Teratology最新文献

{"title":"Birth defects surveillance data from selected states, 1995-1999.","authors":"","doi":"10.1002/tera.90013","DOIUrl":"https://doi.org/10.1002/tera.90013","url":null,"abstract":"","PeriodicalId":22211,"journal":{"name":"Teratology","volume":"66 Suppl 1 ","pages":"S129-211"},"PeriodicalIF":0.0,"publicationDate":"2002-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/tera.90013","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21997974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Contribution of birth defects to infant mortality in the United States.","authors":"Joann Petrini,&nbsp;Karla Damus,&nbsp;Rebecca Russell,&nbsp;Karalee Poschman,&nbsp;Michael J Davidoff,&nbsp;Donald Mattison","doi":"10.1002/tera.90002","DOIUrl":"https://doi.org/10.1002/tera.90002","url":null,"abstract":"<p><strong>Background: </strong>While overall infant mortality rates (IMR) have declined over the past several decades, birth defects have remained the leading cause of infant death in the United States. To illustrate how this leading cause of infant mortality impacts subgroups within the US population a descriptive analysis of the contribution of birth defects to infant mortality at the national and state level was conducted.</p><p><strong>Methods: </strong>Descriptive analyses of birth defects-specific IMRs and proportionate infant mortality due to birth defects were conducted for the US using 1999 mortality data from the National Center for Health Statistics. In 1999, the change to ICD-10 impacted how cause-specific mortality rates were coded. Aggregated 1995-1998 state- birth defects infant death statistics were used for state comparisons.</p><p><strong>Results: </strong>In 1999, birth defects accounted for nearly 1 in 5 infant deaths in the US. Variation in birth defects-specific IMRs were observed by maternal race with black infants having the highest rates when compared with other race groups. However, among black infants prematurity/low birthweight was the leading cause of death, followed by birth defects. There is substantial variation in state-specific birth defects IMRs and the state-specific proportion of infant deaths due to birth defects.</p><p><strong>Conclusions: </strong>Birth defects remain the leading cause of infant death in the United States, despite the changes that resulted in 1999 from an update in the coding of cause of death from ICD-9 to ICD-10. While birth defects-specific IMRs provide an overall picture of fatal birth defects and a gauge of the impact of life-threatening anomalies, they represent only a fraction of the impact of birth defects, missing those who survive past infancy and those birth defects related losses in the antepartum period. Expansion and support of effective birth defects monitoring systems in each state that include the full spectrum of perinatal outcomes must be a priority. However, paralleling these efforts, analyses of this leading cause of infant mortality provide critical insight into perinatal health and should continue, with appropriate adjustments for the 1999 classification changes.</p>","PeriodicalId":22211,"journal":{"name":"Teratology","volume":"66 Suppl 1 ","pages":"S3-6"},"PeriodicalIF":0.0,"publicationDate":"2002-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/tera.90002","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21997499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of including elective pregnancy terminations before 20 weeks gestation on birth defect rates.","authors":"Mary K Ethen,&nbsp;Mark A Canfield","doi":"10.1002/tera.90008","DOIUrl":"https://doi.org/10.1002/tera.90008","url":null,"abstract":"<p><strong>Background: </strong>The majority of U.S. birth defects surveillance programs do not include elective terminations before 20 weeks gestation among the pregnancy outcomes covered. To assess the impact of defects among elective terminations before 20 weeks gestation, data from a birth defects registry that does include terminations before 20 weeks gestation were analyzed.</p><p><strong>Methods: </strong>Using information from the Texas Birth Defects Registry, the number of cases and rate of 49 conditions were analyzed in two ways: excluding defects detected among elective pregnancy terminations before 20 weeks gestation, and including defects among terminations before 20 weeks.</p><p><strong>Results: </strong>By including defects detected among elective terminations before 20 weeks, the number of cases increased by five percent or greater for nine conditions: anencephaly (29%); spina bifida without anencephaly (13%); encephalocele (21%); Patau syndrome (19%); Edwards syndrome (11%); Down syndrome (6%); omphalocele (15%); gastroschisis (5%); and anophthalmia (7%). There was no impact for 27 conditions, for which there were no cases detected among elective terminations before 20 weeks. The greatest impact was observed for anencephaly; the rate of anencephaly increased from 2.76 to 3.56 per 10,000 live births when defects among elective terminations before 20 weeks were included.