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https://www.readbyqxmd.com/read/29440752/one-step-noninvasive-prenatal-testing-nipt-for-autosomal-recessive-homozygous-point-mutations-using-digital-pcr
#1
Mun Young Chang, Soyeon Ahn, Min Young Kim, Jin Hee Han, Hye-Rim Park, Han Kyu Seo, Jinsun Yoon, Seungmin Lee, Doo-Yi Oh, Changsoo Kang, Byung Yoon Choi
Previously, we introduced a noninvasive prenatal testing (NIPT) protocol for diagnosing compound heterozygous autosomal recessive point mutations via maternal plasma DNA and simulated control genomic DNA sampling based on fetal DNA fraction. In our present study, we have improved our NIPT protocol to make it possible to diagnose homozygous autosomal recessive point mutations without the need to acquire fetal DNA fraction. Moreover, chi-squared test and empirical statistical range based on the proportion of mutant allele reads among the total reads served as the gatekeeping method...
February 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29402153/psychological-factors-influencing-choice-of-prenatal-diagnosis-in-chinese-multiparous-women-with-advanced-maternal-age
#2
Bi-Heng Cheng, Jian-Hua Chen, Gao-Hua Wang
OBJECTIVES: To investigate the psychological predictors in Chinese multiparous pregnant women of advanced maternal age (AMA) for choosing aneuploidy screening or diagnostic testing. METHODS: A total of 84 pregnant women of AMA were consecutively enrolled from Renming Hospital, Wuhan University. All participants completed three questionnaires: Zung Self-Rating Anxiety Scale (SAS), Zung Self-Rating Depression Scale (SDS), and Pregnancy Stress Rating Scale (PSRS). Demographic information and the choice of noninvasive prenatal testing (NIPT) versus invasive prenatal diagnosis (PND) were also collected...
February 5, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29396076/-what-are-the-real-purpose-and-scope-of-screening-for-aneuploidy
#3
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/29381401/noninvasive-prenatal-testing-of-rare-autosomal-aneuploidies-by-semiconductor-sequencing
#4
Mei-Juan Xie, Zhi-Kun Liang, Dan He, Wei-Wen Xu, Ying-Song Wu, Xue-Xi Yang, Ming Li
Rare autosomal aneuploidies (RAAs) can cause miscarriage or other pregnancy complications and lead to inconsistent results of noninvasive prenatal testing (NIPT), but many NIPT providers have not yet started to provide related services. Our aim was to develop a semiconductor sequencing platform (SSP)-based method for detecting RAAs when pregnant women performed NIPT. Fifty-three aneuploidy samples with verified karyotyping or array comparative genomic hybridization (aCGH) results were collected and subjected to RAAs detection using an SSP to develop a method by genomic sequencing...
January 30, 2018: DNA and Cell Biology
https://www.readbyqxmd.com/read/29380343/prenatal-diagnosis-and-socioeconomic-status-in-the-non-invasive-prenatal-testing-era-a-population-based-study
#5
Lisa Hui, Jenna Barclay, Alice Poulton, Briohny Hutchinson, Jane L Halliday
BACKGROUND: Advances in technology can bring great benefits to human health, but their implementation may be influenced by socioeconomic factors, particularly in the field of prenatal screening for Down syndrome. AIM: To analyse screening test indications for, and diagnostic yield of, invasive prenatal diagnostic testing (PNDx) according to socioeconomic status. METHODS: Retrospective analysis of population-based data on PNDx and karyotype results for 2014-2015 in the Australian state of Victoria...
January 30, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/29377389/modified-methylated-dna-immunoprecipitation-protocol-for-noninvasive-prenatal-diagnosis-of-down-syndrome
#6
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/29362687/false-low-risk-single-nucleotide-polymorphism-based-noninvasive-prenatal-screening-in-pentasomy-49-xxxxy
#7
Manesha Putra, Melissa A Hicks, Jacques S Abramowicz
Introduction  Pentasomy 49,XXXXY is a sex chromosome anomaly difficult to be diagnosed prenatally. We describe a patient of pentasomy 49,XXXXY with false low-risk results using a noninvasive prenatal screening (NIPS). A 30-year-old G1P0 woman presented at 33 6/7 weeks, secondary to sonographic fetal anomalies. She had low-risk NIPS at 13 6/7 weeks. Anatomy survey showed bilateral clubfeet, clinodactyly of the left fifth digit, micropenis, and echogenic bowel. Cytogenetics analysis revealed pentasomy 49,XXXXY syndrome...
