A systematic review and meta‐analysis of cell‐free DNA testing for detection of fetal sex chromosome aneuploidy

MA Shear, K Swanson, R Garg, AC Jelin… - Prenatal …, 2023 - Wiley Online Library
Objectives The aim was to determine the accuracy of cell‐free DNA testing (cfDNA) for
detecting sex chromosome aneuploidies (SCA) in singleton pregnancies. Methods A …

Confined placental mosaicism and its impact on confirmation of NIPT results

A Mardy, RJ Wapner - … Journal of Medical Genetics Part C …, 2016 - Wiley Online Library
Non‐invasive prenatal testing (NIPT) has been widely used to screen for common
aneuploidies since 2011. While NIPT is highly sensitive and specific, false positive results …

Immunoassay-Amplified Responses Using a Functionalized MoS2-Based SPR Biosensor to Detect PAPP-A2 in Maternal Serum Samples to Screen for Fetal Down's …

NF Chiu, MJ Tai, DT Nurrohman, TL Lin… - International journal …, 2021 - Taylor & Francis
Background Due to educational, social and economic reasons, more and more women are
delaying childbirth. However, advanced maternal age is associated with several adverse …

Liquid biopsy applications in the clinic

D Chen, T Xu, S Wang, H Chang, T Yu, Y Zhu… - Molecular Diagnosis & …, 2020 - Springer
The global liquid biopsy industry is expected to exceed $ US5 billion by 2023. One
application of liquid biopsy technology is the diagnosis of disease using biomarkers found in …

Ethics in genetic counselling

AJ Clarke, C Wallgren-Pettersson - Journal of Community Genetics, 2019 - Springer
Difficult ethical issues arise for patients and professionals in medical genetics, and often
relate to the patient's family or their social context. Tackling these issues requires sensitivity …

Noninvasive prenatal DNA testing: the vanguard of genomic medicine

L Hui, DW Bianchi - Annual review of medicine, 2017 - annualreviews.org
Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years,
this screening test has revolutionized prenatal care globally and opened up new prospects …

Cell-free DNA and RNA—measurement and applications in clinical diagnostics with focus on metabolic disorders

MH Drag, TO Kilpeläinen - Physiological genomics, 2021 - journals.physiology.org
Circulating cell-free DNA (cfDNA) and RNA (cfRNA) hold enormous potential as a new class
of biomarkers for the development of noninvasive liquid biopsies in many diseases and …

'Is it better not to know certain things?': views of women who have undergone non-invasive prenatal testing on its possible future applications

H Bowman-Smart, J Savulescu, C Mand… - Journal of medical …, 2019 - jme.bmj.com
Non-invasive prenatal testing (NIPT) is at the forefront of prenatal screening. Current uses
for NIPT include fetal sex determination and screening for chromosomal disorders such as …

Genomic testing for human health and disease across the life cycle: applications and ethical, legal, and social challenges

GA Bilkey, BL Burns, EP Coles, FL Bowman… - Frontiers in Public …, 2019 - frontiersin.org
The expanding use of genomic technologies encompasses all phases of life, from the
embryo to the elderly, and even the posthumous phase. In this paper, we present the …

A dPCR-NIPT assay for detections of trisomies 21, 18 and 13 in a single-tube reaction-could it replace serum biochemical tests as a primary maternal plasma …

P Dai, Y Yang, G Zhao, Z Gu, H Ren, S Hu… - Journal of Translational …, 2022 - Springer
Background The next generation sequencing (NGS) based non-invasive prenatal test (NIPT)
has outplayed the traditional serum biochemical tests (SBT) in screen of fetal aneuploidies …