Results 21 to 30 of about 2,707,119 (197)

Detection and Clinical Significance of Chromosomal Mosaicism in Prenatal Diagnosis: A Retrospective Study From a Prenatal Diagnosis Center. [PDF]

J Clin Lab Anal
This retrospective study of 79 prenatal mosaicism cases found that noninvasive prenatal testing (NIPT) had significantly higher sensitivity (90.74%) than first‐ and second‐trimester serum screening, while chromosomal microarray analysis (CMA) showed better concordance with karyotyping (90.00%) than QF‐PCR (58.21%).
Pei Y, Luo X, Ran J, Hu L, Liu W, Wei F.
europepmc   +2 more sources

The Patient, the Provider, and the TikTok Creator: Qualitative Analysis of the Content and Quality of Videos on Prenatal Genetic Screening. [PDF]

J Midwifery Womens Health
Introduction Although providers may view the use of the noninvasive prenatal testing (NIPT) screen as an opportunity for patients to learn more about potential chromosomal variants of a fetus, research suggests that patients may view the genetic screening test primarily as an opportunity to learn about their fetus's sex chromosomes and may not ...
Johnson EP, Riches NO, Arceneaux S, Murdock E, Quade C, Cohen SR, Jensen RE.   +6 more
europepmc   +2 more sources

Novel and High-Throughput Method of Isolating Single Fetal Cells Using FACS for NIPT. [PDF]

Prenat Diagn
ABSTRACT Objective To evaluate fluorescence activated cell sorting (FACS) as a method of single‐cell isolation of rare circulating fetal cells from maternal blood for use in cell‐based non‐invasive prenatal testing (cbNIPT). Method Blood samples (30 mL) were collected from 75 ‘low‐risk’ pregnant women (gestational age 10–15 weeks).
Singh R, Nicolaisen BH, Kølvraa M, Christensen IB, Dalsgaard MT, Pedersen LH, Uldbjerg N, Vogel I, Hatt L, Ravn K.   +9 more
europepmc   +2 more sources

Knowledge and attitude of pregnant women in the Kingdom of Saudi Arabia toward Noninvasive prenatal testing: A single center study

Molecular Genetics & Genomic Medicine, 2022
Background Noninvasive prenatal testing (NIPT) is a screening tool for chromosomal aneuploidies. Prior knowledge of NIPT is an inherent factor in the decision‐making process.
Maaged A. Akiel, Mohamud S. Mohamud, Emad M. Masuadi, Hassan S. Alamri   +3 more
doaj   +1 more source

Impact of Maternal Body Mass Index (BMI) on the Performance of Non-Invasive Prenatal Testing (NIPT). [PDF]

Prenat Diagn
ABSTRACT Objective Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal trisomies. Fetal fraction (FF), essential for NIPT accuracy, can be influenced by maternal obesity. This study analyzes NIPT results by obesity status and suggests strategies to improve performance. Method This observational retrospective study evaluated FF,
Valovicova K, Polak M, Ottema S, Huijbregts G, Joosten M, Diderich KEM, Drost M, Heil S, Galjaard S, Van Opstal D, Srebniak MI.   +10 more
europepmc   +2 more sources

Confined placental mosaicism of trisomy 6 detected through genome‐wide NIPT was associated with placental abruption

Clinical Case Reports, 2021
Confined placental mosaicism (CPM) leads to discordant noninvasive prenatal testing (NIPT) results. We describe a very rare case of CPM of trisomy 6 detected through genome‐wide NIPT. This case was associated with placental abruption, which might suggest
Miyuki Nishiyama, Seiji Wada, Fuyuki Hasegawa, Yohji Uehara, Mamoru Ozaki, Kenichiro Hata, Yushi Ito, Haruhiko Sago   +7 more
doaj   +1 more source

Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

BMC Pregnancy and Childbirth, 2021
Background We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis.
Jinman Zhang, Xinhua Tang, Jilin Hu, Guilin He, Jian Wang, Yingting Zhu, Baosheng Zhu   +6 more
doaj   +1 more source

Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform

Human Genomics, 2021
Objective To evaluate the performance of noninvasive prenatal testing (NIPT) and NIPT-PLUS for the detection of genome-wide microdeletion and microduplication syndromes (MMSs) at different sequencing depths.
Jiexia Yang, Jing Wu, Haishan Peng, Yaping Hou, Fangfang Guo, Dongmei Wang, Haoxin Ouyang, Yixia Wang, Aihua Yin   +8 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

Evaluation of Noninvasive Prenatal Testing (NIPT) guidelines using the AGREE II instrument [PDF]

The Journal of Maternal-Fetal & Neonatal Medicine, 2018
Objective: The rapid increase of cell-free fetal DNA analysis for Down syndrome screening requires evidence-based clinical practice guidelines for noninvasive prenatal testing (NIPT). Several studies show that the quality of many guidelines is low and there are still many health areas where this quality is not systematically evaluated.
Maria José Rego de Sousa, Margarida Albuquerque, Rita Ribeiro, Grasielle Cruz, Pedro Mateus, José de Sousa, Germano de Sousa   +6 more
openaire   +2 more sources