Pub Date : 2001-06-01DOI: 10.1111/j.1741-4520.2001.tb00824.x
A. Czeizel
Congenital abnormalities, i. e., structural congenital anomalies (the term birth defect is used in the USA) have two important distinguishing features: very early onset and defect condition therefore we have limited chance for complete recovery after medical intervention. For congenital abnormalities, therefore, prevention has the highest priority. In the past experts, mainly medical doctors had a pessimistic view concerning the prevention of congenital abnormalities. To tell the truth the contribution of primary prevention (i.e., the avoidance or neutralisation of causal factors) was small in the last decades because it was limited mainly to avoiding the recurrence of single gene defects by genetic counselling, teratogens due to rubella vaccination and the adverse effects of maternal disorders, e.g., diabetes mellitus (Czeizel et al., 1993). Among methods of secondary prevention, neonatal screening for phenylketonuria, congenital hypothyroidism and others is effective but these diseases occur infrequently. Another kind of the so-called secondary prevention is the detection of fetal defects followed by selective abortion; this activity and efficacy are growing dramatically. However, the question is whether the devastation of affected fetuses is a prevention or a particular form of euthanasia. Neural-tube defects can demonstrate this serious dilemma. In the 1980s, the introduction of maternal serum alpha-fetoprotein screening complemented with the ultrasound scanning provided an efficient method for the detection of anencephaly, encepholecele and spina bifida aperta/cystica. After this, however, informed potential parents have to choose between two evils, i.e., two bed things: to terminate their pregnancy which was planned but surely wanted that time of gestation or to have a seriously malformed baby with long-term medical and social consequences. At present the termination of pregnancy is the lesser evil for the great majority of European women.We have to accept their decision but we have to know that the selective abortion of a seriously affected fetus should be considered as a last resort rather than an optimal solution because actually it equals to the killing of a human being. The growing proportion of selective abortions overshadows the progress and the increas-
{"title":"Primary prevention of congenital abnormalities","authors":"A. Czeizel","doi":"10.1111/j.1741-4520.2001.tb00824.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.2001.tb00824.x","url":null,"abstract":"Congenital abnormalities, i. e., structural congenital anomalies (the term birth defect is used in the USA) have two important distinguishing features: very early onset and defect condition therefore we have limited chance for complete recovery after medical intervention. For congenital abnormalities, therefore, prevention has the highest priority. In the past experts, mainly medical doctors had a pessimistic view concerning the prevention of congenital abnormalities. To tell the truth the contribution of primary prevention (i.e., the avoidance or neutralisation of causal factors) was small in the last decades because it was limited mainly to avoiding the recurrence of single gene defects by genetic counselling, teratogens due to rubella vaccination and the adverse effects of maternal disorders, e.g., diabetes mellitus (Czeizel et al., 1993). Among methods of secondary prevention, neonatal screening for phenylketonuria, congenital hypothyroidism and others is effective but these diseases occur infrequently. Another kind of the so-called secondary prevention is the detection of fetal defects followed by selective abortion; this activity and efficacy are growing dramatically. However, the question is whether the devastation of affected fetuses is a prevention or a particular form of euthanasia. Neural-tube defects can demonstrate this serious dilemma. In the 1980s, the introduction of maternal serum alpha-fetoprotein screening complemented with the ultrasound scanning provided an efficient method for the detection of anencephaly, encepholecele and spina bifida aperta/cystica. After this, however, informed potential parents have to choose between two evils, i.e., two bed things: to terminate their pregnancy which was planned but surely wanted that time of gestation or to have a seriously malformed baby with long-term medical and social consequences. At present the termination of pregnancy is the lesser evil for the great majority of European women.We have to accept their decision but we have to know that the selective abortion of a seriously affected fetus should be considered as a last resort rather than an optimal solution because actually it equals to the killing of a human being. The growing proportion of selective abortions overshadows the progress and the increas-","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2001-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86727324","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}
Pub Date : 2001-06-01DOI: 10.1111/j.1741-4520.2001.tb00821.x
M. Ema, E. Miyawaki
ABSTRACT In our previous studies, an administration of triphenyltin chloride (TPTCl) at 4.7 or 6.3 mg/kg on days 0–3 of pregnancy caused implantation failure, and the same doses of TPTCl on days 0–3 of pseudopregnancy caused a suppression of uterine decidualization correlated with a reduction in serum progesterone levels in rats. This study was conducted to determine the roles of progesterone on the TPTCl‐induced suppression of uterine decidualization and implantation failure in rats. Although lower uterine weight was found in hormone‐maintained ovariectomized rats given TPTCl at 4.7 or 6.3 mg/kg on days 0–3 and induced decidual cell response on day 4, no statistical significance in the uterine weight was detected between the control group and the TPTCl‐treated groups. The pregnancy rate and number of implantations in the groups given TPTCl at 4.7 or 6.3 mg/kg on days 0–3 of pregnancy and progesterone on days 0–8 of pregnancy were significantly higher than those in the groups given TPTCl alone. No significant differences in these parameters were found between the control group and the groups given TPTCl and progesterone. It can be concluded that the TPTCl‐induced suppression of uterine decidualization is mediated, at least partially, via the ovarian hormones, and that progesterone protects against the TPTCl‐induced implantation failure.
