Results 71 to 80 of about 42,912 (201)

STR profiling and Copy Number Variation analysis on single, preserved cells using current Whole Genome Amplification methods [PDF]

, 2017
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.
Cornelis, Senne, Deforce, Dieter, Deleye, Lieselot, Tilleman, Laurentijn, Van Nieuwerburgh, Filip, Vander Plaetsen, Ann-Sophie   +5 more
core   +2 more sources

The importance of biochemical and ultrasound markers in prenatal diagnosis: current methods and development perspectives

Quality in Sport
This paper explores the role of biochemical and ultrasound markers in prenatal diagnosis, emphasizing their importance in early detection of chromosomal and structural abnormalities in the fetus.
Adam Torbicki, Piotr Gaworek, Michał Korpalski, Krzysztof Pawlikowski, Marek Żygłowicz, Dominik Augustyn, Maria Pawluczyk, Mateusz Marciniak, Alicja Trybuła   +8 more
doaj   +1 more source

Prenatal Diagnosis of Chromosome Abnormalities: A 13-Year Institution Experience

Diagnostics, 2012
Objective: To analyze trends in screening and invasive prenatal diagnosis of chromosome abnormalities (CA) over a 13-year period and correlate them to changes in the national prenatal screening policy.
Carmen Comas, Mónica Echevarria, María Ángeles Rodríguez, Ignacio Rodríguez, Bernat Serra, Vincenzo Cirigliano   +5 more
doaj   +1 more source

Enlarged NT (≥3.5 mm) in the first trimester - Not all chromosome aberrations can be detected by NIPT [PDF]

, 2016
__Background:__ Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray ...
Bos, M.J. (Marnix), Diderich, K.E.M. (Karin), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Govaerts, L.C. (Lutgarde), Joosten, A-M.S (Marieke), Knapen, M.F.C.M. (Maarten), Koningen, M. (Mieke), Looye-Bruinsma, G.A.G. (Gerda), Srebniak, M.I. (Malgorzata), Van Opstal, A.R.M. (Diane), Wit, M.C. (Merel) de   +11 more
core   +1 more source

Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples. [PDF]

PLoS ONE, 2014
OBJECTIVE: As the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT) for fetal aneuploidies, Sequenom Laboratories has been able to collect the largest clinical population experience data to date, including >
Ron M McCullough, Eyad A Almasri, Xiaojun Guan, Jennifer A Geis, Susan C Hicks, Amin R Mazloom, Cosmin Deciu, Paul Oeth, Allan T Bombard, Bill Paxton, Nilesh Dharajiya, Juan-Sebastian Saldivar   +11 more
doaj   +1 more source

Performance of cell free DNA as a screening tool based on the results of first trimester screening

Molecular Cytogenetics
The advent of non-invasive prenatal testing (NIPT) in the screening of fetal abnormalities has optimized prenatal care and decreased the rate of invasive diagnostic tests. In this retrospective descriptive study, we began with 1874 singleton pregnancies.
Mahtab Motevasselian, Mohammad Amin Omrani, Soraya Saleh Gargari, Sarang Younesi, Mohammad Mahdi Taheri Amin, Pourandokht Saadati, Soudabeh Jamali, Mohammad-Hossein Modarresi, Shahram Savad, Majid Rahmani, Saloomeh Amidi, Saeed Delshad, Fariba Navidpour, Samira Chagheri, Yalda Mohammadi, Sheyda Khalilian, Solat Eslami, Soudeh Ghafouri-Fard   +17 more
doaj   +1 more source

Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies

BMC Pregnancy and Childbirth, 2022
Background A fast adoption of a non–invasive prenatal testing (NIPT) in clinical practice is a global tendency last years. Firstly, in Russia according a new regulation it was possible to perform a widescale testing of pregnant women in chromosomal ...
Elena E. Baranova, Olesya V. Sagaydak, Alexandra M. Galaktionova, Ekaterina S. Kuznetsova, Madina T. Kaplanova, Maria V. Makarova, Maxim S. Belenikin, Anton S. Olenev, Ekaterina N. Songolova   +8 more
doaj   +1 more source

Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers [PDF]

, 2017
BACKGROUND: Non-invasive prenatal diagnosis (NIPD) for sickle-cell disorder (SCD) is moving closer to implementation and studies considering stakeholder preferences are required to underpin strategies for offering NIPD in clinical practice.
Chitty, LS, Forya, F, Hill, M, Morris, S, Oteng-Ntim, E, Petrou, M   +5 more
core   +1 more source

Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies [PDF]

, 2016
Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies.
Cooper, Sally-Ann, Jacobs, Myrthe, McGowan, Ruth, Nelson, Scott, Pell, Jill P.   +4 more
core   +1 more source

Public viewpoints on new non-invasive prenatal genetic tests [PDF]

Public Understanding of Science, 2011
Prenatal screening programmes have been critiqued for their routine implementation according to clinical rationale without public debate. A new approach, non-invasive prenatal diagnosis (NIPD), promises diagnosis of fetal genetic disorders from a sample of maternal blood without the miscarriage risk of current invasive prenatal tests (e.g ...
Farrimond, Hannah, Kelly, Susan E.
openaire   +3 more sources