at 37 weeks an anencephalous female newborn. Ultrasonography avoided the confusion with a breach presentation, which, in conjunction with the prematurity, premature rupture of membranes and the young maternal age would have favored the cesarean section. The rarity of the case is increased by the singularity of the malformation. The importance of the prenatal care and genetic workup are stressed out in this embryologic pathology.

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

    Science.gov (United States)

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

    1992-01-01

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

  8. 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.

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

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    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

  10. [Anencephaly associated with uterine rupture during induced abortion. A clinical case].

    Science.gov (United States)

    Calleri, L; Gallello, D; Taccani, C; Porcelli, A

    1997-01-01

    A 32 year old woman, at the 23rd week + 3 days gestational age, was admitted to our institute for a therapeutic abortion decided because of an ultrasonographic diagnosis of anencephaly. This woman had already had a cesarean section caused by acute fetal stress during labor in 1992. We decided for a labor induction with prostaglandin analogues: we used gemeprost vaginal tablets and after injectable sulproste. During this treatment we observed increasing abdominal pain, slight genital haemorrhage, vanishing HFR, an elevated reduction of haemoglobin (7 g): so, we thought of a uterine rupture. During the intervention, we observed a conspicuous haemoperitonei caused by a complete yielding of the old hysterotomic suture at the cervix border; the placenta and its adnexals get out from the uterine breach and the fetus fluctuated in the abdominal cavity, also enclosed in his unruptured amniotic fluid. Post-intervention course was satisfactory and we discharged the patient during the 7th admission day. Our personal experience shows the importance of a careful monitoring of maternal and fetal conditions during labor induction, particularly in those cases in which a woman was already submitted to a hysterotomy, and especially when the use of different types of prostaglandin drugs may be necessary.

  11. A Unique Case of Eosinophilic Pancreatitis and Anencephaly in the Fetus of a Type I Diabetic Mother

    Science.gov (United States)

    George, Elias R.; Patel, Shirali S.; Sen, Priyanka; Sule, Norbert

    2011-01-01

    Pancreatic infiltration with eosinophils is an uncommon finding with numerous etiologies. While two rare cases of eosinophilic pancreatitis in infants born to Type I diabetic mothers have been reported once in the English literature and once in the French literature, we present the additional finding of anencephaly in a 34 week old fetus. Although the pancreas was grossly unremarkable, histological inspection demonstrated an eosinophilic infiltrate in the fibrous septae and islets of Langerhans along with hypertrophy and hyperplasia of the pancreatic islets. PMID:27942336

  12. Monoamniotic twins discordant for anencephaly managed conservatively with good outcomes: two case reports and a review of the literature.

    Science.gov (United States)

    Lim, K I; Dy, C; Pugash, D; Williams, K P

    2005-08-01

    Monoamniotic twin pregnancy discordant for anencephaly (MATDA) is a rare occurrence with only seven prior reported cases. Selective termination has been advocated in managing discordant monoamniotic twins. We report two cases managed expectantly with good outcomes and review other previously reported cases. The first case was a primigravid woman diagnosed with MATDA at 18 weeks. She was managed expectantly until 32 + 5 weeks when a Cesarean section was performed for preterm labor. The surviving female infant weighed 1610 g. The second case was a multigravid woman who was diagnosed with MATDA at 17 + 5 weeks and was managed as an outpatient. An emergency Cesarean section was performed at 31 weeks for non-reassuring monitoring and the surviving male infant weighed 1790 g. In both cases, the survivors were discharged home in good condition. A review of these two cases and those in the literature suggests that expectant management should be considered among management options for this rare condition.

  13. FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus.

    Science.gov (United States)

    Amorosi, S; D'Armiento, M; Calcagno, G; Russo, I; Adriani, M; Christiano, A M; Weiner, L; Brissette, J L; Pignata, C

    2008-04-01

    The forkhead, Fox, gene family comprises a diverse group of 'winged-helix' transcription factors that play important roles in development, metabolism, cancer and aging. Recently, several forkhead genes have been demonstrated to play critical roles in lymphocyte development and effector functions. Alterations of the FOXN1 gene in both mice and humans result in a severe combined immunodeficiency caused by an intrinsic defect of the thymus associated with congenital alopecia (Nude/severe combined immunodeficiency phenotype). FOXN1 is a member of the class of proteins involved in the development and differentiation of the central nervous system. We identified a human fetus homozygous for a mutation in FOXN1 gene who lacked the thymus and also had abnormal skin, anencephaly and spina bifida. Moreover, we found that FOXN1 gene is expressed in mouse developing choroid plexus. These observations suggest that FOXN1 may be involved in neurulation in humans.

  14. 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

    2014-02-20

    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.

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

    Science.gov (United States)

    2004-05-07

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

  16. Sequential observations of exencephaly and subsequent morphological changes by mouse exo utero development system: analysis of the mechanism of transformation from exencephaly to anencephaly.

    Science.gov (United States)

    Matsumoto, Akihiro; Hatta, Toshihisa; Moriyama, Kenji; Otani, Hiroki

    2002-01-01

    Anencephaly has been suggested to develop from exencephaly; however, there is little direct experimental evidence to support this, and the mechanism of transformation remains unclear. We examined this theory using the exo utero development system that allows direct and sequential observations of mid- to late-gestation mouse embryos. We observed the exencephaly induced by 5-azacytidine at embryonic day 13.5 (E13.5), let the embryos develop exo utero until E18.5, and re-observed the same embryos at E18.5. We confirmed several cases of transformation from exencephaly to anencephaly. However, in many cases, the exencephalic brain tissue was preserved with more or less reduction during this period. To analyze the transformation patterns, we classified the exencephaly by size and shape of the exencephalic tissue into several types at E13.5 and E18.5. It was found that the transformation of exencephalic tissue was not simply size-dependent, and all cases of anencephaly at E18.5 resulted from embryos with a large amount of exencephalic tissue at E13.5. Microscopic observation showed the configuration of exencephaly at E13.5, frequent hemorrhaging and detachment of the neural plate from surface ectoderm in the exencephalic head at E15.5, and multiple modes of reduction in the exencephalic tissue at E18.5. From observations of the vasculature, altered distribution patterns of vessels were identified in the exencephalic head. These findings suggest that overgrowth of the exencephalic neural tissue causes the altered distribution patterns of vessels, subsequent peripheral circulatory failure and/or hemorrhaging in various parts of the exencephalic head, leading to the multiple modes of tissue reduction during transformation from exencephaly to anencephaly.

  17. The birth of a monstrous child throughout history: the example of anencephaly between the Egyptian New Empire and the 21st century.

    Science.gov (United States)

    Fischer, Jean-Louis; Barbet, Jacques Patrick

    2014-01-01

    Anencephaly is of special interest for the historical study of human behaviour after the birth of a monstrous child. Examples of anencephalic human births from Egyptian Antiquity to the present time allow us to create a history of teratology, revealing hiatuses in the medical and scientific interpretation of monstrosity that contrast to a relative continuity in the imaginary processes that accompany the birth of a monstrous child.

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

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    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.

  19. A special case of anencephaly in an early-born baby with an exagerated prognastic face: further example for human devolution.

    Science.gov (United States)

    Tan, Uner

    2008-06-01

    A 7-month-old baby was born in a village near Iskenderun (Turkey) where "Unertan Syndrome" with quadrupedality and primitive cognitive abilities was discovered. The clinical diagnosis was anencephaly. However, his head did not show the classical symptoms of anencephaly because it was covered with bony structures. The baby has an ape-like, prognasthic head with low-set ears and flapped ear flaps. The other parts of the body were similar to humans with broad shoulders and a short neck. This may be a further example of human devolution, which was first reported by Tan (2005, 2006a,b,c). A genetic defect affecting the head development including brain may be responsible for the reappearance of the ape-like head in a human being. This human devolution, or evolution in reverse, suggests that the same gene or gene-pool as well as the interactions between genes may be responsible for the transition from our ancestors into human beings with regard to an orthognasthic head, and brain development.

  20. A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations.

    Science.gov (United States)

    Alghamdi, Malak A; Ziermann, Janine M; Gregg, Lydia; Diogo, Rui

    2017-03-07

    Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in which both phenomena occur together, i.e. about craniorachischisis. Here we provide a detailed report on the musculoskeletal structures of a fetus with craniorachischisis, as well as comparisons with the few descriptions for anencephaly and with musculoskeletal anomalies found in other congenital malformations. We focused in particular on the comparison with trisomies 13, 18, and 21 because neural tube defects have been associated with such chromosomal defects. Our results showed that many of the defects found in the fetus with craniorachischisis are similar not only to anomalies previously described in the available works on musculoskeletal phenotypes seen in fetuses with anencephaly and spina bifida, but also to a wide range of other different conditions/syndromes including trisomies 13, 18 and 21, and cyclopia. The fact that similar anomalies are seen commonly not only in a wide range of different syndromes, but also as variants of the normal human population and as the 'normal' phenotype of other animals, supports Pere Alberch's unfortunately named idea of a 'logic of monsters'. That is, it supports the idea that development is so constrained that both in 'normal' and abnormal development one sees certain outcomes being produced again and again because ontogenetic constraints only allow a few possible outcomes, thus also leading to cases where the anatomical defects of some organisms are similar to the 'normal' phenotype of other organisms. In fact, this applies not only to specific anomalies but also to general patterns, such as the fact that in pathological conditions affecting different regions of the body, one consistently sees more defects on the upper limbs than on the lower limbs. Such general patterns are, again, seen in the fetus examined for this study, which had 29 muscle anomalies on the right

  1. Prenatal management of anencephaly.

    Science.gov (United States)

    Cook, Rebecca J; Erdman, Joanna N; Hevia, Martin; Dickens, Bernard M

    2008-09-01

    About a third of anencephalic fetuses are born alive, but they are not conscious or viable, and soon die. This neural tube defect can be limited by dietary consumption of foliates, and detected prenatally by ultrasound and other means. Many laws permit abortion, on this indication or on the effects of pregnancy and prospects of delivery on a woman's physical or mental health. However, abortion is limited under some legal systems, particularly in South America. To avoid criminal liability, physicians will not terminate pregnancies, by induced birth or abortion, without prior judicial approval. Argentinian courts have developed means to resolve these cases, but responses of Brazilian courts are less clear. Ethical concerns relate to late-term abortion, meaning after the point of fetal viability, but since anencephalic fetuses are nonviable, many ethical concerns are overcome. Professional guidance is provided by several professional and institutional codes on management of anencephalic pregnancies.

  2. Genetics Home Reference: anencephaly

    Science.gov (United States)

    ... in offsprings: evidence from 25 case-control studies. PLoS One. 2012;7(10):e41689. doi: 10.1371/journal. ... defects: a meta-analysis of the published literature. PLoS One. 2013 Apr 4;8(4):e59570. doi: 10. ...

  3. Facts about Anencephaly

    Science.gov (United States)

    ... brain and skull. It is a type of neural tube defect (NTD). As the neural tube forms and closes, it helps form the baby’s brain and skull (upper part of the neural tube), spinal cord, and back bones (lower part of ...

  4. 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.

  5. Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality).

    Science.gov (United States)

    Mansfield, C; Hopfer, S; Marteau, T M

    1999-09-01

    The aims of this systematic literature review are to estimate termination rates after prenatal diagnosis of one of five conditions: Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes, and to determine the extent to which rates vary across conditions and with year of publication. Papers were included if they reported (i) numbers of prenatally diagnosed conditions that were terminated, (ii) at least five cases diagnosed with one of the five specified conditions, and (iii) were published between 1980 and 1998. 20 papers were found which met the inclusion criteria. Termination rates varied across conditions. They were highest following a prenatal diagnosis of Down syndrome (92 per cent; CI: 91 per cent to 93 per cent) and lowest following diagnosis of Klinefelter syndrome (58 per cent; CI: 50 per cent to 66 per cent). Where comparisons could be made, termination rates were similar in the 1990s to those reported in the 1980s.

