Congenital defects. 2.
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Congenital Abnormalities↗
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[Hereditary and congenital defects in children in the regions of Indija-Stara Pazova and Pancevo-Kovin].
An analysis of frequency and range of hereditary and congenital defects was performed in all infants born in the period from January 1 to December 31, 1986 in the Ward for Neonates at the Department of Gynecology and Obstetrics in Panĉevo and in the out-patient maternity home in Indija and Kovin. In Panĉevo 2.559 (1.286 m. and 1.273 f.) newborn infants were born, i.e. there were 2.314 (1.178 m. and 1.136 f.) mature children and 245 (108 m. and 187 f.) premature children. In Indija 367 (180 m. and 187 f.) newborn infants were born, i.e. there were 355 (174 m. and 181 f.) mature children and 12 (6 m. and 6 f.) premature children. In Kovin 146 (65 m. and 81 f.) newborn infants were born, i.e. 150 (82 m. and 68 f.) mature and 10 (1 m. and 9 f.) premature children. A total 3.072 (1.531 m. and 1.541 f.) newborn infants in all three places were born. In all three places there was a total of 2.805 (1.417 m. and 1.387 f.) mature and 267 (115 m. and 152 f.) premature children. In Panĉevo 68 children were born with defects (40 m. and 28 f.), i.e. 2.66% (3.11% m. and 2.20% f.). In Indija only one defect was noted in one female child (0.53% related to female newborns).(ABSTRACT TRUNCATED AT 250 WORDS)
Congenital Abnormalities↗
Clinical aspects of congenital skin defects. I. Congenital skin defects on the head of the newborn.
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Abnormalities, Multiple↗
Multiple congenital defects: report of a case.
An unusual case history is presented in which a 4-year-old Oriental boy, born with multiple congenital defects primarily affecting anatomic structures in the midline, was treated by an oral surgeon, restorative dentist, and others. The defects included cleft palate, two complete and separate tongues, missing and decayed teeth, and an aortic abnormality. Treatment procedures included restoring the teeth, uniting the two tongues, lip repair, and fabrication of an obturator to close the palatal defect.
Abnormalities, Multiple↗
Homocysteine, folate, and congenital heart defects.
Congenital heart disease will be the next frontier for prevention by periconceptional management of homocysteine and its metabolites by folate supplementation. Evidence for the connection between maternal and fetal folate metabolism and congenital malformations of the cardiovascular system is reviewed including possible applications to the large population of patients at risk for a child with congenital heart disease.
Animals↗
A patient with congenital defect of nasal cartilaginous septal and vomeral bone reconstructed with costal cartilaginous graft.
We present a 64-year-old woman who had a congenital defect of the nasal septal cartilage and vomeral bone. She noticed her nasal tip was collapsed approximately 2 months before consultation. Computed tomography showed the absence of cartilaginous septum and vomeral bone, and radiograph showed a depression in the anterior nasal floor and hypoplasia of anterior nasal spine. She had no history of maxillofacial trauma, disease, or surgery in the midface. Fiberendoscopic examination of nasal cavity showed normal mucosa without signs of chronic inflammatory diseases such as Wegener's granulomatosis. Her intelligence was normal, and no anomaly was observed in the cranial region. Blood examination showed negative including serologic tests for syphilis. No other systemic findings were found, and none of her relatives were similarly afflicted. From these findings, we concluded that the patient did not have Binder's syndrome (or she has, at least, a new variant of Binder's syndrome). Rhinoplasty with cantilever costal cartilaginous graft was performed. The "hook-shaped part" was carved on the dorsal graft, which served to reduce the collapsed lateral cartilage. Eight months postoperatively, the flattened nose was well corrected with acceptable projection.
Aged↗
[Etiologic distribution of children with congenital defects].
INTRODUCTION: Although it has been generally admitted that we know the cause of congenital malformations in about 40% of the cases, these data are based on very few studies. PATIENTS AND METHODS: Here we present the distribution of 22,784 malformed infants in our country by type of cause of their defects. RESULTS: Our results show a great impact of chromosomal alterations in causing congenital anomalies. On the other hand, performing the chromosomal study will enable the diagnosis of genetic entities, as well as environmental ones that are clinically similar to the clinical patterns produced by chromosomal abnormalities. CONCLUSIONS: We can recognize the cause of congenital defects in a proportion higher than the 40% which is generally accepted. Nowadays, there is no reason that justifies not performing a chromosomal study with high resolution band techniques in infants with congenital defects.
Congenital Abnormalities↗
Noninvasive diagnosis of persistent fetal circulation versus congenital cardiovascular defects.
