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Avent N D - - 2013
Down syndrome is the most common cause of mental retardation and has an incidence of between 1:600 and 1:800 pregnancies. It is the condition for which prenatal diagnosis is requested the most and most developed countries have adopted a screening program based around maternal plasma/serum testing and ultrasound. Advances have ...
Peuhkurinen Sini - - 2013
OBJECTIVE: To compare the efficacy of fetal nuchal translucency screening, maternal serum screening and combined screening for Down's syndrome. DESIGN: A prospective study. SETTING: University hospital and its public health care district in Northern Finland. POPULATION: Altogether 35 314 women participated in the first trimester screening for Down's syndrome within the ...
Reisch Nicole N Centre for Endocrinology, Diabetes, and Metabolism, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham B15 2TT, United - - 2013
Mutations in the electron donor enzyme P450 oxidoreductase (POR) result in congenital adrenal hyperplasia with apparent combined 17α-hydroxylase/17,20 lyase and 21-hydroxylase deficiencies, also termed P450 oxidoreductase deficiency (PORD). Major clinical features present in PORD are disordered sex development in affected individuals of both sexes, glucocorticoid deficiency, and multiple skeletal malformations. ...
Fehmi Yazıcıoğlu H - - 2013
OBJECTIVES: The aim of this study is to determine the frequency of aberrant right subclavian artery (ARSA) in trisomic and normal fetuses during the routine detailed ultrasonography in the second trimester and to evaluate the potential value of ARSA as an ultrasonographic marker for trisomy 21. METHODS: The presence of ...
Chamberlain Catherine - - 2013
BACKGROUND: Recently proposed international guidelines for screening for Gestational Diabetes Mellitus (GDM) recommend additional screening in early pregnancy for sub-populations at a high risk of Type 2 Diabetes Mellitus (T2DM), such as indigenous women. However, there are criteria that should be met to ensure the benefits outweigh the risks of ...
Coleman Carrie A - - 2013
Pregnancy is a particularly motivating time for a woman to access the health care system and seek out preventative services. Papanicolaou screening is a routine part of the initial examination. Although the vast majority of smears will have a normal result, it is important for providers to be aware of ...
Jones Theodore B - - 2013
Alcohol consumption during pregnancy remains a common occurrence and is associated with a multitude of adverse birth and long-term outcomes. Binge drinking in particular is shown to be particularly harmful to the developing fetus. Effects include full fetal alcohol syndrome, with characteristic facial dysmorphology, growth restriction, and developmental to delays. ...
Frank Maya - - 2013
OBJECTIVE: To compare the profile of mid gestation triple test serum markers between a cohort of women with history of pregnancy complications with hereditary versus acquired thrombophilia. All were treated with low molecular weight heparin (LMWH) prior to 12 weeks' gestation. METHODS: A retrospective analysis of second trimester maternal serum screening ...
Rood Kara - - 2013
Markedly elevated maternal serum alpha-fetoprotein (MSAFP) levels were found in a 26 year old healthy, nulliparous Polish woman during pregnancy. No fetal abnormalities were identified on targeted ultrasound and amniocentesis revealed normal amniotic fluid alpha-fetoprotein (AFP) values. Maternal ultrasound screening for liver and ovarian germ cell malignancies were also negative. ...
Ergin R N - - 2013
The authors aimed to determine some practical contributive biometry ratios of the first trimester screening in order to note more accurate measurements and recognize abnormal/mistaken measurements. All medical records of singleton pregnancies whose first-trimester screening that was performed between the years of 2004-2010, were evaluated retrospectively. Singleton pregnancies with detected/suspicious ...
Vimercati Antonella - - 2013
this paper reports an association between an increased Nuchal Translucency (NT) and Osteogenesis Imperfecta (OI), a type of skeletal dysplasia. Measurement of fetal NT at 10-14 weeks of gestation is a sensitive and effective screening method for chromosomal abnormalities. a 35-year- old Caucasian woman in her fourth pregnancy was referred ...
Yoshida Tomomi - - 2013
Background: Most developing countries have been unable to implement well-organized health care systems, especially comprehensive Pap smear screening-based programs. One of the reasons for this is regional differences in medical services, and a low-cost portable cervical screening system is necessary. To improve regional discrepancies in cervical screening systems, we investigated ...
Chang Donny L F - - 2013
Observational studies have demonstrated that maternal thyroid dysfunction and thyroid autoimmunity in pregnancy may be associated with adverse obstetric and fetal outcomes. Treatment of overt maternal hyperthyroidism and overt hypothyroidism clearly improves outcomes. To date there is limited evidence that levothyroxine treatment of pregnant women with subclinical hypothyroidism, isolated hypothyroxinemia, ...
