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Screening of aneuploidies

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https://www.readbyqxmd.com/read/28108156/smfm-consult-series-42-the-role-of-ultrasound-in-women-who-undergo-cell-free-dna-screening
#1
Mary E Norton, Joseph R Biggio, Jeffrey A Kuller, Sean C Blackwell
The introduction of cell-free DNA (cfDNA) screening for aneuploidy into obstetric practice in 2011 revolutionized the strategies utilized for prenatal testing. The purpose of this document is to review the current data on the role of ultrasound in women who have undergone or are considering cfDNA screening. The following are SMFM recommendations: 1) in women who have already received a negative cfDNA screen, ultrasound at 11-14 weeks of gestation solely for the purpose of NT measurement (CPT code 76813) is not recommended (GRADE 1B); 2) we recommend that diagnostic testing should not be recommended to patients solely for the indication of an isolated soft marker in the setting of a negative cfDNA screen (GRADE 2B); 3) in women with an isolated soft marker without other clinical implications (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative cfDNA screen, we recommend describing the finding as "not clinically significant" or as a "normal variant" (GRADE 2B); 4) in women with an isolated soft marker that has no other clinical implication (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative first or second trimester screening result, we recommend describing the finding as "not clinically significant" or as a "normal variant" (GRADE 2B); 5) we recommend that all women in whom a structural abnormality is identified by ultrasound should be offered diagnostic testing with chromosomal microarray (GRADE 1A); 6) we recommend against routine screening for microdeletions with cfDNA (GRADE 1B)...
January 17, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28100115/paternal-age-is-not-associated-with-pregnancy-outcomes-after-single-thawed-euploid-blastocyst-transfer
#2
Ashley W Tiegs, Nidhee M Sachdev, Jamie A Grifo, David H McCulloh, Frederick Licciardi
Although controversial, increasing paternal age has been shown to negatively affect assisted reproductive technology (ART) outcomes and success rates. Most studies investigating the effect of paternal age on ART outcomes use a donor oocyte model to minimize maternal aneuploidy contribution. This study sought to determine whether increasing paternal age is associated with adverse in vitro fertilization (IVF) outcomes when aneuploidy is minimized using preimplantation genetic screening. There were 573 single thawed euploid embryo transfers from 473 patients undergoing oocyte donor and autologous IVF cycles...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28079901/the-clinical-utility-of-dna-based-screening-for-fetal-aneuploidy-by-primary-obstetrical-care-providers-in-the-general-pregnancy-population
#3
Glenn E Palomaki, Edward M Kloza, Barbara M O'Brien, Elizabeth E Eklund, Geralyn M Lambert-Messerlian
OBJECTIVE: To assess the clinical utility of cell-free DNA (cfDNA)-based screening for aneuploidies offered through primary obstetrical care providers to a general pregnancy population. METHODS: Patient educational materials were developed and validated and providers were trained. Serum was collected for reflexive testing of cfDNA failures. Providers and patients were surveyed concerning knowledge, decision making, and satisfaction. Pregnancy outcome was determined by active or passive ascertainment...
January 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28040094/introduction-subchromosomal-abnormalities-in-preimplantation-embryonic-aneuploidy-screening
#4
Richard T Scott
The application of next generation sequencing platforms for embryonic aneuploidy screening provides enhanced resolution that allows routine evaluation of subchromosomal copy number abnormalities and mosaicism. Approximately 20% of embryos that would be designated as euploid using the conventional 24-chromosome aneuploidy screening will have evidence of a subchromosomal abnormality or mosaicism. This new information brings many challenges. Understanding the impact of these abnormalities on implantation and delivery rates is key to optimizing clinical counseling and management...
January 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28027672/relationship-between-first-trimester-aneuploidy-screening-test-serum-analytes-and-placenta-accreta
#5
Barış Büke, Hatice Akkaya, Sibel Demir, Sermet Sağol, Deniz Şimşek, Güneş Başol, Burcu Barutçuoğlu
OBJECTIVE: The aim of this study is to determine whether there is a relationship between first trimester serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (fβhCG) MoM values and placenta accreta in women who had placenta previa. STUDY DESIGN: A total of 88 patients with placenta previa who had first trimester aneuploidy screening test results were enrolled in the study. Nineteen of these patients were also diagnosed with placenta accreta...