January 2018: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29334402/noninvasive-reconstruction-of-placental-methylome-from-maternal-plasma-dna-potential-for-prenatal-testing-and-monitoring
#8
Kun Sun, Fiona M F Lun, Tak Y Leung, Rossa W K Chiu, Y M Dennis Lo, Hao Sun
OBJECTIVE: During human pregnancy, the DNA methylation of placental tissue is highly relevant to the normal growth and development of the fetus, therefore methylomic analysis of the placental tissue possesses high research and clinical value in prenatal testing and monitoring. Thus our aim is to develop an approach for reconstruction of the placental methylome, which should be completely noninvasive and achieve high accuracy and resolution. RESULTS: We propose a novel size-based algorithm, FEMER, to noninvasively reconstruct the placental methylome by genomewide bisulfite sequencing and size-based analysis of maternal plasma DNA...
January 15, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29317692/haplotype-based-noninvasive-prenatal-diagnosis-of-hyperphenylalaninemia-through-targeted-sequencing-of-maternal-plasma
#9
Jun Ye, Chao Chen, Yuan Yuan, Lianshu Han, Yaoshen Wang, Wenjuan Qiu, Huiwen Zhang, Asan, Xuefan Gu
Here we developed a haplotype-based noninvasive prenatal diagnosis method for hyperphenylalaninemia (HPA) and demonstrated its accuracy and feasibility during early pregnancy. Capture sequencing was performed on genomic DNA from parents and probands using customized hybridization probes targeting highly heterozygous single-nucleotide polymorphisms located within the 1 M region flanking phenylalanine hydroxylase (PAH) and 6-pyruvoyltetrahydropterin (PTS) and its coding region to determine the parental haplotypes and linkage to pathogenic mutations...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29301182/diagnostic-and-therapeutic-considerations-in-turner-syndrome
#10
REVIEW
Seung Yang
Newly developed genetic techniques can reveal mosaicism in individuals diagnosed with monosomy X. Noninvasive prenatal diagnosis using maternal blood can detect most fetuses with X chromosome abnormalities. Low-dose and ultralow-dose estrogen replacement therapy can achieve a more physiological endocrine milieu. However, many complicated and controversial issues with such treatment remain. Therefore, lifetime observation, long-term studies of health problems, and optimal therapeutic plans are needed for women with Turner syndrome...
December 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29300981/chromosome-screening-using-noninvasive-prenatal-testing-beyond-trisomy-21-what-to-screen-for-and-why-it-matters
#11
Kristien Hens
With the new and highly accurate noninvasive prenatal test (NIPT), new options for screening become available. I contend that the current state of the art of NIPT is already in need of a thorough ethical investigation and that there are different points to consider before any chromosomal or subchromosomal condition is added to the screening panel of a publicly funded screening program. Moreover, the application of certain ethical principles makes the inclusion of some conditions unethical in a privately funded scheme, even if such screening would enhance a woman's reproductive autonomy...
January 12, 2018: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/29247311/implementing-group-prenatal-counseling-for-expanded-noninvasive-screening-options
#12
Betsy L Gammon, Laura Otto, Myra Wick, Kristy Borowski, Megan Allyse
Recently, practices have begun integrating cell-free DNA-based noninvasive prenatal screening as a screening option for a variety of genetic conditions. According to the National Society of Genetic Counselors, the integration of cfDNA screening into clinical prenatal practice may "significantly shift the paradigm of prenatal testing and screening for all women." The purpose of this study was to determine whether group information sessions can feasibly serve as an alternative to extended one-on-one genetic counseling for the increasing number of women making decisions about prenatal testing and screening...
December 15, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29241910/prenatal-diagnosis-of-down-syndrome-a-13-year-retrospective-study
#13
Ana Vičić, Tomislav Hafner, Ivanka Bekavac Vlatković, Petra Korać, Dubravko Habek, Feodora Stipoljev
OBJECTIVE: The aim of this study is to summarize the experience on prenatal diagnosis of Down syndrome. MATERIALS AND METHODS: The study includes a retrospective data analysis of 157 prenatally detected cases of Down syndrome, routinely diagnosed among 6448 prenatal investigations performed during a 13-year period (2002-2014) in a single tertiary center. RESULTS: The prevalence of diagnosed Down syndrome cases was 2.4%. Maternal age alone was indication for prenatal diagnosis in 47 cases (45...
December 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29233528/-overview-of-feelings-and-practices-of-gynecologists-and-obstetricians-for-the-noninvasive-prenatal-testing-in-france
#14
C Bardy-Evrard, A Mattuizzi, F Coatleven, A Nithart, G Evrard, A Benachi, I Nisand, L Sentilhes
OBJECTIVES: To evaluate the feelings and practices of French obstetrician-gynecologists in prescribing the noninvasive prenatal testing (NIPT) before the release of the French High Authority of Health recommendations. METHODS: Descriptive, declarative and transversal study, analyzing the feelings and practices of obstetrician-gynecologists, members of the French College of Gynecologists and Obstetricians (CNGOF) between February and May 2017 using an online questionnaire...
