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PubMed1978

Extracardiac malformations associated with congenital heart disease.

The incidence of significant extracardiac malformations was determined in a combined clinical and autopsy study comprising 1000 infants and children with congenital heart disease treated and lost at the Children's Hospital in Helsinki. There were 567 boys and 433 girls. 1/4 of the children had a birthweight of 2500 g or less. 850 children were under 1 yr old. Death occurred during the 1st mth of life in 546 cases. Extracardiac malformations were encountered in 439 children. They were more common in girls than in boys. The incidence of associated malformations was comparatively high in infants with a low birthweight. The noncardiac anomalies were considered main causes of death in 1/3 of the cases. Extracardiac organs were involved in the following order of frequency: alimentary, skeletal, urogenital, central nervous and respiratory system. Of the main cardiac malformations, septal defects were associated with the highest and transposition of the great arteries with the lowest incidence of extracardiac anomalies. An accumulation of some defined noncardiac malformations was observed in patients with certain heart lesions.

Abnormalities, Multiple↗
PubMed2005

Fetal MRI of urine and meconium by gestational age for the diagnosis of genitourinary and gastrointestinal abnormalities.

OBJECTIVE: The purpose of our study was to assess the appearance of the colon and genitourinary tract in fetuses with respect to gestational age with T1- and T2-weighted MRI acquisitions and their applications to abnormalities in these systems. MATERIALS AND METHODS: Retrospective review of the fetal MRI database was performed to select studies in which both T1- and T2-weighted acquisitions were obtained. The signal characteristics of fluid in the fetal colon and urine in the fetal bladder were evaluated, and gestational age and fetal MRI diagnosis were recorded. A Mantel-Haenszel chi-square analysis was performed to evaluate the relationship of gestational age to MRI signal intensity. In fetuses with suspected colonic and genitourinary abnormalities, an assessment was made about whether the T1-weighted findings added information to the T2-weighted findings. RESULTS: Eighty fetal MRI studies were reviewed. Forty-three studies showed normal findings, and 37 depicted genitourinary or gastrointestinal abnormalities. The mean gestational age was 27 weeks 6 days. The MRI signal characteristics of urine and meconium became significantly more conspicuous with increasing gestational age (urine bright on T2, p < 0.001; urine dark on T1, p < 0.001; meconium bright on T1, p < 0.001; meconium dark on T2, p < 0.001). Of the 37 cases with suspected problems of the gastrointestinal or genitourinary systems, the T1-weighted images added additional information in 23 cases. CONCLUSION: The appearance of urine and meconium on T1- and T2-weighted images is significantly more apparent with increasing gestational age. T1-weighted images identified meconium in the colon beyond 24 weeks' gestation and aided in the diagnosis of complex abnormalities.

Colon↗
PubMed1996

Pattern of retinoid-induced teratogenic effects: possible relationship with relative selectivity for nuclear retinoid receptors RAR alpha, RAR beta, and RAR gamma.

Retinoic acid, an oxidative metabolite of vitamin A, is involved in the control of many biological processes including embryonic development. Excess as well as deficiency of retinoids were found to be teratogenic. The effects of retinoids in normal as well as abnormal development may be mediated by two members of retinoid receptors, the RAR's and RXR's, which exhibit a specific temporal and spatial expression during development. The significance of the retinoid receptors was investigated here by studying the teratogenic effects of retinoid ligands with relative selectivity for binding and transactivation of the retinoic acid receptors RAR alpha, RAR beta and RAR gamma. Pregnant NMRI mice were administered 5 or 15 mg/kg of CD 336 (Am 580) (alpha-ligand), CD 2019 (beta-ligand), CD 437 (gamma-ligand) or 37.5 mg/kg all-trans-retinoic acid in 25% Cremophor EL on day 8.25 or day 11 of gestation by gastric intubation. External, visceral and skeletal malformations were observed on day 18 of gestation. The order of teratogenic potency was: alpha-ligand > beta-ligand > gamma-ligand. In addition, these retinoids also produced a different spectrum of defects. The alpha-ligand induced the most varied defects including severe ear, mandible, and limb malformations. The beta-ligand induced defects of the urinary system and liver in greater frequency than expected from its relative potency. The gamma-ligand preferentially induced ossification deficiencies and defects of the sternebrae and vertebral body. Our results show that these three retinoids, which were previously demonstrated to exhibit retinoid-like activities in several systems, exert differing teratogenic activities, in regard to both potency and regioselectivity: we hypothesize that the relative selectivity for binding and transactivation of the three retinoic acid receptors could possibly be related to the differences of teratogenic effects observed in this study. The low potency of the gamma-ligand may lead the way to interesting new retinoids with improved therapeutic ratio.

Abnormalities, Drug-Induced↗
PubMed1999

Maternal risk factors and major associated defects in infants with Down syndrome.

