[Seasonal fluctuations and congenital malformations in newborn infants].
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Cardiovascular Abnormalities↗
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[Rare congenital defect of the gastrointestinal system in adult].
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Congenital Abnormalities↗
Detection of fetal structural abnormalities at the 11-14 week ultrasound scan.
The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11-14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans the patients were examined in the second or third trimester of pregnancy. An isolated increased nuchal translucency was not considered an abnormality. However, these patients had an early echocardiography assessment. Fetal structural abnormalities were classified as major or minor and of early or late onset. A total of 130 (4.6%) defects were identified and 29 (22.3%) of these were diagnosed at the 11-14 week scan, including nine cardiac defects associated with increased nuchal translucency. The antenatal ultrasound detection rate was 71.5%, and 31.2% were detected in the first-trimester assessment. 78.8% of the major defects were diagnosed by the prenatal scan and 37.8% by the 11-14 week scan. Fetal structural abnormalities at the 11-14 week scan were detected in approximately 22.3% of the cases, therefore, a second-trimester anomaly scan is important in routine antenatal care to increase the prenatal detection of fetal defects.
Adult↗
Congenital malformations: a review of 672 autopsies in Ibadan, Nigeria.
The postmortem findings in 672 Nigerian children with lethal congenital malformations are reviewed. Eighty-six percent of the patients were less than 1 year of age and the male-to-female sex ratio was 1.3:1. The alimentary tract was the most common anatomic site involved (30%), intestinal and biliary atresia being the two lesions most frequently identified in this location. Twenty-six percent of the children had cardiovascular malformations, of which ventricular septal defect, patent ductus arteriosus, and tetralogy of Fallot were most important. There was an accentuated male predominance among cases with urogenital malformations due to the high frequency of posterior urethral valve. Hydrocephalus, spina bifida, and anencephaly were the most common lesions observed in the craniospinal axis. One-fifth of the children had complex malformations of multiple organ systems, 20% of which were associated with chromosomal anomalies, rubella, and other malformation syndromes.
Abnormalities, Multiple↗
Cumulative detection rates of congenital malformations in a ten-year follow-up study.
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Central Nervous System↗
Congenital malformations in 100,000 consecutive births in Emilia Romagna region, northern Italy: comparison with the EUROCAT data.
A population based Congenital Malformations Registry has been established in the Emilia Romagna region of northern Italy. From the 1st of January 1978 to the end of 1984, 103,484 births were monitored, and 1914 babies with one or more congenital abnormalities were registered producing a rate of 1.85 per cent. The total number of malformations registered was 2,412 (2.3%). The rates of selected groups of malformations (isolated and in association with other defects) are presented and compared with rates derived from the EUROCAT study.
Abnormalities, Multiple↗
Congenital heart disease and extracardiac anomalies: associations and indications for fetal echocardiography.
Fetal echocardiography is a well-established technique for the prenatal identification of congenital heart disease. One of the indications for its use is the presence of extracardiac anomalies, as such coexistent defects may have important implications for obstetric and neonatal management. We have reviewed the obstetric and pediatric literature to examine reported associations. If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued. Furthermore, echocardiography may be of help in differential diagnosis of some anomalies (for instance, skeletal dysplasias). Maternal diabetes and phenylketonuria, as well as exposure to phenytoin, trimethadione, or isotretinoin, may result in multiple systemic defects, including congenital heart disease.
Abdominal Muscles↗
[Malformative pathology and infant mortality].
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Bone and Bones↗
Congenital anomalies in black South African liveborn neonates at an urban academic hospital.
STUDY OBJECTIVE: The aim was to study the spectrum of clinical problems and outcomes in infants born at an urban academic hospital. In consequence, as part of the overall study, the incidence of congenital anomalies and the outcomes of affected infants were recorded. DESIGN: This was a prospective, hospital-based study, undertaken on liveborn infants born over a 3-year period, 1 May 1986 to 30 April 1989. SETTING: Kalafong Hospital, Pretoria. MAIN RESULTS: A total of 17,351 liveborn infants was examined and the total congenital anomalies incidence was 11.87 per 1,000 livebirths. The central nervous system was the system most frequently involved (2.30 per 1,000 livebirths), followed by the musculoskeletal system (2.13 per 1,000 livebirths). The commonest individual congenital anomaly was Down syndrome (1.33 per 1,000 livebirths), followed by neural tube defects (0.99 per 1,000 livebirths) and ventricular septal defects (0.69 per 1,000 livebirths). In 11% (2.25 per 1,000 livebirths) of neonatal deaths, infant loss was attributable to congenital anomalies. CONCLUSIONS: The incidence of congenital anomalies in black South African neonates, born in an urban setting, is as high as in other First- and Third-World countries, and the incidence of some individual congenital anomalies is higher. This study indicates the need for further research and the establishment of prenatal, genetics and paediatric facilities to manage these problems.
Academic Medical Centers↗
Major congenital malformations among paediatric admissions at University College Hospital, Ibadan, Nigeria.