</p><p><strong>Conclusions: </strong>Excluding defects among elective terminations before 20 weeks results in counts and rates that are somewhat incomplete, especially for conditions that are more commonly detected and electively terminated before 20 weeks. The impact varies by condition.</p>","PeriodicalId":22211,"journal":{"name":"Teratology","volume":"66 Suppl 1 ","pages":"S32-5"},"PeriodicalIF":0.0,"publicationDate":"2002-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/tera.90008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21998008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Tolbutamide alters glucose transport and metabolism in the embryonic mouse heart.","authors":"I. Smoak","doi":"10.1002/TERA.1094","DOIUrl":"https://doi.org/10.1002/TERA.1094","url":null,"abstract":"BACKGROUND Tolbutamide is a sulfonylurea oral hypoglycemic agent widely used for the treatment of non insulin-dependent diabetes mellitus. Tolbutamide produces dysmorphogenesis in rodent embryos and becomes concentrated in the embryonic heart after maternal oral dosing. Tolbutamide increases glucose metabolism in extra-pancreatic adult tissues, but this has not previously been examined in embryonic heart. METHODS CD-1 mouse embryos were exposed on GD 9.5 to tolbutamide (0, 100, 250, or 500 microg/ml) for 6, 12, or 24 hr in whole-embryo culture. Isolated hearts were evaluated for (3)H-2DG uptake and conversion of (14)C-glucose to (14)C-lactate. Glut-1, HKI, and GRP78 protein levels were determined by Western analysis, and Glut-1 mRNA was measured by RT-PCR. RESULTS Cardiac (3)H-2DG uptake increased after exposure to 500 microg/ml tolbutamide for 6 hr, and 100, 250, or 500 microg/ml tolbutamide for 24 hr, compared to controls. Glycolysis increased after exposure to 500 microg/ml tolbutamide for 6 or 24 hr compared to controls. Glut-1 protein levels increased in hearts exposed to 500 microg/ml tolbutamide for 12 or 24 hr, and Glut-1 mRNA increased in hearts exposed to 500 microg/ml tolbutamide for 24 hr compared to controls. HKI protein levels increased in hearts exposed to 500 microg/ml tolbutamide for 6 hr, but not 12 or 24 hr. There was no effect on GRP78 protein levels in hearts exposed to tolbutamide for 6, 12, or 24 hr. CONCLUSIONS Tolbutamide stimulates glucose uptake and metabolism in the embryonic heart, as occurs in adult extra-pancreatic tissues. Glut-1 and HKI, but not GRP78, are likely involved in tolbutamide-induced cardiac dysmorphogenesis.","PeriodicalId":22211,"journal":{"name":"Teratology","volume":"50 1","pages":"19-25"},"PeriodicalIF":0.0,"publicationDate":"2002-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77708685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pregnancy outcome post renal transplantation.","authors":"M. Sgro, T. Barozzino, H. Mirghani, M. Sermer, L. Moscato, H. Akoury, G. Koren, D. Chitayat","doi":"10.1002/TERA.1092","DOIUrl":"https://doi.org/10.1002/TERA.1092","url":null,"abstract":"BACKGROUND The success in performing organ transplantations and prevention of rejection has resulted not only in a substantial increase in life expectancy, but also improvement in the patients' quality of life. Thus, women who underwent organ transplantation are now reaching puberty and the age of reproduction. This has presented new challenges regarding the teratogenicity and the long-term effect of immunosuppressive medications used by these patients. Previous studies have shown that pregnancies after renal transplantation are associated with an increased risk for both the mother and the fetus. There is, however, very little information available on neonatal and long-term pediatric follow-up of babies born to mothers who have undergone renal transplantation and have been exposed to immunosuppressive medications, compared to controls. We report the experience of our center, the largest in Canada, regarding the prenatal and long-term postnatal outcome of pregnancies after renal transplantation. METHODS This is a retrospective case series reporting the outcome of 44 consecutive pregnancies followed by the Toronto Renal Transplant Program. Follow-up data were gathered on the 32 live born children by either a return visit to the clinic or by telephone interview. Medical, as well as developmental information, was gathered on all children and the study group was compared to controls, matched for maternal age (+/-2 years) and smoking status, obtained through the Motherisk Program. RESULTS Of the 44 pregnancies followed by us, there were 32 live-born children delivered by 26 mothers and 12 stillborn/abortuses. Twenty-six pregnancies were treated with cyclosporine, azathioprine and prednisone, 13 with azathioprine and prednisone and five with cyclosporine and prednisone. The mean gestational age at delivery in the study group was 36.5 +/- 2.7 weeks compared to 40.2 +/- 1.6 weeks in the control group (P < 0.001). The mean birthweight in the study group was 2.54 +/- 0.67 kg, compared to 3.59 +/- 0.53 kg in the control group (P < 0.0001). In the study group there was one child with multiple anomalies and four stillbirths compared to zero in the control group. There were also six spontaneous abortions and two therapeutic abortions in the study group. On follow-up (from 3 months to 11 years of age) there was one child with insulin-dependent diabetes