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Prenatal test

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https://www.readbyqxmd.com/read/28647786/mosaic-embryo-transfer-after-oocyte-in-vitro-maturation-in-combination-with-non-invasive-prenatal-testing-nipt-first-report-of-a-euploid%C3%A2-live-birth
#1
Naomi Inoue, Rosmary Lopez, Andrea Delgado, Denisse Nuñez, Jimmy Portella, Luis Noriega-Hoces, Luis Guzmán
PURPOSES: The purpose of this study is to describe a healthy life birth after a mosaic embryo transfer in oocyte in vitro maturation (IVM). METHODS: Patient received minimal stimulation, starting on day 3 after menstrual period. No hCG trigger was administered. Oocyte retrieval was performed and oocytes were matured for 30 h. After denuding, mature oocytes were inseminated by ICSI. Embryos were cultured until blastocyst stage and biopsied. RESULTS: One euploid embryo after array comprehensive genome hybridization (aCGH) was diagnostic...
June 24, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28647310/effect-of-a-web-based-positive-psychology-intervention-on-prenatal-well-being-a-case-series-study
#2
Giulia Corno, Ernestina Etchemendy, Macarena Espinoza, Rocío Herrero, Guadalupe Molinari, Alba Carrillo, Constance Drossaert, Rosa Maria Baños
BACKGROUND: Detrimental effects of women's negative feelings during pregnancy have been extensively examined and documented, but research on the influence of positive feelings and protective factors on their prenatal mental health is scarce. Evidence from the positive psychology field has shown that practicing some brief positive exercises, called positive psychology interventions, can maximize well-being by increasing positive emotions, engagement, and meaning. AIM: The aim of this study is to examine the effect of a positive psychology web-based intervention on indices of women's prenatal well-being...
June 21, 2017: Women and Birth: Journal of the Australian College of Midwives
https://www.readbyqxmd.com/read/28645121/effect-of-obesity-on-gestational-and-perinatal-outcomes
#3
Sônia Regina Cabral Madi, Rosa Maria Rahmi Garcia, Vandrea Carla de Souza, Renato Luís Rombaldi, Breno Fauth de Araújo, José Mauro Madi
Purpose To assess the impact of pre-pregnancy obesity (body mass index [BMI] ≥ 30 kg/m(2)) on the gestational and perinatal outcomes. Methods Retrospective cohort study of 731 pregnant women with a BMI ≥ 30 kg/m(2) at the first prenatal care visit, comparing them with 3,161 women with a BMI between 18.5 kg/m(2) and 24.9 kg/m(2). Maternal and neonatal variables were assessed. Statistical analyses reporting the demographic features of the pregnant women (obese and normal) were performed with descriptive statistics followed by two-sided independent Student's t tests for the continuous variables, and the chi-squared (χ(2)) test, or Fisher's exact test, for the categorical variables...
June 23, 2017: Revista Brasileira de Ginecologia e Obstetrícia
https://www.readbyqxmd.com/read/28644929/short-interpregnancy-intervals-maternal-folate-levels-and-infants-born-small-for-gestational-age-a-preliminary-study-in-a-canadian-supplement-using-population
#4
Buffy Chen, Prescilla Carrion, Ravneet Grewal, Angela Inglis, Catriona Hippman, Emily Morris, Heather J Andrighetti, Arianne Albert, Jehannine Austin
BACKGROUND: Short interpregnancy intervals (SIPI) have been associated with increased risks for adverse neonatal outcomes including preterm delivery and infants small for gestational age (SGA). It has been suggested that mechanistically, adverse neonatal outcomes after SIPI arise due to insufficient recovery of depleted maternal folate levels prior to the second pregnancy. However, empirical data are lacking regarding physiological folate levels in pregnant women with SIPI, and relationships between quantified physiological folate levels and outcomes like SGA...
June 23, 2017: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
https://www.readbyqxmd.com/read/28644147/prevalence-of-prenatally-diagnosed-congenital-cystic-adenomatoid-malformation-among-fetuses-in-china
#5
Dazhi Fan, Qing Xia, Shuzhen Wu, Li Liu, Zhen Yu, Wen Wang, Song Wu, Xiaoling Guo, Zhengping Liu
The prevalence of congenital cystic adenomatoid malformation among fetuses still varies in different studies in China. The present meta-analysis was intended to evaluate the pooled prevalence of fetuses in China. Four English (Pubmed, Elsevier Science Direct, Web of Science and the Cochrane Library) and four Chinese (the Chinese Biological Medical Literature database, the Chinese National Knowledge Infrastructure database, VIP database and Wanfang Data) databases were searched from inception to July 2016. Meta-analyses were performed using Stata (version 12...
