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Screening of aneuploidies

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https://www.readbyqxmd.com/read/29766818/cell-free-fetal-dna-a-novel-biomarker-for-early-prediction-of-pre-eclampsia-and-other-obstetric-complications
#1
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/29763964/incidental-fetal-ultrasound-findings-interpretation-and-management
#2
Rebekah Kaplan, Sharon Adams
Ultrasonography is a common component of prenatal care worldwide and is often used in early pregnancy to determine gestational age, number of fetuses, fetal cardiac activity, and placental location. Patients and their families may also consider ultrasonography a social event, as it provides confirmation and reassurance of a normal pregnancy. Ultrasound screening is typically scheduled in the second trimester to visualize fetal anatomy and confirm gestational age. Most ultrasound examinations are reassuring, but some incidentally identify structural anomalies and soft markers for aneuploidy, making it necessary for health care providers to correctly interpret these findings...
May 15, 2018: Journal of Midwifery & Women's Health
https://www.readbyqxmd.com/read/29746572/evaluation-of-a-novel-non-invasive-preimplantation-genetic-screening-approach
#3
Valeriy Kuznyetsov, Svetlana Madjunkova, Ran Antes, Rina Abramov, Gelareh Motamedi, Zenon Ibarrientos, Clifford Librach
OBJECTIVE: To assess whether embryonic DNA isolated from blastocyst culture conditioned medium (BCCM) combined with blastocoel fluid (BF) could be used for blastocyst stage non-invasive preimplantation genetic testing for chromosomal aneuploidy (non-invasive preimplantation genetic screening, NIPGS). PATIENTS: 47 embryos from 35 patients undergoing IVF. INTERVENTIONS: DNA analysis of combined BCCM plus BF in comparison with trophectoderm (TE) biopsy and/or whole blastocyst (WB)using next generation sequencing (NGS)...
2018: PloS One
https://www.readbyqxmd.com/read/29745012/clinical-results-after-the-implementation-of-cell-free-fetal-dna-detection-in-maternal-plasma
#4
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/29720125/facilitating-autonomous-confident-and-satisfying-choices-a-mixed-method-study-of-women-s-choice-making-in-prenatal-screening-for-common-aneuploidies
#5
An Chen, Henni Tenhunen, Paulus Torkki, Antti Peltokorpi, Seppo Heinonen, Paul Lillrank, Vedran Stefanovic
BACKGROUND: Population-based prenatal screening has become a common and widely available obstetrical practice in majority of developed countries. Under the patient autonomy principle, women should understand the screening options, be able to take their personal preferences and situations into account, and be encouraged to make autonomous and intentional decisions. The majority of the current research focuses on the prenatal screening uptake rate, women's choice on screening tests, and the influential factors...
May 2, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29714058/the-impact-of-contemporary-preimplantation-genetic-screening-and-diagnosis-on-the-detection-of-aneuploidy-and-inherited-genetic-diseases
#6
REVIEW
Shelby A Neal, Marie D Werner
Pre-implantation genetic screening and diagnosis represent important tools for embryo selection in patients undergoing in vitro fertilization. Methods have evolved in recent years and it can be challenging to remain up to date on the current technology. This review article seeks to provide an overview of pre-implantation genetic screening and diagnosis methods, the associated clinical outcomes, and the limitations of this technology.
May 1, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29697414/the-dilemma-of-aneuploidy-screening-on-low-responders
#7
Scott J Morin, Daniel J Kaser, Jason M Franasiak
PURPOSE OF REVIEW: Preimplantation genetic testing for aneuploidy (PGT-A) has been demonstrated to improve implantation and pregnancy rates and decrease miscarriage rates over standard morphology-based embryo selection. However, there are limited data on its efficacy in patients with diminished ovarian reserve or a poor response to stimulation who may have fewer embryos to select amongst. RECENT FINDINGS: Early findings demonstrate that PGT-A reduces the miscarriage rate and decreases the time to delivery in poor responders...
April 24, 2018: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29644704/close-but-not-quite-two-cases-of-sex-chromosome-aneuploidies-outside-the-scope-of-cell-free-dna-screening
#8
Katelynn G Sagaser, Blair Stevens, Jessica Davis, Hope Northrup, Aarti Ramdaney
No abstract text is available yet for this article.
