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https://www.readbyqxmd.com/read/29447663/prenatal-diagnosis-by-chromosomal-microarray-analysis
#1
REVIEW
Brynn Levy, Ronald Wapner
Chromosomal microarray analysis (CMA) is performed either by array comparative genomic hybridization or by using a single nucleotide polymorphism array. In the prenatal setting, CMA is on par with traditional karyotyping for detection of major chromosomal imbalances such as aneuploidy and unbalanced rearrangements. CMA offers additional diagnostic benefits by revealing sub-microscopic imbalances or copy number variations that are too small to be seen on a standard G-banded chromosome preparation. These submicroscopic imbalances are also referred to as microdeletions and microduplications, particularly when they include specific genomic regions that are associated with clinical sequelae...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29447662/cell-free-dna-for-the-detection-of-fetal-aneuploidy
#2
REVIEW
Tamar Goldwaser, Susan Klugman
Screening for fetal aneuploidy via cell-free DNA was described more than two decades ago and has been used clinically by obstetric providers in the United States for more than 5 years. Cell-free DNA affords excellent detection of fetal Down syndrome and other common aneuploidies and thus is sought by patients and providers. However, owing to the source of the DNA and the nature of the screening test, scenarios may arise that require expert counseling about complex issues regarding fetal and maternal health, test interpretation, and management...
February 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29446677/how-to-integrate-cell-free-dna-screening-with-sonographic-markers-for-aneuploidy-an-update
#3
Thomas C Winter, Nancy C Rose
OBJECTIVE: The sonologist detects a so-called "soft marker" during approximately 10% of routine second-trimester anatomy examinations and is often uncertain about what further management is appropriate. This article will specifically address the management of patients with sonographic markers for six common entities: choroid plexus cysts (CPCs), ventriculomegaly (VM), echogenic intracardiac focus (EIF), urinary tract dilation (UTD), fetal echogenic bowel (FEB), and femoral and humeral shortening...
February 15, 2018: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/29441593/comment-on-the-commentary-by-evans-et-al-entitled-the-price-of-abandoning-diagnostic-testing-for-cell-free-dna-screening
#4
Lisa Hui, Mary Norton
Any screening approach, including with cell-free DNA, will have an inferior detection rate compared with 100% diagnostic testing with chromosomal microarrays. Cell-free DNA-based screening, however, should not be seen as a threat to informed choice or maximising the benefits of diagnostic testing. Screening methods have become so much better that more women are now comfortable relying on such screening and do not need the certainty of a diagnostic test. This has not lead to a decline in detection of fetal chromosome abnormalities - in fact, we are now seeing historically high yields from prenatal screening...
February 14, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29437259/early-fetal-sexing-in-the-rhinoceros-by-detection-of-male-specific-genes-in-maternal-serum
#5
Monica A Stoops, G Douglas Winget, Christopher J DeChant, Ray L Ball, Terri L Roth
Genetic sexing of animals with long gestation time benefits the management of captive populations. Here, X and Y chromosome-specific primers, based on equine gene sequencing data, were developed and tested on captive rhinoceroses (10 males, 20 females) representing four species (Diceros bicornis, Certaotherium simum simum, Rhinoceros unicornis, and Dicerorhinus sumatrensis). The Y chromosome-specific primer set targeted SRY (Sex-determining region Y), and amplified a 177-bp product following PCR of DNA extracted from males, but not females, of all species...
February 13, 2018: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/29435489/the-use-of-ultrasound-as-a-potential-adjunct-to-cell-free-fetal-dna-screening-for-aneuploidy-at-weill-cornell-medical-college-new-york-usa
#6
Jessica Scholl, Stephen Chasen
Objective To evaluate the utility of ultrasound in identifying fetuses with uncommon chromosomal abnormalities that would be considered not detectable by cell-free fetal deoxyribonucleic acid (cfDNA). Study Design We performed a retrospective study of fetuses with chromosomal abnormalities that would be undetectable by cfDNA, who underwent an 11- to 14-week ultrasound from 2006 to 2016. Results There were 43 pregnancies included. First-trimester ultrasound revealed a fetal abnormality in 19 (44.2%) cases, of which 13 (30...
January 2018: Surgery Journal
https://www.readbyqxmd.com/read/29428284/cell-free-dna-screening-for-single-gene-disorders-and-determination-of-fetal-rhesus-d-genotype
#7
REVIEW
Kristin D Gerson, Barbara M O'Brien
The use of cell-free DNA (cfDNA) for screening and diagnosis of single-gene disorders is an evolving technology, and its application at this time is limited. Invasive testing is currently recommended for the diagnosis of single-gene disorders. The limitations of cfDNA technology are most notable in clinical settings involving X-linked and autosomal recessive conditions, in part because maternal mutant alleles greatly outnumber those of fetal origin. Examples of single-gene disorders for which cfDNA has been used include skeletal dyplasias, cystic fibrosis, congenital adrenal hyperplasia, β-thalassemia, and muscular dystrophies...
