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Screening of aneuploidies

Jose Carlos P Ferreira, Francesca R Grati, Komal Bajaj, Francesca Malvestiti, Maria Beatrice Grimi, Anna Trotta, Rosaria Liuti, Silvia Milani, Lara Branca, Jacob Hartman, Federico Maggi, Giuseppe Simoni, Susan J Gross
OBJECTIVES: No previous studies have reported the frequencies of individual chromosomal anomalies in normal-appearing fetuses stratified by maternal age (MA) and gestational age (GA). We therefore sought to (1) characterize the frequency of all fetal karyotype anomalies in sonographically normal appearing fetuses without pretest risk factors, and (2) assess MA and GA impact on the proportion of anomalies targeted by screening and consequent impact on residual risk following a negative result...
October 21, 2016: Prenatal Diagnosis
N Aleksandrova, E Shubina, A Ekimov, T Kodyleva, I Mukosey, N Makarova, E Kulakova, L Levkov, D Trofimov, G Sukhikh
Chromosomal aneuploidies are known for being the main cause of abnormal development of embryos with normal morphology, their implantation failure and early reproductive losses in IVF treatments. Preimplantation genetic screening (PGS) allows selecting embryos with normal chromosomal content and increases IVF treatment efficiency due to higher implantation rates and less frequent early pregnancy losses. New technologies used for PGS allow making genome-wide analysis of the presence of all chromosomes in embryos...
October 2016: Gynecological Endocrinology
Joel B Krier, Sarah S Kalia, Robert C Green
The development of massively parallel sequencing (or next-generation sequencing) has facilitated a rapid implementation of genomic sequencing in clinical medicine. Genomic sequencing (GS) is now an essential tool for evaluating rare disorders, identifying therapeutic targets in neoplasms, and screening for prenatal aneuploidy. Emerging applications, such as GS for preconception carrier screening and predisposition screening in healthy individuals, are being explored in research settings and utilized by members of the public eager to incorporate genomic information into their health management...
September 2016: Dialogues in Clinical Neuroscience
Jelena Belic, Marina Koch, Peter Ulz, Martina Auer, Teresa Gerhalter, Sumitra Mohan, Katja Fischereder, Edgar Petru, Thomas Bauernhofer, Jochen B Geigl, Michael R Speicher, Ellen Heitzer
Recent progress in the analysis of cell-free DNA fragments (cell-free circulating tumor DNA, ctDNA) now allows monitoring of tumor genomes by non-invasive means. However, previous studies with plasma DNA from patients with cancer demonstrated highly variable allele frequencies of ctDNA. Comprehensive genome-wide analysis of tumor genomes is greatly facilitated when plasma DNA has increased amounts of ctDNA. In order to develop a fast and cost-effective pre-screening method for the identification of plasma samples suitable for further extensive qualitative analysis, we adapted the recently described FAST-SeqS method...
2016: Advances in Experimental Medicine and Biology
Marja Kaijomaa, Veli-Matti Ulander, Esa Hämäläinen, Henrik Alfthan, Helene Markkanen, Seppo Heinonen, Vedran Stefanovic
OBJECTIVE: To analyze the risk of adverse pregnancy outcome in three subgroups with extremely low maternal PAPP-A, i.e. < 0.3 multiples of median (MoM) at the first trimester screening. METHOD: A cohort of 961 pregnancies with PAPP-A levels < 0.3 MoM at the first trimester combined screening was followed up during the study period of January 2009-December 2012. The incidences of adverse outcomes were determined in three subgroups with PAPP-A levels < 0...
October 17, 2016: Prenatal Diagnosis
(no author information available yet)
No abstract text is available yet for this article.
November 2016: American Journal of Medical Genetics. Part A
Rachel V van Schendel, Lieve Page-Christiaens, Lean Beulen, Catia M Bilardo, Marjon A de Boer, Audrey B C Coumans, Brigitte H Faas, Irene M van Langen, Klaske D Lichtenbelt, Merel C van Maarle, Merryn V E Macville, Dick Oepkes, Eva Pajkrt, Lidewij Henneman
OBJECTIVE: To evaluate preferences and decision-making amongst high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing. METHODS: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at increased risk for fetal aneuploidy based on first-trimester combined testing (>1:200) or medical history. A questionnaire was completed after counseling assessing knowledge, attitudes and participation following the Multidimensional Measure of Informed Choice...