December 27, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28026791/intelligent-non-invasive-diagnosis-of-aneuploidy-raw-values-and-highly-imbalanced-dataset
#6
Andreas Neocleous, Kypros Nicolaides, Christos Schizas
The objective of this work is to introduce a noninvasive diagnosis procedure for aneuploidy and minimize the social and financial cost of prenatal diagnosis tests that are performed for fetal aneuploidies in an early stage of pregnancy. We propose a method using artificial neural networks trained with data from singleton pregnancy cases, while undergoing first trimester screening. Three different datasets1 with a total of 122362 euploid and 967 aneuploid cases were used in this study. The data for each case contained markers collected from the mother and the fetus...
December 22, 2016: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/27997249/dosage-of-sex-chromosomal-genes-in-blood-deposited-on-filter-paper-for-neonatal-screening-of-sex-chromosome-aneuploidy
#7
Luis Daniel Campos-Acevedo, Marisol Ibarra-Ramirez, José de Jesús Lugo-Trampe, Michelle de Jesús Zamudio-Osuna, Iris Torres-Muñoz, Ma Del Roble Velasco-Campos, Luz Rojas-Patlan, Irám Pablo Rodríguez-Sánchez, Laura Elia Martínez-de-Villarreal
AIMS: In this study, we examined the doses of the stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY genes to establish a protocol for using peripheral blood samples deposited on filter paper for the screening of sex chromosome aneuploidy in neonates. We also measured correlations with karyotypes to assess this method as a neonatal screening strategy. MATERIALS AND METHODS: This was an observational, descriptive, comparative blind study...
December 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27987350/influence-of-beh%C3%A3-et-s-disease-on-first-and-second-trimester-serum-screening-markers
#8
Zehra Vural Yılmaz, Gülenay Gençosmanoğlu Türkmen, Elif Yılmaz, Korkut Dağlar, Ayşe Kırbaş, Cem Sanhal, Aykan Yücel, Dilek Uygur
AIM: Behçet's disease (BD) is a rare and multisystemic vasculitis disease. In this study, we investigated whether BD had any effect on the biochemical components of first and second trimester aneuploidy screening tests. METHODS: A case-control retrospective study was conducted with 32 pregnant women with BD and 60 healthy pregnant women as controls. All pregnant womens' first trimester maternal serum pregnancy-associated plasma protein-A, free β-human chorionic gonadotropin and second trimester serum alpha-fetoprotein, unconjugated estriol and total human chorionic gonadotropin levels were examined from medical records...
December 17, 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27984035/trends-in-gestational-age-at-time-of-surgical-abortion-for-fetal-aneuploidy-and-structural-abnormalities
#9
Anne R Davis, Sarah K Horvath, Paula M Castaño
BACKGROUND: Screening for fetal aneuploidy has evolved over the past two decades. Whether these advances impact gestational age at abortion has received little study. OBJECTIVE: To describe trends in the gestational age at the time of abortion by fetal diagnosis over an eleven-year study period. We hypothesized that gestational age at time of abortion would decrease for fetal aneuploidy but remain unchanged for structural abnormalities. STUDY DESIGN: We conducted a retrospective case series of all women undergoing surgical abortion for fetal aneuploidy or structural abnormalities up to 24 weeks gestation from 2004 through 2014 in a hospital operating room setting at a single, urban medical center...
October 27, 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27981672/performance-evaluation-of-the-neobona-test-a-new-paired-end-massive-parallel-shotgun-sequencing-approach-for-cfdna-based-aneuploidy-screening
#10
Vincenzo Cirigliano, Elena Ordoñez, Laura Rueda, Argyro Syngelaki, Kypros H Nicolaides
OBJECTIVE: To assess the performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using a new method based on paired-end massive parallel shotgun sequencing (MPSS). METHODS: Blind study of 1000 plasma samples (1 mL) obtained from women undergoing screening for trisomies 21, 18 and 13 at 11-13 weeks' gestation. The study included 50 cases with confirmed fetal trisomy 21, 30 with trisomy 18, 10 with trisomy 13 and 910 unaffected pregnancies...