June 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28640470/contingent-first-trimester-screening-for-aneuploidies-with-cell-free-dna-in-a-danish-clinical-setting
#6
Caroline Borregaard Miltoft, Line Rode, Charlotte Kvist Ekelund, Karin Sundberg, Susanne Kjaergaard, Helle Zingenberg, Ann Tabor
OBJECTIVES: The primary aim was to compare the screening performance for Trisomy 21, of standard combined first trimester screening with referral to invasive testing at a cut-off at 1 in 300, with a contingent testing, consisting of referral to invasive testing at a 1 in 100 cut-off and referral to cell-free DNA (cfDNA) testing for a risk between 1 in 100 and 1 in 1000. METHODS: Singleton pregnant women with a combined first trimester risk ≥ 1 in 1000 were consecutively recruited from two Danish hospitals between August 2014 and May 2015...
June 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28639595/prenatal-diagnosis-of-steroid-21-hydroxylase-deficient-congenital-adrenal-hyperplasia-experience-from-a-tertiary-care-centre-in-india
#7
Sudhisha Dubey, Veronique Tardy, Madhumita Roy Chowdhury, Neerja Gupta, Vandana Jain, Deepika Deka, Pankaj Sharma, Yves Morel, Madhulika Kabra
BACKGROUND & OBJECTIVES: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most families opt for prenatal testing and termination of affected foetus. CAH can be diagnosed in utero through direct molecular analysis of CYP21A2 gene, using DNA extracted from foetal tissues or cells obtained from chorionic villus sampling or amniocentesis...
February 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28638671/prenatal-diagnosis-of-atrioventricular-block-and-qt-interval-prolongation-by-fetal-magnetocardiography-in-a-fetus-with-trisomy-18-and-scn5a-r1193q-variant
#8
Lisheng Lin, Miho Takahashi-Igari, Yoshiaki Kato, Yoshihiro Nozaki, Mana Obata, Hiromi Hamada, Hitoshi Horigome
We report a case of fetal trisomy 18 with SCN5A R1193Q variant that presented with sinus bradycardia, 2 : 1 atrioventricular block (AVB), and QT interval prolongation. These complex arrhythmias were diagnosed by fetal magnetocardiography combined with ultrasound findings. Advanced AVB and ventricular arrhythmias were confirmed after birth. Genetic testing of the baby revealed a SCN5A R1193Q variant, which we considered could account for the various arrhythmias in this case.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28637283/an-essential-physiological-role-for-mct8-in-bone-in-male-mice
#9
Victoria D Leitch, Caterina Di Cosmo, Xiao-Hui Liao, Sam O'Boy, Thomas M Galliford, Holly Evans, Peter I Croucher, Alan Boyde, Alexandra Dumitrescu, Roy E Weiss, Samuel Refetoff, Graham R Williams, J H Duncan Bassett
T3 is an important regulator of skeletal development and adult bone maintenance. Thyroid hormone action requires efficient transport of T4 and T3 into target cells. We hypothesized that monocarboxylate transporter-8, encoded by Mct8 on the X-chromosome, is an essential thyroid hormone transporter in bone. To test this hypothesis, we determined the juvenile and adult skeletal phenotypes of male Mct8 knockout mice (Mct8KO) and Mct8D1D2KO compound mutants, which additionally lack the ability to convert the prohormone T4 to the active hormone T3...
June 15, 2017: Endocrinology
https://www.readbyqxmd.com/read/28635537/prenatal-diagnosis-tests-and-women-s-risk-perception-a-cross-sectional-study
#10
Simona Fumagalli, Laura Antolini, Antonella Nespoli, Patrizia Vergani, Enrico Ferrazzi, Sara Oggioni, Anna Locatelli
OBJECTIVE: To investigate women's decision to undergo non-invasive and/or invasive tests for prenatal diagnosis depending on the procedure-related risk and the risk of carrying a foetus with Down syndrome (DS). Both risks are rated in terms of numerical relevance and acceptability. METHOD: A sample of 448 consecutive women with low-risk pregnancies were interviewed to collect social and clinical variables and to determine their perceptions of the risks of invasive procedure-related miscarriage and carrying a foetus with DS...
