Non-invasive prenatal testing: a review of international implementation and challenges

M Allyse, MA Minear, E Berson, S Sridhar… - … journal of women's …, 2015 - Taylor & Francis
Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal
chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant …

At the dawn: cell-free DNA fragmentomics and gene regulation

Y Liu - British Journal of Cancer, 2022 - nature.com
Epigenetic mechanisms play instrumental roles in gene regulation during embryonic
development and disease progression. However, it is challenging to non-invasively monitor …

Evaluating the quantity, quality and size distribution of cell-free DNA by multiplex droplet digital PCR

M Alcaide, M Cheung, J Hillman, SR Rassekh… - Scientific reports, 2020 - nature.com
Cell-free DNA (cfDNA) has become a comprehensive biomarker in the fields of non-invasive
cancer detection and monitoring, organ transplantation, prenatal genetic testing and …

Pregnancy in dialysis patients in the new millennium: a systematic review and meta-regression analysis correlating dialysis schedules and pregnancy outcomes

GB Piccoli, F Minelli, E Versino… - Nephrology Dialysis …, 2016 - academic.oup.com
Background Advances have been made in the management of pregnancies in women
receiving dialysis; however, single-centre studies and small numbers of cases have so far …

[图书][B] RNA, the epicenter of genetic information

J Mattick, P Amaral - 2023 - library.oapen.org
The origin story and emergence of molecular biology is muddled. The early triumphs in
bacterial genetics and the complexity of animal and plant genomes complicate an intricate …

Risk factors for Down syndrome

F Coppedè - Archives of toxicology, 2016 - Springer
Down syndrome (DS) originates, in most of the cases (95%), from a full trisomy of
chromosome 21. The remaining cases are due to either mosaicism for chromosome 21 or …

Current overview of osteogenesis imperfecta

M Deguchi, S Tsuji, D Katsura, K Kasahara, F Kimura… - Medicina, 2021 - mdpi.com
Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder
characterised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a …

Identification of 12 cancer types through genome deep learning

Y Sun, S Zhu, K Ma, W Liu, Y Yue, G Hu, H Lu… - Scientific reports, 2019 - nature.com
Cancer is a major cause of death worldwide, and an early diagnosis is required for a
favorable prognosis. Histological examination is the gold standard for cancer identification; …

Non-invasive prenatal chromosomal aneuploidy testing-clinical experience: 100,000 clinical samples

RM McCullough, EA Almasri, X Guan, JA Geis… - PLoS one, 2014 - journals.plos.org
Objective As the first laboratory to offer massively parallel sequencing-based noninvasive
prenatal testing (NIPT) for fetal aneuploidies, Sequenom Laboratories has been able to …

[HTML][HTML] Recent trends in prenatal genetic screening and testing

O Pös, J Budiš, T Szemes - F1000Research, 2019 - ncbi.nlm.nih.gov
Prenatal testing in recent years has been moving toward non-invasive methods to determine
the fetal risk for genetic disorders without incurring the risk of miscarriage. Rapid progress of …