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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/29757138/prenatal-non-invasive-foetal-rhd-genotyping-diagnostic-accuracy-of-a-test-as-a-guide-for-appropriate-administration-of-antenatal-anti-d-immunoprophylaxis
#2
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/29745012/clinical-results-after-the-implementation-of-cell-free-fetal-dna-detection-in-maternal-plasma
#3
Cristina Martínez-Payo, Isabel Bada-Bosch, María Martínez-Moya, Tirso Pérez-Medina
AIM: Detection of cell-free fetal DNA in maternal blood is a type of noninvasive prenatal diagnosis test (NIPT), which has already been known for some time but has not yet been introduced in most of public hospitals in Spain. How the implementation of cell-free fetal DNA (cffDNA) in a contingent protocol has influenced the aneuploidy screening in our hospital is described. METHODS: Two cohorts of patients with positive combined screening were compared: the first one (years 2012-2013, 5747 patients) from a period of time in which the protocol valid until March 2016 - that included the use of invasive procedures - was applied; and the second one in which the current protocol - that included NIPT versus invasive procedures - was applied (first 7 months after protocol implementation, 898 patients)...
May 10, 2018: Journal of Obstetrics and Gynaecology Research
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/29726320/preferences-for-prenatal-testing-among-pregnant-women-partners-and-health-professionals
#5
Ida Charlotte Bay Lund, Naja Becher, Olav Bjørn Petersen, Melissa Hill, Lyn Chitty, Ida Vogel
INTRODUCTION: Cell-free DNA testing (cfDNA testing) in maternal plasma has recently been implemented in Danish healthcare. Prior to that we wanted to evaluate the preferences among pregnant women, partners and health professionals regarding cfDNA testing compared with invasive prenatal diagnostics. METHODS: Responders were recruited at public hospitals in the Central and North Denmark Regions. Stated preferences for prenatal testing were obtained through an online questionnaire incorporating a discrete choice experiment...
May 2018: Danish Medical Journal
https://www.readbyqxmd.com/read/29700947/fetal-rhd-genotyping-is-a-cost-effective-option-for-supporting-targeted-anti-d-prophylaxis-in-d-negative-pregnancies
#6
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
#7
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
#8
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
#9
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/29666952/utility-of-diffusion-weighted-mr-imaging-in-the-diagnosis-of-placenta-accreta-spectrum-abnormality
#10
Bhagya Sannananja, Anna Ellermeier, Daniel S Hippe, Thomas C Winter, Stella K Kang, Susanna I Lee, Mark R Kilgore, Manjiri K Dighe
PURPOSE: The aim of this study was to evaluate the utility of added DWI sequences as an adjunct to traditional MR imaging in the evaluation of abnormal placentation in patients with suspicion for placenta accreta spectrum abnormality or morbidly adherent placenta (MAP). MATERIALS AND METHODS: The study was approved by local ethics committee. The subjects included pregnant women with prenatal MRI performed between July 2013 to July 2015. All imaging was performed on a Philips 1...
April 17, 2018: Abdominal Radiology
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/29626747/non-invasive-prenatal-paternity-testing-using-cell-free-fetal-dna-from-maternal-plasma-dna-isolation-and-genetic-marker-studies
#12
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
#13
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/29626710/prenatal-diagnosis-of-wolf-hirschhorn-syndrome-ultrasonography-and-molecular-karyotyping-results
#14
Li Zhen, Shu-Shu Fan, Lv-Yin Huang, Min Pan, Jin Han, Xin Yang, Dong-Zhi Li
OBJECTIVE: To present the experience on prenatal diagnosis of Wolf-Hirschhorn syndrome (WHS) to further delineate the fetal presentation of this syndrome. STUDY DESIGN: This was a retrospective analysis of ten pregnancies with fetal WHS identified by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal demographics, indications for invasive testing, sonographic findings, CMA results and pregnancy outcomes. RESULTS: Three cases were diagnosed at the first trimester because of an increased NT or cystic hygroma...
March 31, 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/29608700/trophoblast-retrieval-and-isolation-from-the-cervix-origins-of-cervical-trophoblasts-and-their-potential-value-for-risk-assessment-of-ongoing-pregnancies
#17
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
#18
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
https://www.readbyqxmd.com/read/29595812/rapid-prenatal-diagnosis-using-targeted-exome-sequencing-a-cohort-study-to-assess-feasibility-and-potential-impact-on-prenatal-counseling-and-pregnancy-management
#19
Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S Chitty
PurposeUnexpected fetal abnormalities occur in 2-5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and pregnancy management. Postnatally exome sequencing yields high diagnostic rates, but relies on careful phenotyping to interpret genotype results. Here we used a multidisciplinary approach to explore the utility of rapid fetal exome sequencing for prenatal diagnosis using skeletal dysplasias as an exemplar...
March 29, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29595011/-incidental-findings-of-maternal-genetic-abnormalities-during-non-invasive-prenatal-screening
#20
F Léonard, Renaud Gueben, Robin Gueben, B Grisart, C Van Linthout
The non-invasive prenatal test (NIPT) has recently been added in our clinical practice. Sensitivity and specificity of this method in the common fetal aneuploidies screening is about 99 %. This technique remains a screening test, not a diagnosis test, because false positive or negative results exist. The discordant results are explained by the method itself witch analyses the whole free circulating DNA in the maternal blood: the fetal DNA from trophoblastic cells lysing but also the maternal DNA. Placenta confined mosaic is the main false positive cause reported in the literature...
March 2018: Revue Médicale de Liège
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