Congenital cardiovascular anomalies associated with right-left atrial or ductal shunts must be excluded before a diagnosis of persistent fetal circulation (PFC) can be made. Despite the advent of 2-dimensional echocardiography (2-D echo), this differentiation can be difficult and may require cardiac catheterization with selective angiography. Fifteen consecutive cases were analyzed in which difficulty was encountered with this differential diagnosis, and experience with the use of cardiac auscultation, the 12-lead electrocardiogram (ECG), arterial blood gas determinations and 2-D echo, both alone and with injection of venous contrast material, is reviewed. Electrocardiographic abnormalities of ventricular axis, hypertrophy or dominance (p = 0.002) and suspicion of cardiovascular disease on 2-D echo (p = 0.011) were the most useful findings in differentiating patients with PFC from those with congenital cardiovascular abnormalities. The ECG was the most sensitive test (100% sensitivity, 90% specificity), while 2-D echo was the most specific (100% specificity, 75% sensitivity). Evidence of right-left shunting at atrial or ductal levels or both did not differentiate between the groups; both groups had evidence of such shunts. A decision tree was developed to facilitate this differential diagnosis, which uses the ECG and 2-D echo. If the ECG reveals no abnormalities of ventricular axis, dominance or hypertrophy, the 2-D echo shows no structural abnormalities, and total anomalous pulmonary venous return and coarctation/interruption of the aorta are specifically excluded, a congenital cardiovascular anomaly is effectively eliminated. We suggest that this approach can optimize the management of the cyanotic newborn with suspected PFC by eliminating the risks of cardiac catheterization and angiography without missing the diagnosis of a major structural cardiovascular anomaly.
Diagnosis, Differential↗
Congenital defects of the central nervous system and occupational factors during pregnancy. A case-referent study.
The possible impact of occupational factors on the furtherance of congenital defects has been under study at our department for the past four years, and it has assumed a special interest because of the importance to understand the etiology of these disorders and a good possibility for prevention by elimination of the causative factor from the work environment. In connection with a register based case-referent study utilizing supplementary information, acquired by a single interviewer, we analyzed various occupational factors related to pregnancy. We found that organic solvent exposure and exposure to various dusts during the pregnant period were more common among the case mothers than among their matched referents. These findings may offer further rough guidance in the quest for the identification of possibly embryotoxic agents that may occur in occupational life.
Abnormalities, Drug-Induced↗
Chemical exposures at work in early pregnancy and congenital defect: a case-referent study.
Three hundred and one women who in their most recent pregnancy had given birth to an infant with an important congenital defect were individually matched with 301 women whose children were normal. Both cases and referents were drawn from a comprehensive survey of pregnancies in Montreal, 1982-4, and limited to women employed 30 or more hours a week until at least the 13th week of gestation. Occupational exposure to chemicals was investigated and the results classified without knowledge of case-referent status. In matched pair analysis the overall frequency of chemical exposure was higher in cases than referents (63:47), due to excesses in the cardiac and miscellaneous defect groups (ratios of 10:5 and 15:7 respectively). In analyses by nine chemical categories only exposure to aromatic solvents showed a clear excess (18:8; p approximately equal to 0.04), most evident in the urinary tract group (9:0). A comparison of cases and referents exposed to aromatic solvents showed that most of the excess was associated with toluene; the defects were varied but predominantly renal-urinary or gastrointestinal.
Abnormalities, Drug-Induced↗
Bile secretion of trace elements in rats with a congenital defect in hepatobiliary transport of glutathione.
Bile secretion of trace elements, analyzed by proton-induced x-ray emission, was studied in rats with a congenital defect in hepatobiliary transport of organic anions [Groningen Yellow (GY) rats], in which the process of bile secretion resembles that of the neonatal period. Bile flow (-41%) and biliary glutathione secretion (-99%) were drastically impaired in GY rats compared with controls. Plasma concentrations of all detectable trace elements (Fe, Cu, Zn, Mo, Br, and Se), as well as that of simultaneously determined Ca, were similar in GY and age-matched control Wistar rats. Bile concentrations of Fe, Mo, Br, and Ca were also similar in both groups, resulting in a approximately 40% reduction of their secretion rates in GY rats. The concentrations of Zn (-62%) and Mn (-64%) were significantly lower in GY rats in contrast to that of Cu, which was 50% higher. Se could not be detected in bile of either group. Recovery in bile (% dose/3 h) after i.v. injection of MnCl2, CuSO4, or SeO2 (1 mg metal/kg) was lower in GY rats than in controls: Mn, 26 and 35%; Cu, 2.6 and 5%; and Se, 1.5 and 5%, respectively. Injection of ZnSO4 did not lead to increased Zn secretion in GY rats, and only 1.1% of the dose was recovered in controls. Thus, the hepatic handling of different endogenous and exogenously administered trace metals is affected to a variable extent in the GY rat. For a number of metals (e.g. Fe, Mo), this may be related to the reduced bile flow; for others (e.g. Zn, Mn, Cu), other regulatory factors appear to be responsible.
Animals↗
Congenital pericardial defect associated with atrial and ventricular septal defects.
Congenital pericardial defects are rare anomalies but in recent years improved diagnostic techniques have often led to a pre-operative diagnosis. The present communication describes a case of a partial pericardial defect with herniation of the lung into the pericardium associated with a lung cyst which is extremely rare. The sternum showed some deficiency in its lower portion. Atrial and ventricular septal defects with a small pericardio-peritoneal foramen were also present.
Cardiomegaly↗
The relationship between congenital defects and the use of exogenous progestional "contraceptive" hormones during pregnancy: a 20-year review.
