keyword
MENU ▼
Read by QxMD icon Read
search

non-invasive prenatal

keyword
https://www.readbyqxmd.com/read/29769050/why-do-patients-decline-amniocentesis-analysis-of-factors-influencing-the-decision-to-refuse-invasive-prenatal-testing
#1
Pawel Sadlecki, Marek Grabiec, Pawel Walentowicz, Malgorzata Walentowicz-Sadlecka
BACKGROUND: In recent years, determination of personalized risk for fetal chromosomal anomalies emerged as an important component of prenatal genetic counseling. Women in whom fetal risk for chromosomal aberrations is elevated are offered further testing. The aim of this study was to identify factors that may influence the decision to refuse invasive prenatal testing aimed at determination of fetal karyotype in a group of patients at increased risk of trisomy 21. METHODS: The analysis included 177 patients with singleton pregnancy, whose personalized risk score for trisomy 21 calculated on the basis of the combined test exceeded 1:300...
May 16, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29766818/cell-free-fetal-dna-a-novel-biomarker-for-early-prediction-of-pre-eclampsia-and-other-obstetric-complications
#2
Naina Kumar, Amit Kant Singh
Hypertensive disorder of pregnancy, especially Pre-eclampsia is one of the major causes of increased maternal and perinatal morbidity and mortality all over the world. Early prediction of pre-eclampsia is the need of modern obstetrics, as this can timely prevent the progress of disease as well as related fetal and maternal morbidity and mortality. In addition to the screening of fetal aneuploidies, Rhesus-D status, fetal sex, single gene disorders, the cell-free fetal Deoxyribonucleic acid (DNA) quantification has emerged out as a promising biomarker for prediction of pre-eclampsia...
May 16, 2018: Current Hypertension Reviews
https://www.readbyqxmd.com/read/29757138/prenatal-non-invasive-foetal-rhd-genotyping-diagnostic-accuracy-of-a-test-as-a-guide-for-appropriate-administration-of-antenatal-anti-d-immunoprophylaxis
#3
Silvia Manfroi, Chiara Calisesi, Pietro Fagiani, Annalisa Gabriele, Gianluca Lodi, Simonetta Nucci, Susanna Pelliconi, Laura Righini, Vanda Randi
BACKGROUND: Foetal RHD genotyping can be predicted by real-time polymerase chain reaction (qPCR) using cell-free foetal DNA extracted from maternal plasma. The object of this study was to determine the diagnostic accuracy and feasibility of non-invasive RHD foetal genotyping, using a commercial multiple-exon assay, as a guide to appropriate administration of targeted antenatal immunoprophylaxis. MATERIAL AND METHODS: Cell-free foetal DNA was extracted from plasma of RhD-negative women between 11-30 weeks of pregnancy...
April 9, 2018: Blood Transfusion, Trasfusione del Sangue
https://www.readbyqxmd.com/read/29740884/bovine-foetal-sex-determination-different-dna-extraction-and-amplification-approaches-for-efficient-livestock-production
#4
M Ristanic, Lj Stanisic, M Maletic, U Glavinic, V Draskovic, N Aleksic, Z Stanimirovic
Foetal sex determination using polymerase chain reaction (PCR) in mammals is based on the amplification of gender-specific foetal DNA sequences circulating in maternal blood. The bovine synepitheliochorial placenta does not allow a direct contact between the trophoblast and the maternal blood, resulting in difficult passage of foetal DNA and, consequently, its very small amounts in maternal bloodstream. Circulating cell-free foetal DNA (ccffDNA) encompasses short nucleotide fragments (300-600 bp) in maternal circulation...
May 8, 2018: Reproduction in Domestic Animals, Zuchthygiene
https://www.readbyqxmd.com/read/29727842/concentrations-of-organochlorine-pesticides-in-cord-serum-of-newborns-in-wuhan-china
#5
Jing Fang, Hongxiu Liu, Hongzhi Zhao, Shunqing Xu, Zongwei Cai
Organochlorine pesticides (OCPs) had been widely used in China before they were banned decades ago due to the concern of the toxicology to human. Previous reports showed that OCPs were still often detectable in human bodies. However, there is limited study concerning the body burden of OCPs in infants and fetus in China. In this study, the prenatal exposure to OCPs was evaluated by measuring OCPs in cord serum. A total of 1046 cord serum samples were collected in Wuhan during 2014 and 2015, and analyzed for the concentrations of hexachlorocyclohexanes (HCHs), dichlorodiphenyltrichloroethanes (DDTs), dichlorodiphenyldichloroethanes (DDDs) and dichlorodiphenyldichloroethylenes (DDEs) by using gas chromatography-tandem mass spectrometry (GC-MS/MS)...
