keyword
MENU ▼
Read by QxMD icon Read
search

non invasive prenatal test

keyword
https://www.readbyqxmd.com/read/29215710/impact-of-nationwide-health-insurance-coverage-for-non-invasive-prenatal-testing
#1
Valentina Vinante, Bettina Keller, Evelyn A Huhn, Dorothy Huang, Olav Lapaire, Gwendolin Manegold-Brauer
OBJECTIVE: To describe the changes in women's choices for prenatal testing after the introduction of nationwide health insurance coverage for non-invasive prenatal testing (NIPT) in Switzerland. METHODS: The present retrospective study reviewed data from all women with singleton pregnancies who presented at the prenatal unit of Basel University Hospital, Switzerland, for first-trimester screening between July 15, 2014, and December 31, 2015. Women were divided into three categories according to their risk for aneuploidy, and the uptake of NIPT in the period before and after the introduction of the nationwide coverage for NIPT was compared...
December 7, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29215049/str-profiling-and-copy-number-variation-analysis-on-single-preserved-cells-using-current-whole-genome-amplification-methods
#2
Ann-Sophie Vander Plaetsen, Lieselot Deleye, Senne Cornelis, Laurentijn Tilleman, Filip Van Nieuwerburgh, Dieter Deforce
The growing interest in liquid biopsies for cancer research and cell-based non-invasive prenatal testing (NIPT) invigorates the need for improved single cell analysis. In these applications, target cells are extremely rare and fragile in peripheral circulation, which makes the genetic analysis very challenging. To overcome these challenges, cell stabilization and unbiased whole genome amplification are required. This study investigates the performance of four WGA methods on single or a limited number of cells after 24 hour of Streck Cell-Free DNA BCT preservation...
December 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29211324/non-invasive-prenatal-testing-for-fetal-inheritance-of-maternal-%C3%AE-thalassaemia-mutations-using-targeted-sequencing-and-relative-mutation-dosage-a-feasibility-study
#3
Li Xiong, Angela N Barrett, Rui Hua, Sherry S Y Ho, Li Jun, K C Allen Chan, Zhong Mei, Mahesh Choolani
OBJECTIVE: To evaluate whether targeted sequencing and relative mutation dosage can be used to correctly diagnose inheritance of maternal β-thalassaemia mutations in cell-free DNA. DESIGN: Feasibility study using samples collected in a prenatal clinic. SETTING: South East Asia. POPULATION: Couples where both partners were known to be carriers of one of four common β-thalassaemia mutations or an HbE mutation, and therefore at risk of carrying a fetus affected with β-thalassaemia...
December 6, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29209991/current-emerging-and-future-applications-of-digital-pcr-in-non-invasive-prenatal-diagnosis
#4
Juliette Nectoux
Digital PCR (dPCR) approaches have been developed for the detection of nucleic acids of low abundance, such as cell-free DNA, and represent an attractive and sensitive alternative to conventional methods, particularly in the field of non-invasive prenatal diagnosis (NIPD). In this review, we present the principle of dPCR and its applications in the field of prenatal diagnosis from current and emerging uses, such as fetal gender determination, rhesus blood group D antigen genotyping, or monogenic disorders prenatal testing, to future applications, such as the diagnosis and monitoring of pregnancy-related disorders...
December 5, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29205694/fetal-sex-discordance-in-a-monochorionic-twin-pregnancy-following-intracytoplasmic-sperm-injection-a-case-report-of-chimerism-and-review-of-the-literature
#5
Nihal Ş Uysal, Çağrı Gülümser, Zerrin Y Çelik, Hulusi B Zeyneloğlu, Filiz F B Yanık
A 39-year-old woman who became pregnant with twins after an intracytoplasmic sperm injection was referred at the ninth gestational week to determine chorionicity. Ultrasonographic examination showed a monochorionic diamniotic twin pregnancy. First trimester nuchal translucency measurements of the fetuses were 1.6 and 2.7 mm. A non-invasive prenatal test was performed and revealed low risk. One fetus appeared to be female and the other male at the 14th gestational week. Second trimester anatomic scanning results were otherwise normal for both fetuses...
December 3, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29199274/recent-developments-in-genetics-and-medically-assisted-reproduction-from-research-to-clinical-applications
#6
REVIEW
J C Harper, K Aittomäki, P Borry, M C Cornel, G de Wert, W Dondorp, J Geraedts, L Gianaroli, K Ketterson, I Liebaers, K Lundin, H Mertes, M Morris, G Pennings, K Sermon, C Spits, S Soini, A P A van Montfoort, A Veiga, J R Vermeesch, S Viville, M Macek
Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing...