More than 50% of infants with Down syndrome have associated defects that cause considerable morbidity and mortality. We evaluated the hypothesis that the trisomic genome interacts with environmental factors to increase the risk for specific associated defects. We evaluated risk factors present during early pregnancy in a multiracial population of 687 infants with Down syndrome. Mother's cigarette smoking was associated with the grouped cardiac defects [odds ratio (OR)=2.0; 95% confidence interval (CI) = 1.2-3.2]. When adjusted for other cardiac defects and maternal race, the following specific defects were associated with smoking: atrioventricular canal (OR = 2.3; 95% CI = 1.2-4.5), tetralogy of Fallot (OR = 4.6; 95% CI = 1.2-17.0), and atrial septal defects without ventricular septal defect (OR = 2.2; 95% CI = 1.1-4.3). Hirschsprung disease was associated with mother's daily consumption of more than three cups of coffee (OR = 6.02; 95% CI = 1.2-29.7) and with mother's fever (OR = 3.4; 95% CI = 0.7-16.4), but the number of cases was small. Use of alcohol was not associated with any defect. Mother's race, age, parity, income, or education did not confound the associations. Results suggest that environmental factors can modify the occurrence of associated anomalies in the embryo with Down syndrome.

Abnormalities, Multiple↗
PubMed2006

Urogenital anomalies associated with anorectal malformations in children.

The urogenital tract is the most severe and common site of associated defects in anorectal malformations (ARM). Urogenital anomalies and their complications significantly increase the morbidity in these children after the ARM is corrected. The purpose of this study was to estimate the incidence of different types of urogenital anomalies with various types of anorectal malformations and to discuss the possible management and outcome. A retrospective study of patients with ARM and associated urogenital abnormalities admitted in the department of paediatric surgery of Sylhet MAG Osmani Medical College Hospital between 1998 and 2002 was undertaken. A total of 155 patients with Anorectal malformations were admitted of which 47 (30.32%) patients had associated anomalies involving other systems. Urogenital abnormalities were found in 25 (16.13%) patients. Patients of Anorectal malformations with urogenital abnormalities require careful assessment and well-timed intervention to minimize the morbidity.

Anal Canal↗
PubMed1989

[Extracardiac malformations in tetralogy of Fallot].

The purpose of our study was to determine the incidence and type of malformations associated with tetralogy of Fallot (TF). Among 133 patients followed up for 12 years, 30 who had either complete TF (n = 26) or pulmonary atresia and interventricular septal defect (n = 4) presented with another, extracardiac malformation. These malformations were part of a malformative syndrome in 21/30 patients, including 4 trisomies 21, 6 embryofoetopathies unquestionably (antiepileptics n = 2, alcohol n = 1) or possibly (hormonal treatment n = 1) of environmental origin, 6 branchial arch pathologies and 5 miscellaneous syndromes. The extracardiac malformation was isolated in the remaining 9 patients, including 5 cases of skeletal anomaly and one case each of omphalocele and microcephaly. Altogether, in these 30 patients skeletal and neurosensory anomalies were largely predominant. Skeletal anomalies involved the vertebral column in 8 cases (cervical 3, thoracic 4, lumbar 1) and the limbs in 5 cases (2 of which were phocomelias). The 4 patients with pulmonary atresia and interventricular septal defect also presented with an early embryopathy: Shprinzen's velocardiofacial syndrome (n = 2), DiGeorge syndrome (n = 1) and situs inversus (n = 1). We compared TF with other congenital heart diseases in our population and found that the incidence of associated malformations was about average. The various associations are discussed. In genetic syndromes, trisomy 21 predominates and TF is less frequent than atrioventricular canal. In syndromes of environmental origin, the role of antiepileptic drugs (chiefly phenytoin and trimethadione) is well-known, alcohol is less often responsible and the TF-phocomelia association is suggestive of progesterone. In branchial arch syndromes, TF is the usual cardiopathy.(ABSTRACT TRUNCATED AT 250 WORDS)

Abnormalities, Drug-Induced↗
PubMed1989

Presentation and outcome of 25 cases of Fanconi's anemia.

Twenty-five children with Fanconi's anemia (FA) who attended the Paediatric Haematology Clinic of Red Cross Children's Hospital over the past 20 years were retrospectively reviewed. There was a female predominance with 17 girls and 8 boys in the group. The clinical features and laboratory data are enumerated. An unusually high prevalence of gastrointestinal anomalies (20%) was found. Seventeen children received an adequate trial of androgen therapy and in 12 the initial hemoglobin concentration increased by more than 2 g/dl or return to normal. Most patients subsequently required intermittent courses of androgens but three were able to stop treatment and maintain a normal hemoglobin concentration for from 3.5 to 20 years. Ten patients remain alive, of whom five had less severe hematological problems and did not require any treatment. The mean period of follow-up of the survivors is 8.7 years. Thirteen patients have died, with a mean time of 5.5 years from diagnosis to death. Of the deaths, two were due to malignant disease and one resulted from cerebral hemorrhage. The other 10 children died of confirmed or suspected infections. Treatment options of FA are discussed.

