Structural birth defects associated with omphalocele and gastroschisis, Hawaii, 1986-2001.

Abstract:

:There is limited information on the specific structural birth defects associated with the abdominal wall defects (AWD) omphalocele and gastroschisis, particularly which defects occur with the AWD at greater than expected rates (rates among all infants and fetuses with birth defects other than the AWD). Using data from a population-based birth defects registry in Hawaii, this study calculated the rates for 48 specific structural birth defects among the AWD and compared these rates to the expected rates. There were 60 cases of omphalocele, 96 cases of gastroschisis, and 12,161 infants and fetuses with structural birth defects excluding the AWD among deliveries during 1986-2001. For omphalocele, higher than expected rates were found for 23 (47.9%) of the defects. These involved defects of a variety of organ systems. For gastroschisis, higher than expected rates were found for 8 (16.7%) of the defects, mainly neural tube defects (NTD) and specific defects of the orofacial and gastrointestinal system and the genital and urinary system. Both omphalocele and gastroschisis had elevated rates for NTD, intestinal atresia/stenosis, malrotation of intestines, obstructive genitourinary defects and limb reduction deformities. Certain specific structural birth defects occurred more often than expected with the AWD. The associated birth defects tended to vary between omphalocele and gastroschisis, although there were a few similarities. Due to the small number of cases, further research involving larger amounts of data are warranted.

journal_name

Congenit Anom (Kyoto)

journal_title

Congenital anomalies

authors

Forrester MB,Merz RD

doi

10.1111/j.1741-4520.2008.00184.x

subject

Has Abstract

pub_date

2008-06-01 00:00:00

pages

87-91

issue

2

eissn

0914-3505

issn

1741-4520

pii

CGA184

journal_volume

48

pub_type

杂志文章
  • Folic acid in the prevention of neural tube defects: awareness among laywomen and healthcare providers in Japan.

    abstract::It is known that neural tube defects are folic acid preventable congenital anomalies. We investigated to what extent this information was disseminated among laywomen and healthcare providers. Questionnaire studies were conducted twice, in 2002 and 2007, for four groups of laywomen and seven groups of healthcare provid...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2009.00232.x

    authors: Kondo A,Yamamoto S,Inoue H,Watanabe J,Tada K,Yoshimoto N

    更新日期:2009-09-01 00:00:00

  • EFNB1 mutation at the ephrin ligand-receptor dimerization interface in a patient with craniofrontonasal syndrome.

    abstract::Craniofrontonasal syndrome (CFNS) is characterized by craniosynostosis, hypertelorism, a broad nasal tip and occasionally cleft lip and palate, and is caused by a mutation in the ephrin-B1 gene (EFNB1). The study of naturally occurring human EFNB1 mutations offers a unique opportunity to better define the critical por...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2006.00140.x

    authors: Torii C,Izumi K,Nakajima H,Takahashi T,Kosaki K

    更新日期:2007-03-01 00:00:00

  • Assisted reproductive technologies and birth defects.

    abstract::In vitro fertilization (IVF) and other assisted reproductive technologies (ART) are effective treatments for infertility and are widely provided at infertility clinics. Although IVF and related ART procedures are generally considered safe, some studies have suggested an excess occurrence of major malformations, low bi...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/j.1741-4520.2005.00061.x

    authors: Shiota K,Yamada S

    更新日期:2005-06-01 00:00:00

  • Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients.

    abstract::Many new microdeletion syndromes have been characterized in the past decade, including 2p15-p16.1 microdeletion syndrome. More than 10 patients with this syndrome have been described. Recently, we encountered two additional patients with 2p15-p16.1 microdeletion syndrome. All patients showed variable degrees of intell...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12112

    authors: Shimojima K,Okamoto N,Yamamoto T

    更新日期:2015-08-01 00:00:00

  • Cerebro-costo-mandibular syndrome: prognosis and proposal for classification.

    abstract::Cerebro-costo-mandibular syndrome (CCMS) is a very rare syndrome characterized by micrognathia and posterior rib gap, with a poor prognosis. To date, only 75 cases have been reported worldwide. The overall survival rate for patients with this disorder has not been reported, and a classification of the patients on the ...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2010.00281.x

    authors: Nagasawa H,Yamamoto Y,Kohno Y

    更新日期:2010-09-01 00:00:00

  • Bifid choroid plexus: always a normal fetal brain structure variant?

