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At least 19 recordsLinked to original sources
PubMed1990

Monozygotic twinning as a congenital defect and congenital defects in monozygotic twins.

The process of monozygotic twinning in animals and humans is presented. In addition, congenital defects in monozygotic twins versus dizygotic twins and singletons is discussed. Overall, the rates of congenital anomalies are higher among whites as compared to blacks, males as compared to females, and multiples as compared to singletons. The highest rates are among infants born to women in the oldest age category and infants with birth weights below 2,000 g. Among white infants, live births in plural deliveries had 22% more congenital anomalies as compared to single live births. Among black infants, the rate was only 4% higher among multiples. It has been suggested that the more frequent occurrence of low birth weight and preterm delivery among multiple births and by race are critical to the higher incidence of congenital anomalies in twins. Newer theories relating the twinning process to congenital anomalies in twins are also presented.

Adolescent↗
PubMed2004

[Incidence and survival in children with selected types of congenital defects in the Czech Republic from 1994 to 2001. (Part 1)].

OBJECTIVE: Analysis of prenatal and postnatal incidence of selected types of birth defects in the Czech Republic in the period of 1994-2001. In the postnatally diagnosed cases the survival in the course of the first year of life was analyzed. Selected birth defects--anencephaly, spina bifida, encephalocele, neural tube defects, congenital hydrocephalus, Down syndrome, were investigated. TYPE OF STUDY: Retrospective analysis from registry of birth defects in the UZIS Czech Republic in the period of 1994-2001. METHOD: The authors analyzed frequency of prenatally and postnatally diagnosed cases of 6 selected types of birth defects in the period of 1994-2001 in the Czech Republic. In cases where the diagnosis was established after birth, analysis of survival and death rate during the first year of life was performed for selected birth defects. RESULTS: In the period of 1994-2001, 745,410 children were born in the Czech Republic. There were 3,572 children with one or more birth defects diagnosed in this cohort during the first year of life. The mean incidence of all cases in this period of observation was 304.52 per 10,000 live born children. The percentage of prenatally diagnosed cases, ended for this diagnosis in the above mentioned period of observation, was on the average 72.5% in neural tube and the highest in anencephaly--more than 96%. In cases of congenital hydrocephalus it was higher than 45% and in Down syndrome it represented 56.5%. The survival in children with neural tube defects was 82.5% on the average, being obviously zero in anencephaly. The children with congenital hydrocephalus survive in more than 75% and those with Down syndrome survive in almost 95%. CONCLUSION: Incidence of these types of birth defects in newborns in the Czech Republic is presently lower than in previous years particularly due to successful prenatal diagnostics. Cases, where the diagnosis is established after delivery, represent an important part of perinatal, neonatal and post-neonatal mortality and morbidity.

Czech Republic↗
PubMed1978

A variant form of median defect syndrome. Syndrome of combined congenital defects involving the supraumbilical abdominal wall, sternum, diaphragm, pericardium, and heart.

An autopsy case with the syndrome of combined congenital defects involving the supraumbilical abdominal wall, sternum, diaphragm, pericardium, and heart is reported. In this case, abnormal arterial plexus including anastomosis of the left coronary artery and the left internal mammary artery is recognized at the hernial pericardial wall, in addition to the already reported anomaly complex, i.e. diastasis recti abdominis with pericardial hernia, ventral defect of the diaphragm, partial defect of the sternum, and tetralogy of Fallot. It is suggested that this newly revealed vascular anomaly also comes within a specific syndrome of combined congenital defects.

Abdominal Muscles↗
PubMed2003

[Formation of congenital defects during ocular development. I. Embryogenesis of the eye and developmental birth defects].

Formation of developmental congenital defects of organ of vision finds its direct basis in the course of eye embryogenesis. Author of this work presents on the base of the literature, the crucial stages of embryonal development of eyeball and its individual structures. At every stage of development, the critical moments are shown, when the disturbance of the developmental process may lead to the origination of different groups of congenital eye defects. The knowledge of the potential period of particular congenital eye defects formation, facilitates the identification of eventual teratogenic factors, that have acted during pregnancy. It enables, to state the activity of gradually discovered genes, that regulate the course of embryonal development of the eye.

Eye↗
PubMed1999

[A risk analysis of congenital defects due to drug intake during pregnancy. Spanish Collaborative Study of Congenital Malformations].

