Results 101 to 110 of about 4,684 (217)

Situs Inversus Totalis: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Situs Inversus Totalis (SIT) is a rare congenital anomaly characterized by the complete mirror‐image transposition of the thoracoabdominal viscera. Although typically it has a favorable prognosis, SIT can be associated with ciliopathy‐related disorders, most notably Primary Ciliary Dyskinesia (PCD).
Xin Du, Ning Wang, Juanjuan Sheng, Yunshan Zhang, Jinfang Gao   +4 more
wiley   +1 more source

A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

BMC Medical Genomics, 2020
Background Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13).
Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan, Wei-Wu Shi   +5 more
doaj   +1 more source

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations [PDF]

, 2015
status ...
Aad Tibben, Alison Hall, Anneke Lucassen, Borut Peterlin, Carla G van El, Carsten Bergmann, Diana W Bianchi, Dragica Radojkovic, Florence Fellmann, Francesca Forzano, Guido de Wert, Heidi C Howard, Kelly Ormond, Lidewij Henneman, Lisbeth Tranebjærg, Lyn S Chitty, Maria Soller, Martina C Cornel, Pascal Borry, Wolf Rogowski, Wybo Dondorp, Wybo Dondorp, Yvonne Bombard   +22 more
core   +2 more sources

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

Direct to consumer testing in reproductive contexts--should health professionals be concerned? [PDF]

, 2015
Direct to consumer genetic testing offered via the Internet has been available for over a decade. Initially most tests of this type were offered without the input of the consumer's own health professional.
Skirton, H
core   +1 more source

False negative NIPT results: Risk figures for chromosomes 13,18 and 21 based on chorionic villi results in 5967 cases and literature review [PDF]

, 2016
Non-invasive prenatal testing (NIPT) demonstrated a small chance for a false negative result. Since the "fetal" DNA in maternal blood originates from the cytotrophoblast of chorionic villi (CV), some false negative results will have a biological origin ...
Berg, C.D.F. (Cardi) van den, Diderich, K.E.M. (Karin), Galjaard, R-J.H. (Robert-Jan), Go, A.T.J.I. (Attie), Govaerts, L.C. (Lutgarde), Joosten, A-M.S (Marieke), Knapen, M.F.C.M. (Maarten), Polak, J. (Joke), Srebniak, M.I. (Malgorzata), Van Opstal, A.R.M. (Diane), Vries, F.A.T. (Femke) de   +10 more
core   +1 more source

The feasibility study of non-invasive fetal trisomy 18 and 21 detection with semiconductor sequencing platform [PDF]

, 2014
Objective: Recent non-invasive prenatal testing (NIPT) technologies are based on next-generation sequencing (NGS). NGS allows rapid and effective clinical diagnoses to be determined with two common sequencing systems: Illumina and Ion Torrent platforms ...
A Borrell, A Fortuny, A Tabor, AB Sparks, Ahong Zhang, Ayang Wu, B Langmead, BF Crandall, Byung Chul Kim, C Liao, CJ McNamara, DW Bianchi, G Ashoor, GE Palomaki, GP Henry, H Li, Hailing Zheng, Hee Jae Joo, Hongliang Chen, Huan Xu, JA Sainz, JF Boland, Jin Lin, Jinchun Chen, Jong Bhak, K Song, KC Chan, KH Nicolaides, KO Kagan, L Berktold, M Ehrich, M Muñoz-Cortes, M Smid, M van den Berg, MA Quail, ME Norton, P Benn, Qiwei Guo, R Li, S Chen, S Morgan, Shengmao Quan, Sin-Gi Park, Sinuhe Hahn, TK Lau, Xingqiang Zhu, Y Wang, Yihan Li, YM Lo, YM Lo, Young Joo Jeon, Yulin Zhou   +51 more
core   +2 more sources

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways [PDF]

, 2016
OBJECTIVE: Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.
Chitty, LS, Drury, S, Hill, M, Jenkins, L, Mason, S, Morris, S, Verhoef, TI   +6 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

Obstetrician and Gynecologist Utilization of the NIPT Expanded Testing Option [PDF]

, 2015
Noninvasive prenatal testing (NIPT) enables the detection of common fetal aneuploidies such as trisomy 21, trisomy 18, trisomy 13, and sex chromosome abnormalities via analysis of cell-free fetal DNA circulating in maternal serum.
Mayes, Sarah, BA
core