mellitus, two children with asthma and one child with recurrent otitis media. Developmental follow-up revealed one child with moderate to severe sensorineural hearing loss, one child with a learning disability and one child with pervasive developmental disorder. In none of these cases were there signs of perinatal asphyxia. CONCLUSION There are significantly more stillbirths, preterm deliveries and increased incidence of low birth weight in the transplant group. Most pregnancies in the study group went well, however, and their offspring had normal postnatal growth and development. Further studies with long-t","PeriodicalId":22211,"journal":{"name":"Teratology","volume":"17 1","pages":"5-9"},"PeriodicalIF":0.0,"publicationDate":"2002-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87876649","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A multiple source methodology for the surveillance of fetal alcohol syndrome--The Fetal Alcohol Syndrome Surveillance Network (FASSNet).","authors":"Karen Hymbaugh,&nbsp;Lisa A Miller,&nbsp;Charlotte M Druschel,&nbsp;Danise W Podvin,&nbsp;F John Meaney,&nbsp;Coleen A Boyle","doi":"10.1002/tera.90010","DOIUrl":"https://doi.org/10.1002/tera.90010","url":null,"abstract":"","PeriodicalId":22211,"journal":{"name":"Teratology","volume":"66 Suppl 1 ","pages":"S41-9"},"PeriodicalIF":0.0,"publicationDate":"2002-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/tera.90010","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21998010","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A record of fish anomalies from Benghazi area, Libya.","authors":"L. Jawad","doi":"10.1002/TERA.1090","DOIUrl":"https://doi.org/10.1002/TERA.1090","url":null,"abstract":"","PeriodicalId":22211,"journal":{"name":"Teratology","volume":"37 1","pages":"1-2"},"PeriodicalIF":0.0,"publicationDate":"2002-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86646427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pregnancy outcome distribution and prenatal diagnosis of autosomal abnormalities, Hawaii, 1986-1999.","authors":"Mathias B Forrester,&nbsp;Ruth D Merz","doi":"10.1002/tera.90003","DOIUrl":"https://doi.org/10.1002/tera.90003","url":null,"abstract":"<p><strong>Background: </strong>Approximately 10% of birth defects result from chromosomal abnormalities. This study investigated the pregnancy outcome distribution of autosomal abnormalities and impact of prenatal diagnosis on autosomal abnormalities.</p><p><strong>Methods: </strong>Data were obtained from a population-based birth defects registry and included all autosomal abnormalities delivered in Hawaii during 1986-1999.</p><p><strong>Results: </strong>There were 1,015 autosomal abnormality cases, consisting of 523 (52%) live births, 38 (4%) late fetal deaths, 187 (18%) early fetal deaths, 265 (26%) elective terminations, and 2 unknown pregnancy outcome. Live births comprised the majority of translocations (81%), inversions (93%), and deletions (84%) but a smaller proportion of trisomies (42%). Autosomal abnormalities were prenatally diagnosed in 489 (48%) of the cases, of which 243 (50%) were subsequently electively terminated. By type of autosomal abnormality, prenatal diagnosis rates were trisomy (44%), translocation (68%), inversion (91%), deletion (29%), and subsequent elective termination rates were trisomy (73%), translocation (11%), inversion (4%), deletion (50%). The prenatal diagnosis rate was higher for maternal age 35 years or greater than for maternal age less than 35 years (relative risk (RR) 1.8, 95% confidence interval (CI) 1.6-2.0), as was the elective termination rate (RR 1.3, 95% CI 1.1-1.6). The prenatal diagnosis rate was higher in 1993-1999 than in 1986-1992 (RR 1.2, 95% CI 1.1-1.4), although there was no statistically significant difference between the two time periods for subsequent elective termination rate (RR 0.9, 95% CI 0.8-1.1).</p><p><strong>Conclusions: </strong>Pregnancy outcome distribution, prenatal diagnosis rates, and subsequent elective terminations rates vary by type of autosomal abnormality.</p>","PeriodicalId":22211,"journal":{"name":"Teratology","volume":"66 Suppl 1 ","pages":"S7-11"},"PeriodicalIF":0.0,"publicationDate":"2002-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/tera.90003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21997500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Decreasing prevalence of neural tube defects in Utah, 1985-2000.","authors":"Marcia Feldkamp,&nbsp;Michael Friedrichs,&nbsp;John C Carey","doi":"10.1002/tera.90006","DOIUrl":"https://doi.org/10.1002/tera.90006","url":null,"abstract":"<p><strong>Background: </strong>The Utah Birth Defect Network, a statewide surveillance program based in the Utah Department of Health, monitors the occurrence of all neural tube defects (NTDs). Retrospectively and prospectively population-based data was utilized to assess the trend in prevalence for NTDs in Utah from 1985-2000.