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PubMed1995

Congenital anomalies in rural black South African neonates--a silent epidemic?

STUDY OBJECTIVE: To ascertain the incidence and spectrum of congenital anomalies in neonates born in a rural hospital. DESIGN: This was a prospective, hospital-based study, undertaken on liveborn neonates over the period 12 June 1989 - 31 December 1992. SETTING: Mankweng Hospital, Sovenga, Northern Transvaal. MAIN RESULTS: Of a total of 10,380 neonates born during this period, 7,617 (73.4%) were examined within the first 24 hours of life. On the basis of published observations, only 26.2% of severe congenital anomalies diagnosable by age 5 years are diagnosable at birth. In this South African study the finding at birth of severe, externally visible congenital anomalies in 14.97 per 1,000 livebirths could mean that by age 5 years the minimum cumulative incidence of severe congenital anomalies may involve 57.14 per 1,000 children. Extrapolating from other Third-World studies, the cumulative incidence of severe congenital anomalies in such communities may affect up to 84.85 per 1,000 children by the age of 5 years. High incidences of neural tube defects (3.55 per 1,000 livebirths) and Down syndrome (2.10 per 1,000 livebirths), both conditions which can be prevented by prenatal screening, were recorded. CONCLUSIONS: These figures indicate the necessity for inclusion of appropriate prenatal, genetic, family planning and paediatric facilities into the primary health care delivery system of rural areas, to manage such problems and to initiate programmes to reduce the incidence of selected congenital anomalies such as Down syndrome and neural tube defects.

Abnormalities, Multiple↗
PubMed1998

Prenatal diagnosis of major malformations: quality control of routine ultrasound examinations based on a five-year study of 20,248 newborn fetuses and infants.

Antenatal ultrasound screening for birth defects is increasingly becoming a routine procedure of prenatal care. Prenatal detection of malformations and subsequent adjustment of obstetric management are essential for secondary prevention. It is unknown whether ultrasound screening is effective in all pregnant women, or should only be performed in high risk populations. From 1990-1994, 20,248 livebirths, stillbirths and abortions underwent physical and sonographic examinations and anamnestic data were collected. To identify the high risk group, case control analyses of births with one of the 23 selected major malformations (controls) were performed with respect to anamnestic risk factors. All women had at least three routine ultrasound scans. The selected malformations were diagnosed in 298 children; 95 (30.3 per cent) were diagnosed antenatally. Detection rates were: CNS (68.6 per cent), gastro-intestinal tract (42.3 per cent), urinary system (24.1) per cent), heart (5.9 per cent). Complications during pregnancy were calculated as indicators of congenital anomalies: premature labour (< 28 week) OR 4.7 (3.8-5.9), placental insufficiency OR 1.9 (1.1-2.7) and vaginal bleeding OR 1.5 (1.2-1.8), etc. Antenatal routine ultrasound screening is not effective risk populations. Anamnestic risk factors risk factors during pregnancy may be essential indicators for identifying high risk populations. We propose screening of the described high risk pregnancies (about 22 per cent of all pregnancies) to be performed by specially trained and highly experienced ultrasonographers to increase sensitivity rates and benefit cost effectiveness.

Central Nervous System↗
PubMed1988

Duplications of the alimentary tract. Clinical characteristics, preferred treatment, and associated malformations.

