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PubMed1972

Enteric duplications.

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Congenital Abnormalities↗
PubMed1992

Can maternal risk factors influence the presence of major birth defects in infants with Down syndrome?

Although the manifestations of Down syndrome (DS) are well known, certain major birth defects such as duodenal atresia and endocardial cushion defects are present in some infants but not others, suggesting the possible role of other genetic or environmental factors interacting with the trisomy genotype. To explore the possible role of maternal factors in the presence of major defects among DS infants, we examined data from an epidemiologic study of DS conducted in metropolitan Atlanta. Of 219 DS infants born between 1968 and 1980, 50 had recorded cardiac defects, 9 had selected gastrointestinal atresias and 4 had oral clefts. We evaluated the association of these defects with several maternal factors including age, race, first trimester cigarette smoking, alcohol use, and fever. We found that different maternal factors were associated with several defects: (1) mother's race with cardiac defects (40% in blacks vs. 17% in whites, P less than 0.01), (2) mother's age with oral clefts (6% for less than 25 years, 1% for 25-34, and 0% for greater than 34, P less than 0.05), and (3) maternal first trimester fever with gastrointestinal defects (15% in infants with history of fever and 3% in infants without a history of fever, P less than 0.01). We also observed an inverse relationship between maternal alcohol use and the presence of ventricular septal defect. These findings suggest that maternal risk factors may influence the clinical manifestations of DS. In addition to searching for a genetic basis for the DS phenotype, we suggest that the role of environmental factors and maternal exposures be specifically explored in clarifying the genesis of various birth defects in Down syndrome.

Alcohol Drinking↗
PubMed1991

Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: their characterization and delineation of defects in pregnancies at risk.

During a follow-up study of 19,790 pregnancies at risk for a genetic disease, from 1968 to 1989, 1083 fetuses were found to have an anomaly during the second trimester, leading to 977 terminations of pregnancy. Neural tube defects (31.4 per cent), chromosomal disorders (27.1 per cent), and Mendelian or multifactorial diseases (10.6 per cent) were the main causes of fetal anomaly. More than half (52.9 per cent) of the fetal anomalies were detected by routine ultrasound examination. Forty-two per cent of cystic hygromas were secondary to a chromosomal defect. We stress the importance of a comprehensive fetal and newborn examination to ensure an accurate diagnosis so that subsequently accurate counselling can be provided.

Abdominal Muscles↗
PubMed1965

[HALLUX VALGUS].

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Congenital Abnormalities↗
PubMed1993

Glucose utilization in the surgical newborn infant receiving total parenteral nutrition.

Glucose is the main source of nonprotein calories in total parenteral nutrition (TPN). However, its use has been associated with various nutritional, metabolic, and respiratory complications. The aim of this study was to determine, in the stable surgical newborn infant, the characteristics of carbohydrate metabolism, in particular the maximum oxidative threshold for intravenous glucose and the thermogenic effect of glucose. Twenty-one studies were done on 11 infants (weight 2.82 +/- 0.19 kg) receiving TPN containing constant amounts of amino acids (2.5 g/kg/d) and fat (3.0 g/kg/d), and different amounts of glucose (range, 10 to 25 g/kg/d). Oxygen consumption (VO2), carbon-dioxide production (VCO2), and resting energy expenditure (REE) were measured by indirect calorimetry. Urinary nitrogen excretion rate was measured and substrate utilization calculated from the nonprotein respiratory quotient (NPRQ). There was a positive correlation between the predictor variable glucose intake and the dependent variables VO2 (r = .55; P < .05), VCO2 (r = .83; P < .0001), REE (r = .65; P < .005), NPRQ (r = .94; P < .0001), respiratory rate (r = .46; P = .06), and plasma triglycerides level (r = .67; P < .01). When glucose intake exceeded 18 g/kg/d the NPRQ was greater than 1.0, indicating glucose conversion to fat. Above this level of intake, the gradient of the correlation between the predictor variable glucose intake and the dependent variables VCO2 and REE increased. From this study we conclude that: (1) Glucose intake is the principal determinant of glucose utilization and exerts an influence on the metabolism of exogenous fat.(ABSTRACT TRUNCATED AT 250 WORDS)

Calorimetry, Indirect↗
PubMed1991

Paediatric emergencies.

During the last decade neonatal surgical results have improved considerably. Except for infants born with serious congenital heart disease, diaphragmatic hernia or exomphalos, postoperative mortality rates for infants with single anomalies have fallen to the region of 10%. This dramatic success story has been marred by a corresponding increase in the number of individuals with several anomalies entering late childhood with severe chronic handicaps. During the remainder of this century much effort will be expended in devising programmes of investigation which will attempt to predict which individuals will have a poor long-term prognosis. Such programmes will necessitate very close liaison between obstetricians, radiologists, neonatologists, local paediatricians, paediatric surgeons, general practitioners and parents. Very urgent surgery is necessary for the best results in infants with gastroschisis, intestinal volvulus and irreducible inguinal hernia, but for most other conditions there have been recent trends away from very urgent surgery to operation during daylight hours within the ensuing 24 h. Surgery within a few hours of presentation is necessary for intussusception and for early acute appendicitis, but perforated appendicitis should be treated by aggressive fluid replacement and intravenous antibiotics and surgery should be contemplated only in the rare cases of continued deterioration.

Child↗
PubMed1983

The importance of an antenatal ultrasonographic diagnosis of correctable fetal malformations.

