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PubMed1986

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↗
PubMed1995

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↗
PubMed1994

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↗
PubMed1976

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↗
PubMed1999

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↗
PubMed2002

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↗
PubMed1994

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↗
PubMed1977

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↗
PubMed1992

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↗
PubMed1980

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↗
PubMedDate not supplied

[Familial syndrome combining short small intestine, intestinal malrotation, pyloric hypertrophy and brain malformation. 3 anatomoclinical case reports].

Anatomoclinical study of 3 cases of an exceptional malformative condition characterized by: --extreme shortness of the small intestine, --mesenterium commune, --hypertrophic pylorus, --malformation of the central nervous system (heterotopia, absence of operculum temporale). Clinically this malformative condition is characterized by failure and inertia of the intestinal peristalsis producing at intervals of 10-15 days episodes of subocclusion, the repetition of which causes death. The syndrome is familial and seems to be of autosomal recessive inheritance. The absence of mechanical obstruction, the repeated failure of colostomy and ileostomy, the normal aspect of the myenteric plexuses verified by cytoenzymatic and silver stains allow to individualize this anatomoclinical syndrome and to rule out the hypothesis of Hirschsprung's disease, Chagas' disease, idiopathic megacolon or hypoplasia of the myenteric plexuses. The association of cerebral malformations leads to consider the responsibility of a lack of synthesis of a same specific intermediate factor which is up to now poorly determined, implicated in the neuronal migration and neuromuscular transmission.

Abnormalities, Multiple↗
PubMed1999

Isolated deficient alpha6beta4 integrin expression in the gut associated with intractable diarrhea.

BACKGROUND: An infant born with pyloric atresia had development of intractable diarrhea and was found to have total epithelial detachment of gastric and small and large bowel mucosa. She had no skin abnormalities. Parental consanguinity and pyloric atresia in a sibling who died without autopsy suggest an inherited origin for this disorder. The purpose of this study was to examine defects in intestinal and skin cell adhesion. METHODS: Histologic, immunohistochemical, and ultrastructural characteristics of the skin and gut of the patient were compared with that of normal control subjects. Distribution of adhesion molecules was determined. RESULTS: Immunofluorescent analysis of the digestive mucosa showed alpha6beta4 integrin expression deficiency at the epithelial cell-lamina propria junction. Ultrastructural examination of the digestive mucosa revealed a complete epithelial detachment with a cleavage plane lying between the lamina densa and the basal pole of the enterocytes. Consistent with the absence of skin blistering, integrin alpha6beta4 was expressed at the dermal-epidermal junction. Electron micrographs of skin biopsy specimens showed the presence of normal hemidesmosomes and the absence of dermal-epidermal dysadhesion. CONCLUSION: It was postulated that this patient had protracted diarrhea related to epithelial detachment of the digestive mucosa as a consequence of a deficiency of an integrin alpha6beta4 isoform specific to the gut.

Antigens, Surface↗
PubMed1997

Birth defects in infants conceived by intracytoplasmic sperm injection: an alternative interpretation.

OBJECTIVE: To test the hypothesis that liveborn infants conceived by intracytoplasmic sperm injection are at an increased risk of having a major birth defect. DESIGN: Reclassification of the birth defects reported in infants born after intracytoplasmic sperm injection in Belgium and comparison with prevalence estimated in Western Australian population by means of same classification system. SETTING AND SUBJECTS: 420 liveborn infants who were conceived after intracytoplasmic sperm injection in Belgium and 100,454 liveborn infants in Western Australia delivered during the same period. MAIN OUTCOME MEASURES: Estimates of birth prevalence of birth defects and comparisons of odds ratios between cohort conceived after intracytoplasmic sperm injection and Western Australian infants. RESULTS: Infants born after intracytoplasmic sperm injection were twice as likely as Western Australian infants to have a major birth defect (odds ratio 2.03 (95% confidence interval 1.40 to 2.93); P = 0.0002) and nearly 50% more likely to have a minor defect (1.49 (0.48 to 4.66); P = 0.49). Secondary data-led analyses, to be interpreted with caution, found an excess of major cardiovascular defects (odds ratio 3.99), genitourinary defects (1.33), and gastrointestinal defects (1.84), in particular cleft palate (5.11) and diaphragmatic hernia (7.73). CONCLUSIONS: These results do not confirm the apparently reassuring results published by the Belgian researchers of intracytoplasmic sperm injection. Further research is clearly required. Meanwhile, doctors practising intracytoplasmic sperm injection should bear this alternative interpretation in mind when they counsel couples and obtain informed consent for the procedure.

Adolescent↗
PubMed1998

Congenital malformations presenting during the neonatal period.

Discharge of the newborn within 24 to 48 hours after birth makes it more difficult to detect some congenital malformations and increases the need for careful examination and review of the history of the pregnancy, delivery, and nursery course. Progressive physiologic changes after birth, especially in the cardiovascular system, precede the development of signs indicative of disease for certain congenital malformations. Discharge before these changes occur may delay their detection because the newborn is not being monitored by medical or nursing caregivers. The AAP Committee on the Fetus and Newborn has published guidelines for criteria for safe discharge and follow-up evaluation to help create a safe situation for such early discharges. Some specific observations at birth may lead to earlier diagnosis. Careful attention to subtle differences between the initial and follow-up examination, such as a changing cardiac murmur or quality of pulses or abdominal fullness, may provide clues to the diagnosis of congenital malformations. Coordinated suck and swallow with successful feeding and passage of stool and urine within 24 hours after birth should occur before discharge. Reports of feeding difficulties should be reviewed. Although a thorough examination is facilitated by a sleeping infant, documentation of a normal pitched cry helps in the evaluation of the upper airway. Parents should be counseled about signs of illness that warrant medical attention, and early follow-up is needed to detect problems early enough to intervene effectively. In addition, although passage of a feeding tube through each nare and to the stomach with aspiration and measurement of gastric volume is not a routine procedure in the well, term newborn, this may be a useful early diagnostic tool in infants with signs or a maternal or nursery history suggestive of nasal or GI obstruction.

Cardiovascular Abnormalities↗
PubMed1972

Enteric duplications.

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Congenital Abnormalities↗