Duplications of the alimentary tract are unusual congenital anomalies that frequently present a diagnostic as well as therapeutic challenge to the surgeon. Because these lesions occur so infrequently, they are often not suspected until encountered intraoperatively. Due to the complicated anatomy and common blood supply shared between the duplication and associated native bowel, appropriate management requires a familiarity with the anatomy and clinical characteristics of this entity. To better define the range of patient characteristics, clinical presentation, and preferred therapy, 20 enteric duplications were reviewed in 17 patients treated at the Children's Hospital Medical Center from 1956 to 1986. Ages of patients ranged from 1 day to 11 years; 60% were less than 2 years of age at initial presentation. Seven duplications in six patients involved alimentary tract structures of foregut derivation (esophagus, stomach, and Parts I and II of duodenum), with a predominance of girls (4 of 6). Most of these patients (67%) presented with moderate to severe acute respiratory distress and a mass present on chest radiograph. In 67% of the patients, the correct diagnosis was established before operation. None required emergency operative intervention. By contrast, 13 duplications in 11 patients were of midgut or hindgut derivation (Parts III and IV of the duodenum, jejunum, ileum, and colon). In this group of patients, 62% of the duplications involved the cecum, 23% involved the ileum, and 16%, the jejunum. Seventy-eight per cent of the patients were boys. The most common symptoms were nausea and vomiting, and the most common sign was a palpable abdominal mass. Emergency operative intervention was required of eight of 11 patients with duplications involving the small bowel and colon. Three patients presented with an intussusception, four with signs and symptoms consistent with acute appendicitis, one with a small bowel obstruction, and two with gastrointestinal hemorrhage due to the presence of ectopic gastric mucosa within the duplication. It was found that two important points must be considered in regard to the management of enteric duplications: (1) the common blood supply shared between the duplication and native bowel must be carefully protected to avoid undue sacrifice of normal bowel, and (2) the presence of heterotopic gastric mucosa in 35% of patients negates internal drainage.(ABSTRACT TRUNCATED AT 400 WORDS)

Abnormalities, Multiple↗
PubMed1989

Orthotopic transplantation of the liver in children with biliary atresia and polysplenia syndrome: report of two cases.

Biliary atresia is the most common indication for liver transplantation in infants and children, despite the advent of the Kasai operation. Coexisting anomalies, which have been noted in up to 27% of patients with biliary atresia, may form an association known as the "polysplenia syndrome," which includes (1) polysplenia, (2) midgut malrotation, (3) preduodenal portal vein, (4) absent prerenal inferior vena cava with azygos continuation, (5) situs inversus, (6) symmetric liver, (7) hepatic arterial anomalies, and (8) bilobed right lung with hyparterial bronchus. Two of 31 patients undergoing orthotopic liver transplantation for biliary atresia following failed portoenterostomy over the past 11 years manifested the polysplenia syndrome with absent prerenal inferior vena cava. The clinical course of these patients, constellation of anomalies, and technical adjustments required to perform liver transplantation are described. We do not believe that these complex congenital anomalies preclude liver transplantation.

Abnormalities, Multiple↗
PubMed1981

Duplications of the alimentary tract.

A review of 53 patients with 60 duplications of the alimentary tract treated at the Royal Hospital for Sick Children, Glasgow, from 1947 to 1978 has been made. This consisted of 19 foregut, 32 midgut and 9 hindgut duplications. The experience with these patients has been recorded and discussed with reference to the literature.

Abnormalities, Multiple↗
PubMed1990

Cloacal exstrophy: individualized management through a staged surgical approach.

Cloacal exstrophy, centered on the maldevelopment of the primitive streak mesoderm and cloacal membrane, results in bladder and intestinal exstrophy, omphalocele, gender confusion, and hindgut deformity. The surgical management and outcome of 10 of 14 survivors (1965 to 1988) are described. Genotypic males (6) were assigned male (2) or female (4) phenotype. Genotypic females (4) were unchanged. All had omphalocele closure in the newborn period. Two had loop stomas. Eight had end stomas (ileostomy [6], ileocolostomy [2]). Toddler and adolescent reconstruction differed in each. Early in the study, abdominoperineal pull-through failed in four patients, necessitating permanent stoma. Four patients had a stoma from the outset. Augmentation using colon remnant improved water loss and nutrition in two infants. Exstrophy turn-in for urinary reservoir was considered in all, but was impossible in three who required urinary diversion. Six patients had exstrophy turn-in and now void by clean intermittent catheterization (4), continent vesicostomy (1), and incontinent (1). Hindgut augmentation improved urinary capacity in two. Two genotypic-phenotypic males had penile lengthening. Four genotypic male-phenotypic females had early orchiectomy with subsequent clitoroplasty or vaginoplasty. Four genotypic-phenotypic females had clitoroplasty or vaginoplasty. Cloacal exstrophy is compatible with a useful life and sound psychologic development, but requires staged reconstruction with long-term support and follow-up.