{"title":"Roles of progesterone on suppression of uterine decidualization and implantation failure induced by triphenyltin chloride in rats","authors":"M. Ema, E. Miyawaki","doi":"10.1111/j.1741-4520.2001.tb00821.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.2001.tb00821.x","url":null,"abstract":"ABSTRACT In our previous studies, an administration of triphenyltin chloride (TPTCl) at 4.7 or 6.3 mg/kg on days 0–3 of pregnancy caused implantation failure, and the same doses of TPTCl on days 0–3 of pseudopregnancy caused a suppression of uterine decidualization correlated with a reduction in serum progesterone levels in rats. This study was conducted to determine the roles of progesterone on the TPTCl‐induced suppression of uterine decidualization and implantation failure in rats. Although lower uterine weight was found in hormone‐maintained ovariectomized rats given TPTCl at 4.7 or 6.3 mg/kg on days 0–3 and induced decidual cell response on day 4, no statistical significance in the uterine weight was detected between the control group and the TPTCl‐treated groups. The pregnancy rate and number of implantations in the groups given TPTCl at 4.7 or 6.3 mg/kg on days 0–3 of pregnancy and progesterone on days 0–8 of pregnancy were significantly higher than those in the groups given TPTCl alone. No significant differences in these parameters were found between the control group and the groups given TPTCl and progesterone. It can be concluded that the TPTCl‐induced suppression of uterine decidualization is mediated, at least partially, via the ovarian hormones, and that progesterone protects against the TPTCl‐induced implantation failure.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"102 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2001-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87712356","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}
Pub Date : 2000-06-01DOI: 10.1111/j.1741-4520.2000.tb00918.x
Y. Fukushima
ABSTRACT In order to perform precise chromosome analysis, we have to have enough knowledge of cytogenetics, refined techniques and good communication between clinicians and cytogeneticists. This short note shows several examples of easily misdiagnosed chromosome abnormality and several suggestions for precise cytogenetic diagnosis.
{"title":"Pitfalls of chromosome analysis","authors":"Y. Fukushima","doi":"10.1111/j.1741-4520.2000.tb00918.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.2000.tb00918.x","url":null,"abstract":"ABSTRACT In order to perform precise chromosome analysis, we have to have enough knowledge of cytogenetics, refined techniques and good communication between clinicians and cytogeneticists. This short note shows several examples of easily misdiagnosed chromosome abnormality and several suggestions for precise cytogenetic diagnosis.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"17 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2000-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74841424","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}
Pub Date : 2000-06-01DOI: 10.1111/j.1741-4520.2000.tb00914.x
M. Inouye, Xuezhi Sun
ABSTRACT Embryos are more susceptible to ionizing radiation than adults. Heterotopic gray matter was found in the brain of victims prenatally exposed to the atomic bomb. We reproduced this malformation in mice. Many cells in the ventricular zone, except for radial glial fibers, were destroyed by radiation. Following the proliferation of surviving cells, postmitotic neurons migrated to the cortical plate. Some neurons in areas missing radial fibers could not migrate and remained as heterotopic gray matter. On the other hand, there is no evidence of human congenital abnormalities caused by nonionizing radiation. Teratogenicity of microwaves in experimental animals is regarded as their thermal effect. However, some studies have reported effects of radio frequency and extremely low‐frequency electromagnetic fields on cell proliferation and differentiation.
