Results 131 to 140 of about 8,134 (208)

Decision-making by expectant parents: NIPT, NIPD, and current methods of prenatal screening for Down’s Syndrome (Evidence Review) [PDF]

, 2017
The objective of this review is to examine research exploring the decisions that women and couples make about prenatal screening and testing and the factors that influence their decisions.
Thomas, Gareth
core   +1 more source

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

, 2015
status ...
Aad Tibben, Alison Hall, Anneke Lucassen, Borut Peterlin, Carla G van El, Carsten Bergmann, Diana W Bianchi, Dragica Radojkovic, Florence Fellmann, Francesca Forzano, Guido de Wert, Heidi C Howard, Kelly Ormond, Lidewij Henneman, Lisbeth Tranebjærg, Lyn S Chitty, Maria Soller, Martina C Cornel, Pascal Borry, Wolf Rogowski, Wybo Dondorp, Wybo Dondorp, Yvonne Bombard   +22 more
core   +2 more sources

Obstetrician and Gynecologist Utilization of the NIPT Expanded Testing Option [PDF]

, 2015
Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum.
Mayes, Sarah, BA
core  

The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform [PDF]

, 2014
Objective: Recent non-invasive prenatal testing (NIPT) technologies are based on next-generation sequencing (NGS). NGS allows rapid and effective clinical diagnoses to be determined with two common sequencing systems: Illumina and Ion Torrent platforms ...
A Borrell, A Fortuny, A Tabor, AB Sparks, Ahong Zhang, Ayang Wu, B Langmead, BF Crandall, Byung Chul Kim, C Liao, CJ McNamara, DW Bianchi, G Ashoor, GE Palomaki, GP Henry, H Li, Hailing Zheng, Hee Jae Joo, Hongliang Chen, Huan Xu, JA Sainz, JF Boland, Jin Lin, Jinchun Chen, Jong Bhak, K Song, KC Chan, KH Nicolaides, KO Kagan, L Berktold, M Ehrich, M Muñoz-Cortes, M Smid, M van den Berg, MA Quail, ME Norton, P Benn, Qiwei Guo, R Li, S Chen, S Morgan, Shengmao Quan, Sin-Gi Park, Sinuhe Hahn, TK Lau, Xingqiang Zhu, Y Wang, Yihan Li, YM Lo, YM Lo, Young Joo Jeon, Yulin Zhou   +51 more
core   +2 more sources

Non-invasive prenatal testing (NIPT): a call for change in reporting practices

McGill Journal of Medicine
The use of non-invasive prenatal testing (NIPT) technology has revolutionized the practice of prenatal screening. The assay’s validity and reliability have been demonstrated in both low- and high-risk pregnancies.
Samuel Wilson, Jacques Balayla
doaj   +1 more source

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways [PDF]

, 2016
OBJECTIVE: Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.
Chitty, LS, Drury, S, Hill, M, Jenkins, L, Mason, S, Morris, S, Verhoef, TI   +6 more
core   +1 more source

What's new in guidance? Updates in obstetrics

The Obstetrician &Gynaecologist, Volume 28, Issue 1, Page 14-15, January 2026.
Sophie Alexandra Relph
wiley   +1 more source

Genetic testing in Marfan syndrome [PDF]

, 2016
Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core   +1 more source

Comprehensive Prenatal Genetic Analysis: From Non-Invasive Prenatal Testing to Whole-Exome Sequencing in a High-Risk Pregnancy with Gaucher Disease—A Case Report and Literature Review

Journal of Mind and Medical Sciences
Gaucher disease (GD) is the most common lysosomal storage disorder, with an increased prevalence among Ashkenazi Jews. It is an autosomal recessive metabolic disorder caused by pathogenic variants in the GBA1 gene. In this study, we present the case of a
Ileana-Delia Săbău, Laurențiu-Camil Bohîlțea, Mihaela Țurcan, Adelina Silvana Gheorghe, Maria Riza, Mihai Mitroi, Antoanela Curici, Iuliana Ceaușu   +7 more
doaj   +1 more source

Cost-effectiveness of prenatal screening and diagnostic strategies for Down syndrome: A microsimulation modeling analysis.

PLoS ONE, 2019
OBJECTIVES:Down syndrome (DS) is the most frequently occurring fetal chromosomal abnormality and different prenatal screening strategies are used for determining risk of DS worldwide.
Wei Zhang, Tima Mohammadi, Julie Sou, Aslam H Anis   +3 more
doaj   +1 more source