Abnormalities, Multiple↗
PubMed2003

Intussusception and intestinal malrotation in an infant: a case report.

An abnormal cecum position is usually found in patients with intestinal malrotation. We report one case with intussusception and intestinal malrotation in a 10-month-old infant. An unusual radiologic imaging feature and also abnormal intussusception mass location are discussed.

Digestive System Abnormalities↗
PubMed1997

[Intestinal emergencies in newborn infants].

Imaging plays a major role in most neonatal gastrointestinal emergencies. The role may vary from helping to establish a diagnosis, to the evaluation of associated abnormalities, to surgical planning, or to therapy for some conditions like meconium ileus or meconium plug syndrome. Plain radiographs and ultrasound serve a primary imaging modalities with bowel contrast examinations, CT scan, and MR imaging playing roles in more complex cases.

Abdomen, Acute↗
PubMed1982

Follow-up studies of children treated with a long-term intravenous nutrition (IVN) during the neonatal period.

The outcome of the 28 children treated with intravenous nutrition (IVN) for more than 4 wk during the neonatal period was investigated. Ten of the 28 children had a normal length of small bowel (group 1) and the other 18 children had a short bowel (group 2). Eight of these 28 children (4 in group 1 and 4 in group 2) died during or after cessation of IVN; three died from complication of IVN and 5 died from their initial disease. On physical examination, delay in catch-up growth was observed in the early postoperative period, particularly in children in group 2, but this diminished with time. Mental and emotional development showed both groups to be within the normal range, except for two children. Intellectual function was also normal in five children over the age of 4 yr who were examined. Hepatic dysfunction was noticed during IVN in 30.0% in group 1 and 66.7% in group 2, indicating that the longer the duration of IVN, the higher the incidence of liver damage. Furthermore, histologic abnormalities in these neonates lasted for a longer time. These results imply that long-term IVN during the neonatal period in surgical patients does not interfere with physical and developmental growth. However, careful and long-term follow-up of liver function after IVN is necessary.

Child↗
PubMed1982

The bacterial flora of neonates with congenital abnormalities of the gastro-intestinal tract.

The development of the bacterial flora of neonates with congenital abnormalities of the gastro-intestinal tract was studied in 31 infants during the first 10 days of life. Specimens were collected from the umbilicus, mouth and gastro-intestinal tract on the pre-operative day, at operation and on post-operative days 1, 2, 3, 5, 7 and 10. Bacteria were isolated semi-quantitatively on a variety of plain and selective media and identified by conventional methods.Staphylococcus albus was the predominant species isolated from the umbilicus; it was recovered from 24 of the 31 babies. The viridans group of streptococci and Streptococcus salivarius were the commonest species isolated from the mouth; there were no differences between the babies with different abnormalities and treatment with antibiotics had no effect on the bacterial flora. Ten babies were colonized by each species on the pre-operative day, and 25 and 19 respectively by the tenth post-operative day. Anaerobic gram-positive cocci were the predominant oral anaerobes. Bacteria were not isolated from the rectal swabs of babies with tracheo-oesophageal fistula (TOF) or small bowel atresia on the pre-operative days. Post-operatively the predominant faecal isolates from babies with TOF were Str. faecalis, Escherichia coli and Clostridium perfringens. About 80% of the babies with small bowel atresia were colonized by Str. faecalis and Bacteroides vulgatus, 60% each by E. coli, Klebsiella aerogenes and Str. faecium. The five babies with necrotizing enterocolitis were colonized by Str. faecalis, E. coli, Cl. perfringens and Cl. difficile; Bacteroides spp. were not recovered from any of them. The commonest facultative species recovered from babies with large bowel obstruction were Str. faecalis and E. coli. B. vulgatus, Cl. perfringens and Bifidobacterium spp. were the commonest anaerobes and anaerobes outnumbered aerobes. No significant isolates were recovered from the wound swabs and none of the babies developed post-surgical sepsis.

Bacteria↗
PubMed2002

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↗
PubMedDate not supplied

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↗
PubMed1987

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↗