Major Anomalies (major + anomaly)

Distribution by Scientific Domains


Selected Abstracts


Role of second trimester sonography in detecting trisomy 18: A review of 70 cases

JOURNAL OF CLINICAL ULTRASOUND, Issue 2 2007
Csaba Papp MD
Abstract Purpose. To investigate the role of second-trimester sonographic examination in the prenatal diagnosis of trisomy 18. Methods. Out of 22,150 fetal chromosomal analyses performed between 1990 and 2004, 70 trisomy 18 fetuses were found. The sonographic findings of this aneuploidy were analyzed. Results. The average maternal age was 32.4 years; the average gestational age was 19.5 weeks. Major anomalies were seen in 61 (87.1%) of the 70 fetuses with trisomy 18; among these, cardiac anomalies were the most common (47.1%), with a 27.1% incidence of ventricular septal defects. Anomalies of the central nervous system were seen in 35.7% of cases; abnormal head shape was the most frequently detected anomaly in this group (12.9%). Fifty-six (80%) of the fetuses had at least 1 minor anomaly; of these, choroid plexus cyst was the most common (38.6%). Increased nuchal fold thickness was detected in 17.1% of cases. Conclusion. The vast majority of trisomy 18 fetuses have sonographically detectable abnormalities in the second trimester. Both the 87.1% frequency of major anomalies and the 80% frequency of minor anomalies are substantially higher than multiple biochemical marker tests could achieve. It was also demonstrated that fetal echocardiography plays a pivotal role in the diagnosis of trisomy 18. © 2006 Wiley Periodicals, Inc. J Clin Ultrasound 35:, 2007 [source]


Anomalies in the Oversight of Australian Auditors

AUSTRALIAN ACCOUNTING REVIEW, Issue 2 2010
Graeme L. Wines
This commentary identifies and comments on anomalies in the oversight of Australian auditors and audit firms. Regulatory and professional oversight and inspection of Australian auditors and audit firms arise from a number of sources, highlighting its multi-faceted nature. This makes it impossible to identify a single body with ultimate responsibility for auditor oversight. Three recent Australian reviews commissioned by the Financial Reporting Council, together with an evaluation of the roles of the various regulatory and professional bodies, are used in this commentary as a platform from which to identify a number of significant anomalies in oversight processes. Major anomalies highlighted arise from the overlapping nature of the duties and functions of the various bodies and the variation in oversight across different categories of audit service providers. Policymakers should closely examine the issues raised in the paper if auditor oversight is to be undertaken in an effective and efficient manner. [source]


Role of second trimester sonography in detecting trisomy 18: A review of 70 cases

JOURNAL OF CLINICAL ULTRASOUND, Issue 2 2007
Csaba Papp MD
Abstract Purpose. To investigate the role of second-trimester sonographic examination in the prenatal diagnosis of trisomy 18. Methods. Out of 22,150 fetal chromosomal analyses performed between 1990 and 2004, 70 trisomy 18 fetuses were found. The sonographic findings of this aneuploidy were analyzed. Results. The average maternal age was 32.4 years; the average gestational age was 19.5 weeks. Major anomalies were seen in 61 (87.1%) of the 70 fetuses with trisomy 18; among these, cardiac anomalies were the most common (47.1%), with a 27.1% incidence of ventricular septal defects. Anomalies of the central nervous system were seen in 35.7% of cases; abnormal head shape was the most frequently detected anomaly in this group (12.9%). Fifty-six (80%) of the fetuses had at least 1 minor anomaly; of these, choroid plexus cyst was the most common (38.6%). Increased nuchal fold thickness was detected in 17.1% of cases. Conclusion. The vast majority of trisomy 18 fetuses have sonographically detectable abnormalities in the second trimester. Both the 87.1% frequency of major anomalies and the 80% frequency of minor anomalies are substantially higher than multiple biochemical marker tests could achieve. It was also demonstrated that fetal echocardiography plays a pivotal role in the diagnosis of trisomy 18. © 2006 Wiley Periodicals, Inc. J Clin Ultrasound 35:, 2007 [source]


The association between preeclampsia and placental disruption induced by chorionic villous sampling