February 22, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28635528/clinical-social-and-ethical-issues-associated-with-non-invasive-prenatal-testing-for-aneuploidy
#11
Blanche Griffin, Samantha Edwards, Lyn S Chitty, Celine Lewis
Non-invasive prenatal testing (NIPT), based on analysis of cell-free foetal DNA, is rapidly becoming a preferred method to screen for chromosomal aneuploidy with the technology now available in over 90 countries. This review provides an up-to-date discussion of the key clinical, social and ethical implications associated with this revolutionary technology. Stakeholders are positive about a test that is highly accurate, safe, can be perfomed early in pregnancy, identifies affected pregnancies that might otherwise have been missed and reduces the need for invasive testing...
February 9, 2017: Journal of Psychosomatic Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28635121/exposure-to-sodium-valproate-during-pregnancy-facial-features-and-signs-of-autism
#12
Rachel Stadelmaier, Hanah Nasri, Curtis K Deutsch, Margaret Bauman, Anne Hunt, Christopher J Stodgell, Jane Adams, Lewis B Holmes
BACKGROUND: Valproic acid (VPA) is the most teratogenic anticonvulsant drug in clinical use today. Children exposed prenatally to VPA have previously been shown to have dysmorphic craniofacial features, identified subjectively but not by anthropometric methods. Exposure to VPA has also been associated with an increased frequency of autism spectrum disorder (ASD). An increased cephalic index (the ratio of the cranial lateral width to the cranial anterior-posterior length) has been observed in children with ASD...
June 21, 2017: Birth defects research
https://www.readbyqxmd.com/read/28627408/developmental-exposure-to-glyphosate-based-herbicide-and-depressive-like-behavior-in-adult-offspring-implication-of-glutamate-excitotoxicity-and-oxidative-stress
#13
Daiane Cattani, Patrícia Acordi Cesconetto, Mauren Kruger Tavares, Eduardo Benedetti Parisotto, Paulo Alexandre De Oliveira, Carla Elise Heinz Rieg, Marina Concli Leite, Rui Daniel Schröder Prediger, Nestor Cubas Wendt, Guilherme Razzera, Danilo Wilhelm Filho, Ariane Zamoner
We have previously demonstrated that maternal exposure to glyphosate-based herbicide (GBH) leads to glutamate excitotoxicity in 15-day-old rat hippocampus. The present study was conducted in order to investigate the effects of subchronic exposure to GBH on some neurochemical and behavioral parameters in immature and adult offspring. Rats were exposed to 1% GBH in drinking water (corresponding to 0.36% of glyphosate) from gestational day 5 until postnatal day (PND)-15 or PND60. Results showed that GBH exposure during both prenatal and postnatal periods causes oxidative stress, affects cholinergic and glutamatergic neurotransmission in offspring hippocampus from immature and adult rats...
June 13, 2017: Toxicology
https://www.readbyqxmd.com/read/28624747/who-is-most-affected-by-prenatal-alcohol-exposure-boys-or-girls
#14
Philip A May, Barbara Tabachnick, Julie M Hasken, Anna-Susan Marais, Marlene M de Vries, Ronel Barnard, Belinda Joubert, Marise Cloete, Isobel Botha, Wendy O Kalberg, David Buckley, Zachary R Burroughs, Heidre Bezuidenhout, Luther K Robinson, Melanie A Manning, Colleen M Adnams, Soraya Seedat, Charles D H Parry, H Eugene Hoyme
OBJECTIVE: To examine outcomes among boys and girls that are associated with prenatal alcohol exposure. METHODS: Boys and girls with fetal alcohol spectrum disorders (FASD) and randomly-selected controls were compared on a variety of physical and neurobehavioral traits. RESULTS: Sex ratios indicated that heavy maternal binge drinking may have significantly diminished viability to birth and survival of boys postpartum more than girls by age seven...