BACKGROUND: Illicit drug abuse is a major area of interest, for clinicians, as well as for public health and social authorities. But one of the major concerns is the illicit drug abuse during the periconceptional period and throughout pregnancy, because of its potential effect on the embryo and fetus. In this study we analyze the possible risk of illicit drug abuse during pregnancy for different selected congenital defects. MATERIALS AND METHODS: We analyzed the annual evolution of the proportion of mothers who are addicted to illicit drugs, as well as some of their characteristics. We also performed a case-control study using different models of multiple logistic regression analyses, controlling possible confounding factors. RESULTS: We observed that the proportion of mothers who are addicted to illicit drugs shows an increasing liner trend over time. On the other hand, these mothers are younger that those who are not consumers of illicit drugs, and have an overall risk for congenital defects of 1.84 (p = 0.007). We also studied the different selected types of congenital defects, controlling the potential effect of the following variables: maternal age, maternal cultural level, maternal alcohol, maternal smoking, and vitamins/minerals during pregnancy. In these analyses we obtained statistically significant increased risks for: neural tube defects, choanal atresia, esophageal atresia, gastroschisis, anal atresia, and postaxial polydactyly. CONCLUSIONS: The women who are addicted to illicit drugs during pregnancy, have an increased risk for infants with several congenital defects. The way to prevent these effects should be based on a good information about this aspect to the general population, as well as on a careful medical control of the nutrition of these mothers and their health and social conditions during gestation, and the treatment of their addiction before and during pregnancy.

Abnormalities, Drug-Induced↗
PubMed1999

CT appearance of congenital defect resembling the Hangman's fracture.

PURPOSE: Congenital defects of C2 are rare and can be confused with Hangman's fractures. CT has been advocated as aiding in differentiation between an acute fracture and congenital defects. METHODS: We present a case of a 2-year-old recent accident victim, who was erroneously diagnosed by plain film and CT as having a Hangman's fracture. RESULTS: The CT demonstrated an atypical appearance of a congenital defect. CONCLUSION: This case shows that the radiographic differentiation between a Hangman's fracture and a congenital defect is more difficult than previously described.

Cervical Vertebrae↗
PubMed2003

[Analysis of congenital defects contributing to perinatal mortality in the Czech Republic].

OBJECTIVE: Analysis of the proportion of selected types of congenital defects in stillbirth, frequent neonatal and perinatal death rate in the Czech Republic in the years 1994-2002. DESIGN: A retrospective demographic-epidemiological analysis. SETTING: Institute for the Care of Mother and Child, Prague. MATERIALS AND METHODS: The study analyzed individual anonymous data from the Institute of Medical Information and Statistics of the Czech Republic in the period of 1994-2002 (preliminary data only for 2002) from the National Registry of Congental Defects. Fourteen types of defects were selected from the data set. The proportion of children with a certain selected congenital defect which died during the perinatal period were calculated in comparison with the total number of subjects diagnosed for this congential defect in the Czech Republic over the period of observation. RESULTS: A total of 4,436 children died during the perinatal period in the Czech Republic over the period of 1994-2002, while 879 of them suffered from one or more congenital defects. The congenital defects represent more than 10% of stillbirth in this period, 32.5% of deceased individuals in early neonatal death rate and almost 20% in perinatal death rate. In 25% of these cases the prenatal diagnosis was positive, whereas prenatal diagnosis was negative or not indicated (a negative screening) in 48% of cases, and in 27% the data were not filled out. More than 45% of children deceased with a congenital defect in the perinatal period had two or more congenital defects. CONCLUSIONS: Analysis of these results from the registry of congenital defects in the Czech Republic contributed to the information on prenatal deaths in the period of 1994-2002. The proportion of congenital defects in perinatal death rate makes up almost 20%, but it also significantly participates in late newborn and post-newborn mortality and morbidity.

Congenital Abnormalities↗
PubMed1998

[Analysis of the risk of congenital defects in different ethnic groups in Spain].