December 15, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27977861/a-copy-number-variation-genotyping-method-for-aneuploidy-detection-in-spontaneous-abortion-specimens
#11
Songchang Chen, Deyuan Liu, Junyu Zhang, Shuyuan Li, Lanlan Zhang, Jianxia Fan, Yuqin Luo, Yeqing Qian, Hefeng Huang, Chao Liu, Huanhuan Zhu, Zhengwen Jiang, Chenming Xu
OBJECTIVE: Chromosomal abnormalities such as aneuploidy have been shown to be responsible for causing spontaneous abortion. Genetic evaluation of abortions is currently underperformed. Screening for aneuploidy in the products of conception can help determine the etiology. We designed a high-throughput ligation-dependent probe amplification (HLPA) assay to examine aneuploidy of 24 chromosomes in miscarriage tissues and aimed to validate the performance of this technique. METHODS: We carried out aneuploidy screening in 98 fetal tissue samples collected from female subjects with singleton pregnancies who experienced spontaneous abortion...
December 15, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27942498/down-syndrome-current-status-challenges-and-future-perspectives
#12
REVIEW
Mohammad Kazemi, Mansoor Salehi, Majid Kheirollahi
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27939473/bedside-cardiovascular-maternal-interrogation-in-the-first-trimester-to-predict-different-phenotypes-of-hypertensive-disorders-in-pregnancy
#13
Daniela Denis Di Martino, Tamara Stampalija, Eleonora Rosti, Daniela Casati, Valentina Signorelli, Sara Zullino, Cristina Mastroianni, Mariachiara Quadrifoglio, Enrico Ferrazzi
OBJECTIVE: The aim is to evaluate if maternal cardiovascular indices, in the first trimester of pregnancy, might be useful to differentiate women who develop different hypertensive disorders of pregnancy (HDP). STUDY DESIGN: Method: 1399 pregnant women attending screening for chromosomal aneuploidies were recruited. The following parameters were measured: Doppler Velocimetry of uterine arteries; Peripheral blood pressure; Aortic Pressure derived from applanation tonometry...
October 2016: Pregnancy Hypertension
https://www.readbyqxmd.com/read/27939466/the-utility-of-first-trimester-uterine-artery-doppler-placental-volume-and-papp-a-levels-alone-and-in-combination-to-predict-preeclampsia
#14
Burak Yücel, Ali Gedikbasi, Oznur Dündar, Yusuf Olgac, Dogukan Yıldırım, Gokhan Yıldırım, Ibrahim Polat
In this study, we aimed to evaluate the detection of pre-eclampsia (PE) by integrating uterine artery Doppler, placental volume, and pregnancy-associated plasma protein A (PAPP-A) levels in the first trimester. We prospectively recruited 602 women that underwent 11-13weeks' aneuploidy screening. The mean pulsatility index (PI) of the uterine arteries and the placental volume were measured by ultrasonography. Measurement of PAPP-A levels has been performed at the same day of ultrasonographic examinations. The 90th percentile of uterine artery PI and the 10th percentile of placental volume and PAPP-A levels were used as cut-offs...
October 2016: Pregnancy Hypertension
https://www.readbyqxmd.com/read/27938863/embryos-with-morphokinetic-abnormalities-may-develop-into-euploid-blastocysts
#15
C Lagalla, N Tarozzi, R Sciajno, D Wells, M Di Santo, M Nadalini, V Distratis, A Borini
Irregular cleavage divisions are expected to produce chromosomally deviant embryos. We investigated whether embryos from irregular cleavages could develop into euploid blastocysts, and, if so, whether any evidence existed of a self-correction mechanism of the embryo. We also investigated the role of different dynamic aspects of morula compaction in this process. A total of 791 embryos from 141 patients undergoing pre-implantation genetic screening were retrospectively analysed using a time-lapse imaging system, and multiple cell divisions were evaluated...