</p><p><strong>Methods: </strong>The Utah Birth Defect Network (UBDN) has prospectively identified NTDs in Utah since 1994. NTD cases, including meningomyelocele, meningocele, anencephaly (including exencephaly), encephalocele and craniorachischisis, born to women who are residents of Utah at delivery are reviewed by a pediatric geneticist. All NTDs occurring from 1985-1993 were ascertained retrospectively and documented to be a case. NTDs from all pregnancy outcomes are included (live births, stillbirths and pregnancy terminations) during the entire study period.</p><p><strong>Results: </strong>NTDs in Utah have decreased significantly between 1985-2000 and remain at the lowest prevalence over the last three of those years. The most significant decrease was seen from 1993-2000. The downward trend was demonstrable for anencephaly and meningomyelocele but not for encephalocele. The proportion of NTDs diagnosed prenatally, as well as those pregnancies terminated after prenatal diagnosis have remained constant, without any evidence of an increasing trend since 1990. However, the proportion of pregnancy terminations occurring prior to twenty weeks gestation has increased significantly since 1990.</p><p><strong>Conclusions: </strong>The reason for the observed decrease is not known but is likely the result of simultaneous prevention activities locally and nationally, the Utah population's propensity for vitamin and supplement consumption, and recent food fortification. The Centers for Disease Control and Prevention recommended in 1992 that all women in their childbearing years take folic acid daily. The Utah Folic Acid Educational Campaign targeted all women of childbearing years beginning in 1996 with this message. Additionally, fortification of grains was voluntary from 1996, became mandatory in 1998 at which point NTD prevalence declined to its lowest level. These factors may have collectively contributed to the reduction observed in NTD prevalence within Utah, demonstrating the positive impact of an important public health endeavor.</p>","PeriodicalId":22211,"journal":{"name":"Teratology","volume":"66 Suppl 1 ","pages":"S23-8"},"PeriodicalIF":0.0,"publicationDate":"2002-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/tera.90006","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21998006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of VLA-4 antagonists in rat whole embryo culture.","authors":"S. Spence, C. Vetter, W. Hagmann, G. van Riper, H. Williams, R. Mumford, T. Lanza, L. Lin, John A. Schmidt","doi":"10.1002/TERA.1095","DOIUrl":"https://doi.org/10.1002/TERA.1095","url":null,"abstract":"BACKGROUND Pharmacological antagonism of VLA-4 (Very Late Antigen 4, alpha(4)beta(1) integrin) has become an attractive target for the treatment of predominantly eosinophil mediated disease states such as asthma, allergic rhinitis, multiple sclerosis, rheumatoid arthritis, diabetes, and inflammatory bowel disease. Gene knockouts of the alpha(4)-integrin subunit of VLA-4 or its cell surface ligand, VCAM-1, however, have been shown to result in embryo-lethality in homozygous null mice due to defects in chorio-allantoic or epi-myocardial fusion. Although gene knockout phenotypes are not always manifested by pharmacological antagonism, those studies suggested that VLA-4 antagonists might cause embryo-lethality or drug-induced malformations. METHODS To test these concepts, early neurulating rat embryos were cultured by the methods of New ('78) after intra-coelomic microinjection of a VLA-4 blocking antibody or in the presence of small molecule VLA-4 antagonists. RESULTS Defects in chorio-allantoic fusion were induced after microinjection of VLA4 blocking antibody and after continuous exposure to small molecule antagonists. In a minority of affected embryos chorio-allantoic fusion was completely blocked whereas the majority of affected embryos had only superficial chorio-allantoic fusion and the allantois was enlarged and edematous. Although the allantoic mesoderm covered the trophoblasts of the chorionic plate and contained blood vessels there was only minimal invasion of the trophoblasts by the allantoic mesoderm. The lowest observed effect level generally correlated with the IC(approximately 95), as determined in 90% plasma. DISCUSSION Based on these data, VLA-4 antagonism might represent a significant risk to the developing embryo/fetus. In vitro exposure, however, is \"constant\" and does not take into account the elimination phase of these xenobiotics in vivo. Given the high concentrations required to elicit an effect, therapeutic blood levels in vivo may be several fold lower than those that affect the conceptus, depending on the tissue penetration of the compound and the route of administration. VLA-4 also exists in a range of conformations and activation states in vivo and the gene KOs and present studies do not define whether these developmental processes are dependent upon a particular activation state of VLA-4. Therefore, state-selective antagonists may have an improved embryonic safety profile. Additional studies will be required to determine potential effects of VLA-4 antagonists on embryo/fetal development in vivo.","PeriodicalId":22211,"journal":{"name":"Teratology","volume":"114 1","pages":"26-37"},"PeriodicalIF":0.0,"publicationDate":"2002-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77749926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}