    abstract::Choroid plexus, a fetal organ developing approximately from the sixth week of gestation, plays a fundamental role in developing fetal brain organization. As relatively little is known about the relationship between anomalies of choroid plexuses structure and their role in brain function, we examined cases of bifid cho...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12006

    authors: Centini G,Imperatore A,Morelli M,Rosignoli L,Passamonti U,Caprioli F,Lituania M

    更新日期:2013-06-01 00:00:00

  • Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly.

    abstract::The WDR62 gene encodes a scaffold protein of the c-Jun N-terminal kinase (JNK) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting from WDR62 mutations. These mutations are associated with autosomal rece...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12144

    authors: Bastaki F,Mohamed M,Nair P,Saif F,Tawfiq N,Aithala G,El-Halik M,Al-Ali M,Hamzeh AR

    更新日期:2016-05-01 00:00:00

  • Historical control data on developmental toxicity studies in rodents.

    abstract::Historical control data on rodent developmental toxicity studies, performed between 1994 and 2010, were obtained from 19 laboratories in Japan, including 10 pharmaceutical and chemical companies and nine contract research organizations. Rats, mice, and hamsters were used for developmental toxicity studies. Data includ...

    journal_title:Congenital anomalies

    pub_type: 历史文章,杂志文章

    doi:10.1111/cga.12050

    authors: Ema M,Endoh K,Fukushima R,Fujii S,Hara H,Hirata-Koizumi M,Hirose A,Hojo H,Horimoto M,Hoshino N,Hosokawa Y,Imai Y,Inada H,Inawaka K,Itoh K,Katsumata Y,Izumi H,Kato H,Maeda M,Matsumoto K,Matsuo S,Matsuoka T,Mats

    更新日期:2014-08-01 00:00:00

  • Prevalence of orofacial clefts and risks for nonsyndromic cleft lip with or without cleft palate in newborns at a university hospital from West Mexico.

    abstract::We determined the overall prevalence of typical orofacial clefts and the potential risks for nonsyndromic cleft lip with or without cleft palate in a university hospital from West México. For the prevalence, 227 liveborn infants with typical orofacial clefts were included from a total of 81,193 births occurred during ...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12276

    authors: Corona-Rivera JR,Bobadilla-Morales L,Corona-Rivera A,Peña-Padilla C,Olvera-Molina S,Orozco-Martín MA,García-Cruz D,Ríos-Flores IM,Gómez-Rodríguez BG,Rivas-Soto G,Pérez-Molina JJ

    更新日期:2018-07-01 00:00:00

  • Understanding heart development and congenital heart defects through developmental biology: a segmental approach.

    abstract::ABSTRACT The heart is the first organ to form and function during development. In the pregastrula chick embryo, cells contributing to the heart are found in the postero-lateral epiblast. During the pregastrula stages, interaction between the posterior epiblast and hypoblast is required for the anterior lateral plate m...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2005.00079.x

    authors: Sakabe M,Matsui H,Sakata H,Ando K,Yamagishi T,Nakajima Y

    更新日期:2005-12-01 00:00:00

  • Precurrence risk of birth defects in Hawaii.

    abstract::The aim of the investigation was to describe the risk of selected types of birth defects among older siblings of infants and fetuses with specific birth defects. Using data from a population-based birth defects registry in Hawaii for deliveries during 1986-2000, the precurrence risk (risk among older siblings) for any...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2007.00173.x

    authors: Forrester MB,Merz RD

    更新日期:2008-03-01 00:00:00

  • Magnetic resonance imaging based correlation analysis between calcarine sulcus development and isolated fetal ventriculomegaly.

    abstract::Fetal ventriculomegaly development leads to neurological, motor, and/or cognitive impairment, and is presently diagnosed based on the width of the atrium in the lateral ventricle. But in this study, we have tried to assess the relationship between the development of calcarine sulcus and width of fetal lateral ventricl...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12197

    authors: Li H,Liang H,Wu H

    更新日期:2017-03-01 00:00:00

  • Congenital diseases and semaphorin signaling: overview to date of the evidence linking them.

    abstract::Semaphorins and their receptors, neuropilins and plexins, were initially characterized as a modulator of axonal guidance during development, but are now recognized as a regulator of a wide range of developmental events including morphogenesis and angiogenesis, and activities of the immune system. Owing to the developm...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12095

    authors: Masuda T,Taniguchi M

    更新日期:2015-02-01 00:00:00

  • Using zebrafish in systems toxicology for developmental toxicity testing.