  6. Postnatal in-vivo MRI findings in anencephaly.

    Science.gov (United States)

    Poretti, A; Meoded, A; Ceritoglu, E; Boltshauser, E; Huisman, T A G M

    2010-12-01

    We report on the MRI findings of an anencephalic infant who survived 10 weeks postnatally. MRI showed absence of the cranial vault, all supratentorial structures, and the cerebellum. A brainstem primordium without pontine prominence was present. The brainstem was surrounded by the area cerebrovasculosa. The absence of a pontine prominence in an anencephalic infant without cerebellar tissue supports the hypothesis that absent pontine prominence is found in children with a prenatal loss of cerebellar tissue.

  7. [From anencephaly to the myth of headless men].

    Science.gov (United States)

    Stahl, André; Tourame, Pierre

    2011-01-01

    Among ancient fanciful creatures, men without a head have often been represented since the end of the Middle-ages, especially during the Renaissance and until the 18th century. They are probably inspired from new-born anencephalic infants.

  8. The Histological Observation of Liver of Anencephaly Fetus%无脑儿肝脏的组织学观察

    Institute of Scientific and Technical Information of China (English)

    刘江舟; 罗文俊; 雷天晓; 周德卫

    2006-01-01

    目的:探讨无脑儿肝脏结构的变化,为畸形胎儿肝脏发育研究提供形态学方面的资料.方法:用HE染色,通过光学显微镜观察无脑儿肝脏结构.结果:无脑儿肝脏的肝细胞和肝血窦出现异常.结论:胎儿神经系统的发育与肝脏的发育有一定联系.

  9. Acrania-anencephaly associated with hypospadias. Prenatal ultrasound and MRI diagnosis and molecular folate metabolism pathway analysis.

    Science.gov (United States)

    Tonni, Gabriele; Centini, Giovanni; Bonasoni, Maria Paola; Ventura, Alessandro; Pattacini, Pierpaolo; Cavalli, Pietro

    2012-12-01

    Acrania may occur as a single isolated malformation or associated with extracranial defects. Hypospadias is one of the most common congenital abnormalities of the genitalia frequently missed on prenatal sonograms. Second trimester two- and three-dimensional ultrasound and MRI diagnosis with necropsy and folate metabolism pathway analysis. The mechanisms leading to closure of both neural and urethral tubes, are far from being demonstrated, and molecular studies of this very rare association are lacking although it might be based on a common genetic mechanism, leading to a disturbed development pathway at the molecular level.

  10. 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.

  11. 无脑畸形合并广泛脊髓裂1例%One Case of Anencephaly Combined with Widespread Myeloschisis

    Institute of Scientific and Technical Information of China (English)

    陈远强; 张荔

    2007-01-01

    2003年8月,我校解剖学教研室收到甘孜藏族自治州人民医院妇产科一藏族孕妇产下的无脑畸形合并广泛脊髓裂女死婴一例.因属四川甘孜藏区首次发现,现报道如下.

  12. FEATURES OF SEX DISTRIBUTION OF ANENCEPHALY IN CHINA%中国人无脑畸形的性别分布特征

    Institute of Scientific and Technical Information of China (English)

    代礼; 吴艳乔; 李艳华; 朱军; 王艳萍; 梁娟

    2002-01-01

    目的:利用1987~1992年间中国出生缺陷监测网收集的资料,描述围产儿无脑畸形的性别分布特征.方法:采用以医院为基础的监测方法收集资料.调查对象为孕28周到产后7天住院分娩的围产儿,包括活产、死胎和死产.分析指标为相度危险度RR(男/女)和畸形性别比SR(男/女).结果:共收集围产儿4489692例,男2336976例,女2150834例;无脑畸形6256例,其中男2012例,女4129例,性别比为0.49.中国人围产儿无脑畸形发生率为13.93/万,男性为8.61/万,女性为19.20/万,RR为0.45.无脑畸形性别比和RR在城乡、南北方、单发和多发畸形之间有显著差异.结论:中国围产儿无脑畸形发生以女性居多,女性胎儿对无脑畸形的遗传和环境危险因素比男性易感.

  13. Congenital anencephaly and schizencephaly of both brains of Twins%双胎双脑先天性无脑及脑裂畸形

    Institute of Scientific and Technical Information of China (English)

    蒋忠明

    2005-01-01

    多胎发生的畸形往往比单胎多,神经系统的畸形约占全部身体畸形的一半以上。脑部的畸形并不少见,但是先天性脑裂畸形发病情况据手边国内文献末见有报道,我院遇到一例.现报道如下。

  14. What Are the Treatments for Neural Tube Defects?

    Science.gov (United States)

    ... the long term. There is no treatment for anencephaly or iniencephaly. 2 These conditions are usually fatal ... for Disease Control and Prevention. (2001). Facts about anencephaly. Retrieved on July 23, 2012, from http://www. ...

  15. Taking Care of Yourself Before Pregnancy

    Science.gov (United States)

    ... serious neural tube defects (NTDs): spina bifida and anencephaly. Both occur very early in pregnancy (as early ... before many women even know they’re pregnant.Anencephaly is when a baby is born without the ...

  16. 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.

  17. 超声诊断11~14孕周露脑-无脑畸形序列的临床意义%Detection of Exencephaly and Anencephaly Sequence with Ultrasound During 11-14 Weeks

    Institute of Scientific and Technical Information of China (English)

    王慧芳; 林琪; 刘涛; 臧玲; 熊奕

    2007-01-01

    目的 探讨11~14孕周超声诊断露脑-无脑畸形序列的价值,避免诊断中的潜在陷阱.方法 回顾性分析2004年1月~2006年9月11~14孕周超声诊断的6例露脑畸形、2无脑畸形的胎儿资料,并与同期中孕期超声诊断并经引产证实的13例无脑畸形的结果进行比较,重新审定11~14孕周的超声诊断结果,建立孕早期超声诊断标准.结果 11~14孕周超声诊断的6例露脑畸形,均经引产证实;无脑畸形2例,引产证实1例为露脑畸形,1例为无脑畸形.中孕期超声诊断及引产证实的13例无脑畸形,其中3例在11~14孕周超声检查时未发现异常.结论 超声能在11~14孕周诊断露脑-无脑畸形序列.胎儿头部冠状切面和横切面未见钙化的额顶骨是诊断的要点.大脑组织是否残存,是鉴别露脑畸形和无脑畸形的关键.

  18. 78 FR 14553 - Proposed Data Collections Submitted for Public Comment and Recommendations

    Science.gov (United States)

    2013-03-06

    ... defects (spina bifida, anencephaly); muscular dystrophy; fragile X; deep vein thrombosis/pulmonary... disabilities; helping children to develop and reach their potential for full, productive living; and...

  19. Craniospinal rachischisis with multiple anomalies in an anencephalic fetus: A rare case report

    Directory of Open Access Journals (Sweden)

    Hema Basappa Bannur

    2014-01-01

    Full Text Available Neural tube defects (NTDs are the most common malformations accounting for 0.5-1.3 cases/1000 live births with multifactorial etiology. Anencephaly and craniospinal rachischisis are open NTDs. Associated malformations are noted in anencephaly, indicating some etiological heterogeneity. Here, we report an anencephalic fetus with craniospinal rachischisis and multiple other anomalies.

  20. 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)

  1. Birth Defects Data and Statistics

    Science.gov (United States)

    ... or without cleft palate Limb deficiency Trisomy 18 (Edwards syndrome) Hypospadias Asian, Non-Hispanic Spina bifida without anencephaly ... Gastroschisis Omphalocele Black, Non-Hispanic Encephalocele Trisomy 18 (Edwards syndrome) Aortic valve stenosis Cleft lip with or without ...

  2. Neural Tube Defects

    Science.gov (United States)

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

  3. Amniocentesis

    Science.gov (United States)

    ... the baby, including: Anencephaly (when the baby is missing a large portion of the brain) Down syndrome Rare metabolic disorders that are passed down through families Other genetic problems, like trisomy 18

  4. Ultrasound in pregnancy (image)

    Science.gov (United States)

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

  5. 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

    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...... 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...

  6. 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.

  7. Ring chromosome 13

    DEFF Research Database (Denmark)

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

    1992-01-01

    A stillborn male child with anencephaly and multiple malformations was found to have the karyotype 46,XY,r(13) (p11q21.1). The breakpoint at 13q21.1, determined by high resolution banding, is the most proximal breakpoint ever reported in patients with ring chromosome 13. In situ hybridisation...

  8. The Risk of Specific Congenital Anomalies in Relation to Newer Antiepileptic Drugs

    DEFF Research Database (Denmark)

    de Jong, Josta; Garne, Ester; de Jong-van den Berg, Lolkje T.W.;

    2016-01-01

    anomalies than the other newer AEDs. Four signals were found. The signals for associations between topiramate and cleft lip with/without cleft palate and hypospadias were considered strong. Associations between lamotrigine and anencephaly and transposition of great vessels were found within one study...

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

    Science.gov (United States)

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

    2005-06-01

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

  10. Secondary Myelitis in Dermal Sinus Causing Paraplegia in a Child with Previously Normal Neurological Function

    NARCIS (Netherlands)

    Rashid, S.; Kinabo, G.; Kellogg, M.; Howlett, W.P.; Dekker, M.C.J.

    2016-01-01

    Neural tube defects result from failure of neural tube fusion during early embryogenesis, the fourth week after conception. The spectrum of severity is not uniform across the various forms of this congenital anomaly as certain presentations are not compatible with extrauterine life (anencephaly) whi

  11. 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…

  12. 45 CFR Appendix C to Part 84 - Guidelines Relating to Health Care for Handicapped Infants

    Science.gov (United States)

    2010-10-01

    ... premature and low birth weight infant on the grounds of reasonable medical judgments concerning the... section 504. (ii) Withholding of treatment for medically correctable physical anomalies in children born... treatment for an infant born with anencephaly, who will inevitably die within a short period of time,...

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

    DEFF Research Database (Denmark)

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

    1998-01-01

    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...

  14. Neural tube defects and associated anomalies in a fetal and perinatal autopsy series

    DEFF Research Database (Denmark)

    Nielsen, Ljudmilla A G; Maroun, Lisa Leth; Broholm, Helle

    2006-01-01

    morphological anomalies, and organ weights. Organ weights were evaluated according to new fetal autopsy standards and grouped as low, normal or high. Ninety-seven NTD cases were found (4.9%): Spina bifida (38 cases), cephalocele (17 cases) and anencephaly (42 cases). 63% of NTD cases had associated morphologic...

  15. Maternal Antenatal Bereavement and Neural Tube Defect in Live-Born Offspring

    DEFF Research Database (Denmark)

    Ingstrup, Katja Glejsted; Wu, Chun Sen; Olsen, Jørn

    2016-01-01

    -up, 1,115 children were diagnosed with any NTDs: spina bifida (n = 889), anencephaly (n = 85) and encephalocele (n = 164). And 23 children were diagnosed with two types of NTDs. Overall, when comparing bereaved mothers to non-bereaved mothers, no significant increased prevalence of NTDs in the offspring...

  16. 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…

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

    Science.gov (United States)

    Vieira, Alexandre R

    2004-01-15

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

  18. Newborn with meroanencephaly: Surviving all odds

    Directory of Open Access Journals (Sweden)

    Iraj Alam Khan

    2016-01-01

    Full Text Available Neural tube defects are a group of congenital anomalies of brain development that carry a significant risk of morbidity and mortality. Anencephaly is a serious form of this defect with a very poor prognosis. It can present in three forms – meroanencephaly, holoanencephaly, and craniorachischisis. Meroanencephaly is considered to be the classic form of anencephaly. It manifests as a lack of cranial vault bones and exposed dorsal neural tissue resulting from defective neural tube closure in the very early period of gestation. Antenatally, the diagnosis may be suggested by ultrasound examination and by elevated maternal alpha-fetoprotein level. Here, we describe a case of meroanencephaly who was discharged from the hospital in fair condition despite the life-threatening anomaly.

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

    Directory of Open Access Journals (Sweden)

    I. Abdi Rad

    2008-06-01

    Full Text Available ObjectiveNeural 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.