Abnormalities, Multiple↗
PubMed1990

[The fetus with a digestive, pulmonary or urinary tract malformation diagnosed by ultrasonography. Management].

Ultrasound diagnosis of a fetal visceral malformation raises many questions concerning both medical and ethical aspects. Are there associated malformations or chromosomal anomalies? Is the malformation compatible with life. What will be the quality of survival after birth? Is there efficient surgical treatment? Is it possible to maintain the pregnancy until term or must we consider a premature delivery or an interruption of pregnancy? The decisions are difficult and they necessitate co-operation between the different specialists involved with the antenatal and immediate postnatal care of the fetus. In this paper the authors analyse the various situations that may be encountered depending upon the type of digestive, pulmonary or urinary tract fetal abnormality (cardiac or cerebral malformations have been excluded).

Abortion, Therapeutic↗
PubMed1996

Bowel abnormalities in the fetus--correlation of prenatal ultrasonographic findings with outcome.

OBJECTIVE: Our purpose was to correlate ultrasonographic findings with postnatal outcome in cases of fetal bowel pathologic disorders detected by either prenatal evaluation or diagnosed in the neonatal period. STUDY DESIGN: A total of 16,471 consecutive fetuses were scanned in the midtrimester or later. Fetuses were included in the study group if the prenatal ultrasonographic evaluation suggested gastrointestinal pathologic features or if gastrointestinal pathologic features were identified by postnatal evaluation. Prenatal ultrasonographic findings and postnatal outcome were collected by chart review. Prenatal ultrasonographic findings were compared with outcome. Results were compared by Fisher's exact test. Sensitivity and positive predictive values were determined. RESULTS: Of the 16,471 fetuses scanned, 15,090 (91.6%) had complete postnatal follow-up. Eighty-nine fetuses had a bowel lesion suspected by prenatal ultrasonography. Twenty-two had dilated bowel distal to the duodenum, 33 had isolated hyperechoic bowel, 20 had ascites, and 14 had a cystic abdominal mass. Twenty-two fetuses (22/89 or 25%) were found at neonatal evaluation to have a gastrointestinal lesion. In those fetuses with small-bowel lesions, the sensitivity of ultrasonography was 100% and the positive predictive value was 72.7%. For large-bowel lesions the sensitivity of ultrasonography was only 7.7%, and the positive predictive value was 18%. No ultrasonographic parameter could unequivocally differentiate between the normal and abnormal outcome groups, but progressive bowel dilatation in the third trimester and hyperperistalsis with a dilated bowel loop were frequently found in the cases of small bowel obstruction. Four of the cases of dilated bowel (18.2%) were related to cystic fibrosis. CONCLUSION: Bowel abnormalities in the fetus are manifest in diverse ultrasonographic findings, making accurate prediction of lesions difficult. The sensitivity of prenatal ultrasonography to detect large-bowel lesions was poor, although it was 100% sensitive in the detection of small-bowel lesions. Cystic fibrosis should be considered in all fetuses with bowel abnormalities suspected on prenatal ultrasonography.

Ascites↗
PubMed2004

MRI of fetal GI tract abnormalities.

We describe the magnetic resonance (MR) patterns of a variety of fetal gastrointestinal (GI) abnormalities. Thirty-two fetuses between 23 and 38 weeks' gestation with abnormal appearance of the GI tract by ultrasound underwent MR imaging with T1- and T2-weighted sequences. The MR aspect of intestinal atresia (duodenal atresia, one case; small bowel atresia, nine cases) included dilatation of the bowel loops, accurate assessment of the normal bowel distal to the atresia (except in the patient with multiple atresia and apple-peel syndrome), and micro-rectum with decreased T1 signal (except in the patient with duodenal atresia). Megacystis-microcolon-intestinal hypoperistalsis syndrome (one case) was indicated by an abnormal signal of the entire bowel and an abnormal pattern for the urinary tract. Meconium pseudocysts (two cases) were easily differentiated from enteric cysts (two cases). High anorectal malformations with (two cases) or without (one case) urinary fistula and cloacal malformation (one case) are described and MR findings are discussed. The capability of MR imaging to demonstrate the normal bowel with intraperitoneal anomalies (e.g., congenital diaphragmatic hernia, and sacrococcygeal teratoma) is emphasized. MR imaging is informative in the diagnosis of GI tract abnormalities, especially the severe malformations, with much more accuracy than sonography.

Digestive System Abnormalities↗