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Major Congenital Malformations (major + congenital_malformation)
Selected AbstractsPrescriptions filled during pregnancy for drugs with the potential of fetal harmBJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 13 2009S Kulaga Objective, To assess the extent of prescriptions filled by pregnant women for drugs with recognised potential of fetal harm, and to document the outcomes of these pregnancies. Design, Cross-sectional study. Population, Quebec Pregnancy Registry. Methods, We identified women who were pregnant during a five-year period and who were insured for prescription medications under the provincial drug plan. We obtained information on prescriptions filled during pregnancy for drugs with known potential of fetal harm. Main outcome measures, Prescriptions filled for study drugs during the first, second and third trimesters of pregnancy; termination of pregnancy (TOP) or delivery, and whether the baby was diagnosed with a major congenital malformation (MCM). Results, Of 109 344 women, 56% filled at least one prescription for a medication during pregnancy; 6.3% filled at least one prescription for a drug known to pose a risk to the fetus. Overall, 47% (95% CI, 45.8,48.2) of pregnancies exposed to drugs under study ended in TOP versus 36.2% (95% CI, 35.9,36.5) of those not exposed; 8.2% (95% CI, 8.0,10.0) of live births were diagnosed with an MCM during the first year of life versus 7.1% (95% CI, 6.9,7.3) of those not exposed. Conclusions, This study documents an important level of prescriptions filled during pregnancy for drugs harmful to the developing fetus. The proportions of both TOPs and babies born with MCMs were elevated compared with the expected values. Clinicians caring for women during pregnancy should conduct a medication inventory prior to a planned pregnancy, or as soon as an unplanned pregnancy is recognised. [source] Management issues for women with epilepsy,Focus on pregnancy (an evidence-based review): II.EPILEPSIA, Issue 5 2009Teratogenesis, perinatal outcomes Summary A committee assembled by the American Academy of Neurology (AAN) reassessed the evidence related to the care of women with epilepsy (WWE) during pregnancy, including antiepileptic drug (AED) teratogenicity and adverse perinatal outcomes. It is highly probable that intrauterine first-trimester valproate (VPA) exposure has higher risk of major congenital malformations (MCMs) compared to carbamazepine (CBZ), and possibly compared to phenytoin (PHT) or lamotrigine (LTG). It is probable that VPA as part of polytherapy and possible that VPA as monotherapy contribute to the development of MCMs. AED polytherapy probably contributes to the development of MCMs and reduced cognitive outcomes compared to monotherapy. Intrauterine exposure to VPA monotherapy probably reduces cognitive outcomes and monotherapy exposure to PHT or phenobarbital (PB) possibly reduces cognitive outcomes. Neonates of WWE taking AEDs probably have an increased risk of being small for gestational age and possibly have an increased risk of a 1-minute Apgar score of <7. If possible, avoidance of VPA and AED polytherapy during the first trimester of pregnancy should be considered to decrease the risk of MCMs. If possible, avoidance of VPA and AED polytherapy throughout pregnancy should be considered and avoidance of PHT and PB throughout pregnancy may be considered to prevent reduced cognitive outcomes. [source] Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissuesJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 5 2010Vincenzo Mazza Abstract We report on the case of a patient with mosaic trisomy 22, who was diagnosed prenatally by amniocentesis during the 16th week of pregnancy. In the foetus, three trisomic clones were found out of the nine that were analyzed (the other six clones had a 46,XY karyotype). Cytogenetic analysis of cord blood during the 20th week of pregnancy showed a normal male karyotype; however, a placental biopsy that was performed at the same time showed 100% and 95% trisomic cells in the chromosomal analysis of direct and long-term cultures, respectively. A follow-up ultrasonographic examination excluded major congenital malformations and the abdominal and cranial circumferences were normal until the 24th week of pregnancy. At this point, a deflection of the growth curve occurred and the values were persistently below the 3rd centile until birth. After birth, karyotypic and fluorescent in situ hybridisation