			Home About us Contact

Major Congenital Anomalies (major + congenital_anomalies)

Distribution by Scientific Domains

Medical Sciences	50%
Life Sciences	50%

Selected Abstracts

Lack of correlation between elevated maternal serum hCG during second-trimester biochemical screening and fetal congenital anomaly

PRENATAL DIAGNOSIS, Issue 3 2005
Claudio Celentano
Abstract Objective Isolated elevations in midtrimester maternal serum human chorionic gonadotrophin concentrations (MShCG) have been reported to be associated with a substantially increased likelihood of fetal congenital malformations. The reported malformations included a wide range of organ systems, originating at different embryologic developmental stages. The purpose of our study was to determine the significance of an isolated elevated MShCG (>2.5 MoM) in midtrimester for the detection of fetal structural anomalies in a large population. Methods Among 10 144 women who underwent a biochemical triple screen at 15 to 18 weeks' gestation, 463 patients, who had an elevated MShCG, but normal ,-fetoprotein (AFP) and unconjugated estriol (uE3) levels, were identified. Patients with an integrated calculated Down syndrome risk above 1:250 were excluded. Only nonsmokers, at ages <35 years, without a history of prior fetal anomalies were included. The control group consisted of 463 patients with normal serum analyte concentrations and Down syndrome risks below 1:250, who were matched for maternal age and date of biochemical screen. All patients underwent a detailed genetic sonogram in which an anatomic survey and multiple ,soft markers' for aneuploidy were looked for. Newborns were examined by a senior pediatrician trained in dysmorphology. Results MShCG levels were 3.18 ± 0.72 versus 0.99 ± 0.43 MoM (p < 0.0001) in study and control groups respectively. Sonography revealed 8 versus 6 cases of major congenital anomalies among the 463 patients of their respective groups, and 39 versus 36 sonographic ,soft markers' for aneuploidy. Fetal karyotyping and neonatal examination for dysmorphology revealed 6 chromosomal anomalies (4 Down syndrome; 2 Turner syndrome) among the 8 major malformations in the study group, but none in the controls (p < 0.0001). Three of the 39 fetuses with ,soft markers' and elevated MShCG were found to have trisomy 21. Conclusion Isolated elevation of MShCG does not confer an increased risk of fetal congenital anomalies other than chromosomal abnormalities. However, elevated MShCG levels in combination with sonographic ,soft markers' for aneuploidy were associated with a high incidence of chromosomal anomalies, despite a normal biochemical triple screen risk estimate. Copyright © 2005 John Wiley & Sons, Ltd. [source]

Genetic tools and algorithms for gene discovery in major congenital anomalies,

BIRTH DEFECTS RESEARCH, Issue 1 2009
Patricia K. Donahoe
First page of article [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]

Reliability of the SNAP (score of neonatal acute p00hysiology) data collection in mechanically ventilated term babies in New South Wales, Australia

ACTA PAEDIATRICA, Issue 4 2002
L Sutton
The aim of this population-based, case-control, cohort study was to report inter-rater reliability between the New South Wales Neonatal Intensive Care Unit Data Collection (NICUS) audit nurses' collection of SNAP (OS) and a research nurse's SNAP data as the audit SNAP (AS). The study was carried out in Sydney and four large rural/urban health areas in New South Wales (NSW), Australia. The subjects,182 singleton term infants with no major congenital anomalies,were admitted to a tertiary neonatal intensive care unit (NICU) for mechanical ventilation. SNAP data were collected on the 182 case infants, born between 1 January and 31 December 1996, by clinical audit officers in the nine tertiary NICUs in NSW. The research officer conducted an audit of the original SNAP score on all infants. The data were examined using Pearson's correlation coefficient, weighted kappa, a plot of difference in SNAP against mean SNAP and Wilcoxon's signed rank sum test. Pearson's correlation coefficient between the OS and AS data was 0.80. Median (interquartile range) SNAP was 13 (9,19) for the OS and 14 (10,20) for the AS. Weighted kappa was highest for highest heart rate, paO2, temperature (°C), oxygenation index, haematocrit, platelet count, lowest serum sodium, lowest blood glucose and seizure. In 17 (9%) infants, OS and AS differed by ,10, 14 because of an original data collection error, 1 data entry error, 1 audit error and 1 for both data collection and data entry errors. Conclusion: If SNAP is to be incorporated into any routine NICU data collection, it should be audited regularly on a sample of records. It is important to standardize and adhere to strict definitions for parameters before the collection of SNAP data. [source]