Prenatal ultrasound diagnosis and management of body stalk anomaly: analysis of nine singleton and two multiple pregnancies.
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OBJECTIVE: To determine prenatal ultrasonographic features and management of fetuses with body stalk syndrome in singleton and multiple gestations. METHODS: In a retrospective chart analysis we reviewed all cases with body stalk anomaly diagnosed in our prenatal unit between 1994 and 2001. During this time period we adopted a uniform approach to the investigation of cases of body stalk anomaly, including amniocentesis or chorionic villus sampling (CVS) for fetal karyotyping. A general schematic sonographic examination was performed to search for fetal abnormalities and was followed by detailed two-dimensional and color-coded Doppler echocardiography. Nuchal translucency (NT) measurements were performed before 14 weeks of gestation. Postmortem examinations of fetuses were performed following termination by induction with prostaglandin. RESULTS: Eleven fetuses with body stalk anomaly were diagnosed, including two multiple pregnancies complicated by discordant body stalk anomaly. The typical ultrasonographic features were a major abdominal wall defect, severe kyphoscoliosis, limb abnormalities, neural tube defects, and a malformed, short umbilical cord with a single artery. None of the fetuses demonstrated craniofacial defects. All placentae that were examined showed evidence of persistence of the extra-embryonic celomic cavity. NT measurements were abnormal in all cases. Fetal karyotyping was normal in ten cases. In one case CVS showed a mosaic trisomy 2 (46,XX/47,XX,+ 2). Selective fetocide was performed in one trichorionic-triamniotic triplet pregnancy in early gestation, which was followed by normal development of the remaining healthy dichorionic-diamniotic twins. In a monochorionic-diamniotic twin pregnancy with one affected fetus ultrasound surveillance showed the normal development of the unaffected twin. CONCLUSIONS: We present a large series of body stalk anomaly, including multiple gestations, with thoraco- and/or abdominoplacental attachment and without craniofacial defects. This specific phenotype may be explained by embryonic maldevelopment. The typical features of body stalk anomaly can be detected by ultrasound by the end of the first trimester, which is important for patient management. Consequently, this anomaly should be distinguished from other fetal abdominal wall defects. (+info)
Abdominal wall defects and congenital heart disease.
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OBJECTIVES: To determine the incidence of cardiac disease associated with abdominal wall defects of fetuses and associated parameters including maternal age, sex, gestational age at delivery, outcome, karyotypes, Apgar scores and associated congenital anomalies. METHODS: This was a retrospective study of fetuses with a prenatal diagnosis of gastroschisis or omphalocele. The Maternal-Fetal Medicine Fetal Therapy (MFM) database was reviewed for all fetuses with abdominal wall defects identified prenatally. All available MFM records, fetal echocardiograms, neonatal echocardiograms and neonatal charts were reviewed for the types of abdominal wall defects and associated cardiac disease identified by ultrasound. Other parameters reviewed included: maternal age, sex, gestational age at delivery, outcome, karyotypes (when available), Apgar scores and associated congenital abnormalities. RESULTS: Forty-eight fetuses with an abdominal wall defect and cardiac disease findings were identified. Of these fetuses 26 had gastroschisis and 22 had omphalocele. The mean maternal age was 24.0 +/- 5.40 years in the gastroschisis and 29.2 +/- 7.23 years in the omphalocele group (P < 0.01). Differences in mean gestational age at delivery, mean birth weight and median Apgar scores at 1 and 5 min were not statistically significant. Abnormal cardiac findings were seen in 4/26 (15%) cases of gastroschisis and included one case of peripheral pulmonary stenosis, two cases of supraventricular tachycardia and one case of persistent pulmonary hypertension (PPHN) of the newborn. Abnormal cardiac findings were seen in 10/22 (45%) cases of omphalocele and included one muscular ventricular septal defect, two atrial septal defects of the secundum variety, one ectopia cordis, one coarctation of the aorta, one dysplasia of the tricuspid valve, one large pericardial effusion and four cases of PPHN. CONCLUSIONS: Fetuses with omphalocele appear to have an increased risk not only of congenital heart disease (CHD) but also of perinatal cardiac abnormalities, especially PPHN. A prenatal maternal hyperoxia test may be of predictive value in determining which patients may develop PPHN. The fact that both CHD and PPHN are increased in fetuses with abdominal wall defects may be of value in counseling parents prenatally, and stresses the importance of performing echocardiography both prenatally and postnatally in these cases. (+info)
Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe.