{"title":"Developmental abnormalities induced by ionizing and nonionizing radiation","authors":"M. Inouye, Xuezhi Sun","doi":"10.1111/j.1741-4520.2000.tb00914.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.2000.tb00914.x","url":null,"abstract":"ABSTRACT Embryos are more susceptible to ionizing radiation than adults. Heterotopic gray matter was found in the brain of victims prenatally exposed to the atomic bomb. We reproduced this malformation in mice. Many cells in the ventricular zone, except for radial glial fibers, were destroyed by radiation. Following the proliferation of surviving cells, postmitotic neurons migrated to the cortical plate. Some neurons in areas missing radial fibers could not migrate and remained as heterotopic gray matter. On the other hand, there is no evidence of human congenital abnormalities caused by nonionizing radiation. Teratogenicity of microwaves in experimental animals is regarded as their thermal effect. However, some studies have reported effects of radio frequency and extremely low‐frequency electromagnetic fields on cell proliferation and differentiation.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"45 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2000-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79344206","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}
Pub Date : 2000-06-01DOI: 10.1111/j.1741-4520.2000.tb00915.x
T. Sonoda, K. Kouno, K. Sawada, H. Koizumi, J. Takagi, S. Yamasaki
ABSTRACT Our impression that the incidence of congenital heart disease in patients with Down syndrome was increasing in our outpatient clinic was investigated. The change in the incidence of congenital heart disease was investigated during the period from January 1981 to December 1998 in 196 patients with Down syndrome diagnosed by chromosomal analysis. Of the 196 patients, 99 (50.5%) had congenital heart disease. The incidence increased during study period: 35.4% (1981–1983), 44.9% (1984–1986), 46.4% (1987–1989), 69.0% (1990–1992), 53.8% (1993–1995), and 81.3% (1996–1998). The number and the mean age of new outpatients were found to decrease. The incidence of Down syndrome patients whose disease was chromosomally proven by other institutions was increasing. The incidence of congenital heart disease in patients with Down syndrome is currently increasing in our outpatient clinic. However many factors might contribute to this phenomenon.
{"title":"Increasing incidence of congenital heart disease in patients with Down syndrome","authors":"T. Sonoda, K. Kouno, K. Sawada, H. Koizumi, J. Takagi, S. Yamasaki","doi":"10.1111/j.1741-4520.2000.tb00915.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.2000.tb00915.x","url":null,"abstract":"ABSTRACT Our impression that the incidence of congenital heart disease in patients with Down syndrome was increasing in our outpatient clinic was investigated. The change in the incidence of congenital heart disease was investigated during the period from January 1981 to December 1998 in 196 patients with Down syndrome diagnosed by chromosomal analysis. Of the 196 patients, 99 (50.5%) had congenital heart disease. The incidence increased during study period: 35.4% (1981–1983), 44.9% (1984–1986), 46.4% (1987–1989), 69.0% (1990–1992), 53.8% (1993–1995), and 81.3% (1996–1998). The number and the mean age of new outpatients were found to decrease. The incidence of Down syndrome patients whose disease was chromosomally proven by other institutions was increasing. The incidence of congenital heart disease in patients with Down syndrome is currently increasing in our outpatient clinic. However many factors might contribute to this phenomenon.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"176 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2000-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73922167","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}
Pub Date : 2000-06-01DOI: 10.1111/j.1741-4520.2000.tb00913.x
K. Sawada, H. Haga, Y. Fukui
ABSTRACT This review summarizes recent studies in the morphological and functional abnormalities of cerebella in three ataxic mutant mice, i.e. tottering mouse, leaner mouse, and rolling mouse Nagoya (RMN). These mutants carry mutations in the Ca2+ channel α1A subunit gene, and become useful models for human neurological diseases such as episodic ataxia type‐2, familial hemiplegic migraine, and spinocerebellar ataxia type‐6. All three mutants exhibited altered morphology of the Purkinje cells, ectopic synaptic contacts between granule cell axons (parallel fibers) and Purkinje cell dendritic spines and abnormal expression of tyrosine hydroxylase in Purkinje cells. In leaner mice, Purkinje cell loss was observed in alternating sagittal compartments of the cerebellar cortex corresponding to the Zebrin II‐negative zones. The mutated Ca2+ channel α1A subunit was highly expressed in granule and Purkinje cells, and the P‐type Ca2+ currents in Purkinje cells were selectively reduced in the mutant mice. Therefore, we concluded that altered Ca2+ currents through the mutated Ca2+ channel α1A subunit might be involved in the functional and morphological abnormalities in granule and Purkinje cells, and might result in expressions of behavioral phenotypes including ataxia. Increased levels of corticotropin‐releasing factor and cholecystokinin in some climbing and mossy fibers were observed in RMN. These neuropeptides modulated the excitability of granule and Purkinje cells, indicating the possible expression of ataxic symptoms.
