Register or Submit a manuscript.

Table of Contents

Open Access

ISSN 2577-5790

© 2021 by the authors; CC BY 4.0 licence

OBM Genetics , Volume 5 , Issue 3 (2021)

Pages: 139

Published: November 2021

(This book is a printed edition that was published in OBM Genetics)

Download PDF

Order Print Version
Price: 28.99 USD
Format: Soft Cover
Quantity:

With emerging technology in prenatal aneuploidy screening in the form of cell-free DNA, serum screening modalities such as the quadruple screen are becoming less widely used. This review provides a historical context for the quadruple screen and presents what might be lost in its absence.View this paper.

Volume 5,Issue 3

Open Access Review

Addressing Uncertainty: The Emergence of the CRMS/CFSPID Diagnostic Category Following Newborn Screening for Cystic Fibrosis

Received: 29 July 2021;  Published: 29 September 2021;  doi: 10.21926/obm.genet.2103139

Abstract

This article uses cystic fibrosis as a case study to examine how physicians and scientists have navigated uncertainty following newborn screening. Despite the many benefits of newborn screening, including earlier diagnosis, therapeutic intervention, and a reduced diagnostic odyssey, this public health approach also comes with challenges. For example, physicians began to document infants with indeterminate diagnoses - those with a positive screen who did not clearly fit into the cysti [...]

Open Access Review

Quadruple Screening in the Age of Cell-Free DNA: What are We Losing?

Received: 16 June 2021;  Published: 27 September 2021;  doi: 10.21926/obm.genet.2103138

Abstract

Cell-free DNA has emerged as the most reliable, non-invasive prenatal screening tool for fetal aneuploidies. It has come to replace the previously widely used quadruple screen offered in the second trimester of pregnancy. This change comes with improved detection for aneuploidy but also presents potential gaps in prenatal diagnosis including detection of open fetal defects and emerging data on prediction of adverse pregnancy outcomes. This review article prov [...]

Open Access Research Article

Plant Breeding Integrated with Genomic-Enabled Prediction

Received: 09 June 2021;  Published: 15 September 2021;  doi: 10.21926/obm.genet.2103137

Abstract

Plant breeding programs have used conventional breeding methods, such as hybridization, induced mutations, and other methods to manipulate the plant genome within the species' natural genetic boundaries to improve crop varieties. However, repeatedly using conventional breeding methods might lead to the erosion of the gene reservoir, thereby rendering crops vulnerable to environmental stresses and hampering future progress in crop production, food and nutritional security, and socio-e [...]

Open Access Review

Prenatal Testing – What Is It Good For? A Review and Critique

Received: 22 June 2021;  Published: 01 September 2021;  doi: 10.21926/obm.genet.2103136

Abstract

The goals of prenatal testing remain controversial and reflect competing interests of public health, patient rights, disability activists, scholars, feminist critics, commercial laboratories, judiciary/legislative trends, and medical science. This paper reviews and critiques the most common justifications of prenatal testing for fetal aneuploidy that have been put forth over the half century of its existence: reducing the medical and economic burden to society of genetic disease thro [...]

Open Access Original Research

About Cryptic Acrocentric Pericentromeric Abnormalities in Infertile

Received: 16 April 2021;  Published: 25 August 2021;  doi: 10.21926/obm.genet.2103135

Abstract

Cryptic balanced chromosomal aberrations can be an underlying cause of infertility. In 2003 Cockwell and coworkers highlighted the relevance of euchromatic pericentric regions of acrocentric chromosomes that may be a yet ignored genomic region hosting cryptic rearrangements. Here we offer the first follow-up study to further explore this idea. Two specific molecular cytogenetic probe sets were established to elucidate such cryptic rearrangements together with chromosomal heteromorphi [...]

Open Access Technical Note

Encoding, Regression, and Classification of Transcription Factors’ Specificity and Methylation Effects

Received: 01 February 2021;  Published: 16 August 2021;  doi: 10.21926/obm.genet.2103134

Abstract

The methylation effects on protein-DNA interactions, which can be perceived as a special kind of specificity of transcription factors, have been successfully quantified in the last years by various methods. In this work, I give a summary about the sequence encoding scheme, the underlying additive model about specificity and methylation sensitivity, and the regression strategy to analyze Methyl-Spec-seq data. Then I explain why given the current experimental setup, it is more appropri [...]

Open Access Review

Epigenetics and Medicine

Received: 23 March 2021;  Published: 30 July 2021;  doi: 10.21926/obm.genet.2103133

Abstract

“Epigenetics is the study of how your behaviors and environment can cause changes that affect the way your genes work. Unlike genetic changes, epigenetic changes are reversible and do not change your DNA sequence, but they can change how your body reads a DNA sequence” (https://www.cdc.gov/genomics/disease/epigenetics.htm< [...]

Open Access Editorial

Genetic Screening of Cervical Cancer

Received: 29 June 2021;  Published: 19 July 2021;  doi: 10.21926/obm.genet.2103132

Abstract

Medical genetics plays an important role in the screening and prevention of numerous diseases. Thus, it is important to develop effective screening and prevention programs and improve the assessment of the susceptibility of diseases. The development of screening and prevention programs depends on the identification of early biomarkers (including functional and behavioral) for the risk and onset of the disease, and such programs need to be designed according to internationally accepte [...]
Newsletter  

TOP