Results 51 to 60 of about 4,684 (217)

Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Molecular Cytogenetics, 2019
Background Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasive prenatal screening of monogenic
George Koumbaris, Achilleas Achilleos, Michalis Nicolaou, Charalambos Loizides, Kyriakos Tsangaras, Elena Kypri, Petros Mina, Carolina Sismani, Voula Velissariou, Georgia Christopoulou, Pantelis Constantoulakis, Emmanouil Manolakos, Ioannis Papoulidis, Danai Stambouli, Marios Ioannides, Philippos Patsalis   +15 more
doaj   +1 more source

Comparison of two high-throughput semiconductor chip sequencing platforms in noninvasive prenatal testing for Down syndrome in early pregnancy [PDF]

, 2016
Background: Noninvasive prenatal testing (NIPT) to detect fetal aneuploidy using next-generation sequencing on ion semiconductor platforms has become common. There are several sequencers that can generate sufficient DNA reads for NIPT.
A Fortuny, A Tabor, AB Sparks, B Langmead, BF Crandall, Byung Chul Kim, C Liao, CJ McNamara, DW Bianchi, E Wang, FR Grati, G Ashoor, GE Palomaki, GP Henry, H Li, Hee Jae Joo, HeeJung Jung, Hongliang Chen, Hwanjong Kwak, Hyungsik Chu, JeongSub Kwon, JF Boland, Jong Bhak, K Song, KC Chan, KH Nicolaides, Kyudong Han, M Ehrich, M Smid, MA Quail, ME Norton, Min Gyun Kim, MJKT Barch, N Vrachnis, P Benn, R Li, S Chen, S Morgan, SeungJae Lee, Sung Hee Han, Sunghoon Park, Sunshin Kim, TK Lau, Y Wang, Y Wang, Y Yuan, YJ Jeon, YM Lo, YM Lo   +48 more
core   +1 more source

Noninvasive prenatal diagnosis of 21-Hydroxylase deficiency using target capture sequencing of maternal plasma DNA. [PDF]

, 2017
Here, we aimed to validate a noninvasive method using capture sequencing for prenatal diagnosis of congenital adrenal hyperplasia due to 21-Hydroxylase deficiency (21-OHD).
Asan, Chen, Chao, Cheng, Jian, Guo, Fengyu, Hu, Ping, Jiang, Tao, Luo, Chunyu, Ma, Dingyuan, Sun, Yun, Wang, Jian, Wang, Wei, Wang, Yaoshen, Xu, Zhengfeng, Yang, Huanming, Yi, Xin, Yuan, Yuan, Zhang, Jingjing   +16 more
core   +2 more sources

Hemolytic Disease of the Fetus and Newborn: Fetal RHD Genotyping, Targeted Prophylaxis, and Prenatal Therapies

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemolytic disease of the fetus and newborn (HDFN) remains a significant concern in prenatal care primarily caused by maternal alloimmunization against fetal red blood cell antigens, most commonly the D antigen. Noninvasive fetal RHD genotyping, used as a screening tool, enables targeted antenatal prophylaxis and has been implemented in several
Emilie Thorup, Steffen Thorsen, Morten Hanefeld Dziegiel, Olav Bjørn Petersen, Frederik Banch Clausen   +4 more
wiley   +1 more source

Non-invasive prenatal testing in mitigating concerns from invasive prenatal diagnostic testing: retrospective assessment of utility in an academic healthcare system in the US

BMJ Open, 2022
Objective Non-invasive prenatal testing (NIPT) is a front-line screening for fatal chromosomal aneuploidy. In pregnant women with a risk of having fetal congenital disorders, NIPT is anticipated to reduce the needs of invasive prenatal diagnostic test ...
Kibum Kim, Linda Kaitlyn Craft
doaj   +1 more source

High-throughput non-invasive prenatal testing for fetal rhesus D status in RhD-negative women not known to be sensitised to the RhD antigen : a systematic review and economic evaluation [PDF]

, 2018
Background: High-throughput non-invasive prenatal testing (NIPT) for fetal rhesus (D antigen) (RhD) status could avoid unnecessary treatment with routine anti-D immunoglobulin for RhD-negative women carrying a RhD-negative fetus, although this may lead ...
Griffin, Susan, Harden, Melissa, Llewellyn, Alexis, Palmer, Stephen, Saramago, Pedro, Simmonds, Mark, Walker, Ruth, Yang, Huiqin   +7 more
core   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

The importance of biochemical and ultrasound markers in prenatal diagnosis: current methods and development perspectives

Quality in Sport
This paper explores the role of biochemical and ultrasound markers in prenatal diagnosis, emphasizing their importance in early detection of chromosomal and structural abnormalities in the fetus.
Adam Torbicki, Piotr Gaworek, Michał Korpalski, Krzysztof Pawlikowski, Marek Żygłowicz, Dominik Augustyn, Maria Pawluczyk, Mateusz Marciniak, Alicja Trybuła   +8 more
doaj   +1 more source

Prospective observations study protocol to investigate cost-effectiveness of various prenatal test strategies after the introduction of noninvasive prenatal testing

BMC Pregnancy and Childbirth, 2018
Background Among the non-invasive screening methods for the identification of fetal aneuploidy, NIPT (non-invasive prenatal testing) shows the highest sensitivity and specificity in high-risk pregnancies. Due to the low false positive rate of NIPT, it is
So Yeon Kim, Seung Mi Lee, Jong Kwan Jun, You Jung Han, Min Hyoung Kim, Jae-Yoon Shim, Mi-Young Lee, Soo-young Oh, JoonHo Lee, Soo Hyun Kim, Dong Hyun Cha, Geum Joon Cho, Han-Sung Kwon, Byoung Jae Kim, Mi Hye Park, Hee Young Cho, Hyun Sun Ko, Jeonghoon Ahn, Hyun Mee Ryu   +18 more
doaj   +1 more source

Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome [PDF]

, 2016
published_or_final_versio
Chan, KY, Kan, SYA, Kou, KOT, Kwok, SL, Leung, KY, Poon, CF, Tang, MHY   +6 more
core   +1 more source