Association of drug treatments in pregnant women with the risk of external ear congenital abnormalities in their offspring: a population-based case-control study

The objective of this study was to evaluate the possible association of drug treatments in pregnant women with a higher risk of congenital abnormalities of the external ear, particularly microtia/anotia, in their children. The frequency of drug treatments was compared in the mothers of cases with isolated or multiple (syndromic) ear abnormalities and in the mothers of three different controls: controls matched to cases, all controls (these controls had no defects) and malformed controls in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. There was no significantly higher use of any drug in the mothers of 354 cases with isolated external ear abnormalities than in the mothers of different controls. However, of 156 cases with multiple ear abnormalities, 11 had mothers with hydroxyethylrutosidea treatment and a characteristic pattern of congenital abnormalities was found in these children. Four cases with multiple ear abnormalities were born to epileptic mothers treated with valproate, phenytoin and polytherapy in two cases. Drug treatments are not important in the origin of isolated ear abnormalities. However, a higher risk of multiple ear abnormalities was found in children born to mothers with treatment of hydroxyethylrutosidea or antiepileptic drugs during pregnancy

Vaginal progesterone after tocolytic therapy in threatened preterm labour

Background: Currently preterm labour is one of the most challenging problem faced by both obstetricians and perinatologists, this episode in the course of woman’s pregnancy takes a heavy tool for perinatal mortality which accounts for approximately 50-75%. The incidence of preterm labour is estimated to be 5-10% of all pregnancies.Methods: It was a prospective randomize control trail over a period of 3 year at department of obstetrics and gynecology, tertiary care hospital Pune, Maharashtra, India. Total 100 subjects were randomized into two groups with group one receiving vaginal micronized progesterone and group two control group receiving only tocolytics and steroids. Subsequently authors compared the safety and efficacy of vaginal micronized progesterone versus placebo as a maintenance therapy in preventing preterm labour.Results: This analysis showed that women who randomized to progesterone prophylaxis had a significantly increase in duration of pregnancy. The mean of birthweight in Group A and Group B was 2963±36 gm and 2567±49 gm and respectively which confirmed the positive effects of progesterone on increasing infants’ weights at birth.Conclusions: Authors concluded that progesterone therapy had acceptable efficacy in the prevention of preterm labor in terms of prolongation of delivery and by increasing gestational age at delivery

Drug-prescribing patterns during pregnancy in the tertiary care hospitals of Pakistan: a cross sectional study

<p>Abstract</p> <p>Background</p> <p>The rationale for use of drugs during pregnancy requires a careful assessment as in addition to the mother, the health and life of her unborn child is also at stake. Information on the use of drugs during pregnancy is not available in Pakistan. The aim of this study was to evaluate the patterns of drug prescriptions to pregnant women in tertiary care hospitals of Pakistan.</p> <p>Methods</p> <p>This was a cross-sectional study conducted at five tertiary care hospitals of Pakistan. Copies of outpatient medicinal prescriptions given to pregnant patients attending the antenatal clinics were collected. The drugs were classified according to the pharmacological class and their teratogenic potential.</p> <p>Results</p> <p>All the pregnant women attending the antenatal clinics received a prescription containing at least one drug. A total of 3769 distinct prescriptions given to different women were collected. Majority of the women who received the prescriptions belonged to third trimester (55.4%) followed by second (33.6%) and first trimester (11.0%). On an average, each prescription contained 1.66 ± 0.14 drugs. The obstetricians at Civil Hospital, Karachi and Chandka Medical College Hospital, Larkana showed a tendency of prescribing lesser number of drugs compared to those in other hospitals. Anti-anemic drugs including iron preparations and vitamin and mineral supplements (79.4%) were the most frequently prescribed drugs followed by analgesics (6.2%) and anti-bacterials (2.2%). 739 women (19.6%) received prescriptions containing drugs other than vitamin or mineral supplements. Only 1275 (21.6%) of all the prescribed drugs (n = 6100) were outside this vitamin/mineral supplement class. Out of these 1275 drugs, 29 (2.3%) drugs were prescribed which are considered to be teratogenic. Misoprostol was the most frequently prescribed (n = 6) among the teratogenic drugs followed by carbimazole (n = 5) and methotrexate (n = 5). Twenty nine pregnant women (0.8% of all the women studied) were prescribed these teratogenic drugs.</p> <p>Conclusion</p> <p>Less than one percent of the pregnant women attending tertiary care hospitals in Pakistan are prescribed teratogenic drugs. The prescribing practices of Pakistani physicians are similar to those in western countries.</p

