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PubMed1991

[Preventive operations in intestinal abnormalities].

In intestinal anomalies, preventive surgical procedures include gastrostomies and enterostomies as well as some special operations such as ligature of the cardia and associated appendectomies. General indications for enterostomies are seen in life-threatening circumstances, i.e. prematurity, surfactant deficiency, major associated malformations and complications. Preventive surgical procedures are necessary in certain cases of esophageal atresia, complicated small bowel atresia, meconium ileus, anorectal malformations, Hirschsprung disease, neuronal intestinal dysplasia and necrotizing enterocolitis. Prophylactic surgery requires detailed knowledge of the definitive therapeutic procedure.

Abnormalities, Multiple↗
PubMedDate not supplied

[Incidence of congenital malformations at birth in a series of maternity patients of Guadeloupe].

A study of 8,142 live and still-born babies was carried out from July 1979 to February 1983 in Guadeloupe (French West Indies). The total incidence of malformations detected at birth was 1.71% (minor malformations such as polydactyly being very frequent in this population were excluded). Among the malformed children, 25% had multiple malformations and 17% were still-born. Two types of malformations seem to be particularly frequent: those of the central nervous system (3.8%) and of the digestive tract (2.45%). The malformed group differs in birth-weight and size, in still-birth rate and in the incidence of obstetrical history.

Abnormalities, Multiple↗
PubMedDate not supplied

[Congenital developmental defects negatively affecting the viability of children of Kursk region: prevalence, pattern, trends].

The distribution of and time trends in congenital defects of development (CD) influencing viability of children in the Kursk region were studied on the basis of 4517 autopsy reports for the period 1985-1994. A total of 880 children had CD (5.40%). The incidence of CD in towns (6.38%), was higher than in country regions (4.91%), p < 0.001, being the highest in the central parts of the region. Among the stillborns the specific proportion of congenital defects was 14.53%, perinatal deaths occurred in 16.96%, deaths during the 1st year of life in 22.10%. The percentage of multiple congenital defects, the defects of cardiovascular system, developmental anomalies of digestive system, the defects of central nervous system and organs of sense was 39.77, 27.16, 10.11 and 8.30, respectively.

Abnormalities, Multiple↗
PubMedDate not supplied

Routine obstetrical ultrasound at 18-22 weeks: our experience on 7,236 fetuses.

OBJECTIVE: This study aimed at examining the detection rate of congenital abnormalities by using routine ultrasonography at 18-22 weeks of gestation. METHODS: The sample included 7,236 fetuses. A detailed sonographic examination was performed in each fetus and a neonatal evaluation or pathology examination was made to confirm the prenatal findings. RESULTS: The total prevalence of fetal abnormalities in our sample was 2.24% (162/7,236). There were 29/162 (17.9%) fetuses with CNS abnormalities, 27/162 (16.7%) fetuses with gastrointestinal abnormalities, and 28/162 (17.3%) fetuses with urinary tract abnormalities. There were also 31/162 (19.1%) fetuses with cardiovascular abnormalities, 26/162 (16.0%) with malformation of the limbs and musculoskeletal system, and 21/162 (13%) fetuses with other various abnormalities. The overall sensitivity in detecting fetuses with congenital abnormalities was 80.25% (130/162). The sensitivity per system was 93.1% (27/29) for CNS, 45.2% (14/31) for cardiovascular system, 85.2% (23/27) for gastrointestinal system, 85.7% (24/28) for urinary system, 84.6% (22/26) for musculoskeletal system, and 95.2% (20/21) for the rest of the abnormalities detected. We performed 40 pregnancy terminations in the group of malformed fetuses. Among the fetuses considered as normal, 1.7% had chromosomal abnormalities. CONCLUSIONS: The results indicate that routine sonographic examination at 18-22 weeks of gestation can detect the majority of congenital abnormalities. More experience is needed for the examination of the cardiovascular system, where the sensitivity was particularly low (14/31 or 45.2%).

Central Nervous System↗
PubMed1995

Ultrasonography in pregnancy and fetal abnormalities: screening or diagnostic test? IPIMC 1986-1990 register data. Indagine Policentrica Italiana sulle Malformazioni Congenite.