October 14, 2016: Prenatal Diagnosis
H Hu, H Liu, C Peng, T Deng, X Fu, C Chung, E Zhang, C Lu, K Zhang, Z Liang, Y Yang
OBJECTIVES: To detect trisomy 21, 18, and 13 in 190,277 clinical samples from the medical diagnostic laboratories of ten hospitals. METHODS: The study assessed the clinical performance of non-invasive prenatal testing (NIPT) in detecting trisomy 21, 18, and 13 in 190,277 clinical samples using semiconductor sequencing technology. RESULTS: NIPT participants were at a mean gestation of 17.79 weeks (range, 9-36) and age of 31.12 years (range, 18-46) at the time of testing in average...
October 13, 2016: Current Molecular Medicine
Melissa Borelli, Rebecca J Baer, Christina D Chambers, Tyler C Smith, Laura L Jelliffe-Pawlowski
We examined the association between maternal characteristics, routinely collected first- and second-trimester biomarkers and the risk of having an infant with a critical congenital heart defect (CCHD). Included were women who participated in the California Prenatal Screening Program who had nuchal translucency (NT) measurement and first- and second-trimester serum screening. All pregnancies ended in a live birth of an infant without aneuploidy or a neural tube defect. Poisson regression analyses were used to estimate the relative risk and 95% confidence interval of a CCHD by maternal characteristics, first- and second-trimester serum biomarkers or NT measurements...
October 14, 2016: American Journal of Medical Genetics. Part A
Wanjun Zhu, Xiao-Yan Zhang, Sadie L Marjani, Jialing Zhang, Wengeng Zhang, Shixiu Wu, Xinghua Pan
Single-cell sequencing (SCS) is a fast-growing, exciting field in genomic medicine. It enables the high-resolution study of cellular heterogeneity, and reveals the molecular basis of complicated systems, which facilitates the identification of new biomarkers for diagnosis and for targeting therapies. It also directly promotes the next generation of genomic medicine because of its ultra-high resolution and sensitivity that allows for the non-invasive and early detection of abnormalities, such as aneuploidy, chromosomal translocation, and single-gene disorders...
October 13, 2016: Cellular and Molecular Life Sciences: CMLS
C N Mnyani, E Nicolaou, S Bister
BACKGROUND: Concerns have been raised about the injudicious use of non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA), which often leads to inaccuracies in interpretation of the role and value of cfDNA in prenatal screening. OBJECTIVES:  To determine the value and role of NIPT in a select South African (SA) population. METHODS:  A retrospective review of patients who elected to have NIPT between 1 October 2013 and 30 June 2015 at the Morningside Mediclinic Maternal and Fetal Medicine Centre in Johannesburg, SA...
September 9, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
Sunshin Kim, HeeJung Jung, Sung Hee Han, SeungJae Lee, JeongSub Kwon, Min Gyun Kim, Hyungsik Chu, Kyudong Han, Hwanjong Kwak, Sunghoon Park, Hee Jae Joo, Minae An, Jungsu Ha, Kyusang Lee, Byung Chul Kim, Hailing Zheng, Xinqiang Zhu, Hongliang Chen, Jong Bhak
BACKGROUND: Noninvasive prenatal testing (NIPT) using massively parallel sequencing of cell-free DNA (cfDNA) is increasingly being used to predict fetal chromosomal abnormalities. However, concerns over erroneous predictions which occur while performing NIPT still exist in pregnant women at high risk for fetal aneuploidy. We performed the largest-scale clinical NIPT study in Korea to date to assess the risk of false negatives and false positives using next-generation sequencing. METHODS: A total of 447 pregnant women at high risk for fetal aneuploidy were enrolled at 12 hospitals in Korea...