This review of 20 years of medical literature on the occurrence of congenital defects among offspring of women who ingested "progestational" or contraceptive hormones during pregnancy emphasizes the need for additional studies with carefully selected control groups. Other problems encountered in interpreting the existing literature, including the use of imprecise definitions, confusing nomenclature and inadequate clinical information, are also discussed.
Abnormalities, Drug-Induced↗
Accepting or declining the offer of prenatal screening for congenital defects: test uptake and women's reasons.
OBJECTIVES: Prenatal screening for Down syndrome has become standard practice in many western countries. In the Netherlands, however, prenatal screening tests for congenital defects are not offered routinely. The present study aims to assess test uptake in a large, unselected population of pregnant women, and to give more insight into the decision for or against prenatal screening through nuchal translucency measurement or maternal serum screening. PATIENTS AND METHODS: The study is part of a randomized controlled trial with two groups, each being offered a different prenatal screening test, and a control group. Pregnant women received postal questionnaires at three stages of their pregnancy. RESULTS: Of the women being offered the nuchal translucency measurement or the second trimester maternal serum test, 53 and 38% respectively accepted the test offer. The main reasons for accepting were 'gaining knowledge about the health of the foetus/curiosity' (50%), 'favourable characteristics of the screening test' (18%), and 'increased risk of having a child with DS' (15%). The main reasons for declining were 'unfavourable characteristics of the screening test' (42%), 'not applicable/not necessary' (35%), 'anxiety/uncertainty' (36%), 'adverse characteristics of the invasive tests' (32%), and 'being against abortion' (15%). DISCUSSION: The uptake of prenatal screening was relatively low, and different distributions of reasons were reported, compared to other studies. These differences may be due to the specific Dutch situation in which prenatal screening is not part of standard prenatal care. The question arises as to whether informed decision-making would be reduced if prenatal screening became routinised.
Adult↗
Antithrombin III in full-term and pre-term newborn infants: three cases of neonatal diagnosis of AT III congenital defect.
Antithrombin III (AT III) plasma levels were investigated in 18 full term neonates and 14 healthy preterm neonates. A control group of 20 healthy adults was also studied. AT III was measured as antigen concentration (Ag) and antithrombin or anti-factor Xa heparin cofactor (H.C.) activities. Crossed immunoelectrophoresis on heparin-agarose (H-CIE) was carried out on plasma samples; moreover the distribution of isoantithrombins was investigated on whole plasma by a technique of crossed immunoelectrofocusing (CIEF). AT III plasma levels in full term infants were significantly lower as compared to the adult values. The preterm newborns group showed a further significant decrease in AT III levels as compared to the full term neonates. In all infants AT III H-CIE runs displayed a single fast moving anodal peak, so that a normal binding to heparin was demonstrated. The CIEF AT III plasma pattern of the adults as well as of all neonates displayed three major peaks at pH range 5.2-4.9, a small amount of AT III at pH 4.9-4.8 and a minor peak at pH 4.8-4.6, so that it was concluded that the isoantithrombins plasma distribution in neonatal age is identical to that of the adult subjects. Four neonates whose mothers were affected by AT III congenital defect were also investigated: diagnosis of congenital deficiency was established in three cases.
Adult↗
Cigarette, alcohol, and coffee consumption and congenital defects.
We analyzed data from a survey of occupational and other factors and pregnancy outcome to assess the effects of cigarette, alcohol, and coffee consumption. There was no evidence of an association between any congenital defect and smoking. Results for alcohol and coffee consumption were largely negative, but there was a weak association with musculoskeletal defects in babies born to women who drank one or more alcoholic drinks a day.
Alcohol Drinking↗
Perinatal lamb mortality in Western Australia. 7. Congenital defects.
Four hundred and one malformed lambs were examined during a 3-year investigation into the causes of perinatal lamb mortality. Frequence of involvement of the various body systems was: musculo-skeletal 55.4%, digestive 12.7%, cardiovascular 9.7%, uro-genital 7.1%, nervous 6.0%, special senses 3.5%, integument 3.2%, and endocrine 1.5%. A third of the defects (32.9%) involved more than one body system. There was a sex difference of 3 males: 2 females. The common defects in the lambs autopsied in order of frequence were: agnathia, atresia ani, cardiac defects, arthrogryposis, micrognathia, scrotal bifurcation, embryonic duplications, hernias, meningocele, and perosomus elumbis. Agnathia, atresia ani and persistent umbilical haemorrhage appeared to be hereditary. There was no relationship between congenital defects and the time of lambing and phytoestrogens.
Abnormalities, Multiple↗
Single umbilical artery and other congenital defects in a calf.
Single umbilical artery, a common anomaly of humans is often accompanied by caudal and other vascular defects. A literature search failed to reveal any cases reported in animals. Dissection of a neonatal Holstein bull calf disclosed the following congenital defects: single umbilical artery with anomalous origin, abnormal abdominal aorta, azygos continuation of the caudal vena cava, rectal atresia, rectourethral fistula, abnormally shaped urinary bladder, unilateral testicular agenesis, undescended testis, unilateral renal agenesis, bifid ureter, and hydroureter.
Abnormalities, Multiple↗