{"title":"Ataxic mutant mice with defects in Ca2+ channel α1A subunit gene: morphological and functional abnormalities in cerebellar cortical neurons","authors":"K. Sawada, H. Haga, Y. Fukui","doi":"10.1111/j.1741-4520.2000.tb00913.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.2000.tb00913.x","url":null,"abstract":"ABSTRACT This review summarizes recent studies in the morphological and functional abnormalities of cerebella in three ataxic mutant mice, i.e. tottering mouse, leaner mouse, and rolling mouse Nagoya (RMN). These mutants carry mutations in the Ca2+ channel α1A subunit gene, and become useful models for human neurological diseases such as episodic ataxia type‐2, familial hemiplegic migraine, and spinocerebellar ataxia type‐6. All three mutants exhibited altered morphology of the Purkinje cells, ectopic synaptic contacts between granule cell axons (parallel fibers) and Purkinje cell dendritic spines and abnormal expression of tyrosine hydroxylase in Purkinje cells. In leaner mice, Purkinje cell loss was observed in alternating sagittal compartments of the cerebellar cortex corresponding to the Zebrin II‐negative zones. The mutated Ca2+ channel α1A subunit was highly expressed in granule and Purkinje cells, and the P‐type Ca2+ currents in Purkinje cells were selectively reduced in the mutant mice. Therefore, we concluded that altered Ca2+ currents through the mutated Ca2+ channel α1A subunit might be involved in the functional and morphological abnormalities in granule and Purkinje cells, and might result in expressions of behavioral phenotypes including ataxia. Increased levels of corticotropin‐releasing factor and cholecystokinin in some climbing and mossy fibers were observed in RMN. These neuropeptides modulated the excitability of granule and Purkinje cells, indicating the possible expression of ataxic symptoms.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"90 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2000-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82685910","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}
Pub Date : 2000-06-01DOI: 10.1111/j.1741-4520.2000.tb00917.x
H. Kawasaki, S. Baba, I. Kosugi, Y. Tsutsui, K. Miura, H. Omori, N. Tokunaga, Takao Kobayashi
ABSTRACT We present an autopsy case of cyclopia and alobar holoprosencephaly and Polydactyly with 13 trisomy. A 27 year‐old Japanese female at the 27th gestational week was diagnosed as hydramnios and the fetus showed hydrocephalus and intrauterine growth retardation. The fetus was suspected to be cyclopic and holoproscncephalic by ultrasonograph and MRI images. The mother delivered a stillborn male baby at the 30th week of gestation. At autopsy, the baby showed true cyclopia having one eyeball and two irides in a single ocular opening, and one proboscis. On histological analysis of the eye, there was marked dysplastic hyperplasia of the retina with rosettes, focal degeneration of the retina with calcification, and prominent proliferation of glial cells beneath the hyperplastic retina. Multiple glomerular structures in the cerebral cortex and aplasia of the corticospinal tract were observed. In the spinal cord, a few neurons with pyknosis were observed in the ventral horn. Although no mutation was detected in the Sonic hedgehog in the present case, we reviewed recent studies concerning the molecular mechanisms of cyclopia and holoprosencephaly.