November 24, 2016: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/27931155/prenatal-paradox-an-integrative-review-of-women-s-experiences-with-prenatal-screening-for-fetal-aneuploidy-and-neural-tube-defects
#16
Tamra L Shea
BACKGROUND: As prenatal screening for fetal aneuploidy and neural tube defects evolves technologically and becomes increasingly utilized worldwide, an evaluation of the available evidence on women's experiences with prenatal screening is warranted. AIMS: To conduct an integrative review to enhance understanding of women's experiences with prenatal screening for fetal aneuploidy and neural tube defects. DESIGN: Systematic literature searches from January 2005 through January 2016, using the CINAHL, PubMed, and PsychInfo electronic databases and ancestry searches of included studies were performed to identify previously published, peer-reviewed quantitative and qualitative studies...
December 30, 2016: Contemporary Nurse
https://www.readbyqxmd.com/read/27920020/repeated-failed-non-invasive-prenatal-testing-in-a-woman-with-immune-thrombocytopenia-and-antiphospholipid-syndrome-lessons-learnt
#17
C Y Y Hui, W C Tan, E L Tan, L K Tan
We present a case of a 37-year-old Chinese woman (gravida 4 para 0) with a history of immune thrombocytopenia and type IIb antiphospholipid syndrome. She was started on 100 mg of aspirin, 20 mg of prednisolone and 20 mg of subcutaneous low-molecular-weight heparin daily for her fourth pregnancy. She opted for non-invasive prenatal testing for aneuploidy screening but had failed results three times consecutively from insufficient fetal cfDNA initially or high variance in cfDNA counts on redraws. She declined invasive karyotyping...
December 5, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27915499/first-trimester-contingent-screening-for-trisomies-21-18-13-is-this-model-cost-efficient-and-feasible-in-pubblic-health-system
#18
Enrico Colosi, Valentina D'Ambrosio, Enrico Periti
PURPOSE: To evaluate the effectiveness of three different first trimester screening models for trisomies 21, 18 and 13, in terms of detection rate, invasive test rate and final costs. MATERIAL AND METHODS: We analyzed the distribution of risk for trisomies 21, 18 and 13 in a population of 20.831 singleton pregnancies based on maternal age, fetal heart rate, nuchal translucency, free beta human chorionic gonadotropin and pregnancy associated plasma protein A (Combined test)...
December 5, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27913926/maxillary-length-in-euploid-and-aneuploid-fetuses
#19
Markus Hoopmann, Jiri Sonek, Dominik Goldschmid, Philipp Wagner, Harald Abele, Karl Oliver Kagan
PURPOSE: To examine the maxillary length of euploid and aneuploid fetuses in the second and third trimester. METHODS: Retrospective study utilizing stored 2D images of second and third trimester fetal profiles obtained at the University of Tuebingen, Germany. The length of the maxilla was measured as a straight line between the anterior ventral and posterior ventral edges of the maxilla. RESULTS: The study population consisted of 347 euploid fetuses and 122, 36, 5, 8, and 4 fetuses with trisomy 21, 18, and 13, Turner syndrome, and triploidy...
December 2, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27907920/aneuploidy-detection-and-mtdna-quantification-in-bovine-embryos-with-different-cleavage-onset-using-a-next-generation-sequencing-based-protocol
#20
Miroslav Hornak, David Kubicek, Petr Broz, Pavlina Hulinska, Katerina Hanzalova, Darren Griffin, Marie Machatkova, Jiri Rubes
Bovine embryos are now routinely used in agricultural systems as a means of disseminating superior genetics worldwide, ultimately with the aim of feeding an ever-growing population. Further investigations, common for human IVF embryos, thus have priority to improve cattle IVF, as has screening for aneuploidy (abnormal chromosome number). Although the incidence and consequences of aneuploidy are well documented in human preimplantation embryos, they are less well known for the embryos of other animals. To address this, we assessed aneuploidy levels in thirty-one 2-cell bovine embryos derived from early- and late-cleaving zygotes...
2016: Cytogenetic and Genome Research
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