March 2018: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/29423788/evaluation-of-extraction-methods-for-methylated-cell-free-fetal-dna-from-maternal-plasma
#8
Ji Hyae Lim, Bom Yi Lee, Jin Woo Kim, You Jung Han, Jin Hoon Chung, Min Hyoung Kim, Dong Wook Kwak, So Yeon Park, Hee Back Choi, Hyun Mee Ryu
PURPOSE: Recently, fetal placenta-specific epigenetic regions (FSERs) have been identified for quantification of cell-free fetal DNA (cff-DNA) for non-invasive prenatal testing (NIPT). The aim of this study was to evaluate the efficiencies of a column-based kit and magnetic bead-based kit for quantification of methylated FSERs from maternal plasma. METHODS: Maternal plasma was extracted from normal pregnant women within the gestational age of 10~13 weeks (n = 24)...
February 8, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29420407/maternal-malignancy-evaluation-after-discordant-cell-free-dna-results
#9
Laura M Carlson, Emily Hardisty, Catherine C Coombs, Neeta L Vora
Cell-free DNA screening for fetal aneuploidy is a commonly used testing strategy in pregnancies at high risk for fetal aneuploidy. The use of cell-free DNA screening is expanding to the low-risk population, because the detection rate for trisomy 21 surpasses that of traditional screening modalities. Although the sensitivity and specificity of cell-free DNA are superior to traditional screening, false-positive results do occur and may indicate an adverse maternal health condition, including maternal mosaicism or, rarely, malignancy...
February 5, 2018: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29419861/-data-analysis-of-non-invasive-prenatal-testing-based-on-special-loci-in-cell-free-fetal-dna
#10
Liming Xuan, Lingyin Kong, Yingying Xia, Yan Mao, Jingjing Shen, Yijun Zhu, Yongfeng Xue, Danfeng Sun, Huimin Liu, Bo Liang
OBJECTIVE To analyze the data of non-invasive prenatal testing based on specific loci of circulating cell-free fetal DNA (cffDNA). METHODS Selected loci of target chromosomes were analyzed by sequence capture and sequencing. Meanwhile, 600 loci were selected from other chromosomes for determining the concentration of cffDNA. RESULTS A total of 768 specific loci were captured on chromosomes 21 and 18, and used to determine whether the two were abnormal. When the minimum concentration of detected cffDNA was set at 3% and the threshold of Z score was set to [-6,6], the specificity of the analysis was 99...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29419860/-performance-of-prenatal-screening-by-non-invasive-cell-free-fetal-dna-testing-for-women-with-various-indications
#11
Bin Zhang, Lingyan Pan, Huiyan Wang, Jianbing Liu, Beiyi Lu, Yingping Chen, Wei Long, Bin Yu
OBJECTIVE To assess the performance of non-invasive prenatal testing (NIPT) based on massive parallel sequencing. METHODS A total of 10 275 maternal blood samples were collected. Fetal chromosomal aneuploides were subjected to low coverage whole genome sequencing. Patients with high risks received further prenatal diagnosis. The outcome of all patients were followed up. RESULTS High-throughput sequencing detected 72 pregnancies with fetal autosomal chromosomal aneuploidy, including 57 cases of trisomy 21, 14 cases of trisomy 18, and 1 case of trisomy 13...
February 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29417598/the-price-of-abandoning-diagnostic-testing-for-cell-free-fetal-dna-screening
#12
Mark I Evans, Shara M Evans, Terry Ann Bennett, Ronald J Wapner
No abstract text is available yet for this article.
February 7, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29396076/-what-are-the-real-purpose-and-scope-of-screening-for-aneuploidy
#13
T Quibel, P Rozenberg
In France, the recommended method for Down syndrome screening is the first trimester combined test, the risk assessment, based on maternal age, ultrasound measurement of fetal nuchal translucency and maternal serum markers (free β-hCG and PAPP-A). The Down syndrome detection rate is 78.7% at a screen positive rate of 5%. However, the best screening test is the integrated test using a combination of first trimester combined test and second trimester quadruple test (serum α-fetoprotein, human chorionic gonadotropin, unconjugated E3, and dimeric inhibin-A) and being able to achieve a detection rate for Down syndrome of approximately 96% at a screen-positive rate of 5%...
January 27, 2018: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29388226/predicting-fetoplacental-chromosomal-mosaicism-during-non-invasive-prenatal-testing
#14
Nathalie Brison, Maria Neofytou, Luc Dehaspe, Baran Bayindir, Kris Van Den Bogaert, Leila Dardour, Hilde Peeters, Hilde Van Esch, Griet Van Buggenhout, Annick Vogels, Thomy de Ravel, Eric Legius, Koen Devriendt, Joris R Vermeesch
OBJECTIVE: Non-invasive prenatal detection of aneuploidies can be achieved with high accuracy through sequencing of cfDNA in the maternal blood plasma. However, false positive and negative NIPT results remain. Fetoplacental mosaicism is the main cause for false positive and false negative NIPT. We set out to develop a method to detect placental chromosomal mosaicism via genome-wide circulating cell-free maternal plasma DNA (cfDNA) screening. METHOD: Aneuploidy detection was combined with fetal fraction determination to enable the detection of placental mosaicism...