The aim of the present study was to assess the sensitivity of ultrasound diagnosis used as a screening test in detecting major congenital anomalies in the prenatal period in a large nation-based multicentre setting. Data from the IPIMC register were collected in the period 1986-1990. One hundred and thirty-five hospitals, located in 17 out of the 20 regions in Italy, participated in the register. Study cases were 3479 infants with major congenital anomalies diagnosed at birth or in the first week of life. Subjects with chromosomal anomalies or multiple defects were excluded. The sensitivity of ultrasound prenatal diagnosis was 49.5 per cent for central nervous system anomalies, 3.8 per cent for congenital heart diseases, 17.1 per cent for gastrointestinal tract defects, 46.6 per cent for abdominal wall defects, 74.8 per cent for urinary tract anomalies, and 22.9 per cent for skeletal abnormalities. The detection rate for diaphragmatic hernia was 24.2 per cent. Overall, only 18 per cent of the defects diagnosed in utero were detected before 24 weeks' gestation. The sensitivity of prenatal diagnosis was 30.1 and 19.0 per cent in the northern, central, and southern regions, respectively. In light of its low sensitivity, ultrasonography as a screening test in the general population should be abandoned, although some improvement in its performance should be expected following adequate training of the ultrasound staff and the use of good technical equipment.

Abdominal Muscles↗
PubMed1987

Search for teratogenic risks with the aid of malformation registries.

A summary is given of experiences in the use of the Swedish registries of birth defects for causal epidemiological studies. Case-control studies and cohort studies are described and exemplified. The application of case-control techniques to cohorts of women selected for probable or possible exposure is also described. The importance of using large-scale registry studies in the search for common but low-risk teratogens is stressed.

Abnormalities, Drug-Induced↗
PubMed1995

Duplications of the alimentary tract in infants and children.

Duplications of the alimentary tract are rare congenital anomalies that could present a diagnostic as well as therapeutic challenge. Twenty-seven patients with duplications of the alimentary tract were treated at Childrens Hospital Los Angeles between 1961 and 1992. Ages ranged from a few days to 5 years (67% younger than 1 year). The most common symptoms were nausea and vomiting, and the most common sign was a palpable abdominal mass. Three patients presented with gastric duplication, which was excised. The majority of the duplications were in the jejunum and ileum. All patients except one had primary resection of the duplication. One patient with a 45-cm tubular jejunal duplication was treated with mucosal stripping of the duplication. Five patients had cecal duplication, three patients presented with melena because of ectopic gastric tissue in the duplication, and two presented with intestinal obstruction. One of the latter patients presented with intussusception with cecal duplication as the leading point. Three patients with colonic duplication presented with abdominal pain and vomiting leading to excision of the duplication. Of the five patients with rectal duplication, three presented with chronic constipation. The other two patients presented elsewhere with perianal swelling, which eventually was drained because of a mistaken diagnosis of perianal abscess. Subsequently, these two patients came to us with persistent perineal fistula. In all our patients, rectal duplications were removed through a sacroperineal incision. The only patient in this series who died was a 6-week-old boy with gastric duplication; his death was attributed to an associated severe cardiac lesion.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Multiple↗
PubMed1983

[Prenatal ultrasonic diagnosis of malformations and their surgical consequences--a new chapter in pediatric surgery].

The importance of antenatal diagnosis of malformations for the paediatric surgeon is highlighted on the basis of the authors' own studies. Among 34000 examinations of pregnant women we found 40 malformations (0.1%), 12 of which were surgically corrected postnatally: 6 malformations of the urinary tract, 3 intestinal atresias, 2 ovarian cysts and 1 hydrocephalus. 6 cases are described in greater detail in consideration of the special problems involved. It is stated that today practically all gross malformations can be recognised prenatally. There are three groups as follows, with their pertaining consequences: non-viable, immediate surgical correction, and postponed need for immediate intervention. The necessity of close co-operation between gynaecologist, neonatologist and paediatric surgeon is stressed, as well as the need for including the parents in the consultations. Prognosis of correctable malformations can be improved by termination of birth and immediate interdisciplinary care of the newborn.

Central Nervous System↗
PubMed1980

Diagnosis and assessment of fetal malformation and abnormalities by ultrasound.

With remarkable improvements in antenatal, intrapartum and the newborn care, the proportion of perinatal problems attributable to congenital abnormalities has significantly increased. The number of deaths due to fetal malformations in some countries now approaches the number due to prematurity and it is justifiable to believe that abnormalities will soon be heading the league of causes of perinatal death. Even with the most advanced treatment teams and resources, many seriously malformed children cannot be habilitated to any reasonable degree. It is therefore obvious that the future of these types of disorders lies ultimately in their prevention. This has long been the hope of obstetricians and in certain abnormalities this can become a reality. With the advent of ultrasound, many structural anomalies cannot be evaluated by direct visualization of the placenta and fetal anatomy. The number of pregnancies monitored available and as public education about genetics increases. Diagnostic ultrasound has proved to be a powerful means of preventing the birth of babies with significant defects. If this has not been achieved in early pregnancy, the knowledge that the fetus is or may be abnormal at the end of pregnancy can still be valuable, since the management of patients before and during labour could be radically altered. Therefore, ultrasound examination should be preferred as the initial test because it is without risk and produces no side effects.

Abdomen↗