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Prenatal test

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https://www.readbyqxmd.com/read/29146387/dilemmas-in-genetic-counseling-for-low-penetrance-neuro-susceptibility-loci-detected-on-prenatal-chromosomal-microarray-analysis
#1
Dana Brabbing-Goldstein, Adi Reches, Ran Svirsky, Anat Bar-Shira, Yuval Yaron
BACKGROUND: Chromosomal microarray analysis is standard of care in fetuses with malformations, detecting clinically significant copy number variants in 5-7% of cases over conventional karyotyping. However, it also detects variants of uncertain significance in 1.6% - 4.2% of the cases, some of which are low-penetrance neuro-susceptibility loci. The interpretation of these variants in pregnancy is particularly challenging, because the significance is often unclear and the clinical implications may be difficult to predict...
November 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29145863/assessing-quality-of-maternity-care-in-hungary-expert-validation-and-testing-of-the-mother-centered-prenatal-care-mcpc-survey-instrument
#2
Nicholas Rubashkin, Imre Szebik, Petra Baji, Zsuzsa Szántó, Éva Susánszky, Saraswathi Vedam
BACKGROUND: Instruments to assess quality of maternity care in Central and Eastern European (CEE) region are scarce, despite reports of poor doctor-patient communication, non-evidence-based care, and informal cash payments. We validated and tested an online questionnaire to study maternity care experiences among Hungarian women. METHODS: Following literature review, we collated validated items and scales from two previous English-language surveys and adapted them to the Hungarian context...
November 16, 2017: Reproductive Health
https://www.readbyqxmd.com/read/29144978/attendance-at-prenatal-care-and-adverse-birth-outcomes-in-china-a-follow-up-study-based-on-maternal-and-newborn-s-health-monitoring-system
#3
Aiqun Huang, Keye Wu, Wei Zhao, Huanqing Hu, Qi Yang, Dafang Chen
OBJECTIVE: to evaluate the independent association between attendance at prenatal care and adverse birth outcomes in China, measured either as the occurrence of preterm birth or low birth weight. DESIGN: a follow-up study. SETTING: the data was collected from maternal and newborn's health monitoring system at 6 provinces in China. PARTICIPANTS: all pregnant women registered in the system at their first prenatal care visit...
November 13, 2017: Midwifery
https://www.readbyqxmd.com/read/29144536/isolation-and-whole-genome-sequencing-of-fetal-cells-from-maternal-blood-towards-the-ultimate-non-invasive-prenatal-testing
#4
Fang Chen, Ping Liu, Ying Gu, Zhu Zhu, Amulya Nanisetti, Zhangzhang Lan, Zhiwei Huang, Sophie Jia Liu, Xiongbin Kang, Yuqing Deng, Liqiong Luo, Dan Jiang, Yong Qiu, Jianchang Pan, Jun Xia, Ken Xiong, Chao Liu, Lin Xie, Qianyu Shi, Jing Li, Xiuqing Zhang, Wei Wang, Snezana Drmanac, Hui Jiang, Radoje Drmanac, Xun Xu
OBJECTIVE: To develop a methodology of isolating fetal cells from maternal blood and use deep sequencing demonstrating the promise for more complete and accurate genetic screening compared to other non-invasive prenatal testing (NIPT). METHODS: Here in this study, we developed a double negative selection (DNS) procedure to unbiasedly enrich fetal cells. After validated by short tandem repeat (STR), the isolated CFCs were subjected to deep whole genome sequencing analysis (WGS)...
November 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29139646/physical-fitness-and-digit-ratio-2d-4d-in-male-students-from-wroc%C3%A5-aw-poland
#5
Slawomir Koziel, Marek Kociuba Mail, Raja Chakraborty, Zofia Ignasiak
There is sex-difference in humans as regards aerobic efficiency, physical strength and endurance and the sex difference is greatly dependent upon differential concentration of testosterone during different phases of growth and development including the intrauterine phase or prenatal growth. Second-to-fourth digit lengths ratio (2D:4D) is an putative indicator of prenatal testosterone exposure. Lower 2D:4D indicates higher prenatal testosterone exposure and vice versa. Males generally have lower 2D:4D than females...