June 15, 2017: Drug and Alcohol Dependence
https://www.readbyqxmd.com/read/28624447/enhanced-first-trimester-screening-for-trisomy-21-with-contingent-cell-free-fetal-dna-a-comparative-performance-and-cost-analysis
#15
Tianhua Huang, Wendy S Meschino, Mari Teitelbaum, Shelley Dougan, Nan Okun
OBJECTIVE: Prenatal screening for trisomy 21 is a standard of care. Emerging cell-free fetal DNA (cffDNA) technologies can improve screening performance, but they are expensive. This study was conducted to propose a contingent screening model that would incorporate cffDNA technology, would remain affordable, and could be applied equitably in a publically funded system. METHODS: Using performance and cost parameters from published literature, four prenatal screening strategies were compared...
June 14, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28623846/sonocad-a-software-to-solve-the-dilemma-of-the-prenatal-diagnosis-of-fetal-syndromes
#16
Mahmoud Abdelnaby, Abdulmeneam Fawzi, Manal Swelem, Hisham Elgammal, Hamdy Elgammal
OBJECTIVE: The aim of this work is to develop an efficient, user friendly, time saving computer software program specified with prenatal diagnosis, based solely on ultrasound findings provided by the sonographer. MATERIALS AND METHOD: SonoCAD (Sonographyic Computer Assisted Diagnosis) program was developed in 4 phases. Phase I, data gathering phase. Phase II the software development phase in which the source code of the software was developed. Phase III, system testing phase, was divided into 2 steps...
June 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28622973/maternal-programming-of-sex-specific-responses-to-predator-odor-stress-in-adult-rats
#17
Sophie St-Cyr, Sameera Abuaish, Shathveekan Sivanathan, Patrick O McGowan
Prenatal stress mediated through the mother can lead to long-term adaptations in stress-related phenotypes in offspring. This study tested the long-lasting effect of prenatal exposure to predator odor, an ethologically relevant and psychogenic stressor, in the second half of pregnancy. As adults, the offspring of predator odor-exposed mothers showed increased anxiety-like behaviors in commonly used laboratory tasks assessing novelty-induced anxiety, increased defensive behavior in males and increased ACTH stress reactivity in females in response to predator odor...
June 20, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/28622418/severe-apparently-isolated-fetal-ventriculomegaly-and-neurodevelopmental-outcome
#18
Mathilde Letouzey, Alexandra Chadie, Marie Brasseur-Daudruy, François Proust, Eric Verspyck, Pascal Boileau, Stéphane Marret
OBJECTIVE: To assess the neurodevelopmental outcome of children with a prenatal diagnosis of apparently isolated severe ventriculomegaly (SVM). METHOD: Retrospective cohort study from 1994 to 2011. We included fetuses with unilateral or bilateral ventriculomegaly equal to or greater than 15 mm at prenatal ultrasound and confirmed by Magnetic Resonance Imaging, whose parents chose continuation of pregnancy past 22 weeks, and with no associated findings at diagnosis (i...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28621806/inequalities-in-uptake-of-prenatal-screening-according-to-ethnicity-and-socio-economic-status-in-the-four-largest-cities-of-the-netherlands-2011-2013
#19
Anke G Posthumus, Ingrid A Peters, Gerard J Borsboom, Maarten F C M Knapen, Gouke J Bonsel
OBJECTIVES: In the Netherlands, all women are claimed to have equal access to prenatal screening (PS). Prior research demonstrated substantial inequalities in PS uptake associated with socioeconomic status (SES) and ethnic background. The suggested pathway was a lack of intention to participate in PS among these subgroups. We studied the background of inequalities in PS participation, challenging intention heterogeneity as the single explanation. METHODS: Multivariable logistic regression analyses of the national PS registry, focusing on the four largest cities in the Netherlands (n= 4578, years 2011-2013), stratified by SES...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28621052/10p15-3p13-duplication-inherited-from-paternal-balance-translocation-46-xy-t-5-10-q35-1-p13-identified-on-non-invasive-prenatal-testing
#20
Jin Mei, Hao Wang, Liyong Zhan
Balanced reciprocal translocations are relatively common human genetic abnormalities that involve the exchange of the terminal segments between different chromosomes and have an approximately 5-80% chance of generating an embryo with chromosomal abnormalities. Non-invasive prenatal testing (NIPT) has been increasingly used in clinical practice to detect fetal trisomies 21, 18 and 13 with a sensitivity and specificity of up to 99%. In this report, we describe a duplication on chromosome 10 and a deletion on chromosome 5 that were first detected on NIPT...
June 2017: Journal of Obstetrics and Gynaecology Research
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