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OBJECTIVES: Ultrasound scan in the mid-trimester of pregnancy is now a routine part of prenatal care in most European countries. The objective of this study was to evaluate the prenatal diagnosis of dysmorphic syndromes by fetal ultrasound examination. METHODS: Data from 20 registries of congenital malformations in 12 European countries were included in the study. RESULTS: There were 2454 cases with congenital heart diseases, 479 of which were recognized syndromes, including 375 chromosomal anomalies and 104 syndromes without chromosomal anomalies. Fifty-one of the 104 were detected prenatally (49.0%). One hundred and ninety-two of 1130 cases with renal anomalies were recognized syndromes, including 128 chromosomal anomalies and 64 syndromes without chromosomal anomalies; 162 of them (84.4%) were diagnosed prenatally, including 109 chromosomal anomalies and 53 non-chromosomal syndromes. Fifty-four of the 250 cases with limb defects were recognized syndromes, including 16 chromosomal syndromes and 38 syndromes without chromosomal anomalies; 21 of these 54 syndromes were diagnosed prenatally (38.9%), including 9 chromosomal syndromes. There were 243 cases of abdominal wall defects including 57 recognizable syndromes, 48 with omphalocele and 9 with gastroschisis; 48 were diagnosed prenatally (84.2%). Twenty-six of the 187 cases with diaphragmatic hernia had recognized syndromes, including 20 chromosomal aberrations and 6 syndromes without chromosomal anomalies. Twenty-two of them (84.6%) were detected prenatally. Sixty-four of 349 cases with intestinal anomalies were recognized syndromes; 24 were diagnosed prenatally (37.5%). There were 553 cases of cleft lip and palate (CL(P)) and 198 of cleft palate (CP) including 74 chromosomal anomalies and 73 recognized non-chromosomal syndromes. Prenatal diagnosis was made in 51 cases of CL(P) (53.7%) and 7 of CP (13.7%). Twenty-two of 188 anencephalic cases were syndromic and all were diagnosed prenatally. Of 290 cases with spina bifida, 18 were recognized syndromes, and of them 17 were diagnosed prenatally. All 11 syndromic encephaloceles were diagnosed prenatally. CONCLUSIONS: Around 50% of the recognized syndromes which are associated with major congenital anomalies (cardiac, renal, intestinal, limb defects, abdominal wall defects and oral clefts) can be detected prenatally by the anomaly scan. However the detection rate varies with the type of syndrome and with the different countries' policies of prenatal screening. (+info)
GABAA and glycine receptors in regulation of intercostal and abdominal expiratory activity in vitro in neonatal rat.
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The roles played by GABAA and glycine receptors in inspiratory-expiratory motor co-ordination and in tonic inhibitory regulation of expiratory motor activity were studied using brainstem-spinal cord (-rib) preparations from neonatal rats. Inspiratory activity was recorded from the C4 ventral root. Expiratory activity in internal intercostal muscle, internal oblique muscle or T13 ventral root was evoked by a decrease in perfusate pH from 7.4 to 7.1 (i.e. from normal to low pH conditions) and was limited to the first part of the expiratory phase. Under low pH conditions, bath application of 10 microM bicuculline, a GABAA receptor antagonist, caused the inspiratory burst to overlap the expiratory burst in 2/7 preparations. Overlapping of the expiratory burst with the inspiratory burst was observed in 7/7 preparations made under 10 microM bicuculline. Furthermore, such preparations exhibited expiratory bursts under bicuculline-containing normal pH conditions. Local application of 10 microM bicuculline to the brainstem under normal pH conditions evoked expiratory bursts, some of which overlapped the inspiratory bursts. Picrotoxin, another antagonist of the GABAA receptor, had similar effects. Under normal pH conditions, application of strychnine (0.2- 2.0 microM; a glycine receptor antagonist) to the brainstem did not evoke expiratory bursts. On subsequent application of strychnine-containing low pH solution, expiratory bursts were evoked and some (0.5 microM) or all (2.0 microM) of these overlapped the inspiratory burst. Simultaneous application of picrotoxin and strychnine to the brainstem evoked expiratory bursts that overlapped the inspiratory bursts and a subsequent decrease in perfusate pH to 7.1 increased the frequency of the respiratory rhythm. It was a characteristic finding that the duration of the expiratory burst exceeded that of the inspiratory burst under control low pH conditions. This remained true during concurrent blockade of GABAA and glycine receptors. The results suggest that in the in vitro preparation from neonatal rats: (1) GABAA and glycine receptors within the brainstem play important roles in the co-ordination between inspiratory and expiratory motor activity, (2) tonic inhibition via GABAA receptors, but not glycine receptors, plays a role in the regulation of expiratory motor activity and (3) inspiratory and expiratory burst termination is independent of both GABAA and glycine receptors. (+info)
Weight status, abdominal adiposity, diabetes, and early age-related lens opacities.
