Results 31 to 40 of about 2,707,119 (197)

Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: A prospective study from a single center in Jiangxi province, China

Frontiers in Genetics, 2023
To evaluate the performance of expanded non-invasive prenatal testing (expanded noninvasive prenatal testing, NIPT-Plus) in screening for fetal chromosomal abnormalities includes aneuploidies and copy number variations, a total of 23,116 pregnant women ...
Yongyi Zou, Yongyi Zou, Chuanxin Feng, Chuanxin Feng, Jiawei Qin, Jiawei Qin, Xinrong Wang, Tingting Huang, Tingting Huang, Yan Yang, Yan Yang, Kang Xie, Kang Xie, Huizhen Yuan, Huizhen Yuan, Shuhui Huang, Shuhui Huang, Bicheng Yang, Bicheng Yang, Wan Lu, Wan Lu, Yanqiu Liu, Yanqiu Liu   +22 more
doaj   +1 more source

Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

BMC Medical Genomics, 2021
Background Noninvasive prenatal testing (NIPT) has been wildly used to screen for common aneuplodies. In recent years, the test has been expanded to detect rare autosomal aneuploidies (RATs) and copy number variations (CNVs).
Yunsheng Ge, Jia Li, Jianlong Zhuang, Jian Zhang, Yanru Huang, Meihua Tan, Wei Li, Jiayan Chen, Yulin Zhou   +8 more
doaj   +1 more source

Noninvasive prenatal diagnosis of fetal RhD status using cell-free fetal DNA in maternal plasma with TaqMan® real-time PCR assay [PDF]

, 2007
Prenatal diagnosis is now part of established obstetric practice in many countries. However, conventional methods of prenatal diagnosis of obtaining fetal tissues for genetic analysis, including amniocentesis and chorionic villus sampling, are invasive
Rekhviashvili, Tea
core   +1 more source

Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations

Frontiers in Genetics, 2022
Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent years; however, there are still significant technical and analytical challenges for clinical use.
Weigang Lv, Lili Liang, Xin Chen, Zhuo Li, Desheng Liang, Huimin Zhu, Yanling Teng, Weijuan Wu, Lingqian Wu, Lianshu Han   +9 more
doaj   +1 more source

Non-invasive prenatal testing (NIPT): is routinization problematic?

BMC Medical Ethics, 2023
Background The introduction and wide application of non-invasive prenatal testing (NIPT) has triggered further evolution of routines in the practice of prenatal diagnosis.
Christoph Rehmann-Sutter, Daniëlle R. M. Timmermans, Aviad Raz   +2 more
doaj   +1 more source

Social and medical need for whole genome high resolution NIPT

Molecular Genetics & Genomic Medicine, 2020
Background Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray allowing high resolution analysis and noninvasive prenatal testing (NIPT) focusing on aneuploidy.
Malgorzata I. Srebniak, Maarten F. C. M. Knapen, Lutgarde C. P. Govaerts, Marike Polak, Marieke Joosten, Karin E. M. Diderich, Laura J. C. M. van Zutven, Krista A. K. E. Prinsen, Sam Riedijk, Attie T. J. I. Go, Robert‐Jan H. Galjaard, Lies H. Hoefsloot, Diane Van Opstal   +12 more
doaj   +1 more source

In Silico Fragment Size Selection for Enhanced Fetal Fraction and Abnormality Origin Discernment Using Pair-End Sequencing of Maternal Plasma DNA. [PDF]

J Clin Lab Anal
This study presents a new bioinformatics pipeline for noninvasive prenatal testing (NIPT) that filters DNA fragments to significantly improve the fetal DNA fraction. This enhanced method successfully analyzed samples previously rejected for low fetal fraction and could distinguish between fetal and maternal chromosomal abnormalities.
Yang L, Zhang J, Zhang J, Jin Q, Wang Y, Wu Q, Shi F, Wang R, Liu Y, Cai N, Wang X, Qiang R.   +11 more
europepmc   +2 more sources

Statutory health insurance coverage of noninvasive prenatal testing (NIPT)

, 2021
In its position paper on statutory health insurance coverage of what is referred to as noninvasive prenatal testing (NIPT), the German Society of Midwifery Science (DGHWi) argues for the tests to be covered by statutory health insurance as this would ...
Tegethoff, D, German Society of Midwifery Science, Deutsche Gesellschaft für Hebammenwissenschaft e.V. (DGHWi), Schlüter-Cruse, M, Beckmann, L, Skeide, A   +5 more
core   +1 more source

Prenatal Invasive Fetal Karyotyping in the Era of First Trimester Screening And Noninvasive Prenatal Testing (NIPT) [PDF]

International Journal of Gynecology & Clinical Practices, 2016
Objective: To validate indications for invasive fetal karyotyping in the era of first trimester screening and non invasive prenatal testing. Materials and Methods: We conducted single centre retrospective study between 2009 and 2014. Patients were referred for either first trimester screening or second/ third trimester ultrasound screening. We included
Christel Eckmann-Scholz, C. Berninghaus, A. Farrokh, N. Maass, I. Alkatotut   +4 more
openaire   +1 more source

Validation of a New Protocol to Collect and Isolate Plasma from Pregnant Women for Noninvasive Prenatal Testing (NIPT) [PDF]

The Journal of Applied Laboratory Medicine, 2020
Abstract Background Most laboratories use specialized tubes (e.g., Streck) to recover circulating cell-free DNA (ccfDNA) for noninvasive prenatal testing (NIPT). We validated a low cost, simple procedure for collecting NIPT samples in remote laboratories that avoids highspeed centrifugation.
Sylvie, Giroux, Mylene, Badeau, Julie, Jeuken, Andre, Caron, Joël, Girouard, François, Rousseau   +5 more
openaire   +2 more sources