April 12, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29626976/chronic-histiocytic-intervillositis-clinical-biochemical-and-radiological-findings-an-observational-study
#9
Lawrence Koby, Sarah Keating, Ann Kinga Malinowski, Rohan D'Souza
INTRODUCTION: Chronic histiocytic intervillositis (CHI) of the placenta although rare, has a high recurrence rate, is associated with serious adverse pregnancy outcomes and has no available treatment. This study aims to determine clinical, biochemical and radiological factors associated with CHI, to guide management of subsequent pregnancies. METHODS: This retrospective observational study included consecutive cases with a histopathologic diagnosis of CHI after 18 weeks of gestation, between 2001 and 2014, and no controls...
April 2018: Placenta
https://www.readbyqxmd.com/read/29626711/non-invasive-prenatal-diagnosis-of-fetal-aneuploidy-using-cell-free-fetal-dna
#10
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/29619224/sperm-aneuploidy-and-dna-fragmentation-in-unexplained-recurrent-pregnancy-loss-a-multicenter-case-control-study
#11
Camille Esquerré-Lamare, Marie Walschaerts, Lucie Chansel Debordeaux, Jessika Moreau, Florence Bretelle, François Isus, Gilles Karsenty, Laetitia Monteil, Jeanne Perrin, Aline Papaxanthos-Roche, Louis Bujan
Background: Recurrent pregnancy loss (RPL) is defined as the loss of at least three pregnancies in the first trimester. Although the most common cause is embryo aneuploidy, and despite female checkup and couple karyotyping, in about 50% of cases RPL remain unexplained. Male implication has little been investigated and results are discordant. In this context, we conducted a multi-center prospective case-control study to investigate male gamete implication in unexplained RPL. Methods: A total of 33 cases and 27 controls were included from three university hospitals...
2018: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/29606013/evaluation-of-pre-and-postnatally-diagnosed-gastrointestinal-tract-obstructions
#12
Gokcen Orgul, Tutku Soyer, Murat Yurdakok, Mehmet Sinan Beksac
PURPOSE: Signs of congenital obstruction of the gastrointestinal tract (GIT) organs may present on prenatal ultrasonography. Prenatal detection is influenced by several factors, including obstruction site, lesion degree (partial or complete), the occurrence of associated malformations, and gestational week at screening. Here, we aimed to evaluate the success of prenatal diagnosis of GIT obstructions in a tertiary center in Turkey. MATERIALS AND METHODS: The study included 34 prenatally and 22 postnatally diagnosed babies with different GIT malformations...
April 12, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29605407/next-generation-sequencing-for-preimplantation-genetic-screening-improves-pregnancy-outcomes-compared-with-array-comparative-genomic-hybridization-in-single-thawed-euploid-embryo-transfer-cycles
#13
Jenna Friedenthal, Susan M Maxwell, Santiago Munné, Yael Kramer, David H McCulloh, Caroline McCaffrey, James A Grifo
OBJECTIVE: To evaluate whether the use of next generation sequencing (NGS) for preimplantation genetic screening (PGS) in single thawed euploid embryo transfer (STEET) cycles improves pregnancy outcomes compared with array comparative genomic hybridization (aCGH). DESIGN: Retrospective cohort study. SETTING: Single university-based fertility center. PATIENT(S): A total of 916 STEET cycles from January 2014 to December 2016 were identified...
March 28, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29595011/-incidental-findings-of-maternal-genetic-abnormalities-during-non-invasive-prenatal-screening
#14
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
https://www.readbyqxmd.com/read/29576454/profound-tissue-specificity-in-proliferation-control-underlies-cancer-drivers-and-aneuploidy-patterns
#15
Laura Magill Sack, Teresa Davoli, Mamie Z Li, Yuyang Li, Qikai Xu, Kamila Naxerova, Eric C Wooten, Ronald J Bernardi, Timothy D Martin, Ting Chen, Yumei Leng, Anthony C Liang, Kathleen A Scorsone, Thomas F Westbrook, Kwok-Kin Wong, Stephen J Elledge
Genomics has provided a detailed structural description of the cancer genome. Identifying oncogenic drivers that work primarily through dosage changes is a current challenge. Unrestrained proliferation is a critical hallmark of cancer. We constructed modular, barcoded libraries of human open reading frames (ORFs) and performed screens for proliferation regulators in multiple cell types. Approximately 10% of genes regulate proliferation, with most performing in an unexpectedly highly tissue-specific manner. Proliferation drivers in a given cell type showed specific enrichment in somatic copy number changes (SCNAs) from cognate tumors and helped predict aneuploidy patterns in those tumors, implying that tissue-type-specific genetic network architectures underlie SCNA and driver selection in different cancers...