  20. A teratological evaluation of anticonvulsant drugs.

    Science.gov (United States)

    Lakos, P; Czeizel, E

    1977-01-01

    Reviewing the important teratological data on anticonvulsants, the Hungarian experiences are reported. In the Hungarian Congenital Malformation Register use of the anticonvulsants diazepam and phenobarbiturates during pregnancy was determined in infants delivered with cleft lip with or without cleft palate, posterior cleft palate and, as a control, anencephaly and spina bifida. The teratogenic effect of diphenyl-hydantoin was confirmed, while that of diazepam and phenobarbital was not supported.

  1. Neural tube defect surveillance and folic acid intervention--Texas-Mexico border, 1993-1998.

    Science.gov (United States)

    2000-01-14

    Neural tube defects (NTDs) are common and serious malformations that originate early in pregnancy. In the United States, approximately 4000 pregnancies each year are affected by the two most common NTDs (spina bifida and anencephaly). In 1992, the Texas Department of Health (TDH), with support from a CDC cooperative agreement, implemented the Texas Neural Tube Defect Project (TNTDP), a program of NTD surveillance and risk-reduction activities in the 14 counties that border Mexico. The project was initiated in response to an anencephaly cluster identified during 1990-1991 in Brownsville (Cameron County), Texas (1). Whether the high anencephaly rate (19.7 per 10,000 live births) was unique to Cameron County or was characteristic of the entire border was unknown. This report summarizes NTD surveillance rates for the 14 Texas-Mexico border counties for 1993-1998 and presents preliminary results of TNTDP efforts to prevent the recurrence of NTDs by providing folic acid to high-risk women. Findings indicate that the baseline rate along the border is high (13.4 per 10,000 live births) and largely reflects the rate among Hispanics (13.8). Although a longer period is needed to obtain definitive results, folic acid appears to be effective for reducing the risk for NTD recurrence in Hispanics.

  2. 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

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

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    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.

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

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    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. Secondary Myelitis in Dermal Sinus Causing Paraplegia in a Child with Previously Normal Neurological Function

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    Sakina Rashid

    2016-01-01

    Full Text Available Neural tube defects result from failure of neural tube fusion during early embryogenesis, the fourth week after conception. The spectrum of severity is not uniform across the various forms of this congenital anomaly as certain presentations are not compatible with extrauterine life (anencephaly while, on the other hand, other defects may remain undiagnosed as they are entirely asymptomatic (occult spina bifida. We report a child with previously normal neurological development, a devastating clinical course following superinfection of a subtle spina bifida defect which resulted in a flaccid paralysis below the level of the lesion and permanent neurological deficits following resolution of the acute infection and a back closure surgery.

  6. Edad materna y defectos del tubo neural: evidencia para un efecto mayor en espina bífida que anencefalia

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    Vieira, Alexandre R.; Castillo Taucher,Silvia

    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 ...

  7. Serum zinc levels in newborns with neural tube defects.

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    Golalipour, Mohammad Jafar; Mansourian, Azad Reza; Keshtkar, Abasali

    2006-09-01

    Neural tube defects (NTD) comprise of a group of congenital malformations that include spina bifida, anencephaly and encephalocele. Reports have implicated zinc deficiency as one of the causative factors of NTDs. We compared the serum zinc level of 23 newborns having neural tube defects with 35 healthy controls by spectrophotometery during 2003-2004. Zinc deficiency was documented in 43.5% of the cases and 8.6% of the controls (P = 0.002). Multivariate logistic regression analysis revealed a significant association between the presence of NTDs and zinc deficiency (OR = 8.2, 95% Cl: 1.9-34.7).

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

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    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.

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

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

    1977-02-01

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

  10. Orally administered melatonin prevents lipopolysaccharide-induced neural tube defects in mice.

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    Lin Fu

    Full Text Available Lipopolysaccharide (LPS has been associated with adverse pregnant outcomes, including fetal demise, intra-uterine growth restriction (IUGR, neural tube defects (NTDs and preterm delivery in rodent animals. Previous studies demonstrated that melatonin protected against LPS-induced fetal demise, IUGR and preterm delivery. The aim of the present study was to investigate the effects of melatonin on LPS-induced NTDs. All pregnant mice except controls were intraperitoneally injected with LPS (25 µg/kg daily from gestational day (GD8 to GD12. Some pregnant mice were orally administered with melatonin (MT, 50 mg/kg before each LPS injection. A five-day LPS injection resulted in 27.5% of fetuses with anencephaly, exencephaly or encephalomeningocele. Additional experiment showed that maternal LPS exposure significantly down-regulated placental proton-coupled folate transporter (pcft and disturbed folate transport from maternal circulation through the placentas into the fetus. Interestingly, melatonin significantly attenuated LPS-induced down-regulation of placental pcft. Moreover, melatonin markedly improved the transport of folate from maternal circulation through the placentas into the fetus. Correspondingly, orally administered melatonin reduced the incidence of LPS-induced anencephaly, exencephaly or encephalomeningocele. Taken together, these results suggest that orally administered melatonin prevents LPS-induced NTDs through alleviating LPS-induced disturbance of folate transport from maternal circulation through the placenta into the fetus.

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

    Science.gov (United States)

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

    2012-01-01

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

  12. 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.

  13. 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.

  14. 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.

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

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    Ali Sharif

    2016-01-01

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

  16. Neural tube defect and folic acid.

    Science.gov (United States)

    Wani, M A

    2000-01-01

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

  17. [Teratology "from Geoffroy Saint-Hilaire to the present"].

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    Morin, A

    1996-03-01

    Teratology, science of monsters, exists during the periods of Antiquity, Middle Ages, Renaissance, ... but its comes more precise at the XIXth century with Etienne. Geoffroy Saint Hilaire who studies several anomalies; he was interested in celosomia, cyclocephalia, anencephaly, twin monsters ... His son, Isidore Geoffroy Saint Hilaire, creates the word "Teratologie" and specifies the teratologic classification; he studies omphalosites, celosomia, hermaphrodite, twin monsters. During the XIXth century, the development of experimental embriology and teratogenesis is very important. During le XXth century the studies of morphologic teratology are specified. Famous living monsters are described; experimental teratogenese is improved; the mecanism and the etiology are more known. It is also the beguining of the teratologic surgery and of the antenatal diagnostic.

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

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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

  19. Neural tube defects: recent advances, unsolved questions, and controversies.

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    Copp, Andrew J; Stanier, Philip; Greene, Nicholas D E

    2013-08-01

    Neural tube defects are severe congenital malformations affecting around one in every 1000 pregnancies. An innovation in clinical management has come from the finding that closure of open spina bifida lesions in utero can diminish neurological dysfunction in children. Primary prevention with folic acid has been enhanced through introduction of mandatory food fortification in some countries, although not yet in the UK. Genetic predisposition accounts for most of the risk of neural tube defects, and genes that regulate folate one-carbon metabolism and planar cell polarity have been strongly implicated. The sequence of human neural tube closure events remains controversial, but studies of mouse models of neural tube defects show that anencephaly, open spina bifida, and craniorachischisis result from failure of primary neurulation, whereas skin-covered spinal dysraphism results from defective secondary neurulation. Other malformations, such as encephalocele, are likely to be postneurulation disorders.

  20. 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

    2015-11-23

    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.

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

    Science.gov (United States)

    Bos, C A; Baljet, B

    1999-12-18

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

  2. 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.

  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. 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.

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

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    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.

  6. Time trends in the prevalence and epidemiological characteristics of neural tube defects in Liaoning Province, China, 2006-2015: A population-based study.

    Science.gov (United States)

    Zhang, Tie-Ning; Gong, Ting-Ting; Chen, Yan-Ling; Wu, Qi-Jun; Zhang, Yuan; Jiang, Cheng-Zhi; Li, Jing; Li, Li-Li; Zhou, Chen; Huang, Yan-Hong

    2017-02-03

    To evaluate the time trends in the prevalence of neural tube defects and all their subtypes as well as to identify the epidemiological characteristics of these malformations documented in the Liaoning Province of northeast China from 2006 to 2015. This was a population-based observational study using data from 3,248,954 live births as well as from 6217 cases of neural tube defects, 1,600 cases of anencephaly, 2,029 cases of spina bifida, 404 cases of encephalocele, and 3,008 cases of congenital hydrocephalus from 14 cities in Liaoning Province from 2006 to 2015. All analyses were conducted using SPSS software. During the observational period, the prevalence of neural tube defects, anencephaly, spina bifida, encephalocele, and congenital hydrocephalus was 19.1, 4.9, 6.2, 1.2, and 9.3 per 10,000 live births, respectively. Significantly decreasing trends were observed in the prevalence of all these malformations except for encephalocele. Notably, relatively higher prevalence rates were found in isolated compared with non-isolated malformations, with significant differences in selected characteristics (e.g., prognosis status, gestational age, and birth weight) between isolated and non-isolated cases of these malformations. The prevalence of neural tube defects showed a downward trend in Liaoning Province from 2006 to 2015. However, more attention should be focused on non-isolated cases in the future because of the severe clinical manifestations. Future prevention efforts should be strengthened to reduce the risk of these malformations, especially the non-isolated subtype, in areas with high prevalence.

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

    Science.gov (United States)

    Ren, Ai-Guo

    2015-08-08

    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.

  8. 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.

  9. 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.

  10. 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

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

    Science.gov (United States)

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

    2007-04-01

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

  12. [Normal and pathological ultrasonography of the fetal brain].

    Science.gov (United States)

    Alvarez, H; Levi, S

    1984-01-01

    Advanced ultrasonic technology enabled the bidimensional imaging of fetal brain throughout pregnancy. The number of visible structures increases with gestational age. In order to certify the described items they were compared to similar anatomical sections available from brain specimens or an atlas of anatomy. Real-time as well as automatic compound scanning machines were used to obtain echographic images of fetal brain anatomy in utero. Many different scans were collected along three orthogonal directions: every 2 mm, with the automated compound scan and as close from each other as possible with the linear array real-time scanner. The material included 59 normal fetuses between the 15th and 40th week of gestation. Eight typical sections are made but the only structures identified are those being visible on every section obtained at the same level. Brain structures such as grey and white matter, nuclei, vessels and ventricles have different sonic properties. They are subsequently distinguishable on the ultrasonic image if the equipment is capable of detecting and showing such differences. Grey matter is more echogenic than white, choroid plexuses are very reflective as are vessel walls which also pulsate. Four horizontal sections are described in detail (Figs. 2-7). The coronal planes are demonstrated at three different levels (Figs. 8-12) and the sagittal plane is represented by Fig. 13. Thirty five structures were identified (Table 2). In the second section some brain and skull anomalies are briefly described. The principal signs of the abnormalities and possible encountered variations are listed such as cranial defects in anencephaly, acrania, encephalocele, iniencephaly; the anomaly of size and shape of head and ventricle, as in hydrocephaly and microcephaly, cystic-like- and solid-tumor lesions and Dandy Walker syndrome and hydranencephaly. Attention is drawn to possible artifacts and pitfalls in the differential diagnosis between similar looking pictures

  13. 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.

  14. IS CONSANGUINEOUS MARRIAGE RESPONSIBLE FOR CONGENITAL CARDIAC AND EXTRA-CARDIAC ANOMALIES?

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    Nutan Nalini

    2016-03-01

    Full Text Available BACKGROUND This article is about the stillbirth in which we found significant numbers of cardiac as well as extracardiac defects, in combination or separately. In this article, we would like to emphasize the anomalies found in consanguineous marriages. AIM To correlate the prevalence of cardiac as well as extracardiac anomalies in consanguineous marriages. Especially, here we would like to focus on the cardiac lesions. MATERIAL AND METHOD The study was carried out in 44 still birth foetuses with detailed account of parentage. Significant number of cases with cardiac and extracardiac anomalies was found. RESULTS Out of total 44 stillbirth foetuses, 13 stillbirths were from consanguineous marriages in which 09 had cardiac anomalies. Interrupted aortic arch-02, Abnormal origin of right Subclavian artery- 01, Tetralogy of Fallot- 01, VSD- 04, ASD-01. The extra cardiac findings included Gastroschisis-01, Anencephaly with spina bifida-01, cleft lip/palate-01, polydactyly and syndactyly of ring and little finger-01, limb deformity-01, hydrocephalus-01, craniothoracopagus-01. CONCLUSION Considering the high incidence of cardiac and extracardiac anomalies in consanguineous parentage we must try to create an awareness to avoid the practice of consanguineous marriages in society.

