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Ultrasound Abnormalities (ultrasound + abnormality)
Selected AbstractsPerinatal infection is an important risk factor for cerebral palsy in very-low-birthweight infantsDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 6 2000Mary Wheater MAPhD FRCPCH Consultant Paediatrician Sixty-nine very-low-birthweight infants out of a population of 923 had cerebral palsy (CP) at an 18-month follow-up. Thirty-nine of these had cranial ultrasound abnormalities in the neonatal period and 30 had normal cranial ultrasounds. The distribution of subtypes of CP differed markedly between the two groups, with hemiplegia predominating in those with abnormal cranial ultrasounds and diplegia in those with normal cranial ultrasounds. Regardless of ultrasound appearance, the relative risk of CP increased approximately fourfold with a neonatal history of sepsis. [source] Predictors of neurodevelopmental outcome of Malaysian very low birthweight children at 4 years of ageJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 4 2001LC Ong Objective: To determine neonatal, early developmental and social risk factors that predict the neurocognitive and behavioural outcome of very low birthweight (VLBW) preschool children at four years of age. Methodology: From a cohort of 151 eligible VLBW survivors born in Kuala Lumpur Maternity Hospital, 116 (76.8%) were prospectively followed up from birth till four years. A standardised neurological examination was performed at one and four years to determine the presence of impairment and cerebral palsy, respectively. Cognitive development was assessed using the Mental Scale of the Bayley Scales of Infant Development (MDI) at one year and the Weschler Preschool and Primary Scale of Intelligence-Revised (WIPPSI-R) at four years. Motor coordination was assessed using the Movement Assessment Battery for Children (Movement-ABC). Mothers completed the Child Behaviour Checklist (CBCL) and Parenting Stress Index (PSI) questionnaires. Logistic and multiple regression analyses were used to determine factors associated with cerebral palsy, IQ scores, Movement-ABC and CBCL scores. Results: Factors associated with cerebral palsy were lower MDI scores at one year (P = 0.001) and late neonatal cranial ultrasound abnormalities (P = 0.036). Minor (P = 0.016) or major impairment (P = 0.003) at one year of age and a low level of paternal education (P = 0.01) were associated with poor motor function on the Movement-ABC scale. Lower levels of maternal education (P < 0.001), impairment at one year (P = 0.002) and late neonatal cranial ultrasound abnormalities (P = 0.039) predicted Full Scale IQ scores. Higher PSI scores (P = 0.001), younger mothers (P = 0.003) and late neonatal cranial ultrasound abnormalities (P = 0.009) were associated with worsened child behaviour scores on the CBCL scale. Conclusion: Social factors and the caregiving environment were important determinants of cognitive and behavioural outcome. Cranial ultrasound abnormalities in the late neonatal period and the developmental status at one year might be useful in identifying high risk infants in need of long-term surveillance. [source] Early treatment with l -thyroxine in children and adolescents with type 1 diabetes, positive thyroid antibodies, and thyroid gland enlargementPEDIATRIC DIABETES, Issue 4 2007Olga Kordonouri Aim:, To investigate whether early treatment with l -thyroxine may prevent deterioration of thyromegaly and progression to subclinical or clinical hypothyroidism in pediatric patients with type 1 diabetes, positive thyroid antibodies, and ultrasound abnormalities of the thyroid gland. Methods:, The development of thyroid gland volume and function in patients without l -thyroxine treatment (group A, n = 8) was assessed and compared with that in patients receiving l -thyroxine treatment (group B, n = 7) with median follow-up time of 2.0 yr (range 0.6,3.0 yr). Standard deviation score (SDS) of thyroid gland volume was calculated according to gender- and age-corresponding data. Results:, Median thyroid gland volume SDS at study entry was 4.8 (range 2.0-15.3) in group A and 5.6 (3.6,13.9) in group B. At follow-up, median thyroid volume SDS has increased by 0.8 (,3.9 to 6.0) at 1 yr and by 2.0 (,4.5 to 10.9) at 2 yr in group A but decreased significantly by ,3.4 (,10.0 to 0.4) and ,5.3 (,12.3 to ,1.7) in group B, respectively. The change of thyroid gland volume was significantly different between the two groups (p = .043 and .032, respectively). In group A, three of eight patients without therapy developed subclinical hypothyroidism with thyroid-stimulating hormone elevation. Conclusion:, These data demonstrate that treatment with l -thyroxine in patients with diabetes, positive thyroid antibodies, and elevated gland volume leads to a significant reduction of thyromegaly. Prospective randomized clinical trials are required to prove these preliminary findings. [source] (Potential) false-negative diagnoses in chorionic villi and a review of the literaturePRENATAL DIAGNOSIS, Issue 5 2006Cardi van den Berg Abstract Objectives To assess the incidence of (potential) false-negative findings of cytogenetic diagnosis in STC-villi and/or LTC-villi and to determine the best strategy for karyotyping chorionic villi in order to avoid false-negative results. Methods 2476 chorionic villus samples were received for prenatal cytogenetic investigations. Karyotyping was routinely performed on STC- and LTC-villi preparations by G-banding. Fluorescence in situ hybridization (FISH) analyses were performed in addition to standard chromosome analysis when necessary. Sometimes follow-up investigations like amniocentesis were performed before a definite prenatal cytogenetic result could be reported. Results In 2389/2476 (96.5%) of the cases, both STC- and LTC-villi were investigated. Normal STC- with abnormal LTC-villi results and finally an abnormal fetal karyotype were detected in ten cases (10/2389; 0.42%); in 9/10 of the cases the indication was fetal ultrasound abnormalities. Normal STC- and LTC-villi and finally an abnormal fetal karyotype were detected in two cases (2/2389; 0.08%). Conclusion The most reliable technique for prenatal diagnosis after chorionic villus sampling (CVS) is the combination of the analysis of both STC- and LTC-villi to reduce the incidence of false-negative findings to a minimum. In the case of fetal ultrasound abnormalities with a small amount of villi available, the investigation of LTC-villi is recommended over that of STC-villi. Copyright © 2006 John Wiley & Sons, Ltd. [source] Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocentesesPRENATAL DIAGNOSIS, Issue 10 2004Wing Cheong Leung Abstract Background Reliable methods are available for rapid aneuploidy detection (RAD) for the prenatal diagnosis of trisomies 21, 18 and 13. This study examines the potential advantages and limitations of using RAD as a replacement rather than as an adjunct to traditional karyotyping. Methods One thousand five hundred and eighty-nine consecutive pregnancies referred for cytogenetic assessment were offered RAD (FISH or QF-PCR) as an adjunct to traditional karyotyping. The results of these two processes were compared, and the effects of three policies for cytogenetic evaluation were determined: RAD alone, a combination of RAD for all and traditional karyotyping for cases with ultrasound anomalies or a policy of RAD and traditional karyotyping in all cases. Results RAD was uninformative because of maternal-cell contamination in 37 (2.3%) cases compared to 4 (0.3%) cases of culture failure in traditional karyotyping. RAD and traditional karyotyping results were concordant in 1526 of 1548 (98.6%) cases. All non-mosaic cases of trisomies 21, 18 and 13 and cases of triploidy were correctly identified by RAD, and there were no false-positive diagnoses. The gold standard of a traditional karyotype in each case would have detected all chromosomal abnormalities. A policy of RAD alone would have identified 60 of 73 (82%) clinically important chromosomal abnormalities. The addition of a full karyotype for cases with evidence of ultrasound abnormalities would have improved detection to 95%. Conclusion A policy offering RAD to all patients, but restricting traditional karyotyping to cases with ultrasound anomalies, would reduce the number of traditional karyotypes requested by 70%, but maintain a 95% detection rate for all clinically important chromosomal abnormalities. Further studies are required to determine whether similar results could be obtained in district general hospital units and to determine whether this approach would be acceptable to