Mehran L - - 2013
The presence of thyroid autoantibodies is relatively high in women of childbearing age. There is evidence that positive thyroperoxidase antibody even in euthyroid women may increase the risk of spontaneous and recurrent pregnancy loss and preterm delivery. However, the evidence is not enough to justify recommendation on the screening of ...
Arroll Nicola - - 2013
To determine whether there were "quality gaps" in the provision of care during pregnancies that resulted in a perinatal death due to congenital abnormality. Perinatal deaths from congenital cardiovascular, central nervous system or chromosomal abnormality in 2010 were identified retrospectively. Data were extracted by retrospective clinical note review and obtained ...
Reitter A - - 2013
Objective. To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study Design. The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the department for prenatal screening and/or during labour between January 1, 2002 and December 31, 2012, ...
Czuba Bartosz - - 2013
Objective. The aim of this study was to evaluate the effectiveness of prenatal screening for trisomy 18 with the use of the frontomaxillary facial angle (FMF angle) measurement. Material and Methods. The study involved 1751 singleton pregnancies at 11-13 + 6 weeks, examined between 2007 and 2011. Serum PAPP-A and ...
Potlukova Eliska E Third Department of Medicine, General University Hospital and First Faculty of Medicine, Charles University in Prague, Prague, Czech - - 2013
Functional deficiency of mannan-binding lectin (MBL) has been associated with adverse pregnancy outcome. Adverse events during pregnancy have also been described in women with autoimmune thyroid diseases (AITD), and thyroid hormones have been shown to influence serum levels of MBL. Therefore, the aim of this study was to analyse the ...
Benhalima Katrien - - 2013
There is lack of consensus concerning the best screening strategy for gestational diabetes (GDM). The aim of our survey was therefore to investigate attitudes and practices of all obstetrical centers in the northern part of Belgium regarding screening for pregestational diabetes in early pregnancy and screening for GDM. We also ...
Chambers Anne E - - 2012
ABSTRACT: BACKGROUND: Soluble LH/hCG receptor (sLHCGR) released from placental explants and transfected cells can be detected in sera from pregnant women. To determine whether sLHCGR has diagnostic potential, quantitative ELISAs were developed and tested to examine the correlation between pregnancy outcome and levels of serum sLHCGR and hCG-sLHCGR complex. METHODS: ...
Scazzocchio E - - 2012
OBJECTIVE: Evaluate the effectiveness of an integrated first-trimester screening test to predict preeclampsia. STUDY DESIGN: A prospective cohort of singleton pregnancies underwent routine first-trimester screening between 2009 and 2011 (n=5759). A logistic regression-based predictive model for early and late onset preeclampsia was constructed based on maternal characteristics; levels of pregnancy ...
Lai Jonathan - - 2012
Abstract Objective: To investigate the potential value of maternal serum concentration of activin-A at 30-33 weeks' gestation in the prediction of preeclampsia (PE) developing at or after 34 weeks. Methods: Serum concentrations of activin-A were measured at 11-13 and at 30-33 weeks' gestation in a case-control study of 50 cases ...
Spencer Kevin - - 2012
OBJECTIVE: To determine the average within person biological variability of free-β human chorionic gonadotrophin (free hCGβ), intact hCG and pregnancy-associated plasma protein A (PAPP-A), and to establish analytical goals for the measurement of these markers when used in first trimester screening. METHODS: Free hCGβ, PAPP-A and intact hCG were measured ...
Illescas Tamara - - 2012
OBJECTIVES: Combined screening for chromosome abnormalities in the first trimester of pregnancy is based on maternal age, nuchal translucency (NT) and biochemical markers (PAPP-A and free β-hCG). We sought to assess the value of the variables used in the combined screening strategy taking into account maternal gravidity and foetal gender. ...
Lepoutre Thibault - - 2012
Background/Aims: Universal screening for thyroid diseases during pregnancy is controversial. Targeted screening does not identify all women with thyroid dysfunction. Furthermore, antithyroid peroxidase antibodies (TPOAb) are suspected to be associated with an increased risk of fetal loss, premature delivery and hypothyroidism. The aim of our study was to assess the ...
Fallahian Masoumeh - - 2012
Digynic triploidy is classically associated with a severely growth restricted fetus and a small nonmolar placenta. However, in genotyping hydatidiform moles as part of clinical practice, we identified two digynic triploid conceptions presenting with histopathological features of classical complete hydatidiform mole (CHM). Both cases occurred in women with a history ...