  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. 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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1994-01-15

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

  18. 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.

  19. 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.

  20. Mutations in planar cell polarity gene SCRIB are associated with spina bifida.

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    Yunping Lei

    Full Text Available Neural tube defects (NTDs (OMIM #182940 including anencephaly, spina bifida and craniorachischisis, are severe congenital malformations that affect 0.5-1 in 1,000 live births in the United States, with varying prevalence around the world. Mutations in planar cell polarity (PCP genes are believed to cause a variety of NTDs in both mice and humans. SCRIB is a PCP-associated gene. Mice that are homozygous for the Scrib p.I285K and circletail (Crc mutations, present with the most severe form of NTDs, namely craniorachischisis. A recent study reported that mutations in SCRIB were associated with craniorachischisis in humans, but whether SCRIB mutations contribute to increased spina bifida risk is still unknown. We sequenced the SCRIB gene in 192 infants with spina bifida and 190 healthy controls. Among the spina bifida patients, we identified five novel missense mutations that were predicted-to-be-deleterious by the PolyPhen software. Of these five mutations, three of them (p.P1043L, p.P1332L, p.L1520R significantly affected the subcellular localization of SCRIB. In addition, we demonstrated that the craniorachischisis mouse line-90 mutation I285K, also affected SCRIB subcellular localization. In contrast, only one novel missense mutation (p.A1257T was detected in control samples, and it was predicted to be benign. This study demonstrated that rare deleterious mutations of SCRIB may contribute to the multifactorial risk for human spina bifida.

  1. 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.

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

    Science.gov (United States)

    Ahluwalia, I B; Daniel, K L

    2001-05-11

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

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

    Science.gov (United States)

    2008-01-11

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

  4. 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.

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

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    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.

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

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    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. Modeling anterior development in mice: diet as modulator of risk for neural tube defects.

    Science.gov (United States)

    Kappen, Claudia

    2013-11-01

    Head morphogenesis is a complex process that is controlled by multiple signaling centers. The most common defects of cranial development are craniofacial defects, such as cleft lip and cleft palate, and neural tube defects, such as anencephaly and encephalocoele in humans. More than 400 genes that contribute to proper neural tube closure have been identified in experimental animals, but only very few causative gene mutations have been identified in humans, supporting the notion that environmental influences are critical. The intrauterine environment is influenced by maternal nutrition, and hence, maternal diet can modulate the risk for cranial and neural tube defects. This article reviews recent progress toward a better understanding of nutrients during pregnancy, with particular focus on mouse models for defective neural tube closure. At least four major patterns of nutrient responses are apparent, suggesting that multiple pathways are involved in the response, and likely in the underlying pathogenesis of the defects. Folic acid has been the most widely studied nutrient, and the diverse responses of the mouse models to folic acid supplementation indicate that folic acid is not universally beneficial, but that the effect is dependent on genetic configuration. If this is the case for other nutrients as well, efforts to prevent neural tube defects with nutritional supplementation may need to become more specifically targeted than previously appreciated. Mouse models are indispensable for a better understanding of nutrient-gene interactions in normal pregnancies, as well as in those affected by metabolic diseases, such as diabetes and obesity.

  8. Morphogenetic movements in the neural plate and neural tube: mouse.

    Science.gov (United States)

    Massarwa, R'ada; Ray, Heather J; Niswander, Lee

    2014-01-01

    The neural tube (NT), the embryonic precursor of the vertebrate brain and spinal cord, is generated by a complex and highly dynamic morphological process. In mammals, the initially flat neural plate bends and lifts bilaterally to generate the neural folds followed by fusion of the folds at the midline during the process of neural tube closure (NTC). Failures in any step of this process can lead to neural tube defects (NTDs), a common class of birth defects that occur in approximately 1 in 1000 live births. These severe birth abnormalities include spina bifida, a failure of closure at the spinal level; craniorachischisis, a failure of NTC along the entire body axis; and exencephaly, a failure of the cranial neural folds to close which leads to degeneration of the exposed brain tissue termed anencephaly. The mouse embryo presents excellent opportunities to explore the genetic basis of NTC in mammals; however, its in utero development has also presented great challenges in generating a deeper understanding of how gene function regulates the cell and tissue behaviors that drive this highly dynamic process. Recent technological advances are now allowing researchers to address these questions through visualization of NTC dynamics in the mouse embryo in real time, thus offering new insights into the morphogenesis of mammalian NTC.

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

    Science.gov (United States)

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

    2013-09-01

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

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

    Science.gov (United States)

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

    2014-01-01

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

  11. 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.

  12. [Ultrasonographic diagnosis of polyhydramnios and its association with congenital malformations].

    Science.gov (United States)

    Romero Gutierrez, G; Fuentes Paramo, H; Membrila Alfaro, E; Vargas Huerta, M

    1996-01-01

    We carried out a prospective study at the Hospital de Gineco-Obstetricia del Instituto Mexicano del Seguro Social, in León, Guanajuato in order to evaluate the association between polyhydramnios and fetal congenital anomalies. 200 women were included, 100 with polyhydramnios and 100 with normal amniotic fluid (control group). The diagnosis of polyhydramnios was made with ultrasound scanning using maximum vertical pocket technique and amniotic fluid index. The patients with polyhydramnios had an average maximum vertical pocket of 9.3 centimeters and amniotic fluid index of 27.0 centimeters. In patients with polyhydramnios 24 cases of congenital malformations were found, and none in patients with normal amniotic fluid (P < 0.01). The most common fetal anomalies were: esophageal atresia (25%), anencephaly (21%) and ductus arteriosus (21%). There were six perinatal deaths in the group of patients with polyhydramnios, five of them had congenital abnormalities, on the other hand in the control group there were no perinatal deaths (P < 0.01). Owing to the signifficative association between polyhydramnios and congenital anomalies, we suggest to reinforce the ultrasound evaluation in order to detect these abnormalities and to offer an early treatment and therefore a better prognosis to the fetus.

  13. 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.

  14. 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.

  15. 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.

  16. 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

  17. 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

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

    Institute of Scientific and Technical Information of China (English)

    周维侠

    2014-01-01

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

  19. 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.

  20. 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.

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

    Directory of Open Access Journals (Sweden)

    José A Ramírez-Espitia

    2003-10-01

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

  2. 三维彩色多普勒超声在胎儿神经管畸形中的应用分析

    Institute of Scientific and Technical Information of China (English)

    王利娜

    2016-01-01

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

  3. 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

  4. Neonatal and pediatric organ donation: ethical perspectives and implications for policy

    Directory of Open Access Journals (Sweden)

    Ajit Ashok Sarnaik

    2015-11-01

    Full Text Available 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, nonmaleficence, 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.

  5. Mutations in Hedgehog acyltransferase (Hhat perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.

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    Jennifer F Dennis

    Full Text Available Holoprosencephaly (HPE is a failure of the forebrain to bifurcate and is the most common structural malformation of the embryonic brain. Mutations in SHH underlie most familial (17% cases of HPE; and, consistent with this, Shh is expressed in midline embryonic cells and tissues and their derivatives that are affected in HPE. It has long been recognized that a graded series of facial anomalies occurs within the clinical spectrum of HPE, as HPE is often found in patients together with other malformations such as acrania, anencephaly, and agnathia. However, it is not known if these phenotypes arise through a common etiology and pathogenesis. Here we demonstrate for the first time using mouse models that Hedgehog acyltransferase (Hhat loss-of-function leads to holoprosencephaly together with acrania and agnathia, which mimics the severe condition observed in humans. Hhat is required for post-translational palmitoylation of Hedgehog (Hh proteins; and, in the absence of Hhat, Hh secretion from producing cells is diminished. We show through downregulation of the Hh receptor Ptch1 that loss of Hhat perturbs long-range Hh signaling, which in turn disrupts Fgf, Bmp and Erk signaling. Collectively, this leads to abnormal patterning and extensive apoptosis within the craniofacial primordial, together with defects in cartilage and bone differentiation. Therefore our work shows that Hhat loss-of-function underscrores HPE; but more importantly it provides a mechanism for the co-occurrence of acrania, holoprosencephaly, and agnathia. Future genetic studies should include HHAT as a potential candidate in the etiology and pathogenesis of HPE and its associated disorders.

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

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    Jennifer N. Murdoch

    2014-10-01

    Full Text Available 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 Vangl2Lp, ScribCrc and Celsr1Crsh 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, Celsr1Crsh;Vangl2Lp;ScribCrc 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 ScribCrc is a null mutant and produces no Scrib protein, Celsr1Crsh and Vangl2Lp homozygotes both express mutant proteins, consistent with dominant effects. The variable outcomes of these genetic

  7. A clinical study of fetomaternal outcome in pregnancy with polyhydramnios

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    Aditi Anil Rajgire

    2016-12-01

    Full Text Available Background: Amniotic fluid not only provides protection to the fetus from traumatic forces, cord compression, and microbial pathogens, but also plays an integral role in the normal development of the fetal musculoskeletal, pulmonary, and gastrointestinal systems. Polyhydramnios, defined as an excessive amount of amniotic fluid, complicates approximately 0.4-3.3% of all pregnancies. Fetal conditions that are associated with polyhydramnios include major congenital anomalies and both the immunologic and non-immunologic forms of hydrops foetalis. Maternal medical conditions are also known to be associated with polyhydramnios and subsequently alter perinatal outcome. So by diagnosing these cases as early as possible, these maternal complications can be prevented and advise proper prenatal counseling in relevant cases. Methods: This study was conducted in obstetrics and gynaecology department at a tertiary care hospital, over the period of from September 2015 to September 2016. Prospective observational study. Results: Polyhydramnios is commoner in primigravida. Causative factor are mainly idiopathic after which the most important is fetal defects. Diabetes is also associated finding with polyhydramnios in 8.3% cases. The occurrence of fetal congenital abnormality was directly proportional to the gestational age of pregnancy. Incidence of congenital abnormality was found to be 1.25 %. Congenital heart disease and cleft lip and cleft palate (3% were the commonest congenital abnormality associated with polyhydramnios followed by anencephaly and spina bifida (3.3%. Conclusions: In our study Idiopathic polyhydramnios was found to be the most common cause of polyhydramnios. A careful study must be done for detection of etiological factors in all cases of polyhydramnios, careful screening, prenatal and antenatal counseling will help to improve the foetal outcome as well as to prevent the maternal complication.

  8. Effectiveness of leukocyte immunotherapy in recurrent spontaneous abortion%复发性流产的免疫治疗效果分析

    Institute of Scientific and Technical Information of China (English)

    麦明琴; 吴菁; 魏然; 黄华梅; 钟燕芳

    2009-01-01

    Objective: To evaluate the effectiveness of leukocyte immunization therapy for treatment of recurrent spontaneous abortion (RSA). Methods: 454 non-pregnant women recognized as RSA were referred for immunotherapy, all the cases were immunized by isolated lymphocytes from their husbands. Patients up to 20 weeks in gestation were recognized as successfully treatment outcome. 116 (25.55%) cases out of 454 were given birth, the totally efective rate was 70. 48% (not including gestation before 20th week), we found 1 fetal suffered with anencephaly and 1 congenital heart disease, the malformation rate was 0. 44%. Conclusion: The results showed evidence that immunotherapy is one of the effective and safe methods for RSA.%目的 了解采用淋巴细胞对复发性流产进行主动免疫的疗效.方法 采用丈夫外周血淋巴细胞治疗复发性流产,454例患者疗程结束并成功随访,妊娠至20周后者为治愈.结果 116(25.55%)例足月分娩,治愈率70.48%(未包括已孕20周内).其间1例孕20周诊断无脑儿,1例孕26周超声示胎儿先天性左心发育不良,畸形率0.44%.结论 免疫治疗是安全、有效的治疗复发性流产的方法之一,能确实解决病患实际问题.

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

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    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. 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.

  11. 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.

  12. 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.