December 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29193652/decisions-about-aneuploidy-screening-why-women-s-reasons-are-important
#7
Dafina Petrova, Rocio Garcia-Retamero
Several tests exist that can help detect Down syndrome and other chromosomal disorders during the first weeks of pregnancy. Non-invasive prenatal testing (NIPT) is gaining popularity because of its improved accuracy over traditional screening methods and its improved safety compared to invasive tests that carry some risk of miscarriage. In a recent study conducted in Hong Kong, Cheng et al. recruited women at high or intermediate risk of Down syndrome according to their 1st or 2nd trimester screening. This article is protected by copyright...
November 28, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29188632/-advance-in-clinical-application-of-non-invasive-prenatal-screening-using-cell-free-fetal-dna
#8
Jilin Hu, Baosheng Zhu
Non-invasive prenatal screening using cell-free fetal DNA (NIPS) has been integrated into the prenatal health care only in a short span of five years, and the guidelines provided by professional bodies have been continuously updated. The American College of Medical Genetics and Genomics has made a statement on NIPS in July, 2016, suggesting that the NIPS can replace conventional screening for Patau, Edwards and Down syndromes in a continuum of gestational age and for any maternal age, except those who are significantly obese...
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/29188622/-two-false-negative-cases-in-noninvasive-prenatal-testing-for-fetal-chromosomal-aneuploidies
#9
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/29179272/-analysis-of-non-invasive-prenatal-screening-detection-in-fetal-chromosome-aneuploidy
#10
A J Cai, C F Zhu, S W Xue, S Y Cui, S Z Qu, N Liu, X D Kong
Objective: To evaluate the efficacy of non-invasive prenatal screening (NIPS) in the detection of fetal aneuploidies. Methods: Cell free DNA was sequenced in 5 566 pregnant women to identify the fetal aneuploidies in the First Affiliated Hospital of Zhengzhou University from January 1(st), 2015 to March 15(th), 2016. Among them, 5 230 (93.96%, 5 230/5 566) were singleton pregnancies and 336 (6.04%, 336/5 566) were twin pregnancies. In singleton pregnancies, 1 809 (34.59%, 1 809/5 230) were women with advanced maternal age, and 3 421 (65...
November 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29169104/reconciling-ethical-and-economic-conceptions-of-value-in-health-policy-using-the-capabilities-approach-a-qualitative-investigation-of-non-invasive-prenatal-testing
#11
Mia Kibel, Meredith Vanstone
When evaluating new morally complex health technologies, policy decision-makers consider a broad range of different evaluations, which may include the technology's clinical effectiveness, cost effectiveness, and social or ethical implications. This type of holistic assessment is challenging, because each of these evaluations may be grounded in different and potentially contradictory assumptions about the technology's value. One such technology where evaluations conflict is Non-Invasive Prenatal Testing (NIPT)...
November 16, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/29144536/isolation-and-whole-genome-sequencing-of-fetal-cells-from-maternal-blood-towards-the-ultimate-non-invasive-prenatal-testing
#12
Fang Chen, Ping Liu, Ying Gu, Zhu Zhu, Amulya Nanisetti, Zhangzhang Lan, Zhiwei Huang, Sophie Jia Liu, Xiongbin Kang, Yuqing Deng, Liqiong Luo, Dan Jiang, Yong Qiu, Jianchang Pan, Jun Xia, Ken Xiong, Chao Liu, Lin Xie, Qianyu Shi, Jing Li, Xiuqing Zhang, Wei Wang, Snezana Drmanac, Hui Jiang, Radoje Drmanac, Xun Xu
OBJECTIVE: To develop a methodology of isolating fetal cells from maternal blood and use deep sequencing demonstrating the promise for more complete and accurate genetic screening compared to other non-invasive prenatal testing (NIPT). METHODS: Here in this study, we developed a double negative selection (DNS) procedure to unbiasedly enrich fetal cells. After validated by short tandem repeat (STR), the isolated CFCs were subjected to deep whole genome sequencing analysis (WGS)...