January 31, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29380944/optimal-non-invasive-diagnosis-of-fetal-achondroplasia-combining-ultrasonography-and-circulating-cell-free-fetal-dna-analysis
#15
Alexandre J Vivanti, Jean-Marc Costa, Audrey Rosefort, Pascale Kleinfinger, Laurence Lohmann, Anne-Gael Cordier, Alexandra Benachi
OBJECTIVE: To assess the performance of non-invasive prenatal testing of achondroplasia using high-resolution melting (HRM) analysis. To propose an optimal diagnosis strategy combining ultrasound scan and cell-free fetal DNA (cffDNA) analysis. METHODS: Prospective multicenter study. CffDNA was extracted from maternal blood from women at risk for fetal achondroplasia (paternal achondroplasia, previous affected child or suspected rhizomelic shortening). The presence of one of the two main FGFR3 mutations was determined by HRM combined with confirmation by SNaPshot minisequencing...
January 30, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29378552/optimized-dna-electroporation-for-primary-human-t-cell-engineering
#16
Zhang Zhang, Shunfang Qiu, Xiaopeng Zhang, Wei Chen
BACKGROUND: Effective gene-delivery systems for primary human T cell engineering are useful tools for both basic research and clinical immunotherapy applications. Pseudovirus-based systems and electro-transfection are the most popular strategies for genetic material transduction. Compared with viral-particle-mediated approaches, electro-transfection is theoretically safer, because it does not promote transgene integration into the host genome. Additionally, the simplicity and speed of the procedure increases the attractiveness of electroporation...
January 30, 2018: BMC Biotechnology
https://www.readbyqxmd.com/read/29377389/modified-methylated-dna-immunoprecipitation-protocol-for-noninvasive-prenatal-diagnosis-of-down-syndrome
#17
Fatemeh Karami, Mohammad R Noori-Daloii, Kobra Omidfar, Mina Tabrizi, Seddigheh Hantooshzadeh, Ashraf Aleyasin, Maryam Daneshpour, Mohammad H Modarressi
AIM: Methylated DNA immunoprecipitation real-time quantitative polymerase chain reaction (MeDIP-real-time qPCR) has been introduced as noninvasive prenatal test that has shown absolute detection rate in the screening of Down syndrome. Herein, we aimed to propose a novel modification of MeDIP-qPCR and assess its potential to alleviate the overall cost of the test, being used in very early weeks of pregnancy, and develop it to a noninvasive prenatal diagnosis biosensor in future researches...
January 26, 2018: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29373860/cadmium-associated-differential-methylation-throughout-the-placental-genome-epigenome-wide-association-study-of-two-u-s-birth-cohorts
#18
Todd M Everson, Tracy Punshon, Brian P Jackson, Ke Hao, Luca Lambertini, Jia Chen, Margaret R Karagas, Carmen J Marsit
BACKGROUND: Cadmium (Cd) is a ubiquitous environmental toxicant that can accumulate in the placenta during pregnancy, where it may impair placental function and affect fetal development. OBJECTIVES: We aimed to investigate Cd-associated variations in placental DNA methylation (DNAM) and associations with gene expression; we also aimed to identify novel pathways involved in Cd-associated reproductive toxicity. METHODS: Using placental DNAM and Cd concentrations in the New Hampshire Birth Cohort Study (NHBCS, n=343) and the Rhode Island Child Health Study (RICHS, n=141), we performed an epigenome-wide association study (EWAS) between Cd and DNAM, adjusting for tissue heterogeneity using a reference-free method...
January 22, 2018: Environmental Health Perspectives
https://www.readbyqxmd.com/read/29368276/investigating-pregnancy-outcomes-after-abnormal-cell-free-dna-test-results
#19
Jessica Lu, Devereux N Saller, Luanne M Fraer, Beatrice A Chen
Cell-free DNA (cfDNA) testing has increased sensitivity and specificity compared to other prenatal screening methods, but invasive diagnostic testing (IDT) is recommended for confirmation. We performed a retrospective chart review of 39 women with abnormal cfDNA results between March 2012 and September 2015 at an urban academic hospital to evaluate patient choice and pregnancy outcomes. We analyzed data using descriptive statistics, Fisher's exact tests, and Wilcoxon rank-sum tests. Median maternal age was 36...
January 24, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29363829/genome-wide-non-invasive-prenatal-screening-for-all-cytogenetically-visible-imbalances
#20
EDITORIAL
Peter Benn, Francesca Romana Grati
The fetal component of maternal plasma cell-free DNA is primarily derived from cytotrophoblasts and this is the same lineage as the cells routinely analyzed in chorionic villus sample (CVS) direct or semi-direct preparations. We therefore developed an initial theoretical projection for a genome-wide non-invasive prenatal test (NIPT) under an assumption that will identify a similar spectrum of cytogenetically unbalanced abnormalities. The specific chromosome abnormalities likely to be detected, additional studies, clinical interpretation issues and counseling burden were considered...
January 24, 2018: Ultrasound in Obstetrics & Gynecology
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