health professionals and patients. Copyright © 2004 John Wiley & Sons, Ltd. [source] Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosisPRENATAL DIAGNOSIS, Issue 4 2004Carole Goumy Abstract Objectives Early diagnosis of unbalanced chromosomal abnormalities can be crucial in minimizing the trauma caused by an elective abortion. Chorionic villus sampling (CVS) can be performed from 9 weeks of gestation. However, two major problems are encountered in fetal karyotyping using cultured cells from chorionic villi: the relatively slow growth of these cells in culture, which delays the diagnosis, and the occurrence of maternal cell contamination (MCC). With FISH, a result can be obtained within 24 h, and, as no cell culturing is involved, the problem of MCC is minimized. Methods Thirty-two women undergoing CVS between 9 and 12 weeks of gestation were offered FISH analysis in addition to the standard chromosome analysis. Results FISH was informative in all of the cases tested. Eleven aneuploidies were detected in cases of hygroma or abnormal nuchal translucency and two out of four fetuses from parental translocation were unbalanced. The decision to perform early termination of these chromosomally abnormal pregnancies was based on FISH results and ultrasound abnormalities, without waiting for karyotype results. Conclusion The present study confirms that the association of FISH and CVS allows a rapid and early prenatal diagnosis, and emphasizes that this association is of great benefit in cases of known parental balanced translocation or when hygroma is detected by ultrasonography. Copyright © 2004 John Wiley & Sons, Ltd. [source] Prenatal detection of complex chromosomal aberrations using advanced molecular cytogenetic techniquesPRENATAL DIAGNOSIS, Issue 9 2003J. M. de Pater Abstract Objective This study aimed to identify a marker chromosome and characterize the short arm of a derivative chromosome 5 in a foetus with the following karyotype: mos 47,XX,del(5)(p?),+i(5)(p10)[50]/48,XX,del(5)(p?),+i(5)(p10),+mar[25]. Method Amniocentesis was performed in the 26th week of pregnancy because of ultrasound abnormalities (polyhydramnion and decreased amount of gastric filling). All classic banding techniques were performed. FISH and microdissection combined with reverse painting were used to reveal the exact origin of the marker and any extra material on the deleted chromosome 5p. The parents decided to continue the pregnancy and we compared the clinical features of the child born in week 34 with data from the literature on trisomy 5p. The possible contribution of trisomy of the centromeric region of chromosome 8 and trisomy 8p23.3,8pter to this clinical picture was evaluated. Results GTG banding showed one normal and two aberrant chromosomes 5 [del(5)(p?) and i(5)(p10)] in all the cells examined. Furthermore, a supernumerary marker chromosome was present in approximately 30% of the cells. The marker was CBG positive and positive with the pancentromere probe, but dystamicinA/DAPI negative. It did not contain NOR-positive satellites. FISH proved this marker to be derived from the centromeric region of chromosome 8. MicroFISH disclosed the aberrant chromosome 5 as der(5)t(5;8)(p10;p23.3). The parent's karyotypes were normal. The baby showed the characteristic features of trisomy 5p syndrome. She died at the age of 15 days after cardiorespiratory arrest. Conclusion The karyotype was interpreted as mos 47,XX,add(5)(p10).rev ish der(5)t(5;8)(p10;p23.3),+i(5)(p10) (WCP5+,D5S23+)[50]/48,XX,add(5)(p10).rev ish der(5)t(5;8)(p10;p23.3),+i(5)(p10)(WCP5+,D5S23+),+mar.ish 8(p10q10)(D8Z2+,WCP8-)[25]. Therefore, the baby had complete trisomy 5p, with trisomy of the distal part of 8p and of the centromeric region of chromosome 8. The clinical significance of de novo marker chromosomes is a major problem in prenatal counselling. Molecular cytogenetic tools such as FISH and microFISH are indispensable for characterizing markers and determining the breakpoints more precisely in deleted chromosomes. Copyright © 2003 John Wiley & Sons, Ltd. [source] The prognostic value of ultrasound abnormalities and biological parameters in blood of fetuses infected with cytomegalovirusBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 7 2008G Benoist Objective, To evaluate the prognostic value of ultrasound abnormalities and of