May 1, 2018: Science of the Total Environment
https://www.readbyqxmd.com/read/29704636/decreased-microglial-numbers-in-vav1-cre-dicer-knock-out-mice-suggest-a-second-source-of-microglia-beyond-yolk-sac-macrophages
#6
M K Fehrenbach, M Tjwa, I Bechmann, M Krueger
Microglia represent the resident macrophages of the central nervous system (CNS). While it is clear that microglia recruitment is established by differentiation of primitive yolk sac (YS) macrophages and consecutive invasion of the brain, starting around E8 in rodents (Ginhoux et al., 2010), more recent studies suggest that a non-YS contribution to the microglia population should not entirely be dismissed (Swinnen et al., 2013; Xu et al., 2015). Therefore, we used Vav1-Cre+ :dicer knock-out mice in order to study the effect of the post-YS hematopoiesis on the definitive microglial population in late prenatal (E16...
April 25, 2018: Annals of Anatomy, Anatomischer Anzeiger: Official Organ of the Anatomische Gesellschaft
https://www.readbyqxmd.com/read/29700947/fetal-rhd-genotyping-is-a-cost-effective-option-for-supporting-targeted-anti-d-prophylaxis-in-d-negative-pregnancies
#7
Shubha Allard, Edwin Massey
The prevalence of D negativity varies considerably between different ethnic groups and this in turn influences the risk of a D negative mother carrying a D positive baby. In England it has been estimated that nearly 40% of D negative women will be carrying a D negative fetus and accordingly do not require anti D prophylaxis. The availability of high-throughput non-invasive prenatal testing (HT NIPT) for the fetal RHD genotype allows such women to avoid unnecessary treatment with anti-D immunoglobulin and in 2016...
April 26, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29695408/ethics-of-routine-a-critical-analysis-of-the-concept-of-routinisation-in-prenatal-screening
#8
Adriana Kater-Kuipers, Inez D de Beaufort, Robert-Jan H Galjaard, Eline M Bunnik
In the debate surrounding the introduction of non-invasive prenatal testing (NIPT) in prenatal screening programmes, the concept of routinisation is often used to refer to concerns and potential negative consequences of the test. A literature analysis shows that routinisation has many different meanings, which can be distinguished in three major versions of the concept. Each of these versions comprises several inter-related fears and concerns regarding prenatal screening and particularly regarding NIPT in three areas: (1) informed choice, (2) freedom to choose and (3) consequences for people with a disability...
April 25, 2018: Journal of Medical Ethics
https://www.readbyqxmd.com/read/29683524/fetal-sex-determination-in-twin-pregnancies-using-cell-free-fetal-dna-analysis
#9
Miguel Milan, Emilia Mateu, David Blesa, Monica Clemente-Ciscar, Carlos Simon
OBJECTIVE(S): We sought to develop an accurate sex classification method in twin pregnancies using data obtained from a standard commercial non-invasive prenatal test. STUDY DESIGN: A total of 706 twin pregnancies were included in this retrospective analytical data study. Normalized chromosome values for chromosomes X and Y were used and adapted into a sex-score to predict fetal sex in each fetus and results were compared to the clinical outcome at birth. RESULTS: Outcome information at birth for sex chromosomes was available for 232 twin pregnancies...
April 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29676188/is-carriership-of-a-balanced-translocation-or-inversion-an-indication-for-non-invasive-prenatal-testing
#10
Malgorzata I Srebniak, Ida Vogel, Diane Van Opstal
No abstract text is available yet for this article.
April 20, 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29661182/women-s-perspectives-on-the-ethical-implications-of-non-invasive-prenatal-testing-a-qualitative-analysis-to-inform-health-policy-decisions
#11
Meredith Vanstone, Alexandra Cernat, Jeff Nisker, Lisa Schwartz
BACKGROUND: Non-Invasive Prenatal Testing (NIPT) is a technology which provides information about fetal genetic characteristics (including sex) very early in pregnancy by examining fetal DNA obtained from a sample of maternal blood. NIPT is a morally complex technology that has advanced quickly to market with a strong push from industry developers, leaving many areas of uncertainty still to be resolved, and creating a strong need for health policy that reflects women's social and ethical values...