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BACKGROUND: The association between weight status and the risk of lens opacities has received little attention. OBJECTIVE: We examined the cross-sectional relations of body mass index (BMI; in kg/m(2)), waist circumference, and diabetes with the presence of age-related lens opacities. DESIGN: Eye examinations were conducted in 466 Boston-area women aged 53-73 y who were without previously diagnosed cataracts and were part of the Nurses' Health Study cohort. Weight, height, waist, and hip measurements were obtained by self-report. Lens status was evaluated by using the Lens Opacification Classification System III (LOCS III). BMI and waist circumference were used as measures of overweight and abdominal adiposity, respectively. Nuclear, cortical, and posterior subcapsular (PSC) opacities were defined as LOCS III scores > or = 2.5, > or = 1.0, and > or = 0.5, respectively. Diabetes was defined as a history of type 2 diabetes or as a fasting plasma glucose concentration > or = 7.0 mmol/L. RESULTS: Women with diabetes were significantly more likely to have PSC opacities [odds ratio (OR): 4.1; 95% CI: 1.8, 9.4] than were women with fasting plasma glucose concentrations < 6.1 mmol/L. Women with a BMI > or = 30 had a higher prevalence of PSC opacities than did women with a BMI < 25 (OR: 2.5; 1.2, 5.2), and women with a waist circumference > or = 89 cm had a higher prevalence of PSC opacities than did those with a waist circumference < 80 cm (OR: 2.3; 1.0, 5.2). Diabetes and measures of adiposity were unrelated to the prevalence of cortical and nuclear opacities. CONCLUSIONS: Diabetes is a strong risk factor for PSC opacities, and overweight and abdominal adiposity may be risk factors for PSC opacities. (+info)
Abdominal fascial transplants; physiological and psychological benefits.
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Even when they cannot restore the ability of a paralyzed patient to walk, fascial transplanting operations to stabilize the trunk, to give firmness to the abdominal wall and to improve the posture can be of great benefit. Well designed and well executed operations can greatly improve respiratory, circulatory and eliminatory function. Often the ability to talk or even to sing is restored. Even the ability to cough effectively can sometimes be a boon. The rewards in improved physical health and in morale can make the pain and the expense of operation well worth while to the patient. (+info)
Atrophy of non-locomotor muscle in patients with end-stage renal failure.
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BACKGROUND: All previous histological studies of skeletal muscles of patients with renal failure have used locomotor muscle biopsies. It is thus unclear to what degree the observed abnormalities are due to the uraemic state and how much is due to disuse. The present study was undertaken to attempt to investigate this question by examining a non-locomotor muscle (rectus abdominis) in patients with end-stage renal failure. METHODS: Biopsies from rectus abdominis were obtained from 22 renal failure patients (RFPs) undergoing surgical Tenchkoff catheter implantation for peritoneal dialysis and 20 control subjects undergoing elective abdominal surgery. Histochemical staining of frozen sections and morphometric analysis was used to estimate the proportion of each fibre type, muscle fibre area and capillary density. Myosin heavy chain composition was examined by SDS-PAGE. RESULTS: There were no differences in fibre type distribution between RFPs and controls. All RFPs showed fibre atrophy [mean cross-sectional area (CSA) 3300 +/- 1100 microm2, compared to 4100 +/- 1100 microm2 in controls (P < 0.05)]. All fibre types were smaller in mean CSA in RFPs than in controls (15, 26 and 28% for types I, IIa and IIx, respectively). These differences could not be accounted for by differences in age, gender or cardiovascular or diabetic comorbidity. Muscle fibre capillarization, expressed as capillaries per fibre or capillary contacts per fibre, was significantly less in RFPs. CONCLUSIONS: Since a non-locomotor muscle was examined, the effects of disuse as a cause of atrophy have been minimized. It is likely, therefore, that the decreased muscle fibre CSA and capillary density of RFPs compared to controls were due predominantly to uraemia itself. (+info)
A STUDY OF THE VESICAL GANGLIA IN CHILDREN AND THE RELATIONSHIP TO THE MEGAURETER MEGACYSTIS SYNDROME AND HIRSCHSPRUNG'S DISEASE.
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A method for the assay of vesical ganglion cells is described and the number and distribution of the neurones in three normal bladders was studied. Vesical ganglion counts were done in cases of the megaureter-megacystis syndrome, megaureter, bladder neck obstruction, megacystis associated with absent abdominal muscles, Hirschsprung's disease, and lumbar myelomeningocoele. A normal complement of neurones was found in each case. No evidence was found that the megaureter-megacystis syndrome is due to an agenesis of the peripheral autonomic ganglia similar to that in Hirschsprung's disease. Vesical ganglia were normal in the two cases examined and no clinical association was found between the two conditions in a large series of cases. Moreover, a study of the cell counts suggests that at least some of the reports of such a lesion are based upon an inadequate appreciation of the number and distribution of neurones in the normal urinary tract. (+info)