OBM Genetics

(ISSN 2577-5790)

OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes research articles, reviews, communications and technical notes, etc. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.

Archiving: full-text archived in CLOCKSS.

Rapid publication: manuscripts are undertaken in 8.5 days from acceptance to publication (median values for papers published in this journal in the first half of 2021, 1-2 days of FREE language polishing time is also included in this period).

Current Issue: 2021  Archive: 2020 2019 2018 2017

Special Issue

Policy Issues in Prenatal and Neonatal Testing, Counseling, and Decision-Making

Submission Deadline: July 31, 2021 (Open) Submit Now

Guest Editors

Diane B. Paul, PhD, Professor Emerita

University of Massachusetts Boston, Boston, United States

Website | E-Mail

Research Interests: newborn screening; phenylketonuria (PKU); prenatal testing and counseling; history of eugenics

Ilana Löwy, PhD, Senior Researcher Emerita

1. INSERM, France

2. French National Centre for Scientific Research, France

Website | E-Mail

Research Interests: prenatal testing; material cultures of medicine; cancer risk and screening; biomedicine and gender; biomedicine in Brazil

About This Topic

Many aspects of prenatal and neonatal testing, counseling, and decision-making raise complex policy issues that are often fiercely contested and emotionally-charged. Should newborn screening expand to include all inheritable disorders detectable at birth or should it be restricted to those disorders where presymptomatic treatment is likely to significantly reduce mortality and morbidity? And which groups should be considered legitimate stakeholders in this debate? In the prenatal domain, the advent of non-invasive prenatal testing (NIPT) has converged with the increasing stigmatization of abortion and the mobilisation of disability-rights groups to provoke new political, social, and cultural challenges to the practice of pregnancy termination for fetal anomaly and also raised questions about what prospective parents should be told and by whom about the quality of life with inherited/congenital conditions. Who should counsel women and their partners after a positive prenatal diagnosis, and what kinds of information and advice should they provide? Preimplantation genetic diagnosis (PGD) avoids the issue of pregnancy termination but raises other issues related to selection for sex and against disability and the need to acquire and dispose of embryos. These are just a few of the fraught questions with which health-care providers, advocacy groups, and policy-makers are currently grappling.

For this special issue of OBM Genetics, we invite colleagues concerned with policy issues in either domain to submit original research articles, reviews, or opinion pieces. We especially welcome contributions from practitioners able to draw on their on-the-ground experiences.


Neonatal testing; prenatal testing (PND); preimplantation genetic diagnosis (PGD); selective abortion; Non-invasive prenatal testing (NIPT); advocacy organisations; genetic counseling; disability-rights


Open Access Opinion

Screening Before We Know: Radical Uncertainties in Expanded Prenatal Genetics

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 c [...]
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


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 [...]
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


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 [...]
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


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 com [...]
Open Access Opinion

Imagining Life with a Genetic Disorder: The Challenge of Evaluating Health States that Exist from Birth

Received: 29 March 2021;  Published: 14 May 2021;  doi: 10.21926/obm.genet.2102130


This article explores difficulties encountered by those with no personal experience of a chronic disease or disability in accurately evaluating the quality of life with a condition present from birth. In most countries, cost-effectiveness analysis relies on ratings of health states by members [...]