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

    Science.gov (United States)

    Hirai, M; Masubuchi, Y; Komoriyama, K

    1981-03-01

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

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

    Science.gov (United States)

    Psychoyos, Delphine; Vinod, K Yaragudri

    2013-01-01

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

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

    Science.gov (United States)

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

    2015-01-01

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

  16. Epidemiology of the neural tube defects in Kashmir Valley

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    Masood Ahmed Laharwal

    2016-01-01

    Full Text Available Introduction/Background: Neural tube defects (NTD are the most common congenital malformations affecting the brain and spinal cord and have a multifactorial etiology. Genetic and environmental factors have been found to cause these defects, both individually and in combination. Aims and Objectives: The aim of this study was to determine the incidence, types, demographics, risk factors, and other associated anomalies relevant to NTDs in Kashmir Valley. Materials and Methods: A 2-year hospital-based prospective study was carried out from November 2013 to October 2015. A detailed history of the mother was taken along with detailed clinical examination of neonate including measurement of head circumference and checking the status of fontanella, whether - lax/full/bulging/or tense, type of NTD. Investigations that were done included were X-ray skull: Anteroposterior (AP and lateral, X-ray spine: AP and lateral, ultrasonography abdomen, magnetic resonance imaging: Spine and brain. Results: The total number of babies with NTD's was 125 with an overall incidence of 0.503. District Kupwara was having the highest incidence (1.047 and district Srinagar the lowest incidence of NTD's (0.197. The majority of NTD's (116 cases, 92.8% were found in the rural areas. Among the different types of NTD's, spina bifida had an incidence of 0.342 (85 cases, 68%, and anencephaly had an incidence of 0.113 (28 cases, 22.4%. There was a slight preponderance of females over males with NTD's. There were70 females (56% and 55 males (44% respectively with a male:female ratio of 0.8:1. Conclusions: The incidence rates of NTDs are very high for Kashmir Valley. Geographical distribution of NTDs at this place confirms a relationship between the socioeconomic status, educational status, maternal age and environmental factors for the development of an NTD. The results of this study point to the importance establishing a health policy to prevent NTDs in Kashmir Valley.

  17. 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.

  18. 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.

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

    Science.gov (United States)

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

    2015-03-01

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

  20. 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

    2015-04-24

    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.

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

    Science.gov (United States)

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

    2016-01-01

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

  2. [Folic acid use by pregnant women in Israel for preventing neural tube defects].

    Science.gov (United States)

    Gil, Z; Aran, A; Friedman, O; Beni-Adani, L; Constantini, S

    2000-12-01

    Spina bifida and anencephaly are the most common, serious malformations in neural tube defects (NTD). Randomized trials in the last 2 decades have demonstrated that folic acid, 0.4 mg/d, reduces the incidence of NTD by more than 50%. We investigated the use of folic acid and multivitamins containing folic acid in childbearing women. Of 221 women interviewed, 67 (30%) regularly took pills containing 0.4 mg folic acid. Women with higher educational levels were more likely to take multivitamins with folic acid than were the less educated (p = 0.05). Of the women who took folic acid, only 5 (7.5%) used separate folic acid tablets, before and during their pregnancy. The rest used multivitamins containing folic acid. The 5 women who took folic acid separately were college-educated and nonreligious, and they took multivitamins in addition (p > 0.05). Of the women interviewed, 58 (26.2%) were Bedouin of the Negev. 24 (41.4%) of them took pills containing folic acid on a regular basis. This percentage is higher than that in the Jewish women in the study who took folic acid for prevention of NTD (17%; p = 0.038). Most of the women took folic acid after the first trimester. Only a minority took daily periconceptional folic acid. Multivitamins containing 0.4 mg of folic acid were more popular than folic acid tablets alone. This study emphasizes the need for continuing efforts to increase consumption of folic acid and awareness of its benefits among women of childbearing age.

  3. 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.

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

    Science.gov (United States)

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

    2015-01-01

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

  5. 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

  6. 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.

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

    Institute of Scientific and Technical Information of China (English)

    刘书红

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Farley Thomas L

    2006-08-01

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

  9. 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.

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

    Institute of Scientific and Technical Information of China (English)

    施国栋; 陈永予

    2009-01-01

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

  11. Discussion on the value of standardized ultrasound screening for fetal central nerve system abnormalities%产前超声筛查在胎儿神经管畸形中的价值探讨

    Institute of Scientific and Technical Information of China (English)

    刘晶; 张巧莲; 宋涛

    2015-01-01

    Objective To evaluate the clinical value of standardized ultrasound screening for fetal central nerve system abnormalities.Methods During the period of Feb.2008 and Feb.2014 3 056 pregnancy women were subjected to ultrasound screening in our hospital.The structures,such as the head and spine were scanned in detail.Results Eighty-seven fetus with fetal central nerve system abnormalities were ex-amined prenatally by ultrasound and each showed typical imaging feature.Among these cases,there were 32 cases of hydrocephalus,5 cases of holoprosencephaly,11 cases of anencephaly,1 cases of iniencephaly, 8 cases of choroid plexus cysts,3 cases of Dandy-Walker complex,6 cases of cephalocele,19 cases of spina bifida and 2 cases of scoliosis.Conclusion Standardized ultrasound screening is of great value to screen fe-tal abnormality,which can reduce the risk of medical treatment in fetal abnormality screening.%目的:探讨产前超声筛查在胎儿神经管缺陷中的应用价值。方法参考国际妇产超声学会(ISUOG)操作规范,对2008年2月-2014年2月在新疆医科大学第一附属医院就诊的3056例孕妇进行了产前超声筛查,系统检查胎儿头颅、脊柱等结构,对其病例资料进行回顾性分析。结果3056例胎儿中共检出胎儿神经管缺陷87例,其中脑室扩张32例,前脑无裂畸形5例,无脑儿11例,露脑畸形1例,脉络膜囊肿8例,Dandy-walker 畸形3例,脑脊膜膨出4例,脑膜脑膨出2例,脊柱裂19例,半椎体畸形2例。结论产前超声筛查能够最大限度地检出胎儿神经管畸形,对减少漏诊率、降低医疗风险具有重要的临床意义。

  12. Clinical value of prenatal ultrasound diagnosis of fetal central nervous system abnormalities%产前超声诊断胎儿神经系统畸形的临床价值

    Institute of Scientific and Technical Information of China (English)

    韩磊; 沈亚梅; 彭建美; 管湘平; 王珍芳; 邹荣莉

    2016-01-01

    Objective To evaluate the clinical value of prenatal routine ultrasound examination in screening of fetal central nervous system abnormalities.Methods Ultrasound imaging features of 27 cases of abnormalities in central nervous system confirmed by autopsy or follow-up were analyzed retrospectively.Results Among these cases, there were 11 cases of spine bifida and meningomyelocele, 3 cases of Dandy-Walker syndrome ( DWS) , 3 cases of cephalocele, 3 cases of hydrocephalus, 1 case of anencephaly, 2 cases of holoprosencephaly, 2 cases of agenesis of corpus callosum, 1 cases of choroid plexus cysts, and 1 case of arachnoid cyst.The accuracy, misdiagnosis rate and missed diagnosis rate of prenatal ultrasound examination was 88.90%, 7.40%and 7.40%, respectively.Conclusion Prenatal ultrasound examination has high diagnostic accuracy for fetal central nervous system malformations, and it has very important clinical value.%目的 探讨产前常规超声检查在胎儿神经系统畸形筛查方面的临床应用价值.方法 对27例经随访及引产证实的中枢神经系统畸形胎儿进行回顾性分析.结果 27例畸形儿中,其中脊柱裂和脊髓脊膜膨出11例,Dandy-Walker畸形3例,脑脊膜膨出3例,脑积水3例,无脑儿1例,全前脑2例,胼胝体发育不全2例,脉络丛囊肿1例,蛛网膜囊肿1例,产前超声诊断准确率为88.90%,误诊率7.40%,漏诊率7.40%.结论 产前超声检查对胎儿中枢神经系统畸形诊断准确率高,具有十分重要的临床应用价值.

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

    Institute of Scientific and Technical Information of China (English)

    焦光琼; 徐惠英; 洪向丽; 殷舫; 谭晶

    2010-01-01

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

  14. Value of Ultrasound Screening for Fetal Central Nerve System Abnormalities in Second Trimester%中孕期产前超声筛查在胎儿神经管缺陷中的应用价值

    Institute of Scientific and Technical Information of China (English)

    刘晶; 宋涛

    2014-01-01

    Objective To evaluate the clinical value of ultrasound screening for fetal central nerve system abnormalities in second trimester.Methods During the period of Feb. 2008 and Sep. 2013 2 661 pregnancy women were subjected to ultrasound screening in second trimester in our hospital. The structures, such as the head and spine were scanned in detail.ResultsEighty-seven fetus with fetal central nerve system abnormalities were examined prenatally by ultrasound and each showed typical imaging feature. Among these cases, there were 32 cases of hydrocephalus, 5 cases of holoprosencephaly, 11 cases of anencephaly, 8 cases of choroid plexus cysts, 6 cases of cephalocele, 19 cases of spina biifda, 1 cases of iniencephaly, 3 cases of Dandy-Walker complex and 2 cases of scoliosis. The cases of no more than 5 temporarily were not discussed in this paper.Conclusion Ultrasound screening in second trimester is of great value to screen fetal abnormality, which can reduce the risk of medical treatment in fetal abnormality screening.%目的:探讨中孕期产前超声筛查在胎儿神经管缺陷中的应用价值。方法2008年2月~2013年9月间,参考国际妇产超声学会(ISUOG)操作规范,对2661例孕妇进行了中孕期产前超声筛查,系统检查胎儿头颅、脊柱等结构。结果2661例胎儿中共检出胎儿神经管缺陷81例,其中脑室扩张32例,前脑无裂畸形5例,无脑儿11例,脉络膜囊肿8例,脑脊膜膨出6例,脊柱裂19例。结论中孕期产前超声筛查能够最大限度地检出胎儿神经管畸形,对减少漏诊率、降低医疗风险具有重要的临床意义。

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

    Institute of Scientific and Technical Information of China (English)

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

    2011-01-01

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

  16. The screening value in the first-trimester fetuses by color Doppler flow image%彩色多普勒超声应用于11~14周胎儿筛查的价值

    Institute of Scientific and Technical Information of China (English)

    王莉; 吴青青; 陈焰; 姚苓; 马玉庆; 杨文娟; 李晓菲

    2011-01-01

    Objective To examine the value of color Doppler flow image CDFI)in the screening of first-trimester fetus. Methods Two thousand and three hundred and eighty cases in first-trimester were screened by the color Doppler ultrasonography. Results A total of 2426 fetuses included 46 twins. Twenty-eight fetuses were abnormal including 8 cases of NT≥3. 0 mm and 11cases of NT≥3. 0 mm with the other abnormalities. Eight cases of abnormal anatomical structures included 1 case of multiplicitas, 1 case of cephalocele, 1 case of partial hydatidiform mole, 1 case of choroid plexus cysts ,4 case of central nerve system abnormalities( 3 cases of exencephaly ,1 case of anencephaly )and 1 case of reversal "A" wave in ductus venosus flow.Conclusion The Color Doppler ultrasonographic examination can provide the important hereditary information for prenatal screening of first-trimester fetus and screen fetal serious abnormal anatomical structures.%目的 探讨彩色多普勒超声用于11~14周胎儿筛查的价值.方法 应用彩色多普勒超声对2380例孕11~14周(胎儿头臀长在45~84 mm之间)的孕妇进行检查.结果 胎儿总数2426例,其中单胎2334例,双胎46例.共发现可疑异常胎儿28例:(1)颈项透明层(NT)≥3.0 mm 8例.(2)NT≥3.0 mm合并其他异常11例.(3)胎儿单纯解剖结构异常8例(1例多发畸形,1例脐膨出,1例胎盘部分性葡萄胎,1例脉络丛囊肿,4例中枢神经系统畸形包括露脑畸形3例、无脑儿1例).(4)静脉导管血流频谱异常1例.结论 彩色多普勒超声检查用于11~14周胎儿筛查能够提供重要的遗传学信息,发现严重的胎儿解剖结构异常.

