Results 11 to 20 of about 17,532 (272)

The Art (and Science) of Individualized Selection of Non-Invasive Prenatal Screening (NIPS). [PDF]

Int J Womens Health
Non-invasive prenatal screening (NIPS), utilizing cell-free fetal DNA (cffDNA), has revolutionized prenatal care, transitioning from primarily detecting common fetal aneuploidies to encompassing detection of an increasingly broader spectrum of autosomal dominant and recessive conditions. This Commentary delves into the evolution of NIPS, emphasizes the
Hsieh V, Sherer DM, Davydovych K, Kheyman M, Dalloul M.   +4 more
europepmc   +7 more sources

Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives [PDF]

European Journal of Human Genetics, 2021
AbstractDue to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study ...
Karuna R. M. van der Meij, Annabel Njio, Linda Martin, Janneke T. Gitsels-van der Wal, Mireille N. Bekker, Elsbeth H. van Vliet-Lachotzki, A. Jeanine E. M. van der Ven, Adriana Kater-Kuipers, Danielle R. M. Timmermans, Erik A. Sistermans, Robert-Jan H. Galjaard, Lidewij Henneman   +11 more
openaire   +5 more sources

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening [PDF]

European Journal of Human Genetics, 2015
This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve ...
Dondorp, W., Wert, G. de, Bombard, Y., Bianchi, D.W., Bergmann, C., Borry, P., Chitty, L.S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H.C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjaerg, L., , C.G. van el, Cornel, M.C., European Soc Human Genetics, American Soc Human Genetics   +23 more
openaire   +10 more sources

The Effect of Elevated Alanine Transaminase on Non-invasive Prenatal Screening Failures. [PDF]

Front Med (Lausanne), 2022
ObjectiveTo determine the effects of alanine transaminase (ALT) levels on the screening failure rates or “no calls” due to low fetal fraction (FF) to obtain a result in non-invasive prenatal screening (NIPS).MethodsNIPS by sequencing and liver enzyme measurements were performed in 7,910 pregnancies at 12–26 weeks of gestation.
Chen P, Qiao L, Zhang S, Jin J, Cao J, Zhang Y, Tang H, Yu Z, Shi J, Yin J, Liang Y, Wu X.   +11 more
europepmc   +4 more sources

A study on non-invasive prenatal screening for the detection of aneuploidy

Ginekologia Polska, 2022
To explore the feasibility of clinical application of non-invasive prenatal screening to detect aneuploidy diseases.A total of 14,574 singleton pregnant women who underwent Non-invasive prenatal testing (NIPT) in the Southern Hospital from 2015 to June 2017 were selected, and 6471 pregnant women with twin pregnancy who underwent NIPT in the laboratory ...
Yao, Chen, Fang, Yang, Xuan, Shang, Siping, Liu, Meng, Li, Mei, Zhong   +5 more
openaire   +4 more sources

RHD exon 5, 7 and 10 targeted non-invasive prenatal screening of fetal Rhesus-D (RhD) in selected RhD negative pregnant women in Ethiopia [PDF]

PLoS ONE, 2022
Background A majority of non-invasive prenatal screening studies determining fetal RhD status have been tested on Caucasian and Asian populations, but limited or no studies have been conducted on the Ethiopian population. In the current study, we carried
Birhanu Niguse, Mihertab Ermias, Solomon Berhanu, Lemma Abayneh, Bekele Chakiso, Riyaz Ahmad Rather   +5 more
doaj   +3 more sources

Trends in Non-invasive Prenatal Screening and Invasive Testing in Denmark (2000–2019) and Israel (2011–2019) [PDF]

Frontiers in Medicine, 2021
Introduction: Following the wide distribution of non-invasive prenatal genetic screening (NIPS), numerous studies have reported a decline in total invasive tests in the recent years, up to 50–70% in some countries.
Lena Sagi-Dain, Amihood Singer, Olav B. Petersen, Olav B. Petersen, Stina Lou, Ida Vogel, Ida Vogel   +6 more
doaj   +2 more sources

Comprehensive non-invasive prenatal screening for pregnancies with elevated risks of genetic disorders: protocol for a prospective, multicentre study [PDF]

BMJ Open, 2021
Introduction Chromosomal abnormalities and monogenic disorders account for ~15%–25% of recognisable birth defects. With limited treatment options, preconception and prenatal screening were developed to reduce the incidence of such disorders.
He-Feng Huang, Hua Wang, Dan Zhang, Hui Xi, Yanting Wu, Qiong Luo, Jinglan Zhang, Xiaoqiang Cai, Chenming Xu, Songchang Chen   +9 more
doaj   +2 more sources

Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age. [PDF]

BMC Pregnancy Childbirth, 2021
Abstract Background: Non-invasive prenatal screening (NIPS) is widely used as the alternative choice for pregnant women at high-risk of fetal aneuploidy. However, whether NIPS has a good detective efficiency for pregnant women at advanced maternal age (AMA) has not been fully studied especially in Chinese women.
Zhu H, Jin X, Xu Y, Zhang W, Liu X, Jin J, Qian Y, Dong M.   +7 more
europepmc   +6 more sources

Non-Invasive Screening Tools for Down’s Syndrome: A Review

Diagnostics, 2013
Down’s syndrome (DS) is the most common genetic cause of developmental delay with an incidence of 1 in 800 live births, and is the predominant reason why women choose to undergo invasive prenatal diagnosis.
Neil D. Avent, Timothy G. Overton, Kelly A. Sillence, Llinos A. Roberts, Tracey E. Madgett   +4 more
doaj   +2 more sources