Results 21 to 30 of about 518 (105)

An online tool for fetal fraction prediction based on direct size distribution analysis of maternal cell-free DNA

BioTechniques, 2021
The discovery of circulating fetal DNA in the plasma of pregnant women has greatly promoted advances in noninvasive prenatal testing. Screening performance is enhanced with higher fetal fraction and analysis of samples whose fetal DNA fraction is lower ...
Luca Bedon, Josef Vuch, Simeone Dal Monego, Germana Meroni, Vanna Pecile, Danilo Licastro   +5 more
doaj   +1 more source

A multivariate modeling method for the prediction of low fetal fraction before noninvasive prenatal testing

Science Progress, 2021
Objective: To investigate factors associated with fetal fraction and to develop a new predictive method for low fetal fraction before noninvasive prenatal testing. Methods: The study was a retrospective cohort analysis based on the results of noninvasive
Liang Hu, Yuanyuan Pei, Xiaojin Luo, Lijuan Wen, Hui Xiao, Jinxing Liu, Liping Wu, Gaochi Li, Fengxiang Wei   +8 more
doaj   +1 more source

Terminal deletion of chromosome 13 in a fetus with normal NIPT: The added value of invasive prenatal diagnosis in the NIPT era

Clinical Case Reports, 2020
In the age of noninvasive prenatal testing, there is still an important role for invasive prenatal diagnosis, even for chromosomes 13, 18, and 21.
Evy Vervecken, Bettina Blaumeiser, Tina Vanderheyden, Jan Hauspy, Katrien Janssens   +4 more
doaj   +1 more source

Prenatal identification of an inverted duplicated 13q marker chromosome with a neocentromere

Molecular Cytogenetics, 2023
In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neocentromere, detected during genetic analysis ...
Liselot van der Laan, Daniel R. Hoekman, Esther J. Wortelboer, Marcel M. A. M. Mannens, Angelique J. A. Kooper   +4 more
doaj   +1 more source

Fragmentomic cfDNA Patterns in Noninvasive Prenatal Testing and Beyond

Journal of Biomedicine and Translational Research, 2021
The release of fetoplacental cell-free DNA (cfDNA) into the maternal bloodstream opened up new avenues towards noninvasive prenatal testing (NIPT) for aneuploidies, hereditary DNA mutations and other pregnancy-related developmental disorders ...
Kavish Kohabir, Rob Wolthuis, Erik A. Sistermans   +2 more
doaj   +1 more source

Obstetrician and Gynecologist Utilization of the Noninvasive Prenatal Testing Expanded Option

American Journal of Perinatology Reports, 2016
Objective 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.
Sarah Mayes, Syed Hashmi, Mark A. Turrentine, Sandra Darilek, Lara A. Friel, Jennifer Czerwinski   +5 more
doaj   +1 more source

Patient attitudes and preferences about expanded noninvasive prenatal testing

Frontiers in Genetics, 2023
Introduction: Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) is typically carried out to screen for common fetal chromosomal anomalies, with the option to screen for a wider range of chromosomal changes (expanded NIPT) becoming ...
Marie-Line Dubois, Patricia D. Winters, Marc-André Rodrigue, Jean Gekas, Jean Gekas   +4 more
doaj   +1 more source

Noninvasive Prenatal Paternity Testing (NIPAT) through Maternal Plasma DNA Sequencing: A Pilot Study. [PDF]

PLoS ONE, 2016
Short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) have been already used to perform noninvasive prenatal paternity testing from maternal plasma DNA.
Haojun Jiang, Yifan Xie, Xuchao Li, Huijuan Ge, Yongqiang Deng, Haofang Mu, Xiaoli Feng, Lu Yin, Zhou Du, Fang Chen, Nongyue He   +10 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

Complete Androgen Insensitivity Syndrome: A Rare Case of Prenatal Diagnosis

Revista Brasileira de Ginecologia e Obstetrícia, 2021
With the widespread uptake of noninvasive prenatal testing (NIPT), a larger cohort of women has access to fetal chromosomal sex, which increases the potential to identify prenatal sex discordance. The prenatal diagnosis of androgen insensitivity syndrome
Maria Liz Coelho, Elisa Soares, Marília Freixo, Pedro Brandão, Carla Marinho, Juliana Rocha, Graça Rodrigues   +6 more
doaj   +1 more source