by Sarah Long  , Roanna Lobo  , Peter O'Leary  and Jan E. Dickinson

Received: 07 September 2021;  Published: 03 November 2021;  doi: 10.21926/obm.genet.2104142

Non-invasive prenatal testing (NIPT) for a panel of 25 single gene disorders became available in Western Australia in 2020 and potentially may be able to test for panels of hundreds of disorders as is the case with reproductive carrier screening. How this information would be used by parents in a population screening model is unknown. We used a phenomenological approach to explore retrospectively whether mothers of children with single gene or chromosomal disorders would have wanted to know about their child’ [...]

by Jean Golding  , Rosie Clark  , Steven Gregory  , Genette Ellis  , Matthew Suderman  , Yasmin Iles-Caven  and Marcus E. Pembrey

Received: 17 May 2021;  Published: 29 October 2021;  doi: 10.21926/obm.genet.2104141

The FRAXE section of the FMR2 gene, located on the X chromosome, contains varying numbers of trinucleotide repeats; boys with over 200 repeats tend to have mild cognitive impairments, though this is rare. Little is known, however, concerning the phenotypes of individuals with smaller numbers of repeats. Here we answer the research question as to whether the health of ancestors of boys from whom the relevant X chromosome was inherited differed in any way according to the number of FRAXE repeats. Numbers of FRAXE rep [...]

by Daniel Navon  and Gareth Thomas

Received: 15 July 2021;  Published: 09 October 2021;  doi: 10.21926/obm.genet.2104140

In this article, we discuss the radical uncertainties unleashed by expanded prenatal genetics. We show how we are now routinely screening fetuses in the absence of two essential sorts of information. At the population level, we do not have sound, unbiased data about the prevalence, penetrance, and clinical variability of most mutations. At the level of the proband, it is often too soon to discern relevant information about the fetus’ phenotype. First, we outline the longstanding ethical objections to newborn screen [...]

by Michelle Lynne LaBonte

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

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 cystic fibrosis or “normal” categorie [...]

by Alison Schmidt  and Anthony Shanks

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

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 provides a historical summary of the quadruple marker screen [...]

by Siamak Shirani Bidabadi  , Parisa Sharifi  and S. Mohan Jain

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

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-economic benefits. Integrating in [...]

by Robert Resta

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

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 through selective abortion, allowing [...]

by Seria Tsan  , Stefanie Kankel  , Niklas Padutsch  , Luisa Person  , Monika Ziegler  , Ahmed Al-Rikabi  , Anja Weise  , Kristin Mrasek  and Thomas Liehr

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

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 heteromorphisms of acrocentric centromeres. [...]

by Zheng Zuo

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

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 appropriate to model the methylation eff [...]

by Giuseppe Cocco  and Philipp Amiet

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

“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). Epigenetic interactions, along with the genetic expression in innate cells, change the structure and function of chromatin, and thus, turn the genes on and off. Epigenetic changes influence dise [...]