April 16, 2018: BMC Medical Ethics
https://www.readbyqxmd.com/read/29652997/-application-of-droplet-digital-pcr-for-non-invasive-prenatal-diagnosis-of-single-gene-disease-in-two-families
#12
Peiwen Xu, Yang Zou, Jie Li, Sexin Huang, Ming Gao, Ranran Kang, Hongqiang Xie, Lijuan Wang, Junhao Yan, Yuan Gao
OBJECTIVE: To assess the value of droplet digital PCR (ddPCR) for non-invasive prenatal diagnosis of single gene disease in two families. METHODS: Paternal mutation in cell-free DNA derived from the maternal blood and amniotic fluid DNA was detected by ddPCR. Suspected mutation in the amniotic fluid DNA was verified with Sanger sequencing. RESULTS: The result of ddPCR and Sanger sequencing indicated that the fetuses have carried pathogenic mutations from the paternal side in both families...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29626747/non-invasive-prenatal-paternity-testing-using-cell-free-fetal-dna-from-maternal-plasma-dna-isolation-and-genetic-marker-studies
#13
REVIEW
Shanshan Zhang, Shuyi Han, Maoxiu Zhang, Yunshan Wang
Invasive prenatal paternity tests can result in miscarriage and congenital malformations; therefore, a non-invasive method of testing is preferable. However, little progress could be made in this field until the introduction of cell-free fetal DNA (cffDNA) in 2009. In this review, two aspects regarding the history and development of non-invasive prenatal paternity testing (NIPAT) are summarized: (1) extraction and enrichment of cffDNA and (2) genetic marker-based studies. Although column-based kits are used widely for NIPAT, some researchers have suggested that an automated method, such as magnetic extraction, generally has a higher cffDNA yield than that of manual column-based extraction; therefore, its popularity might increase in the near future...
April 1, 2018: Legal Medicine
https://www.readbyqxmd.com/read/29626711/non-invasive-prenatal-diagnosis-of-fetal-aneuploidy-using-cell-free-fetal-dna
#14
REVIEW
Barbara Renga
The discovery of cell free fetal DNA in maternal plasma has stimulated a rapid development of non-invasive prenatal testing. The recent advent of massively parallel sequencing has allowed the analysis of circulating cell-free fetal DNA to be performed with unprecedented sensitivity and precision. It is thus expected that plasma DNA-based non invasive prenatal testing will play an increasingly important role in the future of obstetric care. The present review summarizes recent advances in non invasive prenatal testing using cell free fetal DNA...
March 20, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29618827/niptmer-rapid-k-mer-based-software-package-for-detection-of-fetal-aneuploidies
#15
Martin Sauk, Olga Žilina, Ants Kurg, Eva-Liina Ustav, Maire Peters, Priit Paluoja, Anne Mari Roost, Hindrek Teder, Priit Palta, Nathalie Brison, Joris R Vermeesch, Kaarel Krjutškov, Andres Salumets, Lauris Kaplinski
Non-invasive prenatal testing (NIPT) is a recent and rapidly evolving method for detecting genetic lesions, such as aneuploidies, of a fetus. However, there is a need for faster and cheaper laboratory and analysis methods to make NIPT more widely accessible. We have developed a novel software package for detection of fetal aneuploidies from next-generation low-coverage whole genome sequencing data. Our tool - NIPTmer - is based on counting pre-defined per-chromosome sets of unique k-mers from raw sequencing data, and applying linear regression model on the counts...
April 4, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29616835/lessons-learned-from-the-implementation-of-non-invasive-fetal-rhd-screening
#16
Frederik Banch Clausen
In the fight against hemolytic disease of the fetus and newborn, pregnant RhD negative women are offered antenatal and postnatal anti-D immunoglobulin prophylaxis to prevent the development of antibodies against the fetal D antigen. Antenatal prophylaxis has traditionally been provided to all D negative pregnant women, as the fetal RhD type remains unknown until birth. With noninvasive prenatal testing of cell-free DNA, predicting the fetal RhD type has become highly feasible based on analysis of the fetal RHD gene...
