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Patient attitudes and preferences about expanded noninvasive prenatal testing [PDF]

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   +2 more sources

Cross-Sectional Survey of Obstetrical Providers’ Knowledge, Attitudes, and Use of Noninvasive Prenatal Testing for 22q11.2 Deletion [PDF]

American Journal of Perinatology Reports
Objective This study’s primary objective was to characterize obstetrical providers’ knowledge and utilization of noninvasive prenatal testing (NIPT) for 22q11.2 deletion screening.
Juliana Simon, James W. Van Hook, Nabila Azeem, Madeline Allen, Hind N. Moussa   +4 more
doaj   +2 more sources

Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review

Frontiers in Pediatrics, 2022
A paradigm shift in noninvasive prenatal screening has been made with the discovery of cell-free fetal DNA in maternal plasma. Noninvasive prenatal screening is primarily used to screen for fetal aneuploidies, and has been used globally.
Shanling Liu, Cechuan Deng
exaly   +3 more sources

Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations

Clinical Case Reports (discontinued), 2020
In two cases, cell‐based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.
Katarina Ravn, Palle Schelde, Ida Vogel
exaly   +2 more sources

Prenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT) [PDF]

Scientific Reports
To explore the clinical value of noninvasive prenatal testing (NIPT) combined with chromosomal microarray analysis (CMA)/copy number variation sequencing (CNV-seq), methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), and ...
Haishan Peng, Dongmei Wang, Fangfang Guo, Yaping Hou, Tingting Hu, Qianyi Du, Jiexia Yang   +6 more
doaj   +2 more sources

Hierarchical Classification of Factors Associated With Noninvasive Prenatal Testing Failures and Its Impact on Pregnancy Outcomes [PDF]

Maternal-Fetal Medicine
. Objective. To conduct a hierarchical classification analysis of the nonreportable results of noninvasive prenatal testing in an attempt to reduce failure rates and provide pregnant women with accurate information to alleviate their anxiety. Methods. In
Yang Pan, Jue Li, Jieqiong Xie, Yu Jiang, Yulin Zhou, Dandan Jin, Xingxiu Lu, Yunsheng Ge   +7 more
doaj   +2 more sources

The value of NIPT combined with serum cell-free DNA, estriol, AFP, and b-HCG levels in the recognition of trisomy 21 and 18 in the second trimester [PDF]

Journal of Medical Biochemistry, 2023
Background: This study aimed to evaluate the clinical application value of noninvasive prenatal testing from DNA (NIPT) and serum screening for screening in detecting fetal trisomy 21 and 18.
Fu JingLi, Zhong XiaoYan, Li Dan, Ge YunSheng, Zhang XueQin   +4 more
doaj   +1 more source

Relevance of Invasive Testing in Era of Non-Invasive Testing for Prenatal Chromosomal Abnormalities

Gynecology Obstetrics & Reproductive Medicine, 2022
Prenatal screening for chromosomal abnormalities has two components i.e. prenatal screening (maternal serum screening and cell-free fetal DNA screening) and prenatal diagnosis (chorionic villus sampling, amniocentesis, and cordocentesis).
Abhijeet Kumar, Madhusudan Dey, Devendra Arora   +2 more
doaj   +1 more source

Non-invasive prenatal testing: a revolutionary journey in prenatal testing

Frontiers in Medicine, 2023
Non-invasive prenatal testing (NIPT) is a pioneering technique that has consistently advanced the field of prenatal testing to detect genetic abnormalities and conditions with the aim of decreasing the incidence and prevalence of inherited conditions ...
Malak Abedalthagafi, Malak Abedalthagafi, Shahad Bawazeer, Romy I. Fawaz, A. Merrihew Heritage, Nouf M. Alajaji, Eissa Faqeih   +6 more
doaj   +1 more source

Comparison of Bioinformatics Approaches for Fetal Microdeletions and Monogenic Variations Estimation in Non-invasive Prenatal Testing

Global Medical Genetics, 2022
Prenatal testing provides crucial information about the health status of fetuses as well as recommending better treatment. For the past decades, prenatal testing using chorionic villus sampling and amniocentesis were the two majorly used forms of ...
Lizzy Teleboshe Paul, Mahmut Cerkez Ergoren   +1 more
doaj   +1 more source