The pattern of major congenital malformations seen at University College Hospital, Ibadan, Nigeria among admitted children over a period of 5 years is reported. Their ages at presentation ranged from a few hours to 13 years, and the majority (72.7%) presented in infancy. The male:female ratio was 1.6:1. Cardiovascular, central nervous and gastro-intestinal malformations accounted for 71.6% of all malformations. The commonest individual system malformations were congenital heart lesions, spina bifida, anorectal malformation and omphalocoele, while the highest case fatality rates were recorded in cases of oesophageal atresia, hydrocephalus, biliary atresia and posterior urethral valve. Overall mortality was 19.4%. The importance of both longitudinal and cross-sectional studies of congenital malformations in developing countries, while infectious diseases and malnutrition are being controlled, is emphasized.
Adolescent↗
Sacral agenesis and associated anomalies.
Sacral agenesis can no longer be considered an uncommon disorder. The condition occurs often enough that the clinician should be alert to any signs that may suggest its presence in a newborn. This disease is frequently associated with other anomalies, especially those of musculoskeletal, GU and GI systems. Diagnosis--early diagnosis--is the key to prevention of permanent damage to the kidneys and urinary tract in patients with the disease.
Child↗
Prevalence of congenital malformations and genetic diseases in Korea.
A nationwide investigation of congenital malformations and genetic diseases in Korea was conducted by analyzing Medical Insurance data for infants aged under 1 year. Medical Insurance data were obtained for 1993 and 1994 and the ICD-9 (International Classification of Diseases, Ninth Revision) code was used to classify the diseases. The coverage rate of medical insurance was approximately 95% of the total population. Anomalies of the cardiovascular, musculoskeletal, and gastrointestinal systems, in descending order of frequency, were more frequent than anomalies in other systems. The average prevalence of cardiovascular anomalies for 1993 and 1994 was 15 per 1000 infants, and ventricular septal defect, with an average prevalence of about 3.50 per 1000 for 1993 and 1994, was the most frequent cardiovascular anomaly in infants. Polydactyly was the most frequent musculoskeletal anomaly, with an average prevalence, for 1993 and 1994, of about 1.20 per 1000 infants. Anencephaly had the highest frequency of nervous system anomalies. Congenital hypertrophic pyloric stenosis was the most common of the gastrointestinal anomalies. The prevalence of the congenital malformations and genetic diseases examined was similar to that reported in other countries. Total medical expenses for the care of patients with each disease entity were also estimated. The highest medical expenses were incurred for ventricular septal defect, congenital coagulation factor VIII disorders, atrial septal defect, tetralogy of Fallot, and spinal anomalies, in descending order of magnitude. This investigation could be helpful in planning social welfare systems, as well as for elucidating the current status of congenital malformations and genetic diseases in Korea, and in other Asian countries.
Cardiovascular Abnormalities↗
Monocephalus diprosopus, a rare form of conjoined twins, and associated congenital anomalies.
Craniofacial duplication (diprosopus) is a rare form of conjoined twins. A case of monocephalus diprosopus with anencephaly, cervicothoracolumbar rachischisis, and duplication of the respiratory tract and upper gastrointestinal tract is reported. The cardiovascular system remained single but the heart showed transposition of the great vessels. We present this case due to its rarity, and compare our pathologic findings with those already reported.
Abnormalities, Multiple↗
Sonography of the fetal gastrointestinal tract: anatomic variants, diagnostic pitfalls, and abnormalities.
Prenatal sonography has the potential to show a wide range of abnormalities in a fetus's gastrointestinal tract. Suspected fetal gastrointestinal abnormalities should be interpreted with caution, however, as the sonographic appearance of a healthy fetus's gastrointestinal tract is variable and there is considerable overlap in the appearances of normal and abnormal fetal bowel. Similarly, pathologic processes originating from organ systems other than the gastrointestinal tract can at times exhibit sonographic patterns remarkably similar to those of dilated bowel. This review examines the sonographic findings of gastrointestinal disorders seen in utero, emphasizing potential diagnostic pitfalls arising from confusion with normal anatomy, anatomic variants, and pathologic processes elsewhere in the fetus.
Congenital Abnormalities↗
Miscarriage, stillbirth and congenital malformation in the offspring of UK veterans of the first Gulf war.