Bhukhanvala Dipal S DS Department of Research, Surat Raktadan Kendra & Research Centre (NABH Accredited Regional Blood Transfusion Centre), 1st Floor, Khatodara Health Centre, Besides Chosath Joganiyo Mata's Temple, Udhana Magdalla Road, Khatodara, Surat, 394 210 - - 2013
Our aim was to identify couples at risk of having a homozygous or compound heterozygous child with a severe hemoglobinopathy by antenatal screening and prenatal diagnosis in Surat, South Gujarat. Pregnant women were screened for hemoglobinopathies by means of red cell indices, the solubility test, cellulose acetate electrophoresis tests, and ...
Vinggaard Christensen Anne - - 2012
BACKGROUND: The introduction of prenatal screening for all pregnant women in Denmark in 2004 has lead to an increase in the number of late terminations of pregnancy after the 12th week of pregnancy. Midwives' experiences with late termination of pregnancy (TOP) are still poorly described in the scientific literature. AIM: ...
Vila Lluís - - 2012
There is a controversy among different scientific societies in relation to the recommendations on whether universal screening for the detection of thyroid dysfunction during gestation should be performed or not. Although various studies have shown an association between subclinical hypothyroidism or hypothyroxinemia with obstetric problems and/or neurocognitive impairment in the ...
Wan Xiaohua - - 2012
Background and objectives. The study aimed to compare the α fetoprotein (AFP), total β-human chorionic gonadotropin (hCG), and unconjugated estriol (uE3) levels in the second-trimester triple screening for Down syndrome with different regions, and to analyse the related factors that influenced the screening performance. Materials and methods. The study was ...
Shiefa S S SRL Diagnostics, Fortis Healthcare Enterprise, Clinical Biochemist, 64, Al Razi Unit 1007, Block A, P.O. Box 505143, Dubai Health Care City, United Arab - - 2013
The first trimester screening programme offers a noninvasive option for the early detection of aneuploidy pregnancies. This screening is done by a combination of two biochemical markers i.e. serum free β-human chorionic gonadotrophin (free β-hCG) and pregnancy associated plasma protein A (PAPP-A), maternal age and fetal nuchal translucency (NT) thickness ...
Karnis Megan Freebury - - 2012
Turner syndrome results in infertility in most cases. Fertility preservation through the cryopreservation of oocytes or ovarian tissue may be an option for some girls with Turner syndrome. Oocyte donation results in high pregnancy rates (PR). Those women who plan to pursue pregnancy need comprehensive screening and counseling before and ...
Bruckner Tim A TA Program in Public Health and Department of Planning, Policy and Design, University of California at Irvine, 202 Social Ecology I, Irvine, CA 92697, USA. - - 2012
The risk of abnormalities and morbidity among live births increases with advanced maternal age. Explanations for this elevated morbidity invoke several maternal mechanisms. The relaxed filter stringency (RFS) hypothesis asserts that mothers, nearing the end of their reproductive lifespan, reduce the stringency of a screen of offspring quality in utero ...
Stagnaro-Green Alex - - 2012
The thyroid gland is substantially challenged during pregnancy. Total T(3) and T(4) levels increase by 50% during pregnancy owing to a 50% increase in thyroxine-binding globulin levels. Serum TSH levels decrease in the first trimester and increase in the second and third trimesters; however, not to prepregnancy levels. Hypothyroidism is ...
Jørgensen Jennifer M - - 2012
The implementation of new methods of treating and preventing disease raises many question of both technical and moral character. Currently, many studies focus on developing a screening test for preeclampsia (PE), a disease complicating 2-8% of pregnancies, potentially causing severe consequences for pregnant women and their fetuses. The purpose is ...
Ringholm Lene - - 2012
Type 1 diabetes mellitus in pregnant women increases the risk of adverse outcomes for mother and offspring. Careful preconception counselling and screening is important, with particular focus on glycaemic control, indications for antihypertensive therapy, screening for diabetic nephropathy, diabetic retinopathy and thyroid dysfunction, as well as review of other medications. ...
Kulaksizoglu Sevsen - - 2012
This study was designed to compare first-trimester maternal serum biochemical markers of aneuploidy and fetal nuchal translucency in pregnancies complicated by gestational diabetes mellitus and those of a control group. The study included 60 gestational diabetic and 60 control women who attended the first-trimester combined screening program for Down syndrome ...