PRENATAL DIAGNOSIS, Issue 6 2010
Antonio Farina
Abstract Objectives The objectives of this study were (1) to evaluate if the elevation of maternal serum ,-feto protein (MSAFP) and pregnancy-associated placental protein-A (PAPP-A) in the maternal blood after chorionic villous sampling (CVS) is associated with a higher preeclampsia (PE) rate and (2) to verify the clinical utility of the analytes elevation for predicting PE. Methods A prospective study on 106 subjects who underwent CVS was performed. At the time of CVS, two blood samples were obtained for MSAFP and PAPP-A dosage, the first just before the procedure, and the second one 30 min after the procedure. Cases with abnormal karyotype, major anomalies or preterm delivery were subsequently excluded. The ratio between the two samples was calculated as , (MSAFP or PAPP-A post-CVS/MSAFP or PAPP-A pre-CVS) and it was related to subsequent occurrence of PE. Results The rate of PE was 5.7% (6/106). Both MSAFP and PAPP-A levels were higher after than before CVS (median ratio = 8.33 and 1.08, respectively). Cases developing PE had significantly higher MSAFP ratio (11.6 vs 7.4, p -value = 0.04) and PAPP-A ratio (1.13 vs 1.08, p -value = 0.009) than those who did not develop PE. Receiver operating characteristic curve analysis showed that PAPP-A ratio was a better predictor of subsequent PE than MSAFP ratio: at a fixed false positive rate of 10%, the detection rates for MSAFP and PAPP-A ratios were 33 and 50%, respectively. Conclusion The elevation of MSAFP and PAPP-A observed with CVS is associated with increased risk of subsequent PE. The ability of such increases to predict PE appears to be modest. Copyright © 2010 John Wiley & Sons, Ltd. [source]


Paroxetine and fluoxetine in pregnancy: a prospective, multicentre, controlled, observational study

BRITISH JOURNAL OF CLINICAL PHARMACOLOGY, Issue 5 2008
Orna Diav-Citrin
WHAT IS ALREADY KNOWN ABOUT THIS SUBJECT , In recent years there has been concern regarding the possibility that selective serotonin reuptake inhibitors (SSRIs) cause an increased rate of congenital cardiovascular anomalies. , As of today, there is still debate in the literature as to the possible effects of paroxetine and fluoxetine on the embryonic cardiovascular system. WHAT THIS STUDY ADDS , Based on prospective data from three Teratogen Information Services, we have demonstrated an increased rate of congenital cardiovascular anomalies among the offspring of fluoxetine- and paroxetine-treated mothers. AIMS Recent studies have suggested a possible association between maternal use of selective serotonin reuptake inhibitors (SSRIs) in early pregnancy and cardiovascular anomalies. The aim of the present study was to evaluate the teratogenic risk of paroxetine and fluoxetine. METHODS This multicentre, prospective, controlled study evaluated the rate of major congenital anomalies after first-trimester gestational exposure to paroxetine, fluoxetine or nonteratogens. RESULTS We followed up 410 paroxetine, 314 fluoxetine first-trimester exposed pregnancies and 1467 controls. After exclusion of genetic and cytogenetic anomalies, there was a higher rate of major anomalies in the SSRI groups compared with the controls [paroxetine 18/348 (5.2%), fluoxetine 12/253 (4.7%) and controls 34/1359 (2.5%)]. The main risk applied to cardiovascular anomalies [paroxetine 7/348 (2.0%), crude odds ratio (OR) 3.47, 95% confidence interval (CI) 1.13, 10.58; fluoxetine 7/253 (2.8%), crude OR, 4.81 95% CI 1.56, 14.71; and controls 8/1359 (0.6%)]. On logistic regression analysis only cigarette smoking of ,10 cigarettes day,1 and fluoxetine exposure were significant variables for cardiovascular anomalies. The adjusted ORs for paroxetine and fluoxetine were 2.66 (95% CI 0.80, 8.90) and 4.47 (95% CI 1.31, 15.27), respectively. CONCLUSION This study suggests a possible association between cardiovascular anomalies and first-trimester exposure to fluoxetine. [source]