analyses performed on the fibroblasts of the neonate showed that 3,4% of the cell lines were trisomic, and studies using microsatellite markers showed normal allelic segregation, which excluded uniparental disomy. The period of postnatal follow-up was characterised by a significant growth deficit (height and head circumference were less than the 3rd centile) and by mental retardation. The present case is compatible with other earlier reports that showed that the levels of trisomy 22 are tissue-specific and are of little help in establishing the prognosis of the chromosomal abnormality. [source] Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literaturePRENATAL DIAGNOSIS, Issue 6 2004Chih-Ping Chen Abstract Objectives To present the prenatal diagnosis of complete trisomy 9 and to review the literature Case A 25-year-old primigravida woman was referred for amniocentesis at 19 weeks' gestation because of abnormal maternal screen results showing an elevated maternal serum alpha-fetoprotein (MSAFP) level and a low maternal serum free ,-human chorionic gonadotrophin (MSfree,-hCG) level. Results Genetic amniocentesis revealed a karyotype of 47,XX,+9 in the amniocytes and an elevated amniotic fluid AFP level. Ultrasonography demonstrated intrauterine growth restriction, left congenital diaphragmatic hernia, fetal ascites, a sacral spina bifida, a horseshoe kidney, and absence of amniotic fluid. Ultrafast magnetic resonance imaging scans further depicted detailed anatomical configurations of the major congenital malformations. The pregnancy was terminated subsequently. The proband postnatally manifested characteristic facial dysmorphism, limb deformities, and an open sacral spina bifida with myelomeningocele. Cytogenetic analysis of the skin fibroblasts revealed a karyotype of 47,XX,+9. Molecular studies of various uncultured fetal tissues using microsatellite markers confirmed a diagnosis of complete trisomy 9 resulting from a meiotic I nondisjunction error of maternal origin. Conclusion Complete trisomy 9 can be identified prenatally with advanced maternal age, sonographically detected fetal structural abnormalities, and abnormal maternal serum screen results. Fetuses with complete trisomy 9 may be associated with congenital diaphragmatic hernia, an open sacral spina bifida, elevated MSAFP, and low MSfree,-hCG. We suggest detailed prenatal imaging investigations and genetic analyses of multiple fetal tissues when a prenatal diagnosis of trisomy 9 is made. Copyright © 2004 John Wiley & Sons, Ltd. [source] Case fatality among infants with congenital malformations by lethalityBIRTH DEFECTS RESEARCH, Issue 9 2004Kirk A. Bol Abstract OBJECTIVE Infant mortality rates continue to show that congenital anomalies are the leading cause of infant death in the United States. However, studies of factors contributing to increased mortality across different types of congenital anomalies have been limited. The objective of this study was to assess whether the likelihood of infant mortality varied by maternal race and ethnic group while considering the severity of the birth defect. METHODS A retrospective cohort analysis was conducted using data from Colorado's statewide, population-based birth defects surveillance system (CRCSN). The cohort included infants, born between 1995 and 2000 to Colorado resident mothers, who were diagnosed with major congenital malformations stratified by degree of lethality. Multiple logistic regression was performed for each level of lethality, and included the following potential explanatory variables: maternal race/ethnicity, clinical gestation, birth weight, maternal education level, maternal age, and sex of child. RESULTS Within the low/very low lethality cohort, maternal race/ethnicity of Black/non-Hispanic was associated with increased risk of infant mortality, OR 2.81 (1.41,5.19), as were low and very low birth weight, OR 2.21 (1.12,4.04) and 19.31 (11.84,31.01), respectively. Maternal race/ethnicity was not a significant risk factor in either high or very high lethality groups; however, the interaction between birth weight and gestational age significantly increased the risk of mortality. CONCLUSIONS Through the use of statewide, population-based birth defects surveillance data, a disparity in infant mortality has been identified in a specific subset of the population that could be investigated further and targeted for prevention activities. Birth Defects Research (Part A) 70:580,585, 2004. © 2004 Wiley-Liss, Inc. [source] Cerebral