    abstract::With the high cost and the long-term assessment of developmental toxicity testing in mammals, the vertebrate zebrafish has become a useful alternative model organism for high-throughput developmental toxicity testing. Zebrafish is also very favorable for the 3R perspective in toxicology; however, the methodologies use...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12142

    authors: Nishimura Y,Inoue A,Sasagawa S,Koiwa J,Kawaguchi K,Kawase R,Maruyama T,Kim S,Tanaka T

    更新日期:2016-01-01 00:00:00

  • Developmental toxicity of indium: embryotoxicity and teratogenicity in experimental animals.

    abstract::Indium, a precious metal classified in group 13 (IIIB) in the periodic table, has been used increasingly in the semiconductor industry. Because indium is a rare metal, technology for indium recycling from transparent conducting films for liquid crystal displays is desired, and its safety evaluation is becoming increas...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/j.1741-4520.2008.00197.x

    authors: Nakajima M,Usami M,Nakazawa K,Arishima K,Yamamoto M

    更新日期:2008-12-01 00:00:00

  • Association between antidepressant use during pregnancy and congenital anomalies in children: A retrospective cohort study based on Japanese claims data.

    abstract::Certain studies previously pointed out that treating pregnant women with antidepressants may increase risks of congenital anomalies in their children. However, to date, the study results are not conclusive. Furthermore, most studies have been performed using data from Western countries; therefore, we examined this ass...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12386

    authors: Yamamoto-Sasaki M,Yoshida S,Takeuchi M,Tanaka-Mizuno S,Kawakami K

    更新日期:2020-11-01 00:00:00

  • Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.

    abstract::We present a case of a patient whose L1CAM gene in X-chromosome has a C924T transition. Her first son's ventriculomegaly was prenatally detected. A mature infant was born, his head circumference was large, and thumbs were bilaterally adducted. X-linked hydrocephalus (XLH) was suspected. The DNA examination revealed th...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12069

    authors: Serikawa T,Nishiyama K,Tohyama J,Tazawa R,Goto K,Kuriyama Y,Haino K,Kanemura Y,Yamasaki M,Nakata K,Takakuwa K,Enomoto T

    更新日期:2014-11-01 00:00:00

  • Drug safety in pregnancy: utopia or achievable prospect? Risk information, risk research and advocacy in Teratology Information Services.

    abstract::Even though from preclinical testing to drug risk labeling, the situation with drugs in pregnancy has improved substantially since the thalidomide scandal, there is still an increasing need to provide healthcare professionals and patients with updated individualized risk information for clinical decision making. For t...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/j.1741-4520.2010.00308.x

    authors: Schaefer C

    更新日期:2011-03-01 00:00:00

  • Human diseases caused by germline and somatic abnormalities in microRNA and microRNA-related genes.

    abstract::The human genome harbors approximately 2000 genes that encode microRNAs (miRNAs), small non-coding RNAs of approximately 20-22 nt that mediate post-transcriptional gene silencing. MiRNAs are generated from long transcripts through stepwise processing by the Drosha/DGCR8, Exportin-5/RanGTP and Dicer/TRBP complexes. Giv...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12043

    authors: Kawahara Y

    更新日期:2014-02-01 00:00:00

  • Deletion involving the TWIST locus and the HOXA cluster: a contiguous gene syndrome on 7p?

    abstract::Deletion of TWIST on 7p21 leads to Saethre-Chotzen syndrome, whereas deletion of the HOXA cluster on 7p15.2 leads to hand-foot-genital syndrome. We report here a patient with 46,XY,del(7)(p15.2p21) who had craniosynostosis, maxillary hypoplasia, prominent ear crus, rectoperineal fistula, and hypoplastic fifth fingers....

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2005.00059.x

    authors: Kosaki R,Higuchi M,Mitsui N,Matsushima K,Ohashi H,Kosaki K

    更新日期:2005-03-01 00:00:00

  • Neuroanatomic and magnetic resonance imaging references for normal development of cerebral sulci of laboratory primate, cynomolgus monkeys (Macaca fascicularis).

    abstract::Cynomolgus monkey (Macaca fascicularis) is a popular laboratory primate belonging to Old World monkeys, which are the group most closely related to humans except for the apes. This paper summarizes a series of our studies regarding the development of cerebral sulci and gyri in this primate, and the stated possibility ...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/j.1741-4520.2011.00352.x

    authors: Sawada K,Fukunishi K,Kashima M,Imai N,Saito S,Sakata-Haga H,Aoki I,Fukui Y

    更新日期:2012-03-01 00:00:00

  • Developmental toxicity of flucytosine following administration to pregnant rats at a specific time point of organogenesis.