OBJECTIVE: The frequency of congenital defects is not the same in different populations and ethnic groups. Genetic factors, as well as differences in socio-cultural aspects (such as the frequency of consanguineous couples) between the groups could be responsible for some differences in the prevalence of congenital anomalies. However, some groups are made up of populations which live on the fringe of society in which several circumstances and related factors could increase the risk for congenital defects. PATIENTS AND METHODS: A total of 24,696 malformed infants were studied together with a similar group of controls, separated into the following ethnic groups: Gypsies, black, orientals, Arabic people and whites. Using different models of logistic regression analysis, controlling several factors related to the social-cultural level and with genetic aspects (such as consanguinity), we estimated the risk for 20 different congenital defects in the ethnic groups compared to the white population. RESULTS: The analysis showed that some ethnic groups have an increased risk for some congenital defects and that this increased risk is due to their high level of consanguinity. Other defects are due to different factors related with the low socio-cultural level. However, in black and Arabic people there is a high risk for some congenital defects that is not attributable to those genetic or socio-cultural factors studied. CONCLUSIONS: The results of the present study permit the estimation of the impact of congenital defects in these groups that have low socio-cultural level, as well as the need for health care. This is of great usefulness in establishing the necessary actions to provide proper assistance to prevent congenital defects in these populations.

Congenital Abnormalities↗
PubMed2001

Theory of the age dependence of mortality from congenital defects.

A theory is presented, based on the evidence that the congenital defect of an individual is at one of many different levels. It is supposed that the individual mortality risk from congenital defect is lognormally or normally distributed in the population. The relationship between childhood mortality from seven congenital defects and age is described. It uses data from the US during the period 1979-1991. Mortality from five congenital defects is inversely proportional to age. Mortality from two congenital defects is inversely proportional to the second power of age. The presented theory explains these two observed types of mortality decline with age. Childhood mortality from some infectious diseases is also inversely proportional to age during childhood in different populations. It follows from this theory that the death from these infectious diseases up the age of 10 years may be caused by a hidden congenital frailty.

Aging↗
PubMed2003

[Incidence of congenital defects in the children of mothers who used medications in the first trimester of pregnancy in the Czech Republic 1996-2001].

OBJECTIVE: Analysis of the results from registration of congenital defects in children of mothers taking therapeutic drugs in the first trimester of pregnancy and comparison with a control group in the Czech Republic in the period of 1996-2001. DESIGN: A retrospective analysis of data from the registry of congenital defects in the Czech Republic. SETTING: Institute for the Care of Mother and Child, Prague. METHODS: Analysis of incidences of selected types of congenital defects detected in newborns of mothers taking therapeutic drugs during the first three months of pregnancy. The paper employed data from the all-state registration of congenital defects held in the Institute of Medical Information and Statistics of the Czech Republic in the period of 1996-2001. Data from healthy children born to mothers who took therapeutic drugs during the first trimester of pregnancy were used as a control set. RESULTS: In the period we observed, a total of 17,674 cases of children with diagnosed congenital defect were detected in the registration of congenital defects in the Czech Republic. In this number there were 784 cases of children whose mothers used therapeutic drugs during the first trimester of pregnancy. The control group included 1,034 women who gave birth to healthy children without congenital defects, although they took therapeutic drugs during the first trimester of pregnancy. Statistically significantly higher risk was found in 13 groups of diagnoses: anencephaly, inborn hydrocephalus, spina bifida, inborn defects of eyelids, lacrimal system and orbita, anoftalmus, microphthalmus and macrophthalmus, inborn defects of ear, congenital defects of the heart septum, congenital defects of great veins, cleft palate with cleft lip, congenital defect of gall bladder, biliary pathways and liver, congenital deformities of the hip, reduction deformities of upper extremity, congenital defects of muscular and skeletal system. Significantly higher risks were found for five groups of therapeutic drugs: anticoagulants, antihypertensive drugs, peripheral vasodilatants, urological drugs and antiepileptic drugs. CONCLUSION: It is obviously impossible to draw significant conclusions with clinical consequences on the basis of these results. Nevertheless, our results supplemented international databases of untoward effects of drugs and the conclusions may become a part of data set necessary for analysis of possible teratogenic effects of drugs used in the critical developmental period during the first trimester. The pregnant women should avoid, during the first trimester, all drugs except those, which are carefully medically indicated and accepted as adequately safe. The administration of other drugs should be evaluated by a clinical geneticist, who should take into account genetic and teratogenic risk in individual cases.

Abnormalities, Drug-Induced↗