Limb Deficiencies (limb + deficiency)

Distribution by Scientific Domains


Selected Abstracts


Vitamin supplements and the risk for congenital anomalies other than neural tube defects,

AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2004
Lorenzo D. Botto
Abstract Randomized trials, supported by many observational studies, have shown that periconceptional use of folic acid, alone or in multivitamin supplements, is effective for the primary prevention of neural tube defects (NTDs). Whether this is true also for other congenital anomalies is a complex issue and the focus of this review. It is useful to consider the evidence not only for specific birth defects separately but, importantly, also for all birth defects combined. For the latter, the Hungarian randomized clinical trial indicated, for periconceptional multivitamin use, a reduction in the risk for all birth defects (odds ratio (OR),=,0.53, 95% confidence interval (CI),=,0.35,0.70), even after excluding NTDs (OR,=,0.53, 95% CI,=,0.38,0.75). The Atlanta population-based case-control study, the only large observational study to date on all major birth defects, also found a significant risk reduction for all birth defects (OR,=,0.80, 95% CI,=,0.69,0.93) even after excluding NTDs (OR,=,0.84, 95% CI,=,0.72,0.97). These and other studies also evaluated specific anomalies, including those of the heart, limb, and urinary tract, as well as orofacial clefts, omphalocele, and imperforate anus. For cardiovascular anomalies, two studies were negative, whereas three, including the randomized clinical trial, suggest a possible 25,50% overall risk reduction, more marked for some conotruncal and septal defects. For orofacial clefts, six of seven case-control studies suggest an apparent reduced risk, which could vary by cleft type and perhaps, according to some investigators, by pill dosage. For limb deficiencies, three case-control studies and the randomized trial estimated approximately a 50% reduced risk. For urinary tract defects, three case-control studies and the randomized trial reported reduced risks, as did one study of nonsyndromic omphalocele. All these studies examined multivitamin supplement use. With respect to folic acid alone, a reduced rate of imperforate anus was observed among folic acid users in China. We discuss key gaps in knowledge, possible avenues for future research, and counseling issues for families concerned about occurrence or recurrence of these birth defects. © 2004 Wiley-Liss, Inc. [source]


Maternal severe migraine and risk of congenital limb deficiencies

BIRTH DEFECTS RESEARCH, Issue 8 2006
Ferenc Bánhidy
Abstract BACKGROUND: Migraines occurs frequently during pregnancy; however, there are no published data on their possible teratogenic potential in a controlled epidemiological study. Therefore, we examined the risk of congenital abnormalities in infants born to women who had migraines and other headaches during pregnancy. METHODS: Between 1980 and 1996, the Hungarian Case-Control Surveillance of Congenital Abnormalities evaluated 22,843 cases (newborns or fetuses) with congenital abnormalities, 38,151 control newborn infants without any abnormalities, and 834 malformed controls with Down syndrome. RESULTS: Migraines anytime during pregnancy occurred in 565 (2.5%) mothers of the case group compared with 713 (1.9%) mothers in the control group (crude prevalence odds ratio [POR], 1.3; 95% confidence interval [CI], 1.2,1.5) and 24 (2.9%) pregnant women in the malformed control group (crude POR, 0.9; 95% CI, 0.6,1.3) The mothers of 247 cases, 533 controls, and 21 malformed controls had severe migraines during the second and/or third months of pregnancy. There was only 1 congenital abnormality group: limb deficiencies, which had a higher rate of maternal migraines during the second and third months of pregnancy both at the comparison of cases and matched controls (adjusted POR, 2.5; 95% CI, 1.1,5.8) and of cases and malformed controls (adjusted POR, 1.7; 95% CI, 1.3,3.0). There was no association between other headaches and different congenital abnormalities at the comparison of cases and controls. CONCLUSIONS: Our data showed that maternal severe migraines during the second and/or third months of pregnancy were associated with an increased risk of congenital limb deficiencies. A similar association was not detected between congenital anomalies and other headaches during pregnancy. Our study was not based on a prior hypothesis; therefore, these data can be considered only as a signal that needs confirmation by independent data sets. Birth Defects Research (Part A), 2006. © 2006 Wiley-Liss, Inc. [source]


Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996,2002,

BIRTH DEFECTS RESEARCH, Issue 6 2008
Tasneem Husain
Abstract BACKGROUND:In utero vascular disruptions are thought to be associated with a variety of birth defects. This study examined the descriptive epidemiology of several of those defects using data from a large birth defects registry. METHODS: Data on birth defects ascertained from pregnancies in 1996,2002 were obtained from the Texas Birth Defects Registry. Using Poisson regression, we calculated crude and adjusted associations between maternal and infant characteristics and birth defects thought to be related to vascular disruption. We repeated the analysis using isolated cases and cases occurring in mothers <20 years. RESULTS: The most commonly shared pattern was observed for plurality and five defects: large intestinal atresia (PR 3.67; CI: 1.63,7.13), renal agenesis (PR 2.05; CI: 1.55,2.65), transverse limb deficiency (PR 1.85; CI: 1.28,2.57), porencephaly (PR 5.18; CI: 2.40,9.87), and Goldenhar syndrome (PR 3.45; CI: 1.04,8.53). Hispanics had the highest prevalence of gastroschisis (PR 1.21; CI: 1.05,1.40), transverse limb deficiency (PR 1.19; CI: 1.01,1.40), microtia/anotia (PR 2.22; CI: 1.83,2.70), and Poland anomaly (PR 1.90; CI: 1.26,2.93). Male infants were at greatest risk for renal agenesis (PR 1.58; CI: 1.40,1.80), porencephaly (PR 1.66; CI: 1.03,2.72), and Poland anomaly (PR 1.52; CI: 1.05,2.21). CONCLUSIONS: Our study confirmed findings in previous studies, but also uncovered several new associations. Birth Defects Research (Part A), 2008. © 2008 Wiley-Liss, Inc. [source]