OBJECTIVES: To assess whether the offspring of UK veterans of the first Gulf war are at increased risk of fetal death or congenital malformation. METHOD: This was a retrospective reproductive cohort study of UK Gulf war veterans and a demographically similar comparison group who were in service at the time but were not deployed to the Gulf. Reproductive history was collected by means of a validated postal questionnaire between 1998 and 2001. RESULTS: In all, 27 959 pregnancies reported by men and 861 pregnancies reported by women were conceived after the first Gulf war and before November 1997. The risk of reported miscarriage was higher among pregnancies fathered by Gulf war veterans than by non-Gulf war veterans (OR = 1.4, 95% CI: 1.3, 1.5). Stillbirth risk was similar in both groups. Male Gulf war veterans reported a higher proportion of offspring with any type of malformation than the comparison cohort (OR = 1.5, 95% CI: 1.3, 1.7). Examination by type of malformation revealed some evidence for increased risk of malformations of the genital system, urinary system (renal and urinary tract), and 'other' defects of the digestive system, musculo-skeletal system, and non-chromosomal (non-syndrome) anomalies. These associations were weakened when analyses were restricted to clinically confirmed conditions. There was little or no evidence of increased risk for other structural malformations, specific syndromes, and chromosomal anomalies. Among female veterans, no effect of Gulf war service was found on the risk of miscarriage. The numbers of stillbirths and malformations reported by women were too small to allow meaningful analyses. CONCLUSION: We found no evidence for a link between paternal deployment to the Gulf war and increased risk of stillbirth, chromosomal malformations, or congenital syndromes. Associations were found between fathers' service in the Gulf war and increased risk of miscarriage and less well-defined malformations, but these findings need to be interpreted with caution as such outcomes are susceptible to recall bias. The finding of a possible relationship with renal anomalies requires further investigation. There was no evidence of an association between risk of miscarriage and mothers' service in the gulf.
Abortion, Spontaneous↗
Incidence of some surgically correctable congenital abnormalities in South Australia.
A retrospective 5 yr survey of the incidence of some neonatal surgically correctable congenital abnormalities in South Australia has been carried out. Meaningful figures have been obtained for the incidence, in terms of the live birth rate, of obstructive malformation of the gastrointestinal tract, major abdominal wall and diaphragmatic defects, and some anomalies of the genitourinary system. In the main, the incidence of these malformations is similar to that reported from other centers. However the incidence of exomphalos and small bowel obstructions is lower in this series than in others, and the incidence of tracheoesophageal and anorectal anomalies appears to be slightly higher in South Australia than in Victoria. The incidence of diaphragmatic defects, excluding esophageal hiatus, is very similar to that ascertained by the perinatal mortality survey carried out by Butler and Claireaux.
Australia↗
Descriptive profile of birth defects among livebirths in Singapore.
A case-control study of birth defects was carried out in Kandang Kerbau Hospital in Singapore for a three-year period from January 1986 until December 1988. This paper presents the descriptive profile of birth defects among livebirths seen in that hospital. Out of 44,842 livebirths, 678 babies were found to have birth defects, giving a prevalence of 15.13 per 1000 livebirths (95% CI 14.0-16.2). The musculoskeletal system was the most frequently affected system accounting for 161 cases with a prevalence of 3.59 per 1,000 livebirths (95% CI 3.06-4.19), followed by 111 cases with defects of the gastrointestinal system (2.47 per 1,000 livebirths 95% CI 2.04-2.98), 88 cases of chromosomal disorders (prevalence of 1.96 per 1,000 livebirths 95% CI 1.57-2.42), 78 cases with defects of the cardiovascular system (1.74 per 1,000 livebirths 95% CI 1.38-2.17), 73 cases with defects of the urogenital system (1.63 per 1,000 livebirths 95% CI 1.28-2.05), and 52 cases with defects of the central nervous system (1.16 per 1,000 livebirths 95% CI 0.87-1.52). The prevalence of cleft lip, cleft palate in isolation, and cleft lip and palate combined was 1.72 per 1,000 livebirths and the occurrence of Down's syndrome was 1 in 700 livebirths. When reviewed 6 weeks postpartum, the rate of false positives at birth was 4%. In a control group of 709 "normal" cases at birth, the rate of cases not detected at birth but detected at 6 week follow-up, false negatives was 0.84%.
Case-Control Studies↗
Frequency of congenital abnormalities and of anatomical variations among JAX rabbits.
The frequency of congenital abnormalities and anatomical variations as observed among JAX rabbits is reported. Data were drawn from 32,082 inbred and partially inbred rabbits and 3,208 hybrids from the colony of the Jackson Laboratory over an eight-year period. Data reported here include stillbirths, rabbits dying from natural causes, and those killed for specific experimental regimens. Frequency data are based on the number of abnormalities observed in each category as a function of the total number of animals necropsied. This is approximately 95% of the animals born during the eight-year period and gives the frequency of abnormalities within each category rather than the number of individuals with one or more abnormalities. Anatomical variations have been found in almost all organ systems of JAX rabbits. Their presence adds to our knowledge of the characteristics of these strains, a knowledge that is critical to the understanding of the results of experimental manipulation or for determination of the presence of new mutations. There is considerable between-strain variation. Where frequencies are relatively high, the conditions are either known or suspected to be of genetic origin. Most of the anomalies are not deleterious, or their frequency is so low as to cause no problems within the colony. Hybrid populations have substantially fewer anomalies than do the parental strains. Where frequency is relatively high, it tends to be intermediate between the parental strains.
Animals↗