  17. Study of the ureter structure in anencephalic fetuses

    Directory of Open Access Journals (Sweden)

    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

  18. Value of lateral ventricle and cerebellum plane scanning in diagnosis of fetal midline structure abnormalities%侧脑室及小脑平面对胎儿神经系统中线结构畸形的诊断价值

    Institute of Scientific and Technical Information of China (English)

    符忠蓬; 林如; 戴蓓蓓; 谢梦; 黄晓微; 任芸芸; 严英榴; 孙莉; 孔凡斌; 赵蔚; 姚英; 胡雁来; 曹丽

    2015-01-01

    Objective:To evaluate the value of the lateral ventricle and cerebellum plane scanning in the diagnosis of fetal central nerve system (CNS) midline structure abnormalities. Methods:Ultrasound imaging features of 97 fetuses with fetal CNS midline structure abnormalities from 3 921 abnormal fetuses were analyzed retrospectively. Results: Among the 97 fetuses, there were 9 cases of encephalocele, 7 cases of anencephaly, 4 cases of meningocele, 11 cases of transparent septum widened, 16 cases of complete agenesis of the corpus callosum (ACC), 15 cases of partial ACC, 15 cases of holoprosencephaly, 4 cases of arachnoid cyst, 10 cases of Dandy-Walker malformation, 4 cases of malformation Arnold-Chiari typeⅡ, and 2 cases of vein of Galen aneurysm malformation. Conclusion: The lateral ventricle and cerebellum plane scanning is a safe, liable, practical and quick method to diagnose the fetal CNS midline structure abnormalities.%目的:探讨在产前常规超声检查中,侧脑室及小脑平面对胎儿中枢神经系统中线结构畸形的诊断价值。方法:从复旦大学附属妇产科医院3921例畸形胎儿中选出97例中枢神经系统中线结构畸形胎儿,对其声像图特征进行回顾性分析。结果:产前超声诊断胎儿中枢神经系统中线结构畸形97例,其中脑膜脑膨出9例、无脑儿7例、脑膜膨出4例、透明隔腔增宽11例、完全型胼胝体缺失(ACC)16例、部分型ACC 15例、全前脑15例、蛛网膜下腔囊肿4例、Dandy-Walker畸形10例、Arnold-Chiari畸形Ⅱ型4例、Galen静脉瘤2例。结论:胎儿侧脑室平面及小脑平面的超声检查安全有效、方便快捷,是胎儿中枢神经系统畸形筛查最常用的切面,对胎儿中枢神经系统中线结构畸形检出率高。

  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. 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.

  1. Comparison of second-trimester maternal serum free-β-human chorionic gonadotropin and α-fetoprotein between normal singleton and twin pregnancies: a population-based study

    Institute of Scientific and Technical Information of China (English)

    ZHENG Ming-ming; ZHONG Xiao-ling; HU Ya-li; ZHANG Chun-yan; RU Tong; LIU Qi-lan; XU Bi-yun; CHEN Qi-guang; XU Zheng-feng; ZHANG Yin

    2010-01-01

    Background The second-trimester maternal serum screening in twin pregnancy is still controversial, as the serum marker levels in twins are not as clear as those in singletons. This study aimed to evaluate the relationship between the levels of the second-trimester maternal serum free p-human chorionic gonadotropin (free β-HCG) and a-fetoprotein (AFP) in normal twin and singleton pregnancies and to estimate feasible analysis methods for utilizing these markers in second trimester screening for twin pregnancy. Methods On the basis of a prospective population-based study of second-trimester maternal serum screening, the concentrations of maternal serum AFP and free β-HCG of 195 normal twin pregnancy and 26 512 singleton controls at gestational weeks 15 to 20 were measured by time-resolved fluoroimmunoassay in one laboratory. The levels of markers were compared between the twins and singletons using weight-correction and gestational age-specific model. Results According to the research protocol, 95 communities were randomly sampled, which covered the whole Jiangsu province, the east of China. A total of 26 803 pregnant women (98%), from the target population accepted prenatal screening for maternal serum AFP, β-HCG detection, and all babies were followed up for at least six months. There were 197 (0.73%) twin pregnancies, of which one case had fetal trisomy 18, and one case with fetal anencephaly. The others were normal twin pregnancy. From a total enrollment of 26 803 women participants, 26 512 women with normal singleton pregnancies were selected as the model controls. The other 291 pregnancies, including trisomy 21, neural tube defect (NTD), trisomy 18, and other fetal abnormalities, were excluded. No significant differences were found in the medians of gestational age-specific maternal serum free β-hCG and AFP in normal twin pregnancy comparing with twice those in model controls with the exception of the medians for free β-hCG during the 16th gestational week

  2. 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

  3. Incidence of open neural tube defects in Nova Scotia after folic acid fortification

    Science.gov (United States)

    Persad, Vidia L.; Hof, Michiel; Dubé, Johanne M.; Zimmer, Pamela

    2002-01-01

    Background With the goal of preventing open neural tube defects (NTDs), recommendations for folic acid supplementation before conception were introduced in Canada in 1994, and by November 1998 Canadian grain products were being fortified with folic acid. We wished to determine whether the annual incidence of open NTDs in Nova Scotia, including those in stillbirths and terminated pregnancies, changed after the introduction of either folic acid supplementation or fortification. Methods For the 10-year period from Jan. 1, 1991, to Dec. 31, 2000, we retrospectively extracted the total number of births in Nova Scotia and the number of live births and stillbirths with open NTDs from the Nova Scotia Atlee Perinatal Database as well as the number of terminated pregnancies affected by NTDs from the Fetal Anomaly Database. We determined the total annual incidence of all open NTDs, and of the subgroups spina bifida and anencephaly, per 1000 births in the province during the periods before (1991–1994) and after (1995–1998) folic acid supplementation initiatives were begun but before folic acid fortification of grain products was implemented, and during the periods before (1991–1997) and after (1998–2000) fortification. Results In the period after supplementation initiatives were begun but before fortification was implemented, the incidence of open NTDs did not change significantly: the mean annual rate was 2.55 per 1000 births during 1991–1994 and 2.61 per 1000 births during 1995–1997 (relative risk [RR] 1.02, 95% confidence interval [CI] 0.77–1.35). After the fortification was implemented the incidence of open NTDs decreased by more than 50%: the mean annual rate was 2.58 per 1000 births during 1991–1997 and 1.17 per 1000 births during 1998–2000 (relative risk 0.46, 95% CI 0.32–0.66). Interpretation The recommendations for folic acid supplementation alone did not appear to succeed in reducing the incidence of open NTDs in Nova Scotia, whereas the

  4. Clinical Value of Prenatal Screen for Down' s Syndrome and Prenatal Diagnosis in the First and Second Trimester in Xiangtan%湘潭地区孕早中期联合产前筛查与产前诊断的临床应用价值探讨

    Institute of Scientific and Technical Information of China (English)

    孙辉; 王淑媛; 熊敏

    2012-01-01

    Objective To explore the clinical value of prenatal screen and diagnosis in the first and second trimester for preventing birth defects. Methods The serum markers of 18247 cases of pregnant women were detected by automatic Time-Resolved Fluorescence (TRF) , and amniotic fluid culture test for fetal karyotype diagnosis in high-risk pregnant women were carried out. Results In the 18247 cases of pregnant women, the high risk of DS and trisomy 18 were 873 and 91 cases respectively. The high risk of NTD was 104 cases, and the total positive rate was 5. 85%. In the 583 cases of pregnant women who accepted the amniotic fluid culture for prenatal diagnosis, the definitive diagnosis of chromosome numerical aberration were 19 cases in which included 13 cases of DS, 2 cases of trisomy and 4 cases of sex chromosomal abnormalities. The chromosomal structural abnormality were 13 cases and spina bifida or anencephaly were 13 cases, which was diagnosed by type-B ultrasonic. Conclusion Prenatal screen and diagnosis are effective predictors for adverse pregnancy outcome and have significant clinical value to prevent congenital defects in infants.%目的 探讨孕早中期孕妇联合产前筛查与产前诊断对预防出生缺陷的实用价值.方法 应用全自动时间分辨荧光免疫法对18247例孕妇血清标志物联合筛查,高风险孕妇通过羊水产前诊断进行效果评价.结果 筛查出唐氏综合征高风险873例,18-三体高风险91例,NTD高风险者104例,总阳性率5.85%.有583例孕妇接受羊水产前诊断,占筛查高危的60.5%.确诊胎儿染色体数目异常19例(唐氏综合征13例、18-三体综合征2例、性染色体异常4例);染色体结构异常13例;B超确诊脊柱裂或脑畸形13例.结论 联合产前筛查与产前诊断是预测不良妊娠结局的有效指标,对降低出生缺陷有重要的临床意义.

  5. 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

  6. 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.

  7. 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

  8. 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.

  9. Pregnant women serum microR-423 as a biomarker for non-invasive prenatal diagnosis of fetal neural tube defect%孕妇血清微小RNA-423对胎儿神经管缺陷产前诊断的意义

    Institute of Scientific and Technical Information of China (English)

    顾卉; 黄天楚; 梅妍; 袁正伟

    2015-01-01

    Objective The discovery of microRNA (miRNA) in maternal serum has opened up new possibilities for non-invasive prenatal diagnosis.However,our understanding of these pregnancy-related miRNA in the serum of pregnant women with fetuses with neural tube defects (NTDs) is still limited.This article is to study the dysregulated expression of microRNA-423 (miR-423) in the serum of pregnant women with neural tube defect(NTD) fetuses and its potential role as a biomarker for non-invasive prenatal diagnosis of fetal NTD.Methods Thirty-three pregnant women whose fetuses were diagnosed as neural tube defects by ultrasound (22 cases of spina bifida and 11 cases of anencephaly)and 33 normal pregnant women were selected.Peripheral venous blood of each pregnant woman was obtained early in the morning,the serum was purified from blood by centrifugation,then total RNA was isolated from serum and the miR-423 levels were detected by real-time RT-PCR.The ROC curve was used for assessing the diagnostic accuracy of miR-423 for fetal NTD.Results We revealed miR-423 with signifcant down-regulation in expression in serum of pregnant women with NTD fetuses (0.96 ±0.14) compared as women with normal pregnancies(2.28 ±0.43) (P <0.05).We performed ROC analysis of data from the 33 case-control pairs.The expression of miR-423 could distinguish NTD cases from normal controls,with an AUC of 0.711 (95 % CI:0.566 ~ 0.856) (P < 0.05).Moreover,the expression of miR423 decreased only in serum of pregnant women with anencephaly fetuses(0.58 ±0.08)by the analysis in different forms of NTD.Conclusion miR-423 is deregulated in the serum of pregnant women with NTD fetuses and highlight the clinical potential of miR-423 as biomarker for diagnosis and prognostication of fetal NTD.%目的 母亲血清中微小RNA(microRNA,miRNA)的发现为无创性产前诊断开辟了新途径.但是对神经管缺陷胎儿母亲血清中妊娠相关的miRNA的研究甚少.该文旨在研究微小RNA-423(mi

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

    Institute of Scientific and Technical Information of China (English)

    李冉

    2015-01-01

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

  11. 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

  12. Application of color Doppler ultrasound in screening for fetal malformation%彩色多普勒超声在胎儿畸形筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    黄嘉静