October 3, 2016: BMC Medical Genomics
Marie-Claude N Laffitte, Philippe Leprohon, Barbara Papadopoulou, Marc Ouellette
Leishmania has a plastic genome, and drug pressure can select for gene copy number variation (CNV). CNVs can apply either to whole chromosomes, leading to aneuploidy, or to specific genomic regions. For the latter, the amplification of chromosomal regions occurs at the level of homologous direct or inverted repeated sequences leading to extrachromosomal circular or linear amplified DNAs. This ability of Leishmania to respond to drug pressure by CNVs has led to the development of genomic screens such as Cos-Seq, which has the potential of expediting the discovery of drug targets for novel promising drug candidates...
2016: F1000Research
Marsha Michie, Stephanie A Kraft, Mollie A Minear, Roberta R Ryan, Megan A Allyse
OBJECTIVES: The introduction of prenatal cfDNA screening for fetal aneuploidy and other genetic conditions has exacerbated concerns about informed decision-making in clinical prenatal testing. To assess the information provided to patients to facilitate decisions about cfDNA screening, we collected written patient education and consent documents created by laboratories and clinics. METHODS: Informed consent documents (IC) were coded by two independent coders. Each IC was assessed for readability, attention to elements of informed consent, and completeness of information about the test and the screened conditions...
July 2016: Ethics Med Public Health
Stefan C Kane, Elissa Willats, Sammya Bezerra Maia E Holanda Moura, Jonathan Hyett, Fabrício da Silva Costa
Chromosomal aneuploidy is responsible for a significant proportion of pregnancy failures, whether conceived naturally or through in vitro fertilization (IVF). In an effort to improve the success rate of IVF, screening embryos for aneuploidy - or pre-implantation genetic screening (PGS) - has been proposed as a means of ensuring only euploid embryos are selected for transfer. Early PGS approaches were based on fluorescence in situ hybridization testing, and have been shown not to improve live birth rates. Recent developments in genetic testing technologies - such as next-generation sequencing and quantitative polymerase chain reaction, coupled with embryo biopsy at the blastocyst stage - have shown promise in improving IVF outcomes, but they remain to be validated in adequately powered, prospective randomized trials...
September 29, 2016: Fetal Diagnosis and Therapy
Ayşe Filiz Avşar, Elçin İşlek Seçen, Gülin Feykan Yeğin Akçay, Hüseyin Levent Keskin, Emre Erdem Taş, Ahmet Ferit Dalgacı
OBJECTIVE: To investigate the relationship between the development of intrapartum fetal distress and serum pregnancy-associated plasma protein-A (PAPP-A) levels measured during first-trimester aneuploidy screening tests. MATERIAL AND METHODS: This retrospective study included 283 uncomplicated pregnancies that resulted in full-term live births via spontaneous labor or with the induction by oxytocin. Cases were divided into two groups based on whether their first-trimester PAPP-A multiple of the median (MoM) levels were ≤0...
2016: Journal of the Turkish German Gynecological Association
Koumudi Godbole, Aparna Kulkarni, Asawari Kanade, Shilpa Kulkarni, Girish Godbole, Anuradha Wakankar
OBJECTIVE: To find out whether maternal serum screening for fetal chromosomal aneuploidy predicts adverse pregnancy outcomes. METHODS: A two-year retrospective case-control study was conducted at a tertiary hospital. Pregnant women with a high-risk serum screen but with chromosomally normal fetuses (n = 189) were compared to those with low-risk screen (controls, n = 157) for adverse pregnancy outcomes. RESULTS: Women with high-risk double marker or combined screen were found to have higher prevalence of LBW [OR 2...
October 2016: Journal of Obstetrics and Gynaecology of India
E Becker, G Steibel, E V Cunha Filho, J Steibel
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
R D Nerenz
Treatment for many infertile couples often consists of in vitro fertilization (IVF) but an estimated 70% of IVF cycles fail to produce a live birth. In an attempt to improve the live birth rate, the vast majority of IVF cycles performed in the United States involve the transfer of multiple embryos, a practice that increases the risk of multiple gestation pregnancy. This is a concern because multiple gestation pregnancies are associated with an increased incidence of maternal and fetal complications and significant cost associated with the care of preterm infants...
2016: Advances in Clinical Chemistry
A Bouzid, A Ayachi, S Menjli, N Karmous, L Mkaouar, M Mourali
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
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