November 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29131362/sex-discordance-identification-following-non-invasive-prenatal-testing
#13
Ebony J Richardson, Fergus P Scott, Andrew C McLennan
OBJECTIVE: To characterize genotype-phenotype discordance identified in the routine clinical setting, and explore the associated diagnostic and counseling challenges. METHOD: Cases were derived from a cohort of pregnant women who attended a multi-site specialist prenatal screening and ultrasound service for non-invasive prenatal testing by cell-free DNA analysis and mid-trimester fetal morphology assessment. RESULTS: Seven cases of genotype-phenotype discordance were identified from a cohort of 12,919 women between June 2013 - March 2017 (incidence 1/1845 pregnancies)...
November 13, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29126132/cost-effective-and-accurate-method-of-measuring-fetal-fraction-using-snp-imputation
#14
Minjeong Kim, Jai-Hoon Kim, Kangseok Kim, Sunshin Kim
Motivation: With the discovery of cell-free fetal DNA in maternal blood, the demand for non-invasive prenatal testing (NIPT) has been increasing. To obtain reliable NIPT results, it is important to accurately estimate the fetal fraction. In this study, we propose an accurate and cost-effective method for measuring fetal fractions using single-nucleotide polymorphisms (SNPs). Results: A total of 84 samples were sequenced via semiconductor sequencing using a 0.3x sequencing coverage...
November 8, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29125674/women-s-preference-for-non-invasive-prenatal-dna-testing-nipt-versus-chromosomal-microarray-after-screening-for-down-syndrome-a-prospective-study
#15
Yvonne Kwun Yue Cheng, Wing Cheong Leung, Tak Yeung Leung, Kwong Wai Choy, Rossa Wai Kwun Chiu, Tsz-Kin Lo, Ka Yin Kwok, Daljit Singh Sahota
OBJECTIVE: To examine preference for follow-up test in women screened high or intermediate risk in 1(st) or 2(nd) trimester Down syndrome screening. DESIGN: Prospective cohort study. SETTING: Three public hospitals in Hong Kong, China. SAMPLE: Women with term high risk ≥ 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). METHODS: Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing...
November 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#16
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29118296/mismatch-between-fetal-sexing-and-birth-phenotype-a%C3%A2-case-of-complete-androgen-insensitivity-syndrome
#17
Keisuke Yoshii, Yasuhiro Naiki, Yumiko Terada, Maki Fukami, Reiko Horikawa
With advancing maternal age, the number of prenatal genetic tests is increasing in many countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non-invasive prenatal testing, can disclose fetal chromosomal sex, although these tests were originally designed to prenatally diagnose chromosomal aneuploidies, such as trisomy 21, 18 and 13. Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder caused by an androgen receptor dysfunction leading to hormone resistance...
November 9, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/29111614/has-non-invasive-prenatal-testing-impacted-termination-of-pregnancy-and-live-birth-rates-of-infants-with-down-syndrome
#18
Melissa Hill, Angela Barrett, Mahesh Choolani, Celine Lewis, Jane Fisher, Lyn S Chitty
BACKGROUND: Implementation of non-invasive prenatal testing (NIPT) as a highly accurate aneuploidy screening test has raised questions around whether the high uptake may result in more terminations of pregnancies and fewer births of children with Down Syndrome (DS). AIM: Investigate the impact of NIPT on termination and live birth rates for DS. METHODS: Literature reporting pregnancy outcomes following NIPT was reviewed. Termination rates were calculated for women with a high-risk NIPT result for DS...
November 7, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29093756/a-case-of-placental-trisomy-18-mosaicism-causing-a-false-negative-nipt-result
#19
Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin Oy, Aihua Yin
Background: The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a result of its increased sensitivity and specificity. However, false positive and false negative results still exist. Case presentation: We presented a case in which the non-invasive prenatal testing results were normal at 15 gestational age (GA), but an ultrasound examination at 30GA showed that the fetus had heart abnormalities, and the third trimester ultrasound at 33GA noted multiple anomalies including a 3...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29090507/implications-of-failure-to-achieve-a-result-from-prenatal-maternal-serum-cell-free-dna-testing-a-historical-cohort-study
#20
Noni Chan, Maria-Elisabeth Smet, Rhiannon Sandow, Fabricio da Silva Costa, Andrew McLennan
OBJECTIVE: To investigate the pregnancy outcomes in a cohort of women who failed to obtain a result in non-invasive prenatal testing (NIPT). DESIGN: Historical cohort study. SETTING: A multicenter private practice in Sydney, Australia. POPULATION: Women who failed to obtain a result from NIPT (n=131). METHODS: The maternal characteristics, antenatal investigations and pregnancy outcomes for these women were compared to those who obtained a result at the same practice and to the general Australian obstetric population...
November 1, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
keyword
keyword
35109
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"