selected biological parameters in blood of fetuses infected with cytomegalovirus (CMV). Design, Retrospective observational study. Setting, Two fetal medicine units in Paris, France. Population, All fetuses infected with CMV referred between 1998 and 2006. Methods, We retrospectively analysed data collected prospectively in 73 fetuses infected by CMV with a positive CMV polymerase chain reaction in amniotic fluid. Fetal blood sampling (FBS) was performed for evaluation of platelet count, plasma levels of aminotransferases and gamma-glutamyl transpeptidases (GGT), presence of viraemia and specific fetal immunoglobulin M. Targeted ultrasound examination was performed every fortnight. Ultrasound findings were categorised into normal examination and any ultrasound abnormality, which was further grouped as ultrasound abnormality of the fetal brain and noncerebral ultrasound abnormality. Main outcome measures, A combination of histological findings after termination of pregnancy and evidence of cytomegalic inclusion disease at birth when pregnancies were continued. Clinical symptoms at birth or histological lesions attributable to CMV were considered as poor outcome. Statistical analysis was conducted to determine the value of each parameter to predict outcome. Logistic regression was used to build up a multivariate model combining the relevant parameters. Results, In univariate analysis, only thrombocytopenia and the presence of any ultrasound abnormality were associated with a poor outcome (P < 10,4 for both abnormalities). In the multivariate analysis, both thrombocytopenia and the presence of ultrasound abnormalities remained significant independent predictors of a poor outcome. Based on univariate logistic regression, odds ratio for a poor outcome were 1.24, 7.2, 22.5 and 25.5 for each 10 000/mm3 decrease in platelet count, the presence of noncerebral, any ultrasound and cerebral ultrasound abnormalities, respectively. Conclusions, The prognosis of CMV-infected fetuses relies independently on both targeted ultrasound examination and fetal platelet count. FBS for platelet count may therefore justify FBS in infected fetuses even in the absence of ultrasound. features of brain involvement. [source] Ovarian carcinoma screening in women at intermediate riskCANCER, Issue 2 2005Impact on quality of life, need for invasive follow-up Abstract BACKGROUND Women with family histories suggestive of an increased risk of ovarian carcinoma who have not had a deleterious BRCA1 or BRCA2 mutation identified are commonly suggested to consider ovarian carcinoma screening with transvaginal ultrasound and/or assessment of CA 125 levels. Limited information is available regarding the impact of this approach on either quality of life (QOL) or need for invasive follow-up in this group of women. METHODS From November 1999 to October 2002, 184 women at intermediate risk of ovarian carcinoma were enrolled in a prospective study. Participants were screened with twice yearly transvaginal ultrasound and CA 125 assessments. Impact on QOL was measured using the Mental Component Summary (MCS) score of the Medical Outcomes Studies Short Form-36. Need for invasive follow-up was determined by questionnaire and medical record review. RESULTS In the current study, 135 participants underwent , 1 follow-up assessment. During a mean of 19.8 months of follow-up, 12.9% of ultrasounds and 3.8% of CA 125 assessments were abnormal. The authors reported that 38.5% of participants had , 1 abnormal ovarian screen that required a short interval follow-up. Because of either abnormal bleeding or ultrasound abnormalities, 24% of participants underwent , 1 endometrial sampling. Controlling for a history of breast carcinoma and menopausal status, abnormal ovarian screening results were associated with a decrease in MCS score (P = 0.034), whereas the need for endometrial sampling was not (P = 0.87). CONCLUSIONS Ovarian carcinoma screening in women at intermediate risk was associated with a substantial rate of abnormal screen results, endometrial sampling, and in women with abnormal ovarian screening findings, a decrease in MCS scores. These findings may have important implications for women considering ovarian carcinoma screening and for the design of future ovarian carcinoma screening trials. Cancer 2005. © 2005 American Cancer