March 2017: Collegium Antropologicum
https://www.readbyqxmd.com/read/29138256/low-neonatal-plasma-n-6-n-3-pufa-ratios-regulate-offspring-adipogenic-potential-and-condition-adult-obesity-resistance
#6
Michael C Rudolph, Matthew R Jackman, David M Presby, Julie A Houck, Patricia G Webb, Ginger C Johnson, Taylor K Soderborg, Becky A de la Houssaye, Ivana V Yang, Jacob E Friedman, Paul S MacLean
Adipose tissue expansion (ATE) progresses rapidly during postnatal life, influenced by both prenatal maternal factors and postnatal developmental cues. The ratio of n-6 relative to n-3 polyunsaturated fatty acids (PUFA) is thought to regulate perinatal adipogenesis, but the cellular mechanisms and long-term effects are not well understood. We lowered the fetal and postnatal n-6/n-3 PUFA ratio exposure in wildtype offspring, under standard maternal dietary fat amounts, to test effects of low n-6/n-3 ratios on offspring adipogenesis and adipogenic potential...
November 14, 2017: Diabetes
https://www.readbyqxmd.com/read/29136274/diagnostic-accuracy-of-magnetic-resonance-imaging-in-detecting-the-severity-of-abnormal-invasive-placenta-a-systematic-review-and-meta-analysis
#7
Alessandra Familiari, Marco Liberati, Philip Lim, Giorgio Pagani, Giuseppe Cali, Danilo Buca, Lamberto Manzoli, Maria Elena Flacco, Giovanni Scambia, Francesco D'Antonio
Accurate prenatal diagnosis of abnormally invasive placenta (AIP) is fundamental because it significantly reduces maternal morbidities MATERIAL AND METHODS: Medline, Embase, CINAHL and The Cochrane databases were searched. The primary aim of the present review was to elucidate the diagnostic accuracy of prenatal magnetic resonance imaging (MRI) in recognizing the severity of AIP, defined as the depth and topography of invasion. The secondary aim was to ascertain the strength of association between each MRI sign and the depth of placental invasion and to test their individual predictive accuracy in detecting such invasion...
November 14, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/29132937/arsenic-exposure-during-embryonic-development-alters-the-expression-of-the-long-noncoding-rna-growth-arrest-specific-5-gas5-in-a-sex-dependent-manner
#8
Kevin K Caldwell, Alexander Hafez, Elizabeth Solomon, Matthew Cunningham, Andrea M Allan
Our previous studies suggest that prenatal arsenic exposure (50ppb) modifies epigenetic control of the programming of the glucocorticoid receptor (GR) signaling system in the developing mouse brain. These deficits may lead to long-lasting consequences, including deficits in learning and memory, increased depressive-like behaviors, and an altered set-point of GR feedback throughout life. To understand the arsenic-induced changes within the GR system, we assessed the impact of in utero arsenic exposure on the levels of the GR and growth arrest-specific-5 (Gas5), a noncoding RNA, across a key gestational period for GR programming (gestational days, GD 14-18) in mice...
