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On the basis of screening of 15939 newborns at the maternity homes of Kiev after the accident at the Chernobyl atomic station it was found that the number of children with congenital malformation of the locomotor apparatus in 1991-1992 increased by 28.7% as compared with the data of the first postaccident years (1986-1987). Congenital pathology of the hip joint (dysplasia in average 23.5 per 1000 births, hip dislocation 3.6:1000) and foot deformity (7.9:1000) had the highest incidence with a tendency to increase at the latest years.
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The cases of 3 patients with partial anomalous pulmonary venous return with intact atrial septum are reported. The 2 adult patients had evidence of severe pulmonary artery hypertension with markedly increased pulmonary vascular resistance indicating advanced pulmonary vascular obstructive disease. This confirms earlier limited observations and emphasizes the potential for this congenital lesion to develop late, serious complications. In view of this potential, surgical repair of the anomaly should be considered whenever it is found. Descriptions of a successful operative approach are included.
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What should you do if you observe a defective calf in a herd? Our suggestion is to seek qualified help to examine and diagnose the condition. Parentage should be verified by blood typing. But, most important, you can keep cattle genetically clean by having your clients report all defects in calves to their breed association and artificial insemination centers.
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The prenatal diagnosis of neural tube defects is based on elevated alpha-fetoprotein (AFP) concentrations in the amniotic fluid as well as in the maternal serum. Amniocentesis has to be performed in those women who already gave birth to an affected child and have the high risk to bear another. On the other hand more than 90% of the newborns with anencephaly and spina bifida are born by mothers without any increased risk in anamnesis. Therefore maternal serum screening is indicated in all pregnant women to rule out a neutral tube defect. The pittfalls of a general serum screening are discussed an a survey of the datas from different international centers is presented.
Limb deficiency may occur in offspring prenatally exposed to alcohol. In a study on limb deficiency occurring in 1,213,913 consecutive liveborn infants in British Columbia, born in the years 1952-1984, a total of 659 cases with limb deficiency was identified. Cases with documented maternal alcohol abuse in pregnancy in this group were analyzed separately. We found eight cases with severe prenatal alcohol exposure (6 F, 2 M). In six of the eight cases a terminal transverse defect of the forearm or hand was present. In the remaining two cases ulnar defects were identified. These observations give further support to the hypothesis that intrauterine alcohol exposure may cause limb defects. This has also been demonstrated in experimental animals. Terminal transverse defects made up a larger proportion of cases with known alcohol exposure (6/8) than of cases where alcohol exposure was not noted (217/651) (chi 2 = 6.13; P < 0.025) in this study. The defects primarily involved the right hand and forearm. This suggests a vascular origin of the limb defects after intrauterine alcohol exposure.
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In this clinical study, a diaphragmatic peritoneo-pericardial hernia in an eight month-old Persian cat is reported. The diagnostic procedure is described, and the clinical symptoms and diagnostic possibilities are discussed.
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A 20-year study of 1,124 spontaneously aborted embryos and fetuses found 214 (19.0%) to have a localized defect or identifiable syndrome. No clear trend of change over time was noted. The rate is compared with other studies of spontaneously aborted specimens and is approximately ten times higher than in newborns. Forty (3.6%) had neural tube defects and 30 (2.7%) had a clinically recognized chromosomal phenotype. Fifteen had Turner's phenotype, four trisomy 18, and 11 triploidy. Amniotic bands occurred in eight. Two had bilateral renal agenesis. Thirty had some form of facial cleft.
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--omphalocele, gastroschisis, abdominal wall defects, renal agenesis and hypoplasie, cystic kidney disease, diaphragm hernia. TYPE OF STUDY: Retrospective analysis from registry of birth defects in the Institute of Health Information and Statistie of the 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 22,711 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 66% in abdominal wall defects, 55% in omphalocele and 77% in gastroschisis. In cases where the diagnosis was established after birth, 93.55% of children survived the first year of life. In cases of birth cystic kidney 25% were diagnosed prenatally and ended for renal agenesis and hypoplasie of the kidneys and 27% due to cystic kidney. In cases of diaphragmatic hernia, 31% of cases were diagnosed an ended prematurely after positive prenatal diagnosis, and about one third of affected children died during the first year of life. 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 morbility.