April 19, 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29613853/non-invasive-prenatal-diagnosis-of-paternally-inherited-disorders-from-maternal-plasma-detection-of-nf1-and-cftr-mutations-using-droplet-digital-pcr
#17
Aurélia Gruber, Mathilde Pacault, Laila Allach El Khattabi, Nicolas Vaucouleur, Lucie Orhant, Thierry Bienvenu, Emmanuelle Girodon, Dominique Vidaud, France Leturcq, Catherine Costa, Franck Letourneur, Olivia Anselem, Vassilis Tsatsaris, François Goffinet, Géraldine Viot, Michel Vidaud, Juliette Nectoux
BACKGROUND: To limit risks of miscarriages associated with invasive procedures of current prenatal diagnosis practice, we aim to develop a personalized medicine-based protocol for non-invasive prenatal diagnosis (NIPD) of monogenic disorders relying on the detection of paternally inherited mutations in maternal blood using droplet digital PCR (ddPCR). METHODS: This study included four couples at risk of transmitting paternal neurofibromatosis type 1 (NF1) mutations and four couples at risk of transmitting compound heterozygous CFTR mutations...
April 25, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29609112/hair-cortisol-concentration-hcc-as-a-measure-for-prenatal-psychological-distress-a-systematic-review
#18
REVIEW
Paula Mustonen, Linnea Karlsson, Noora M Scheinin, Susanna Kortesluoma, Bárbara Coimbra, Ana João Rodrigues, Hasse Karlsson
Prenatal environment reportedly affects the programming of developmental trajectories in offspring and the modification of risks for later morbidity. Among the increasingly studied prenatal exposures are maternal psychological distress (PD) and altered maternal hypothalamus-pituitary-adrenal (HPA) axis functioning. Both prenatal PD and maternal short-term cortisol concentrations as markers for HPA axis activity have been linked to adverse child outcomes and it has been assumed that maternal PD affects the offspring partially via altered cortisol secretion patterns...
March 27, 2018: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29608700/trophoblast-retrieval-and-isolation-from-the-cervix-origins-of-cervical-trophoblasts-and-their-potential-value-for-risk-assessment-of-ongoing-pregnancies
#19
Gerit Moser, Sascha Drewlo, Berthold Huppertz, D Randall Armant
BACKGROUND: Early during human development, the trophoblast lineage differentiates to commence placentation. Where the placenta contacts the uterine decidua, extravillous trophoblast (EVT) cells differentiate and invade maternal tissues. EVT cells, identified by expression of HLA-G, invade into uterine blood vessels (endovascular EVT), as well as glands (endoglandular EVT), and open such luminal structures towards the intervillous space of the placenta. Endoglandular invasion diverts the contents of uterine glands to the intervillous space, while glands near the margin of the placenta that also contain endoglandular EVT cells open into the reproductive tract...
March 28, 2018: Human Reproduction Update
https://www.readbyqxmd.com/read/29605711/fetal-cell-free-dna-fraction-in-maternal-plasma-for-the-prediction-of-hypertensive-disorders-of-pregnancy
#20
Nobuhiro Suzumori, Akihiko Sekizawa, Takeshi Ebara, Osamu Samura, Aiko Sasaki, Rina Akaishi, Seiji Wada, Haruka Hamanoue, Fumiki Hirahara, Haruna Izumi, Hideaki Sawai, Hiroaki Nakamura, Takahiro Yamada, Kiyonori Miura, Hideaki Masuzaki, Takahiro Yamashita, Takashi Okai, Yoshimasa Kamei, Akira Namba, Jun Murotsuki, Tomohiro Tanemoto, Akimune Fukushima, Kazufumi Haino, Shinya Tairaku, Keiichi Matsubara, Kazutoshi Maeda, Takashi Kaji, Masanobu Ogawa, Hisao Osada, Haruki Nishizawa, Yoko Okamoto, Takeshi Kanagawa, Aiko Kakigano, Michihiro Kitagawa, Masaki Ogawa, Shunichiro Izumi, Yukiko Katagiri, Naoki Takeshita, Yasuyo Kasai, Katsuhiko Naruse, Reiko Neki, Hisashi Masuyama, Maki Hyodo, Yukie Kawano, Takashi Ohba, Kiyotake Ichizuka, Takeshi Nagamatsu, Atsushi Watanabe, Nahoko Shirato, Junko Yotsumoto, Miyuki Nishiyama, Tatsuko Hirose, Haruhiko Sago
OBJECTIVE: The purpose of this study is to compare the fetal fractions during non-invasive prenatal testing (NIPT) in singleton pregnancies according to gestational age and maternal characteristics to evaluate the utility of this parameter for the prediction of pregnancy complications including gestational diabetes mellitus (GDM) and hypertensive disorders of pregnancy (HDP). STUDY DESIGN: This study was a multicenter prospective cohort study. The present data were collected from women whose NIPT results were negative...
May 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
keyword
keyword
18672
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"