    2015-01-01

    目的:研究彩色多普勒超声在胎儿畸形筛查中的应用。方法选择2012年2月~2014年7月期间在我院进行分娩或者引产的胎儿畸形产妇共计90例。所有产妇在产前均实施过彩色多普勒超声的产前检查。对胎儿畸形的种类进行观察,以及彩色多普勒超声在胎儿畸形筛查中的诊断符合率,对不同时间段胎儿畸形筛选情况进行分析。结果彩色多普勒在胎儿畸形筛查中对无脑畸形、双胎畸形、心血管畸形、脑脊膜膨出、脑积水、泌尿系统畸形、消化道畸形、胸腹腔肿瘤以及脊柱裂方面均具有较高的诊断符合率。孕16~25周胎儿畸形筛选所占的比例75.56%显著高于孕26~35周和孕36~40周的比例,差异有统计学意义(P <0.05)。结论彩色多普勒超声在胎儿畸形筛查中是最为有效的方法,彩超操作医师在检查中应该从系统、全面、多方位、多角度出发,以此减少胎儿畸形筛选中的误诊与漏诊,进一步提高彩色多普勒超声在胎儿畸形筛查中的诊断率。%Objective To investigate the application of color Doppler ultrasound in screening for fetal malformation. Methods 90 cases of patients with maternal fetal malformation in childbirth or induced abortion were selected in our hospital from February 2012 to July 2014.All maternal prenatal prenatal examination were implemented by color Doppler ultrasound.The types of fetal malformations were observed,consistent with the diagnosis rate and color Doppler ultrasound in screening for fetal malformation,fetal malformation screening were analyzed at the different time. Results The rate of diagnosis with color Doppler in the diagnosis of fetal malformation of anencephaly,cardiovascular malformation,cerebral meningocele,hydrocephalus,malformation of the urinary system,digestive tract malformation,thoracic and abdominal tumor,spinal bifida all have good.At 16-25 weeks of gestation

  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. 妊娠11~13+6周超声结构筛查在胎儿中枢神经系统畸形诊断中的应用%Clinical value of structural screening by ultrasound in diagnosis of fetal central nervous system malformations at 11 ~ 13+6 weeks of gestation

    Institute of Scientific and Technical Information of China (English)

    徐燕; 茹彤; 顾燕; 杨燕; 戴晨燕; 杨丽娟

    2015-01-01

    目的::探讨规范化早孕期超声结构筛查在胎儿中枢神经系统畸形诊断中的临床价值。方法:对6902例(8336胎)孕11~13+6周胎儿(单胎妊娠5468例,双胎妊娠1434例)行规范化早孕期超声结构筛查,并追踪妊娠过程和临床结局。结果:6902例(8336胎)11~13+6孕周胎儿中产前超声检出中枢神经系统畸形13例(单胎妊娠10例,双胎妊娠 3例),其中露脑畸形5例,无脑儿 4例,前脑无裂 2例,脑膜膨出1例,开放性脊柱裂1例。合并其他结构异常 4例,染色体核型异常 3例。13例胎儿随访结果:除 3例双胎畸形胎儿经选择性减胎术后正常胎儿继续妊娠,余胎儿引产前超声与引产后尸检结果相符合。结论:规范化早孕期超声结构筛查可及早发现胎儿中枢神经系统畸形,对降低畸形胎儿的出生率及指导产科处理均有重要临床价值。%Objective:To evaluate the value of standardized structural screening by ul-trasound during the first trimester in detecting fetal central nervous system malformations. Meth-ods:Totally 8336 gravidas (including 5468 singleton,1434 twin) and 6902 fetuses aged 11 ~13+6 weeks for standardized structural screening by ultrasound were included in this study. All cases were followed up for pregnancy process and clinical results. Results:During the screen-ing,13 fetuses (10 singleton and 3 twin pregnancies) with central nervous system malformations were detected. Among these cases,there were 5 cases of exencephaly,4 cases of anencephaly,2 cases of holoprosencephaly,1 case of meningocele and 1 case of open spina bifida. 4 cases were found with extra structural malformations and 3 cases with abnormal karyotype. Follow-up re-sults:3 twin pregnancies chose elective embryo-reduction operation and continued gestation while the other10 chose induced labour,and all autopsy reports were consistent with ultrasound foundings. Conclusions:Standardized structural screening by

  15. Analysis of 47 Cases of Fetal Anomalies in Early Pregnancy Ultrasound Diagnosis%47例早孕期胎儿异常超声诊断分析

    Institute of Scientific and Technical Information of China (English)

    黄翠平; 姜伟; 江宁珠; 陈瑞云; 张海燕; 卫红艳

    2015-01-01

    Objective Through the first trimester of pregnancy 11~13+6 weeks of gestation ultrasound screening for fetal abnormali-ties, to study the clinical diagnostic significance of screening fetal malformation during the first trimester ultrasound .Methods Retrospec-tive analyzing the clinical data and the ultrasonographic findings of in the hospital from February , 2012 to February , 2014 in early prenatal ultrasound screening for fetal abnormalities in 47 cases.All fetuses were confirmed by review and induction of labor after confirmed in preg-nancy.Results Among 47 cases with fetal abnormalities , 10 cases were brain malformations , 3 cases were anencephaly , 1 case was holo-prosencephaly , 1 case was spina bifida , 1 case was conjoined twins , 12 cases were cervical cystic hygroma , 11 cases were NT thickening , 3 cases were omphalocele , 1 case was bilateral cleft lip and palate , 1 case was left foot , 1 case was right upper limb absent , 1 case was left absent radius , and 1 case was right atrial enlargement .Conclusion Early diagnosis for abnormal fetus should be done , pregnant women can reduce physical damage , but in clinics, only more serious and early fetal abnormality diagnosis is done so it can not replace late prena -tal ultrasound screening .%目的:通过早孕期11~13+6周超声筛查胎儿异常,探究早孕期超声筛查胎儿畸形的临床诊断意义。方法回顾性分析我院2012-02~2014-02间47例早孕期产前超声筛查出的胎儿异常的临床资料及超声表现。所有胎儿均经中孕期复查及引产后证实。结果47例胎儿异常中,露脑畸形10例,无脑儿3例,全前脑1例,脊柱裂1例,联体双胎1例,颈部水囊瘤12例,NT增厚11例,脐膨出3例,双侧唇腭裂1例,左足内翻1例,右上肢缺如1例,左侧桡骨缺如1例,右房增大1例。结论尽早对胎儿异常进行诊断,可减轻孕妇身体损害,但在临床上仅可以对较为严重、早发的胎儿

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

    Institute of Scientific and Technical Information of China (English)

    李智文; 刘建蒙; 任爱国; 张乐; 郭湛英; 李竹

    2008-01-01

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

  17. 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

  18. Analysis on the prevalence of perinatal neural tube defects in Guangxi from 2006 to 2011%2006~2011年广西围产儿神经管缺陷发生状况分析

    Institute of Scientific and Technical Information of China (English)

    姚慧; 丘小霞; 田晓先; 曾萼; 李映

    2013-01-01

    目的:了解广西出生缺陷医院监测网神经管缺陷(NTDs)变化趋势及影响因素,为政府决策提供依据.方法:按照中国出生缺陷监测方案的要求,对2006 ~ 2011年的41所出生缺陷医院监测点的神经管缺陷资料进行流行病学分析,将在医疗保健机构住院分娩的孕28周至产后7天的围产儿作为监测对象.结果:6年间共监测的围产儿有484 304人,其中NTDs为231例,NTDs总发生率4.77/万,年度发生率呈逐年下降趋势,降幅达64.57%.其中无脑畸形、脊柱裂、脑膨出发生率分别是2.44/万、1.67/万、0.66/万.围产儿NTDs的发生率男性为4.60/万,女性为4.75/万.城镇为2.45/万,乡村为6.52/万;产妇年龄别发生率的差异有统计学意义,<20岁组发生率最高(11.04/万).产前确诊的比例74.46%,产前B型超声波诊断的比例为77.06%.结论:2006~2011年广西围产儿NTDs的发生率出现下降趋势,农村育龄妇女是NTDs干预的重点人群.%Objective: To understand the change trend and influencing factors of Neural Tube Defects ( NTDs) of Guangxi Birth Defect Surveillance Network, and provide evidence for governments to make decisions. Methods: An epidemiological analysis on the data of neural tube defects in 41 birth defect surveillance hospitals from 2006 to 2011 in accordance with the requirements of China Birth Defect Surveillance Scheme. Surveillance subjects were the perinatal infants from 28 gestational weeks to 7 days after birth in healthcare institutions. Results: There were 484 304 perinatal infants under surveillance from 2006 to 2011 , and 231 cases were found with NTDs, the incidence rate was 4. 77/10 000. The annual incidence rate decreased gradually by 64. 57%. The incidence rates of anencephaly, spina bifi-da, and encephalocele were 2. 44/10 000, 1. 67/10 000, and 0. 66/10 000, respectively. The perinatal incidence rates of NTDs were 4. 60/ 10 000 in males and 4. 75/10 000 in females, 2. 45/10 000 in urban

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

    Institute of Scientific and Technical Information of China (English)

    刘大平

    2013-01-01

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

  20. 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

    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断信息。值得注意的是其中有3例不伴明显它处畸形的小耳,唐氏综合征2例,18-3体1例;其中1例耳低位是18-3体。%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

  1. 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,the misdiagnosis and misdiagnosis reasons were analyzed.Results:11 cases were fetal external ear deformity by the systemic fetus screening,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,爱德华氏综合征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断信息。

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

    Directory of Open Access Journals (Sweden)

    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

  3. 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

    Directory of Open Access Journals (Sweden)

    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.

  4. 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

    Directory of Open Access Journals (Sweden)

    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

  5. 标准化超声切面筛查孕11~13+6周胎儿结构畸形的临床意义%Ultrasound screening for fetal structural abnormalities with standard ultrasound views during 11-13+6 weeks

    Institute of Scientific and Technical Information of China (English)

    王莉; 吴青青; 陈焰; 马玉庆; 姚苓

    2014-01-01

    2812/2822);漏诊率43.5%(10/23,4例心脏畸形,1例脐膨出,2例肢体双足畸形;1例膈疝均于孕中晚期连续筛查检出,2例畸形出生后诊断)。结论孕早期标准化超声筛查切面能检出露脑、无脑、腹裂、脐膨出、胸外心及单心室等严重胎儿畸形。但孕早期超声筛查胎儿畸形有一定局限性,对复杂性心脏大血管畸形、肢体等畸形需待孕中晚期超声检查时诊断。因此,建立孕早、中、晚期连续动态筛查系统非常必要。%Objective The clinical value of ifrst-trimester standard ultrasound views in screening for fetal structural abnormalities. Methods From September 2008 to March 2011, transabdominal sonographic screening by standard ultrasound views was performed in 3 134 viable singleton pregnancies during the ifrst trimester at Beijing Obstetrics and Gynecology Hospital. Used the following views:(1) Fetal proifle;(2) Neck sagittal;(3) Skull and brain;(4) Thorax;(5) Abdomen;(6) Bladder;(7) Upper limbs, and (8) Lower limbs. The women underwent 20-to 24-week and 28-to 32-week ultrasound examination if the anatomical survey was normal during the ifrst trimester. Follow-up was obtained by reviewing of the birth records from hospital charts. Results Sixteen prenatal abnormalities were detected at 11-to 13-week scan (including one case of encephalocele and meningoceles, one case of endothelial cushion defect and single umbilical artery, one case of ectopia cordis, gastroschisis, and spinal abnormalities, two cases of exencephaly, one case of anencephaly, one case of gastroschisis and lower limb malformation, two cases of omphalocele, one case of encephalocele, ectopia cordis, and gastroschisis, one case of single ventricle, one case of endothelial cushion defect, four cases of hyhrop). All of the 13 women decided on termination of pregnancy. Three suspected structural abnormalities (hydrops) detected at the ifrst-trimester scan were found as normal after birth

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

    Institute of Scientific and Technical Information of China (English)

    谢华; 任玉秀; 梁晋魁; 赵莉

    2010-01-01

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

  7. 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

  8. 早孕期规范化超声检查在胎儿畸形筛查中的应用价值%The application value of standardized examination for screening fetal malformation at early pregnancy

    Institute of Scientific and Technical Information of China (English)