Coloboma: Chave Ocular Para Patologia Sistémica

Introdução: Um coloboma é uma anomalia do desenvolvimento que se caracteriza, na maioria dos casos, por um deficiente encerramento da fissura embrionária na 6ª semana da gestação. Trata-se de um defeito que pode afectar diferentes estruturas do globo ocular, nomeadamente, a íris, corpo ciliar, coróide, retina ou nervo óptico. A eventual associação com patologia sistémica e alterações genéticas faz com que o diagnóstico oftalmológico seja fundamental para a orientação e seguimento dos doentes. Material e métodos:Estudo retrospectivo de 26 doentes da Consulta de Oftalmologia Pediátrica do Hospital de São José, do Centro Hospitalar de Lisboa Central, através da consulta do processo, exames complementares de diagnóstico e registo fotográfico. Foram caracterizados os doentes de acordo com o sexo, idade, antecedentes familiares de anomalias oculares, antecedentes gestacionais, tipo de coloboma, localização, lateralidade, melhor acuidade visual corrigida, presença de outras anomalias oculares concomitantes e associação com doenças sistémicas. Com este estudo pretendemos avaliar e comparar o perfil dos doentes portadores de colobomas, comparando-o com o descrito na literatura, bem como salientar a importância para o seu seguimento, despiste de doenças sistémicas associadas e tratamento das complicações. Resultados: Dos 26 doentes avaliados, 14 (54%) eram do sexo feminino, e 12 (46%) do sexo masculino. A idade variou entre 1 e 25 anos, com média de 11,23 anos. A média da idade do diagnóstico foi de 2,6 anos, variando entre 1 mês até 8 anos de idade. Nenhum doente apresentava história familiar de coloboma, existindo história de prematuridade em 2 casos (8%). Quanto à localização, 16 casos (62%) apresentavam coloboma do disco óptico, 14 (54%) da íris e 13 (50%) colobomas coriorretinianos. Em 13 casos (50%) o coloboma atingia mais do que uma estrutura anatómica e era bilateral em 11 casos (42%). As acuidades visuais variaram entre ausência de percepção luminosa e 20/20. Apenas 3 casos (12%) apresentavam um coloboma isolado, sendo os restantes associados a outras alterações oftalmológicas, nomeadamente estrabismo em 13 casos (50%), microftalmia em 8 casos (31%), catarata em 3 casos (12%), descolamento de retina em 3 casos (12%) e nistagmus em 4 casos (15%). Da série de 26 doentes, 19 (73%) não apresentavam doenças sistémicas associadas ao coloboma. 4 doentes (15%) foram classificados como tendo síndrome CHARGE, 1 aguardando confirmação molecular (4%), 1 síndrome de Joubert, 1 síndrome de Kabuki e 1 síndrome de DiGeorge. Foram detectadas anomalias do desenvolvimento psicomotor em 8 casos (31%). Conclusões:O exame oftalmológico completo é importante no diagnóstico, prognóstico e vigilância de doentes com coloboma. O coloboma é frequentemente o primeiro achado diagnóstico nestas crianças, sendo que a referenciação pela Oftalmologia a outras especialidades é fundamental, devendo incluir o despiste das várias anomalias sistémicas que podem estar associadas.info:eu-repo/semantics/publishedVersio

Study of risk factors related to the orofacial clefts in Eastern Azerbaijan, Iran: Population-based from 2000 to 2015

Background and aims: Nowadays, Orofacial clefts are known as the most common orofacial birth defects. Several factors are responsible for problem, such as environmental factors, genetic background, nutritional deficiencies such as Vitamins, zinc, iron, maternal diseases, exposure to teratogenicagents, smoking, drugs, organic solvents. The aim of this study was to evaluate the of risk factors frequency of orofacial clefts in our rigion. Methods: This is an epidemiological study with retrospective database including parent’s age, family history, medical and drug history in pregnancy, toxin exposure, urbanistic habituation and parent’s job. Results: A total of 670 patients with orofacial cleft were studied. Parents were in 15-35 years old range. The frequency of cleft history in parents was 12.7. Passive smoking (7) and depression were the most common predisposing factor and most common maternal disease, respectively. Amoxicillin was the most common drug used in pregnancy period. Most of patients (92.5) did not live in high risk areas. The most common job in fathers was agricultural. Conclusion: Orofacial clefts are the multifactorial disease. Due to its prevention, there is a need to focus on the local risk factors to be able to reach further information to reduce its occurance rate and also to find a better way to reduce the related costs on both patients and healthcare system