December 7, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29215645/cherchez-la-femme-maternal-incidental-findings-can-explain-discordant-prenatal-cell-free-dna-sequencing-results
#15
REVIEW
Diana W Bianchi
Circulating DNA fragments in a pregnant woman's plasma derive from three sources: placenta, maternal bone marrow, and fetus. Prenatal sequencing to noninvasively screen for fetal chromosome abnormalities is performed on this mixed sample; results can therefore reflect the maternal as well as the fetoplacental DNA. Although it is recommended that pretest counseling include the possibility of detecting maternal genomic imbalance, this seldom occurs. Maternal abnormalities that can affect a prenatal screening test result include disorders that affect the size and metabolism of DNA, such as B12 deficiency, autoimmune disease, and intrahepatic cholestasis of pregnancy...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29213331/noninvasive-prenatal-diagnosis-of-fetal-aneuploidy-by-circulating-fetal-nucleated-red-blood-cells-and-extravillous-trophoblasts-using-silicon-based-nanostructured-microfluidics
#16
Chung-Er Huang, Gwo-Chin Ma, Hei-Jen Jou, Wen-Hsiang Lin, Dong-Jay Lee, Yi-Shing Lin, Norman A Ginsberg, Hsin-Fu Chen, Frank Mau-Chung Chang, Ming Chen
Background: Noninvasive prenatal testing (NIPT) based on cell-free DNA in maternal circulation has been accepted worldwide by the clinical community since 2011 but limitations, such as maternal malignancy and fetoplacental mosaicism, preclude its full replacement of invasive prenatal diagnosis. We present a novel silicon-based nanostructured microfluidics platform named as "Cell Reveal™" to demonstrate the feasibility of capturing circulating fetal nucleated red blood cells (fnRBC) and extravillous cytotrophoblasts (EVT) for cell-based noninvasive prenatal diagnosis (cbNIPD)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29188622/-two-false-negative-cases-in-noninvasive-prenatal-testing-for-fetal-chromosomal-aneuploidies
#17
Ping Wen, Ying Xue, Qin Zhang, Qing Liang, Qiong Li, Haibo Li, Jie Ding, Hong Li, Ting Wang
OBJECTIVE: To explore the limitation of non-invasive prenatal testing (NIPT) technique through analyzing two false negative cases. METHODS: Chromosomal karyotyping analysis was performed on umbilical cord blood sample derived from case 1 at 24 weeks' gestation and peripheral blood sample derived from the neonate of case 2. Placental tissues of case 1 and peripheral blood sample of case 2 were also analyzed by high-throughput sequencing for copy number variations (CNVs)...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29160690/correction-to-imprinted-nanovelcro-microchips-for-isolation-and-characterization-of-circulating-fetal-trophoblasts-toward-noninvasive-prenatal-diagnostics
#18
Shuang Hou, Jie-Fu Chen, Min Song, Yazhen Zhu, Yu Jen Jan, Szu Hao Chen, Tzu-Hua Weng, Dean-An Ling, Shang-Fu Chen, Tracy Ro, An-Jou Liang, Tom Lee, Helen Jin, Man Li, Lian Liu, Yu-Sheng Hsiao, Peilin Chen, Hsiao-Hua Yu, Ming-Song Tsai, Margareta D Pisarska, Angela Chen, Li-Ching Chen, Hsian-Rong Tseng
No abstract text is available yet for this article.
November 21, 2017: ACS Nano
https://www.readbyqxmd.com/read/29156453/use-of-genetic-testing-after-abnormal-screening-ultrasound-a-descriptive-cohort-study
#19
Alessandra J Ainsworth, Michelle A Holman, Elisabeth Codsi, Myra Wick
BACKGROUND/AIMS: The study aimed to characterize the use of genetic testing after abnormal screening ultrasound. METHODS: We performed a retrospective review of patients undergoing genetic testing after abnormal ultrasound. Genetic evaluation consisted of noninvasive prenatal screening (NIPS) or amniocentesis. Classification of ultrasound findings, type of genetic testing, and results were collected. RESULTS: A total of 139 subjects underwent genetic evaluation after abnormal screening ultrasound...
November 20, 2017: Gynecologic and Obstetric Investigation
https://www.readbyqxmd.com/read/29120459/informative-priors-on-fetal-fraction-increase-power-of-the-noninvasive-prenatal-screen
#20
Hanli Xu, Shaowei Wang, Lin-Lin Ma, Shuai Huang, Lin Liang, Qian Liu, Yang-Yang Liu, Ke-Di Liu, Ze-Min Tan, Hao Ban, Yongtao Guan, Zuhong Lu
PurposeNoninvasive prenatal screening (NIPS) sequences a mixture of the maternal and fetal cell-free DNA. Fetal trisomy can be detected by examining chromosomal dosages estimated from sequencing reads. The traditional method uses the Z-test, which compares a subject against a set of euploid controls, where the information of fetal fraction is not fully utilized. Here we present a Bayesian method that leverages informative priors on the fetal fraction.MethodOur Bayesian method combines the Z-test likelihood and informative priors of the fetal fraction, which are learned from the sex chromosomes, to compute Bayes factors...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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