Results 81 to 90 of about 3,347 (156)

Non-Invasive Prenatal Testing with Next Generation Sequencing Methods in Birth Defect Pregnancy: A Pilot Study

Indonesian Biomedical Journal
BACKGROUND: Identification of cell-free foetal DNA (cffDNA) in maternal blood, combined with next-generation sequencing (NGS) advancement, has paved the way for non-invasive prenatal screening to detect foetal aneuploidies.
Anom Suardika, Anak Agung Ngurah Jaya Kusuma, Ni Gusti Ayu Manik Ermayanti, Endang Sri Widiyanti, I Gusti Ngurah Agung Satria Wibawa, Divika Silvana, Anak Agung Gede Raka Budayasa, Ni Nyoman Ayu Dewi, I Made Jawi, H. Sunny Sun, Yen-An Tang   +10 more
doaj   +1 more source

Recent Advances in Thalassemia Research: A Comprehensive Assessment From Diagnostic Technologies to Clinical Treatment

Journal of Clinical Laboratory Analysis, Volume 40, Issue 10, May 2026.
Thalassemia, a common hereditary blood disorder causing impaired globin synthesis and related complications, has seen remarkable progress in recent years due to advancements in genomics and molecular biology. Researchers have identified various gene variants related to thalassemia and improved clinical diagnostic methods, including new genetic testing ...
Chaoqiong Zhou, Ting Chen, Ying Huang, Huali Wang, Dahai He, Feng Wu, Yan Zhang, Lirui Kong   +7 more
wiley   +1 more source

Genetic counseling of non-invasive prenatal testing (NIPT) trisomy 7-positive pregnancies

Taiwanese Journal of Obstetrics & Gynecology
Trisomy 7 is the most common observed type of rare autosomal trisomies (RATs) detected at expanded genome-wide non-invasive prenatal testing (NIPT). Genetic counseling of NIPT trisomy 7-positive pregnancies remains to be not easy because the parents may ...
Chih-Ping Chen
doaj   +1 more source

Screening for 22q11.2 deletion syndrome by two non-invasive prenatal testing methodologies: A case with discordant results

Taiwanese Journal of Obstetrics & Gynecology, 2019
Objective: Non-invasive prenatal testing (NIPT) through the analysis of cell-free DNA in maternal plasma has bee expanded to include clinically-relevant microdeletions such as the 22q11.2 deletion syndrome (22q11.2DS). Case report: We present a pregnancy
Liang-Ming Lo, Chii-Shinn Shiau, Kuang-Chao Chen, S.W.S. Shaw, Peter Benn   +4 more
doaj   +1 more source

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 669-686, May 2026.
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel, Lotte Andreasen, Marie Balslev‐Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen   +17 more
wiley   +1 more source

Knowledge and attitudes regarding non-invasive prenatal testing (NIPT) and preferences for risk information among high school students in Sweden

, 2016
Non-invasive prenatal testing (NIPT) was recently introduced for prenatal testing of genetic disorders. Cell-free fetal DNA is present in maternal blood during pregnancy and enables detection of fetal chromosome aberrations in a maternal blood sample ...
Iwarsson, Erik, Peter Gustavsson, Ellika Sahlin, Magnus Nordenskjöld, Moa Iwarsson, Erik Iwarsson, Iwarsson, Moa, Susanne Georgsson, Sahlin, Ellika, Nordenskjöld, Magnus, Georgsson, Susanne, Gustavsson, Peter   +11 more
core   +1 more source

Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters

Frontiers in Genetics, 2019
In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters.
Yiyang Zhu, Yiyang Zhu, Yiyang Zhu, Qunda Shan, Qunda Shan, Jiayong Zheng, Qunxi Cai, Huanli Yang, Jianhong Zhang, Xiaodong Du, Fan Jin, Fan Jin   +11 more
doaj   +1 more source

Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact [PDF]

, 2016
Objective To evaluate the clinical impact of nationwide implementation of genome-wide non-invasive prenatal testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13 (TRIDENT study).
Huijsdens-van Amsterdam, Karin, Henneman, Lidewij, Bekker, Mireille N, Faas, Brigitte H., Sistermans, Erik A., Galjaard, Robert-Jan H, Verweij, E. J. Joanne, Boon, Elles M. J., Galjaard, Robert-Jan H., Verweij, E. J. (Joanne), Pajkrt, Eva, Bilardo, Catia M, Weiss, Marjan M, Suijkerbuijk, Ron F., Van Opstal, Diane, Huijsdens-vanAmsterdam, Karin, Weiss, Marjan M., Oepkes, Dick, Bekker, Mireille N., Faas, Brigitte H, Boon, Elles M J, Schuring-Blom, G. Heleen, Suijkerbuijk, Ron F, Schuring-Blom, G Heleen, Coumans, Audrey B C, Macville, Merryn V E, Bax, Caroline J., Sistermans, Erik A, Bax, Caroline J, Page-Christiaens, G. C. Lieve, Verweij, E J Joanne, Macville, Merryn V. E., Page-Christiaens, Lieve C, Dutch NIPT Consortium, Bilardo, Catia M., Page-Christiaens, G. C. (Lieve), Go, Attie T., Coumans, Audrey B. C., Go, Attie T   +38 more
core   +1 more source

Expanded non-invasive prenatal testing offers better detection of fetal copy number variations but not chromosomal aneuploidies.

PLoS ONE
PurposeTo evaluate the clinical performance of expanded non-invasive prenatal testing (NIPT-plus) and compare its effectiveness in screening for chromosomal aneuploidies with that of NIPT.MethodsScreening results, confirmatory invasive testing results ...
Shaozhe Yang, Yuan Zhuang, Junfeng Li, Xiuhong Fu   +3 more
doaj   +1 more source

Non-invasive prenatal testing (NIPT): a call for change in reporting practices

McGill Journal of Medicine
The use of non-invasive prenatal testing (NIPT) technology has revolutionized the practice of prenatal screening. The assay’s validity and reliability have been demonstrated in both low- and high-risk pregnancies.
Samuel Wilson, Jacques Balayla
doaj   +1 more source