March 20, 2018: Cell
https://www.readbyqxmd.com/read/29575086/application-of-noninvasive-prenatal-testing-in-pregnancies-with-fetal-double-bubble-sign-is-it-feasible
#16
Lv-Yin Huang, Li Zhen, Min Pan, Jin Han, Xin Yang, Dong-Zhi Li
OBJECTIVE: To evaluate the application of noninvasive prenatal testing as an alternative to invasive diagnostic testing in pregnancies with the double bubble sign. METHODS: This was a retrospective analysis of 92 pregnancies with fetal double bubble identified by prenatal ultrasound, in which invasive diagnostic testing was performed for genetic investigations using quantitative fluorescence PCR and chromosomal microarray. Noninvasive prenatal testing was assumed to provide to patients for screening for the common aneuploidies...
March 25, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29566854/the-use-of-preimplantation-genetic-testing-for-aneuploidy-pgt-a-a-committee-opinion
#17
(no author information available yet)
The value of preimplantation genetic testing for aneuploidy (PGT-A) as a screening test for in vitro fertilization (IVF) patients has yet to be determined. Several studies demonstrate higher birth rates after aneuploidy testing and elective single-embryo transfer (eSET), suggesting the potential for this testing to decrease the risk of multiple gestations, though these studies have important limitations.
March 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29564832/time-lapse-imaging-for-the-detection-of-chromosomal-abnormalities-in-primate-preimplantation-embryos
#18
Brittany L Daughtry, Shawn L Chavez
The use of time-lapse microscopic imaging has proven to be a powerful tool for the study of mitotic divisions and other cellular processes across diverse species and cell types. Although time-lapse monitoring (TLM) of human preimplantation development was first introduced to the in vitro fertilization (IVF) community several decades ago, it was not until relatively recently that TLM systems were commercialized for clinical embryology purposes. Traditionally, human IVF embryos are assessed by successful progression and morphology under a stereomicroscope at distinct time points prior to selection for transfer...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29560516/combinational-chromosomal-aneuploidies-and-hpv-status-for-prediction-of-head-and-neck-squamous-cell-carcinoma-prognosis-in-biopsies-and-cytological-preparations
#19
Silke Wemmert, Maximilian Linxweiler, Cornelia Lerner, Florian Bochen, Philipp Kulas, Johannes Linxweiler, Sigrun Smola, Steffi Urbschat, Stefan Wagenpfeil, Bernhard Schick
PURPOSE: Head and neck squamous cell carcinoma (HNSCC) is one of the most common human cancer types with a very poor prognosis despite improvements in therapeutic modalities. The major known risk factors are tobacco use and alcohol consumption or infection with high-risk human papilloma viruses (HPV), especially in oropharyngeal tumors. The current management based on the assessment of a variety of clinical and pathological parameters does not sufficiently predict outcome. METHODS: Chromosomal alterations detected in HNSCCs were characterized by metaphase comparative genomic hybridization (CGH) and correlated with clinical parameters as well as survival time...
March 20, 2018: Journal of Cancer Research and Clinical Oncology
https://www.readbyqxmd.com/read/29550862/have-we-done-our-last-amniocentesis-updates-on-cell-free-dna-for-down-syndrome-screening
#20
REVIEW
Kathryn J Gray, Louise E Wilkins-Haug
Prenatal aneuploidy screening changed significantly in 2012 when cell-free fetal deoxyribonucleic acid (DNA) was introduced as a noninvasive prenatal test. A noninvasive prenatal test detects cell free fragments of fetal DNA from the placenta circulating in maternal blood that coexist with cell-free DNA (cfDNA) of maternal origin. Using next-generation sequencing, the noninvasive prenatal test compares maternal and fetal cfDNA ratios for chromosomes of interest (i.e., 21, 18, 13, X, and Y) to assess chromosomal aneuploidy...
April 2018: Pediatric Radiology
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