November 10, 2017: Neurotoxicology and Teratology
https://www.readbyqxmd.com/read/29132462/-familial-male-limited-precocious-puberty-due-to-asp578his-mutations-in-the-lhcgr-gene-clinical-characteristics-and-gene-analysis-in-an-infant
#9
Min Wang, Min Li, Yue-Sheng Liu, Si-Min Lei, Yan-Feng Xiao
The aim of the study was to provide a descriptive analysis of familial male-limited precocious puberty (FMPP), which is a rare inherited disease caused by heterozygous constitutively activating mutations of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR). The patient was a ten-month-old boy, presenting with penile enlargement, pubic hair formation, and spontaneous erections. Based on the clinical manifestations and laboratory data, including sexual characteristics, serum testosterone levels, GnRH stimulation test, and bone age, this boy was diagnosed with peripheral precocious puberty...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29131922/prenatal-and-postnatal-genetic-testing-why-how-and-when
#10
Joan M Stoler
There have been major advances in genetic testing especially over the last 10 years. We have advanced from looking at simple chromosomes under a microscope to more sophisticated analysis of the DNA makeup of chromosomes and from testing a single gene to sequencing almost all of our genetic material. Similarly, in the field of prenatal testing we have made great strides in screening and diagnostic testing in the hope of detecting significant abnormalities in the fetus while decreasing the risk to the pregnancy...
November 1, 2017: Pediatric Annals
https://www.readbyqxmd.com/read/29131362/sex-discordance-identification-following-non-invasive-prenatal-testing
#11
Ebony J Richardson, Fergus P Scott, Andrew C McLennan
OBJECTIVE: To characterize genotype-phenotype discordance identified in the routine clinical setting, and explore the associated diagnostic and counseling challenges. METHOD: Cases were derived from a cohort of pregnant women who attended a multi-site specialist prenatal screening and ultrasound service for non-invasive prenatal testing by cell-free DNA analysis and mid-trimester fetal morphology assessment. RESULTS: Seven cases of genotype-phenotype discordance were identified from a cohort of 12,919 women between June 2013 - March 2017 (incidence 1/1845 pregnancies)...
November 13, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29131052/prenatal-screening-for-22q11-2-deletion-using-a-targeted-microarray-based-cell-free-dna-test
#12
Maximilian Schmid, Eric Wang, Patrick E Bogard, Elisa Bevilacqua, Coleen Hacker, Susie Wang, Jigna Doshi, Karen White, Jennifer Kaplan, Andrew Sparks, Jacques C Jani, Renee Stokowski
OBJECTIVE: To determine the performance of a targeted microarray-based cell-free DNA (cfDNA) test (Harmony Prenatal Test®) for the identification of pregnancies at increased risk for 22q11.2 deletion. METHODS: Test performance was determined in 2 steps including a total of 1,953 plasma samples. Analytical validation was performed in 1,736 plasma samples. Clinical verification of performance was performed in an additional 217 prospectively ascertained samples from pregnancies with fetal deletion status determined by diagnostic testing...
November 8, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29128872/prenatal-kynurenine-treatment-in-rats-causes-schizophrenia-like-broad-monitoring-deficits-in-adulthood
#13
Britta Hahn, Carolyn H Reneski, Ana Pocivavsek, Robert Schwarcz
RATIONALE: Elevated brain kynurenic acid (KYNA) levels are implicated in the pathology and neurodevelopmental pathogenesis of schizophrenia. In rats, embryonic treatment with kynurenine (EKyn) causes elevated brain KYNA levels in adulthood and cognitive deficits reminiscent of schizophrenia. OBJECTIVES: Growing evidence suggests that people with schizophrenia have a narrowed attentional focus, and we aimed at establishing whether these abnormalities may be related to KYNA dysregulation...
November 11, 2017: Psychopharmacology
https://www.readbyqxmd.com/read/29128521/prenatal-chromosomal-microarray-analysis-in-fetuses-with-congenital-heart-disease-a-prospective-cohort-study
#14
Yan Wang, Li Cao, Dong Liang, Lulu Meng, Yun Wu, Fengchang Qiao, Xiuqing Ji, Chunyu Luo, Jingjing Zhang, Tianhui Xu, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Ping Hu, Zhengfeng Xu
BACKGROUD: Currently, chromosomal microarray analysis is considered as the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of CMA for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. OBJECTIVE: Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. STUDY DESIGN: In this prospective study, 602 prenatal cases of congenital heart disease were investigated using SNP array over a 5-year period...