Genetic screening for IRF6 and GRHL3 in Brazilians with non-syndromic cleft lip/palate / Triagem genética de IRF6 e GRHL3 em brasileiros com fissura lábio/palato não sindrômica

Cleft lip with or without cleft palate (CL/P) is the most frequent craniofacial anomaly. Advances in molecular and quantitative analysis suggests that the etiology is multifactorial of nonsyndromic CL/P (NSCL/P), and provide new opportunities to identify genes and gene-environment interactions relevant to the etiology of this common and representative birth defect. The present study aimed at detecting genetic variants in IRF6 and GRHL3 genes and susceptibility to NSCL/P in West Central and Northern Brazilian populations. We analyzed a set of 80 individuals with NSCL/P from Associação de Combate as Deformidades Faciais, recruited from Midwest and Northern Brazil. We performed Multiplex Ligation-dependent Probe Amplification (P304-B1-IRF6/GRHL3 (Lot B1-0116)) and PCR analysis for confirmation. In the MPLA study exon 4 of GRHL3, show possible alteration. Therefore, we performed a PCR validation of these alterations. The results showed no alteration on these genes (IRF6 and GRHL3) corroborating with previous studies. To our knowledge, this study of both genes is the first in these specific areas of Brazil, analyzing individuals with NSCL/P. Studies have identified a missense variant in the gene grainyhead-like-3 (GRHL3) in cleft palate individuals. The contribution of these genetic variants to NSCL/P susceptibility should be further investigated in different populations and cohorts. Thus, the underlying genetic causes of NSCL/P remain largely unknown

The Role of Environmental Factors in the Etiology of Nonsyndromic Orofacial Clefts

Background: Nonsyndromic orofacial clefts (NSOFCs) represent the most common congenital anomalies in the head and neck region. Multiple factors contribute to the occurrence of this anomaly. The etiology of NSOFCs in the Ethiopian population has not been investigated prior to this study.Aims of the Study: To assess the role of maternal environmental factors in the occurrence of NSOFCs in the Ethiopian Population.Methods: The authors used unmatched case control study design and evaluated the role of environmental factors to the occurrence of NSOFCs in the Ethiopian population. The participants were recruited from the same institution (Yekatit 12 Hospital Medical College). The authors studied 760 mothers (359 mothers of children born with NSOFCs and 401 mothers of children born without any congenital anomalies). Univariate and multivariate logistic regression analyses were used to calculate relative risk by odds ratio and 95% confidence interval.Results: Mothers who gave history of bronchial asthma and mothers who were admitted for threatened abortion had a higher risk of delivering a child with NSOFCS P value=0.013; AOR=0.194, 95% CI [0.053-0.712], P value &lt;0.001; AOR= 0.179, 95% CI [0.091-0.352] respectively. Higher number of children with NSOFCs were born to mothers who were exposed to diagnostic X-ray investigation during early pregnancy than those who were not exposed P value 0.048; AOR=0.375, 95% CI [0.142-0.990].Conclusion: Maternal exposure to diagnostic x-ray, maternal chronic illness like bronchial asthma and threatened abortion were found to be associated with the occurrence of NSOFCS in the studied population.</p

Is there a reduction of congenital abnormalities in the offspring of diabetic pregnant women after folic acid supplementation? A population-based case-control study