{"title":"An autopsy case of cyclopia with 13 trisomy with special reference to histological abnormalities of the eyeball","authors":"H. Kawasaki, S. Baba, I. Kosugi, Y. Tsutsui, K. Miura, H. Omori, N. Tokunaga, Takao Kobayashi","doi":"10.1111/j.1741-4520.2000.tb00917.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.2000.tb00917.x","url":null,"abstract":"ABSTRACT We present an autopsy case of cyclopia and alobar holoprosencephaly and Polydactyly with 13 trisomy. A 27 year‐old Japanese female at the 27th gestational week was diagnosed as hydramnios and the fetus showed hydrocephalus and intrauterine growth retardation. The fetus was suspected to be cyclopic and holoproscncephalic by ultrasonograph and MRI images. The mother delivered a stillborn male baby at the 30th week of gestation. At autopsy, the baby showed true cyclopia having one eyeball and two irides in a single ocular opening, and one proboscis. On histological analysis of the eye, there was marked dysplastic hyperplasia of the retina with rosettes, focal degeneration of the retina with calcification, and prominent proliferation of glial cells beneath the hyperplastic retina. Multiple glomerular structures in the cerebral cortex and aplasia of the corticospinal tract were observed. In the spinal cord, a few neurons with pyknosis were observed in the ventral horn. Although no mutation was detected in the Sonic hedgehog in the present case, we reviewed recent studies concerning the molecular mechanisms of cyclopia and holoprosencephaly.","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"21 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2000-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72622196","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}
Pub Date : 2000-06-01DOI: 10.1111/j.1741-4520.2000.tb00916.x
S. Miyabara, M. Ando, K. Suzumori, M. Nishibatake, N. Saito, H. Sugihara, T. Ikenoue
ABSTRACT In order to clarify the incidence and types of cardiovascular malformations in Japanese trisomy 21 fetuses, seventeen cases were investigated at around 20 weeks of pregnancy. Cardiovascular malformations were observed in 8 of 17 cases (47.1%). The incidence of cardiovascular malformations was not greatly different from the estimated incidence (50%) in Japanese children with Down syndrome. The preferential elimination would not exist in trisomy 21 fetuses around 20 weeks relevance to cardiovascular malformations. Atrioventricular (AV) septal defect, tetralogy of Fallot and Ebstein's anomaly were observed in one case each. Bicuspid aortic valve and abnormal branching of the aortic arch were present in three and two cases, respectively. AV septal defect, which is perceived as a specific malformation of trisomy 21, was not recognized in high frequency in the present fetal study. A 13‐week‐old fetus showed multiple malformations; AV septal defect, tetralogy of Fallot and dysplastic bicuspid aortic valve. This case displayed an early morphology of AV septal defect which has rarely been reported in trisomy 21 fetuses. Possible pathogenesis of AV septal defect was discussed in relation to animal models of human trisomy 21. The present study indicated
{"title":"Incidence and types of congenital cardiovascular malformations in Japanese trisomy 21 fetuses around 20 weeks","authors":"S. Miyabara, M. Ando, K. Suzumori, M. Nishibatake, N. Saito, H. Sugihara, T. Ikenoue","doi":"10.1111/j.1741-4520.2000.tb00916.x","DOIUrl":"https://doi.org/10.1111/j.1741-4520.2000.tb00916.x","url":null,"abstract":"ABSTRACT In order to clarify the incidence and types of cardiovascular malformations in Japanese trisomy 21 fetuses, seventeen cases were investigated at around 20 weeks of pregnancy. Cardiovascular malformations were observed in 8 of 17 cases (47.1%). The incidence of cardiovascular malformations was not greatly different from the estimated incidence (50%) in Japanese children with Down syndrome. The preferential elimination would not exist in trisomy 21 fetuses around 20 weeks relevance to cardiovascular malformations. Atrioventricular (AV) septal defect, tetralogy of Fallot and Ebstein's anomaly were observed in one case each. Bicuspid aortic valve and abnormal branching of the aortic arch were present in three and two cases, respectively. AV septal defect, which is perceived as a specific malformation of trisomy 21, was not recognized in high frequency in the present fetal study. A 13‐week‐old fetus showed multiple malformations; AV septal defect, tetralogy of Fallot and dysplastic bicuspid aortic valve. This case displayed an early morphology of AV septal defect which has rarely been reported in trisomy 21 fetuses. Possible pathogenesis of AV septal defect was discussed in relation to animal models of human trisomy 21. The present study indicated","PeriodicalId":93953,"journal":{"name":"Congenital anomalies","volume":"42 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2000-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76384381","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}
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