    abstract::To investigate the abnormalities that are specific to administration of flucytosine at one time point during embryonic organogenesis, flucytosine was administered orally to pregnant Sprague Dawley (SD) rats in a single dose on day 11 of pregnancy at 25 or 35 mg/kg. Fetuses on day 20 of pregnancy were externally, visce...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/cga.12282

    authors: Fujii S,Yabe K,Kariwano-Kimura Y,Furukawa M,Itoh K,Matsuura M,Horimoto M

    更新日期:2019-03-01 00:00:00

  • Congenital eye anomalies: More mosaic than thought?

    abstract::The eye is a sensory organ that primarily captures light and provides the sense of sight, as well as delivering non-visual light information involving biological rhythms and neurophysiological activities to the brain. Since the early 1990s, rapid advances in molecular biology have enabled the identification of develop...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12304

    authors: Ohuchi H,Sato K,Habuta M,Fujita H,Bando T

    更新日期:2019-05-01 00:00:00

  • In vitro models of pancreatic differentiation using embryonic stem or induced pluripotent stem cells.

    abstract::Embryonic stem (ES) cells or induced pluripotent stem (iPS) cells are expected as a surrogate cell source for regenerative medicine. Many researchers have reported the differentiation method of insulin-expressing pancreatic β cells from ES or iPS cells. However, the detailed molecular mechanisms underlying the differe...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/j.1741-4520.2010.00307.x

    authors: Higuchi Y,Shiraki N,Kume S

    更新日期:2011-03-01 00:00:00

  • Significance of sugar chain recognition by galectins and its involvement in disease-associated glycosylation.

    abstract::Galectins are β-galactoside-binding lectins that participate in a wide range of biological processes. Galectins are distributed both inside and outside cells and are believed to have roles in both intra- and extracellular milieus. One of the well-recognized functions of galectins is stabilization of glycoproteins on t...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12055

    authors: Arikawa T,Simamura E,Shimada H,Nakamura T,Hatta T,Shoji H

    更新日期:2014-05-01 00:00:00

  • Neural tube defects: Risk factors and preventive measures.

    abstract::For the last 25 years, it has been proven that the occurrence or recurrence of neural tube defects can be prevented with the administration of folic acid before and early pregnancy. At present, over 80 countries in the world, except Japan, have mandated the fortification of wheat flour and/or rice with folic acid, whi...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12227

    authors: Kondo A,Matsuo T,Morota N,Kondo AS,Okai I,Fukuda H

    更新日期:2017-09-01 00:00:00

  • The dopaminergic system in attention deficit/hyperactivity disorder.

    abstract::Numerous studies have shown the importance of the mesocorticolimbic dopamine system in the pathophysiology of attention deficit/hyperactivity disorder. However, there has been inconsistency in the findings of those studies. Varied and sometimes contradictory interpretation has been made on the basis of similar results...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/j.1741-4520.2003.tb01035.x

    authors: Ohno M

    更新日期:2003-06-01 00:00:00

  • Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis.

    abstract::We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped epiphyses, clinobrachydactyly, epiphyseal changes in the femoral head and short stature), and appendicular exostoses similar to trichorhinophalangea...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2007.00155.x

    authors: Kikuchi N,Ogino T,Kashiwa H,Muragaki Y

    更新日期:2007-09-01 00:00:00

  • Heart changes in 17-day-old fetuses of diabetic ICR (Institute of Cancer Research) mothers: improvement with maternal immune stimulation.

    abstract::Maternal diabetes mellitus is associated with increased fetal teratogenesis, including cardiovascular defects. Non-specific maternal immune stimulation with Freund's complete adjuvant (FCA) or interferon gamma (IFNgamma) has been associated with protection against birth malformations. Using a diabetic mouse model, lat...

    journal_title:Congenital anomalies

    pub_type: 杂志文章

    doi:10.1111/j.1741-4520.2008.00213.x

    authors: Claudio Gutierrez J,Prater MR,Hrubec TC,Smith BJ,Freeman LE,Holladay SD

    更新日期:2009-03-01 00:00:00

  • Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.

    abstract::We describe a novel de novo heterozygous variant in SYNGAP1 (c.1741C>T, p.R581W), identified through targeted resequencing in an 8-year-old boy with intellectual disability, autism spectrum disorder, distinctive dysmorphic features, and no seizures. Our data strongly suggest that the SYNGAP1 variant is causative of in...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审

    doi:10.1111/cga.12273

    authors: Kimura Y,Akahira-Azuma M,Harada N,Enomoto Y,Tsurusaki Y,Kurosawa K

    更新日期:2018-11-01 00:00:00