The objective of the present study was to estimate the preventive effect of folic acid for structural birth defects (i.e. congenital abnormalities [CAs]) in the offspring of pregnant women with diabetes mellitus type 1 (DM-1). The occurrence of medically recorded DM-1 in pregnant women who had malformed fetuses/newborns (cases) and delivered healthy babies (controls) with or without folic acid supplementation was compared in the population-based Hungarian Case-Control Surveillance System of Congenital Abnormalities. The case group included 22,843 offspring, and there were 79 (0.35%) pregnant women with DM-1, while the control group comprised of 38,151 newborns, and 88 (0.23%) had mothers with DM-1. Case mothers with DM-1 associated with a higher risk of total rate of CAs in their offspring (OR with 95% CI: 1.5, 1.1-2.0) compared to the total rate of CAs in the offspring of non-diabetic case mothers. This higher risk can be explained by four specific types/groups of CAs: isolated renal a/dysgenesis; obstructive CA of the urinary tract; cardiovascular CAs; and multiple CAs, namely caudal dysplasia sequence. However, there was no higher rate of total CAs in the children of pregnant women with DM-1 after folic acid supplementation; in addition, neural-tube defect and renal a/dysgenesis did not occur. However, this benefit cannot be explained by the CA reduction effect of folic acid during the critical period of major CAs. In conclusion, there was a certain reduction in maternal teratogenic effect of DM-1 after folic acid supplementation during pregnancy, but the explanation of this effect requires further study

Efficacy of medical care of epileptic pregnant women based on the rate of congenital abnormalities in their offspring

The objective of the present study was to check the efficacy of progress in the medical care of epileptic pregnant women on the basis of the reduction of different congenital abnormalities (CAs) in their offspring. First, the prevalence of medically recorded epilepsy was compared in 95 pregnant women who later had offspring with different CAs (case group) and 90 pregnant women who later delivered newborn infants without CA (control group) and matched to cases in the Hungarian Case-Control Surveillance System of Congenital Abnormalities, 1980-1996. Second, the rate of different CAs was compared in the offspring of epileptic pregnant women between 1980 and 1989 and 1990-1996. Cleft lip with or without cleft palate, cleft palate, cardiovascular CAs, oesophageal atresia/stenosis, hypospadias and multiple CAs showed a higher risk in the offspring of pregnant women with epilepsy treated with different antiepileptic drugs, explained mainly by polytherapy. There was no higher risk for total CAs after monotherapy. There was no significantly lower rate of total CAs in the offspring of epileptic pregnant women during the second period of the study. The efficacy of special medical care of epileptic pregnant women was not shown on the basis of decrease in the rate of CAs in the offspring of epileptic pregnant women

Maternal-related factors in the origin of isolated cleft palate-A population-based case-control study

Isolated cleft palate (CPO) is the rarest form of oral clefting affecting 1-25 per 10 000 newborns worldwide. There is increasing evidence for the different pathogenetic backgrounds of CPO and cleft lip with or without cleft palate. The role of environmental factors in the origin of non-syndromic and syndromic CPO is unclear in most patients. The aim of this study was to estimate possible maternal risk factors in the origin of CPO.The Hungarian Case-Control Surveillance of Congenital Abnormalities contains data of 32 345 birth defect cases and 57 231 control newborns. The study samples included 751 cases with isolated CPO, 1196 matched controls and 57 231 population controls.Maternal diseases during pregnancy in cases and population controls were compared, and adjusted ORs with 95% CI were calculated in a multivariable unconditional logistic regression model.Beyond the well-known robust female excess (58.9%)-maternal smoking (OR with 95% CI: 2.34, 1.94-2.81) medically recorded maternal anaemia, threatened abortion and excessive vomiting in pregnancy were associated with a higher risk for CPO in the offspring. An elevated risk was found in Graves' disease (OR: 4.30, 1.74-10.62), epilepsy (OR: 4.64, 2.44-8.82), migraine (OR: 2.82, 1.18-6.76) and essential hypertension (OR: 2.33, 1.32-4.10). Among acute diseases common cold (OR: 4.94, 3.48-7.03), acute respiratory infections (OR: 4.20, 1.49-11.82), influenza (OR: 2.95, 1.75-4.95), pulpitis (OR: 7.85, 2.80-22.03), cholecystitis (OR: 3.15, 1.16-8.60), acute urinary tract infections (OR: 4.08, 2.22-7.49) and pelvic inflammatory diseases (OR: 3.93, 1.62-9.53) during pregnancy also were associated with an increased risk for developing CPO.The findings of this study suggest that maternal diseases and lifestyle factors during the first trimester play a significant role in the development of isolated cleft palate