This study describes the importance of an early echographic examination during pregnancy for the antenatal diagnosis of fetal anomalies potentially correctable after birth. During a period of 18 months there were 28 cases. In seven fetuses a gastrointestinal malformation was diagnosed between 20 and 36 weeks of gestation; there were 16 cases of urogenital anomalies detected between 19 and 38 weeks of gestation, and five other various malformations were detected between 17 and 33 weeks of gestation (two diaphragmatic hernias, one congenital heart malformation, and two cases of benign tumors). This study suggests that ultrasonic antenatal diagnosis could result in a decrease in the morbidity of congenital malformations that are correctable if the delivery is carried out in a high-risk perinatal center.

Congenital Abnormalities↗
PubMed1979

Ultrasound in the diagnosis of congenital anomalies.

With high-resolution ultrasound equipment, it is now possible to diagnose certain fetal anomalies in the third trimester and in some cases before the twentieth week of gestation. During a 27 month period 2,548 ultrasound scans were performed in high-risk patients. An anomaly was diagnosed in 10 of 122 second-trimester patients who were at risk for recurrent fetal defects. Fetal deformity was also found in 26 third-trimester patients. Of the 2.8% of patients found to have polyhydramnios 18% were associated with various types of anomaly. With ultrasound it was possible to examine internal fetal anatomy and to identify abnormalities of the fetal cranium, spine, chest, abdomen, and limbs. These anomalies are reviewed here in detail. Based on ultrasonically derived information, second-trimester patients can be offered information concerning the status of their fetuses at risk genetically and physicians can better manage third-trimester patients with diagnosed fetal deformities.

Amniotic Fluid↗
PubMed1998

Correlation between Down's syndrome and malformations of pediatric surgical interest.

PURPOSE: This is a collaborative study carried out by Pediatric Surgeons of the "G.D'Annunzio" University and the Regional Association of Down Children of Abruzzo (Italy). METHODS: Data were collected of malformations combined with Down Syndrome (DS) during a 10-year period in a population of defined age to look for a possible improvement of the patients' life conditions. Reportedly, 50% of these patients may reach an age of about 60 years. RESULTS: One hundred twenty-seven DS subjects from this region were evaluated, 54% of whom had associated malformations (13% cardiac, 41% extracardiac, and 13% both). Seventeen patients of 53 underwent surgery for extracardiac malformations, with gastrointestinal malformations prevailing. The largest number of DS babies were born from mothers under 30 years of age; this is attributed to the largest birth rate and the least prevention at this age. Mothers older than 38 years gave birth to DS babies with the lowest rate of associated malformations. CONCLUSION: The role of the pediatric surgeon in multidisciplinary assistance for DS patients is stressed.

Adolescent↗
PubMed2002

Advances in fetal and neonatal surgery for gastrointestinal anomalies and disease.

The last decade has seen considerable improvement in the understanding and treatment of neonatal surgical disorders. Translation of basic molecular biology research to clinical practice has directly improved the understanding and treatment of a number of congenital, developmental disorders, such as Hirschsprung's disease and congenital hyperinsulinism. Miniaturized instruments and improved optics have permitted increased use of videoscopic and minimally invasive techniques to even the smallest infants. Continued improvements in prenatal imaging will permit enhanced understanding of the prenatal natural history of congenital structural disorders and the development of more specific therapies. Finally, rigorous clinical research tools have begun to be applied to rare pediatric surgical disorders with the use of organized multicenter trials. It is an exciting time for all involved in the care of neonates.

Congenital Abnormalities↗
PubMed1985

[Sonographic diagnosis of severe fetal malformations].

The present paper reports on results of ultrasonographic examination in the identification of severe congenital malformations in the period between 1975 and 1982. The incidence of severe congenital malformations in relation to the total number of births during this period was 159 out of 11,372 (1.4%). In 144 cases with severe malformations at least one antenatal ultrasonographic examination had been performed. According to their topographic location, 42% of these were head/neural tube defects, 38% trunk/organ defects, only 2% were severe defects of the extremities and 18% were rare fetal malformations. As a result of previous ultrasonographic examinations at specialists' practices 60% of the cases were referred to the authors' clinic for further clarification with a correct diagnosis or a suspected fetal malformation. Of all the sonographically demonstrable structural defects of the fetus, 81% of all severe fetal defects seen at the authors' clinic during the period in question were identified correctly. If the observation period is divided into the years 1975 to 1979 and 1980 to 1982, there is a striking rate of increase in the number of antenatal ultrasonographic diagnoses which were correct, from 71% in the first period to 86% between 1980 and 1982. Most of the false-negative ultrasonographic findings were congenital cardiac abnormalities, since up to that point no special fetal echocardiographic examinations had been performed. In the entire period covered by the investigation there was only one false-positive finding ("Potter's syndrome"). Forty-six per cent of the ultrasonographically demonstrated severe fetal malformations were diagnosed before the end of the 24th week of pregnancy, and 54% after the end of the 24th week of pregnancy. Only in 60 out of 141 cases (43%) with severe fetal malformations was the quantity of amniotic fluid found to be normal; 26% of the cases had hydramnios and 31% oligohydramnios. Pathologic movement behaviour had been registered ultrasonographically in 43% of the cases with severe fetal malformations; biometric dimensions of the biparietal cranial diameter and the transverse diameter of the thorax (greater than 10th percentile to 90th percentile, according to the percentile growth curves of Schmidt, 1982) corresponding to gestational age had only been measured in 30% and 50%, respectively, of the cases with fetal malformations. During the entire period covered by the investigation, from 1975 to 1982, only 16 children born at term (between the 38th and 42nd weeks) had severe malformations which had not already been diagnosed.(ABSTRACT TRUNCATED AT 400 WORDS)

Amniotic Fluid↗