Society. [source] Cytokine levels in neonatal necrotizing enterocolitis and long-term growth and neurodevelopmentACTA PAEDIATRICA, Issue 3 2010A Lodha Abstract Objective:, To investigate if circulating cytokines are related to growth and neurodevelopmental outcome following necrotizing enterocolitis (NEC). Study design:, Pro-inflammatory cytokine levels were measured prospectively in 40 neonates and compared with neurodevelopmental outcome. Cytokine levels were measured at the onset of feeding intolerance (Group II, n = 17) or NEC (Group III, n = 10) and at weeks 2,3 in control infants (Group I, n = 13). Neurodevelopmental outcome was assessed at the age of 24,28 months. Data were analysed using descriptive statistics, non-parametric tests and Student t -test. Results:, Median birth weights (range) in groups I, II and III were 1120 (525,1564) g, 1068 (650,1937) g and 1145 (670,2833) g, and median gestational ages (range) were 28 (24,35) weeks 28 (24,35) weeks and 28 (25,37) weeks respectively. NEC occurred in 10 infants. Serum IL-6 (interleukin-6) was elevated in group III, (p = 0.03). Significant developmental delay was found in 12% of the infants in Group II and 20% of the infants in Group III, but no infant in group I. Five infants in group III with NEC (50%), had head ultrasound abnormalities. At 1 year of age, growth, weight and head circumference were significantly different in Group III, however, at two years of age, only height was significantly different, p < 0.02. Although there was wide variation, neonatal cytokine levels tended to be greater in the infants later found to have abnormal cognitive and psychomotor outcomes. Conclusion:, This study suggests that increased serum levels of pro-inflammatory cytokines may play a role in the poor growth and neurodevelopment associated with this high-risk population. [source] The prognostic value of ultrasound abnormalities and biological parameters in blood of fetuses infected with cytomegalovirusBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 7 2008G Benoist Objective, To evaluate the prognostic value of ultrasound abnormalities and of selected biological parameters in blood of fetuses infected with cytomegalovirus (CMV). Design, Retrospective observational study. Setting, Two fetal medicine units in Paris, France. Population, All fetuses infected with CMV referred between 1998 and 2006. Methods, We retrospectively analysed data collected prospectively in 73 fetuses infected by CMV with a positive CMV polymerase chain reaction in amniotic fluid. Fetal blood sampling (FBS) was performed for evaluation of platelet count, plasma levels of aminotransferases and gamma-glutamyl transpeptidases (GGT), presence of viraemia and specific fetal immunoglobulin M. Targeted ultrasound examination was performed every fortnight. Ultrasound findings were categorised into normal examination and any ultrasound abnormality, which was further grouped as ultrasound abnormality of the fetal brain and noncerebral ultrasound abnormality. Main outcome measures, A combination of histological findings after termination of pregnancy and evidence of cytomegalic inclusion disease at birth when pregnancies were continued. Clinical symptoms at birth or histological lesions attributable to CMV were considered as poor outcome. Statistical analysis was conducted to determine the value of each parameter to predict outcome. Logistic regression was used to build up a multivariate model combining the relevant parameters. Results, In univariate analysis, only thrombocytopenia and the presence of any ultrasound abnormality were associated with a poor outcome (P < 10,4 for both abnormalities). In the multivariate analysis, both thrombocytopenia and the presence of ultrasound abnormalities remained significant independent predictors of a poor outcome. Based on univariate logistic regression, odds ratio for a poor outcome were 1.24, 7.2, 22.5 and 25.5 for each 10 000/mm3 decrease in platelet count, the presence of noncerebral, any ultrasound and cerebral ultrasound abnormalities, respectively. Conclusions, The prognosis of CMV-infected fetuses relies independently on both targeted ultrasound examination and fetal platelet count. FBS for platelet count may therefore justify FBS in infected fetuses even in the absence of ultrasound. features of brain involvement. [source] |