Results 31 to 40 of about 111,518 (268)

Perinatal outcomes of prenatal cases testing positive for trisomy 9 by noninvasive prenatal testing

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objectives: To evaluate the performance of non-invasive prenatal testing (NIPT) for the detection of fetal trisomy 9 in prenatal screening and to investigate the prenatal appearances and genetic counseling of trisomy 9 fetuses. Materials and methods: The
Hui Li, Li Lu, Yanyi Yao, Tangxinzi Gao, Yufei Jiang, Chengcheng Zhang, Nian Liu, Jieping Song, Wei Wang, Lijun Liu   +9 more
doaj   +1 more source

Noninvasive prenatal testing in CLL during pregnancy: A cautionary tale [PDF]

eJHaem
Jorn L. J. C. Assmann, Diane Van Opstal, Karin E. M. Diderich, Nicole Larmonie, Yorick Sandberg   +4 more
doaj   +2 more sources

Noninvasive prenatal testing in megacity

City Healthcare, 2021
Introduction. The article presents an analysis of the use of non-invasive prenatal testing for chromosomal abnormalities in the fetal extracellular DNA in the blood of pregnant women in Moscow. Materials and methods. When processing materials and research results, authors considered all available clinical data: findings of an ultrasound examination ...
Anton S. Olenev, Ekaterina N. Songolova, Alfina A. Yakshibaeva   +2 more
openaire   +2 more sources

Value of noninvasive prenatal testing in the detection of rare fetal autosomal abnormalities.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2023
OBJECTIVES To evaluate the value of noninvasive prenatal testing (NIPT) in the screening of rare autosomal abnormalities and provide further support for the clinical application of NIPT.
Miaomiao Zhang, Junxiang Tang, Jingran Li, Chaohong Wang, R. Wei, Yuqin Fang, Jiansheng Zhu   +6 more
semanticscholar   +1 more source

Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting

Prenatal Diagnosis, 2023
Carrier screening with reflex to single‐gene noninvasive prenatal testing (sgNIPT) is an alternative approach for identifying pregnancies at risk for inherited autosomal recessive conditions without the need for a sample from the reproductive partner ...
Julia Wynn, Jennifer Hoskovec, R. Carter, Meredith Ross, S. Perni   +4 more
semanticscholar   +1 more source

Emerging Considerations for Noninvasive Prenatal Testing [PDF]

Clinical Chemistry, 2017
Approaches to prenatal screening for common fetal chromosomal aneuploidies are undergoing a dynamic transformation in response to a greater understanding surrounding advances in the clinical utilities and limitations of noninvasive prenatal testing (NIPT).10 NIPT has been clinically adopted as a screening tool for aneuploidies, such as Down, Edwards ...
Nichole, Korpi-Steiner, Rossa W K, Chiu, Subhashini, Chandrasekharan, Lyn S, Chitty, Mark I, Evans, Judith A, Jackson, Glenn E, Palomaki   +6 more
openaire   +2 more sources

Incorporating DNA Sequencing into Current Prenatal Screening Practice for Down's Syndrome [PDF]

, 2013
PMCID: PMC3604109This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are ...
AB Sparks, B Zimmerman, Cees Oudejans, DW Bianchi, GE Palomaki, J Morris, JK Morris, JK Morris, JK Morris, Jonathan P. Bestwick, KH Nicolaides, Nicholas J. Wald, NJ Wald, NJ Wald, NJ Wald, RWK Chiu, S Dan   +16 more
core   +7 more sources

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

Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study

Prenatal Diagnosis, 2023
To examine the extent to which sex chromosomes are included in current noninvasive prenatal testing (NIPT) and the reporting practices with respect to fetal chromosomal sex and sex chromosome aberrations (SCAs), in addition to an update on the general ...
E. Steffensen, A. Skakkebæk, K. Gadsbøll, Olav Bjørn Petersen, T. Westover, H. Strange, Ida Vogel   +6 more
semanticscholar   +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