Beneventi Fausta - - 2012
OBJECTIVE: To evaluate the effect of connective tissue disease (CTD) diagnosed during the first trimester on uterine arteries (UtA) Doppler velocities and on pregnancy outcomes. METHOD: Pregnant women were screened for CTDs during the first trimester, using a questionnaire, testing for autoantibodies, rheumatologic examination and UtA Doppler evaluations. RESULTS: Out ...
Hammoud Nurah M - - 2012
Abstract Objective: To investigate whether outcome differs between pregnancies complicated by gestational diabetes mellitus (GDM), which was either detected by risk-factor based screening when no clinical signs are apparent (screening-group) or due to clinical signs of hyperglycemia (e.g. accelerated fetal growth or hydramnios) (diagnosiscreening-group). Methods: A retrospective cohort of 249 ...
Risson David C - - 2012
Neonatal alloimmune thrombocytopenia (NAIT), with an incidence of one in 1000 live births, is the most common cause of severe thrombocytopenia and intra-cerebral haemorrhage in term neonates. NAIT results from trans-placental passage of maternal antibodies against a paternally derived fetal platelet alloantigen. Clinical presentation varies from unexpected thrombocytopenia on a ...
Gandhi Kusum R - - 2012
This paper presents a rare anatomical variation in the form of accessory fallopian tube on right side. The duplication of fallopian tube was observed in a 34-year-old female during routine undergraduate dissection in our department. Fallopian tube is the part of uterus that carries the ovum from the ovary to ...
Karadzov-Orlić Natasa - - 2012
Aneuploidies are the major cause of perinatal death and early psychophysical disorders. In this study, we analyzed detection and false-positive rates of screening for aneuploidies in the first trimester by the combination of maternal age, fetal nuchal translucency (NT) thickness and maternal serum free beta-human chorionic gonadotrophin (beta-hCG), and pregnancy-associated ...
Haghpanah Sezaneh - - 2012
Despite premarital screening, prenatal diagnosis and the option for voluntary termination of pregnancy, some Iranian couples continue a pregnancy with a fetus affected with beta-thalassaemia major (β-TM). We examined the reasons for this decision, to evaluate the sociocultural challenges these couples face. A retrospective evaluation of medical records of all ...
Macones George A - - 2012
In the roundtable that follows, clinicians discuss a study published in this issue of the Journal in light of its methodology, relevance to practice, and implications for future research. Article discussed: Bernard J-P, Cuckle HS, Stirnemann JJ, et al. Screening for fetal spina bifida by ultrasound examination in the first ...
Macones George A - - 2012
The article below summarizes a roundtable discussion of a study published in this issue of the Journal in light of its methodology, relevance to practice, and implications for future research. Article discussed: Bernard J-P, Cuckle HS, Stirnemann JJ, et al. Screening for fetal spina bifida by ultrasound examination in the ...
Hotham E E 1 School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, - - 2012
The World Health Organization has identified substance use in the top 20 risk factors for ill health. Risks in pregnancy are compounded, with risk to the woman's health, to pregnancy progression and on both the foetus and the newborn. Intrauterine exposure can result in negative influences on offspring development, sometimes ...
Guanciali-Franchi Paolo - - 2012
A 40-year-old woman presented in her second pregnancy, naturally conceived. Maternal serum screening and ultrasound examination raised concerns regarding aneuploidy. After genetic counselling an amniocentesis was performed, showing a 69,XXX karyotype.Here we report a case of digynic triploidy, which resulted from fertilization of a diploid ovum by a single sperm.
Ferraioli Domenico - - 2012
Cervical cancer is the second most common cancer diagnosed during pregnancy. Conservative management is possible, and different options should be discussed with patients. The main decision parameters are stage of disease, lymph node status, trimester of pregnancy and wishes of the patient. We reviewed our experience on cases of early-stage ...
Bravo-Valenzuela Nathalie Jeanne Magioli - - 2012
The study reported here is a rare case of fetal sinus bradycardia that evolved into symptomatic bradycardia after birth, at which time the implantation of a cardiac pacemaker was indicated. Fetal echocardiography was used to diagnose the type of cardiac rhythm that caused the intra-uterine bradycardia, which enabled the initiation ...
Ilker Arikan - - 2012
The incidence of non-Hodgkin's lymphoma (NHL) during pregnancy is about 0.8 cases per 100,000 women. We describe a case of a 33-year-old woman with primary brain T-cell NHL who was diagnosed at the 32nd week of gestation. She visited the emergency room complaining of a headache, vomiting and drowsiness. Her ...
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