    罗平; 姜凡; 顾莉莉; 李亮; 袁静

    2015-01-01

    Objective To explore the application value of standardized examination for screening fetal malformation at early pregnancy. Methods 2 670 cases of pregnant women were selected for 11 ~ 13 + 6 weeks early pregnancy screening, using conventional transabdominal probe, according to standardized sequential method to observe the whole anatomical structure and measurement of fetal nuchal translucency (NT) thickness, the trace of the positive cases was followed to postpartum,and severe deformity results and pathology were compared after induced labor. Results 17 cases of abnormal fetuses were founded among the cases screened. These malformations were divided into 27 categories including 1 case of scoliosis, 2 cases of anencephaly, 1 case of brain abnormalities, 1 case of ho-loprosencephaly, 6 cases of neck hygroma, 1 case of cleft lip and palate, 9 cases of fetal edema and 2 cases of car-diac abnormalities, 2 cases of bulging umbilical, 1 case of lower limb dysplasia, and 1 case of giant bladder, were confirmed by induced labor except 2 cases of cardiac structural abnormality. NT value of 32 cases were more than 3. 0 mm, of which 3 cases were proved chromosomal abnormalities (2 cases of trisomy 21 syndrome and 1 case of trisomy 18 syndrome by amniotic fluid puncture). 6 cases of neck hygroma, 3 cases of anasarca and 1 case of fetal intrauterine death were founded in the fetus with NT thickened,the others were normal by postpartum. The addition to the 5 cases of nasal bone loss were detected, including 2 cases of trisomy 21 syndrome confirmed by amniotic flu-id puncture, 1 case of fetal intrauterine death, and 2 cases of normal fetus. Conclusion Severe fetal structural ab-normalities can be found earlier in early pregnancy standardized examination, with great clinical value in prenatal diagnosis. The NT value thickened has a significant meaning for early risk evaluation of chromosomal abnormalities and prognosis guidance.%目的:探讨早孕期规范化超声检查在胎

  9. 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

  10. 2006-2012年北京市房山区神经管缺陷流行特征%Epidemiological characteristics of neural tube defects in Fangshan district of Beijing from 2006 to 2012

    Institute of Scientific and Technical Information of China (English)

    马瑞新; 杨燕芬; 刘辉; 靳蕾

    2015-01-01

    Objective ToexplorethedynamicprevalenceofneuraltubedefectsinFangshandistrictofBeijing from 2006 to 201 2. Methods Data collected through routine birth defects surveillance system in Fangshan district during 2006 and 201 2 were used.The dynamic prevalence,distribution by population characteristics and the proportions of prenatal diagnosis of neural tube defects were analyzed. Results From 2006 to 201 2,61 neural tube defects were identified among 50 234 births,with a prevalence of 1 2.1 per 1 0 000.The prevalence of anencephaly,spina bifida and encephalocele was 5.4 per 1 0 000,4.8 per 1 0 000 and 2.0 per 1 0 000,respectively.The prevalence of neural tube defects of the floating population (20.0 per 1 0 000)was 2.3 times higher than that of the permanent local residents (8.8 per 1 0 000).After the implementation of folic acid supplementation program in 2009,the prevalence of neural tube defects among floating population showed a downward trend during 201 0 to 201 2,but the prevalence among permanent residents rebounded in 201 2.The proportion of prenatal diagnosis of neural tube defects was 80.0% from 2006 to 201 2, and the proportion of prenatal diagnosis before 28 gestational weeks was 68.3%. Conclusion The prevalence of neural tube defects in Fangshan district was slightly higher than the prevalence of Beijing and some of its districts.Moreover,the prevalence of neural tube defects of the floating population was higher than that of the permanent residents.Education and management of folic acid supplementation before pregnancy need to be strengthened.Moreover,the ability of prenatal diagnosis of neural tube defects in this district needs to be improved.%目的:了解2006—2012年北京市房山区神经管缺陷患病率的变化趋势。方法以2006—2012年房山区的出生缺陷监测数据为基础,分析神经管缺陷的患病率变化趋势、人群分布特征及产前诊断情况。结果2006—2012年房山区出生人口数为50234

  11. 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

  12. The Importance of B Ultrasound Screening in the Prevention of Birth Defects%B超筛查在预防出生缺陷中的重要性探析

    Institute of Scientific and Technical Information of China (English)

    朱亚兰

    2015-01-01

    Objective To study the use of B-summary prenatal screening to prevent birth defects and improve the quality of birth. Methods 24 cases of abnormal fetus were selected as the study object in January 2010 to January 2014 in our hospital. Statistics B Super diagnosis. Results This study examined 1 702 women who were pregnant, 24 cases of congenital fetal malformation occurs, the incidence of 1.41%. Congenital defects decreased incidence of fetal year. Including: eight cases of anencephaly children (0.47%), 6 cases of hydrocephalus (0.35%), 2 cases of spinal fracture (0.12%), 3 cases of cleft lip and palate (0.18%), 5 cases of myelomeningocele (0.29%). 24 cases of congenital malformations in the fetus, 22 cases (91.67%) by the B-ultrasound diagnosis, 2 cases (8.33%) due to the family planning service station street conditions, it could not be accurately judged by ultrasound, introduced to the district or city hospitals diagnosed. 24 cases of congenital malformation fetus gestational age of 15~30 weeks, 15~27 weeks second trimester of fetal malformation 19 cases,the incidence of 79.17%, the third trimester of fetal malformation 28~30 weeks 5 cases, the incidence of 20.83%, the second trimester a higher proportion of fetal malformation detected. Conclusion Trimester prenatal care helps detecting congenital fetal malformation, using B-screening and prevention of congenital defects in the fetus, non-invasive, simple and effective. In clinical conduct and promotion of the prenatal examination methods, professional training and capacity building of ultrasound doctors, help to improve the quality of births to minimize the rate of birth defects is delivered.%目的:研究总结出生前使用B超筛查预防出生缺陷,提高人口出生素质。方法本文采取回顾性分析法进行研究。抽取我站妇产科2010年1月~2014年1月产检筛查出的24例畸形胎儿为研究对象。统计B超确诊率。结果本次研究中共检测1702名产妇

  13. The Value of First Trimester Screening with Ultrasound in the Detection of Nerve System Malformation%11~13+6周系统超声检查对胎儿神经系统畸形的诊断价值

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    周雪; 王春连; 李正斌

    2014-01-01

    were diagnosed with nerve system malformations,including 9 fetuses with anencephaly and spina bifida,1 fetuses with full forebrain 4(0.11%) fetuses were diagnosed with nerve system malformations in the first trimester,including 2 cases with arachnoid cyst,1 case with hydrocephalus,1 case of lateral ventricle dilatation.Conclusion:Although the first trimester (11-13+6 weeeks) screening with ultrasound could detect the fetuses with major malformations,it can not replace the second trimester screening. Take two kinds of inspection together can screen for fetal nervous system malformations better.

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

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    钱若筠; 刘红; 钟南; 王瑞; 邹红云; 何江; 余伍忠

    2011-01-01

    birth defect diagnosis. The birth defects rate was calculated from January 2005 to December 2008, and the disease categories and disparity among different ethnic groups and regions in Xinjiang were analyzed. RESULTS AND CONCLUSION: The average incidence rate of birth defect was 9.74‰, which was dramatically descended in 2006 and ascended afterward yearly. The incidence rate of countryside was higher than city, and male more than female. In geography, south of Tianshan Mountain was higher than north and east in birth defect incidence. Among major ethnic groups in Xinjiang, Sibe and Uygur had the highest birth defect incidence rate, followed by Man, Hazakh, and Han. The birth defect incidence of Han, Uygur and Hazakh people showed descend tendency, Hui, Mongolia, and Man people fluctuated, yet Sibe's rate had a change of rise and fall. The first five birth defect entities were neural tube deformity, cleft lips, anencephaly, congenital hydrocephalus and cleft palate combined with cleft lips. The birth defects rates are different from ethnic groups and regions in Xinjiang.

  15. 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

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

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    Gláucia Rosana Guerra Benute

    2006-01-01

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

  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. 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

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    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

  19. 7336例孕妇羊水甲胎蛋白检测结果分析及临床应用评价%Analysis and clinical application evaluation of amniotic fluid AFP in 7 336 gravida

    Institute of Scientific and Technical Information of China (English)

    林飞; 郑海洋; 徐钰琪; 韦升开; 俸诗瀚; 阙婷; 陈少科

    2015-01-01

    Objective To establish the median value of amniotic fluid AFP(AFAFP)in each gestational age,which was used for monitoring and diagnosis of fetal neural tube defects(NTDs),and to discuss the clinical value of AFAFP test. Methods ELISA was used in quantitive test of AFAFP in 7 336 gravida in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from 2013 to 2014,subjects with positive result were diagnosed by the color doppler ultrasound. Results AFAFP level went down as fetus grown and gestation prolonged,Ln(AFAFP)and gestation was negative correlated,mathematical equation was Ln(AFAFP level)= - 0. 17 *gestation + 14. 29( R - squared = 0. 9244). Cut - off value of AFAFP in 16 - 23 gestation were 42211. 88 ng/ mL, 35634. 28 ng/ mL,25 562. 80 ng/ mL,25 394. 18 ng/ mL,21 437. 18 ng/ mL,18 096. 75 ng/ mL,15 276. 85 ng/ mL,12 896. 35 ng/mL respectively. The detection rate was high in some particular clinical diagnosis such as anencephaly,heart bulging,encephalocele, acromphalus,stillbirth. The concentration of AFAFP did not increased with the increment of gravida age. Conclusion The study established the mathematical equation of AFAFP value and gestational age,and the median value of each gestational age. The AFAFP testing program could be used to evaluate the safety of the fetus,combing with color doppler ultrasonic testing and other comprehensive analysis of clinical indicators,it?could be use to discovery,diagnose and prevent the birth of the major malformation fetus in early pregnant,which was important to the improvement of the accuracy and sensitivity of the screening.%目的:建立各孕周羊水甲型胎儿球蛋白(amniotic fluid AFP,AFAFP)的中位数值,用于胎儿神经管缺损(neural tube defects,NTDs)的监测与诊断,并探讨 AFAFP 检测的临床价值。方法2013~2014年广西壮族自治区妇幼保健院采用酶联免疫法对具有羊膜腔穿刺指征的7336例孕妇进行 AFAFP 定量检测,筛查阳性

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

    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

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

    Institute of Scientific and Technical Information of China (English)

    邵长香; 孙路明; 邹刚; 孙琦; 周奋翮; 周艳

    2014-01-01

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

  2. 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

  3. 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

  4. 神经管缺陷胎儿和神经管缺陷胎鼠羊水蛋白质标记物的比较研究%Amniotic fluid proteomic analysis of neural tube defects using surface enhanced laser desorption/ionization time-of-flight mass spectrometry

    Institute of Scientific and Technical Information of China (English)

    刘振江; 袁正伟; 赵群; 宋丹丹

    2009-01-01

    Objective Using SELDI-TOF-MS technology to detect specific protein biomarkers in maternal anmiotic fluid of fetus with neural tube defects(NTDs)and pregnant rat amniotic fluid of fetal rat with NTDs. Methods Of the 20 maternal amniotic fluid samples obtained, 11 were from pregnant women with neural tube defects fetuses and 9 from healthy volunteers undergoing routine pregnancy μltrasonography examination. Amniotic fluid from five spina bifida, five anencephaly and one hydrencephaly pregnancies was retrieved by transabdominal amniocentesis. 45 female Wistar White rats were randomly assigned to deformity groups (n = 30) and control groups(n = 15). Pregnant Wistar rats in deformity groups were given a suspension of all-trans retinoic acid (40 mg/ml) and liquid paraffin and pregnant Wistar rats in control group were only given liquid paraffin on gestational days 10. About 0. 1 ml to 0. 3 ml Amniotic fluid of each pregnant rat was aspirated by a needle on gestational days 17. Eleven amniotic fluids of fetal rats with spina bifida and 15 normal controls were selected as experiment group for further SELDL Protein chip biosystem (PBS Ⅱ C) and CM10 chip were purchased from Ciphergen Biosystems (USA). The data were processed with the ProteinChip Software version 3. 1.1. Results A total of 35 qualified mass peaks (signal-to-noise ratio>5) were detected in maternal amniotic fluid between 1,000 and 30,000 Da. Compared with the spectra of control groups, there were 7 potential maternal amniotie fluid biomarkers detected in the spectra of the neural tube defects patients. The protein expression was high in 6 of 7 (rn/z 14 700, 7 995, 15 891, 16 027, 13 776, 11 040) and low in 1 of 7 (m/z 23 417). A total of 55 qualified mass peaks (signal-to-noise ratio>5) were detected in pregnant rat arnniotic fluid between 1,000 and 30,000. Compared with the spectra of control groups, there were 9 potential rat amniotic fluid biomarkers detected in the spectra of the neural tube defects