November 8, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29126190/early-life-exposure-to-china-s-1959-61-famine-and-midlife-cognition
#15
Hongwei Xu, Zhenmei Zhang, Lydia Li, Jinyu Liu
Background: Existing studies of the 1944-45 Dutch famine found little evidence of the association between early life malnutrition and midlife cognition. Methods: Among 2446 rural participants born between 1958 and 1963 in the China Health and Retirement Longitudinal Study, we examined effects of exposure to China's 1959-61 Great Leap Forward famine during prenatal and early postnatal life, on four cognitive measures in 2011 (baseline) and changes in cognition between 2011 and 2013 (first follow-up)...
November 7, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29126132/cost-effective-and-accurate-method-of-measuring-fetal-fraction-using-snp-imputation
#16
Minjeong Kim, Jai-Hoon Kim, Kangseok Kim, Sunshin Kim
Motivation: With the discovery of cell-free fetal DNA in maternal blood, the demand for non-invasive prenatal testing (NIPT) has been increasing. To obtain reliable NIPT results, it is important to accurately estimate the fetal fraction. In this study, we propose an accurate and cost-effective method for measuring fetal fractions using single-nucleotide polymorphisms (SNPs). Results: A total of 84 samples were sequenced via semiconductor sequencing using a 0.3x sequencing coverage...
November 8, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29125674/women-s-preference-for-non-invasive-prenatal-dna-testing-nipt-versus-chromosomal-microarray-after-screening-for-down-syndrome-a-prospective-study
#17
Yvonne Kwun Yue Cheng, Wing Cheong Leung, Tak Yeung Leung, Kwong Wai Choy, Rossa Wai Kwun Chiu, Tsz-Kin Lo, Ka Yin Kwok, Daljit Singh Sahota
OBJECTIVE: To examine preference for follow-up test in women screened high or intermediate risk in 1(st) or 2(nd) trimester Down syndrome screening. DESIGN: Prospective cohort study. SETTING: Three public hospitals in Hong Kong, China. SAMPLE: Women with term high risk ≥ 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). METHODS: Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing...
November 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#18
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29124982/pre-gestational-thalassemia-screening-in-mainland-china-the-first-two-years-of-a-preventive-program
#19
Fan Jiang, Gui-Lan Chen, Jian Li, Xing-Mei Xie, Jian-Ying Zhou, Can Liao, Dong-Zhi Li
In this study, we report the experience of a pre gestational thalassemia screening program at a single center in Southern China. Free thalassemia screening, genetic counseling and prenatal diagnosis (PND) for couples planning pregnancy were implemented over a 2-year period. Among a total of 83,062 screened individuals (41,531 couples), the allele frequencies of β-thalassemia (β-thal), - -(SEA) and - -(THAI) deletions were 3.79, 5.75 and 0.028%, respectively. Out of the 41,531 couples, 11,039 couples had at least one partner who had a positive screening test; of these, 455 at-risk couples (1...
November 10, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29122798/impact-of-prenatal-diagnosis-on-survival-of-newborns-with-four-congenital-heart-defects-a-prospective-population-based-cohort-study-in-france-the-epicard-study
#20
Babak Khoshnood, Nathalie Lelong, Lucile Houyel, Damien Bonnet, Morgane Ballon, Jean-Marie Jouannic, François Goffinet
OBJECTIVES: (1) Assess the population-level probability of prenatal diagnosis and termination of pregnancy for fetal anomaly for four major congenital heart defects; (2) Examine, using population-based data, the relation between timing of (prenatal vs postnatal) diagnosis and risk of infant (ie, < 1 year) mortality for four major congenital heart defects (CHDs). DESIGN: Population-based cohort (the EPIdémiologie des CARDiopathies congénitales) study. SETTING: Greater Paris area (Paris and its surrounding suburbs)...
November 8, 2017: BMJ Open
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