tissue oxygenation index and superior vena cava blood flow in the very low birth weight infantACTA PAEDIATRICA, Issue 1 2009M Moran Abstract Background: Superior vena cava (SVC) flow assesses blood flow from the upper body, including the brain. Near infrared spectroscopy (NIRS) provides information on brain perfusion and oxygenation. Aim: To assess the relationship between cerebral tissue oxygenation index (cTOI) and cardiac output measures in the very low birth weight (VLBW) infant in the first day of life. Methods: A prospective observational cohort study. Neonates with birth weight less than 1500 g (VLBW) were eligible for enrollment. Newborns with congenital heart disease, major congenital malformations and greater than Papile grade1 Intraventricular Haemorrhage on day 1 of life were excluded. Echocardiographic evaluation of SVC flow was performed in the first 24 h of life. Low SVC flow states were defined as a flow less than 40 mL/kg/min. cTOI was measured using NIRO 200 Hamamatsu. Results: Twenty-seven VLBW neonates had both echocardiography and NIRS performed. The median (range) gestation was 29/40 (25 + 3 to 31 + 5 weeks) and median birth weight was 1.2 kg (0.57,1.48 kg). The mean (SD) TOI was 68.1 (7.9)%. The mean (SD) SVC flow was 70.36(39.5) mLs/kg/min. The correlation coefficient of cerebral tissue oxygenation and SVC flow was r = 0.53, p-value 0.005. There was a poor correlation between right and left ventricular output and cTOI which is not surprising considering the influence of intra- and extracardiac shunts. Conclusion: There is a positive relationship between cerebral TOI values and SVC flow in the very low birth infant on day one of life. [source] Association of parental consanguinity with congenital malformations among Arab newborns in JerusalemCLINICAL GENETICS, Issue 1 2004R Bromiker The aim of this work was to determine the impact of parental consanguinity on congenital malformations in a mixed urban and rural Arab community in Jerusalem, Israel. Arab mothers admitted to four hospitals in west Jerusalem were interviewed after delivery. Demographic and obstetric data were recorded. Neonatal data were extracted from the medical records of the nursery. When malformations were suspected, a 4- to 10-month follow up was achieved for confirming the diagnosis. Of 561 infants, 253 (45%) were born to consanguineous couples. The incidence of major congenital malformations in the offspring was 8.7, 7.1 and 2.6% in cases of first cousins, all consanguineous, and non-consanguineous couples, respectively. No association was found between parental consanguinity and prematurity (p = 0.357) or low birth weight (p = 0.589). Parental consanguinity was also associated with an increased incidence of death in previous siblings (p < 0.000). The increased incidence of congenital malformations and infant mortality in cases of inbreeding prompt the necessity of establishing programs to avoid these complications in the offspring. [source] Randomized controlled study of the effects of different durations of light exposure on weight gain by preterm infants in a neonatal intensive care unitACTA PAEDIATRICA, Issue 6 2002N-Y Boo A randomized controlled study was carried out on 96 preterm infants (>37 wk) with birthweight less than 2000 g admitted to a neonatal intensive care unit. The aim was to compare the weight gain between preterm infants exposed to 12 h cyclical lighting (intensity of light: 78.4 ± 24.7 lux, mean ± SD) and those exposed to a continuously dim environment (5.9 ± 1.9 lux). The exclusion criteria were infants with major congenital malformations or who needed continuous lighting for treatment procedure and care. From day 7 of life until discharge, 50 infants were randomized to receive 12 h cyclical lighting and 46 infants to a continuously dim environment. There was no significant difference in the mean birthweight (12 h lighting vs continuously dim: 1482 vs 1465 g, p= 0.8), mean gestational age (31.6 vs 31.4 wk, p= 0.6), median duration of hospital stay (28.5 vs 28.5 d, p= 0.8), mean age to regain birthweight (13.0 vs 12.9 d, p= 0.3), mean weight gained by day 14 (27.6 vs 36.2 g, p= 1.0), median weight gain per day (11.9 vs 12.2 g, p= 0.9) or median body weight on discharge (1800 vs 1800g, p= 0.4) between the two groups of infants. Conclusion: Exposing preterm infants to either 12 h cyclical lighting or continuously dim environment did not have any significant effect on their weight gain during the neonatal period. [source] | |||||||||||||