by Sylvie Langlois  and R Douglas Wilson

Received: 01 August 2017;  Published: 26 September 2017;  doi: 10.21926/obm.genet.1703007

Prenatal genetic aneuploidy screening approaches are designed to identify pregnant patients at increased risk of having a fetus affected. Conventional prenatal screening has consisted in providing women a risk estimate of having a pregnancy affected with trisomy 21 or trisomy 18 based on maternal age and analysis of serum markers and ultrasound nuchal translucency (NT) measurement. In 2011, the introduction of cell-free DNA (cfDNA) based screening into clinical practice has provided new options for aneuploidy scree [...]

by Anne-Marie Laberge  and Wylie Burke

Received: 30 July 2017;  Published: 21 September 2017;  doi: 10.21926/obm.genet.1703006

Genetic screening is the process of systematically evaluating a defined population for genetic conditions or predispositions, in the hope of providing benefit to those with a positive result. With advances in sequencing technology, genetic screening is moving from phenotype-based to genotype-based testing. Although sequencing technology offers expanded opportunities for early identification of disease, the availability of a suitable and acceptable test is not a sufficient justification to proceed: established crite [...]

by John Old  and Cornelis Harteveld

Received: 03 July 2017;  Published: 14 August 2017;  doi: 10.21926/obm.genet.1703005

Carrier screening for the haemoglobinopathies has undergone many technological improvements in haematological and molecular diagnostic techniques since the first prenatal diagnoses by DNA analysis in the 1970s by Southern blot analysis enabled the implementation of effective successful prevention programmes for beta thalassaemia involving public education, carrier screening, genetic counselling and prenatal diagnosis in Mediterranean countries. The application of a wide variety of PCR-based molecular diagnostic tec [...]

by Mark Stoneking

Received: 10 April 2017;  Published: 02 June 2017;  doi: 10.21926/obm.genet.1702004

none, this is an opinion piece

by Joep Geraedts

Received: 13 April 2017;  Published: 26 April 2017;  doi: 10.21926/obm.genet.1702003

Mark Stoneking, who is a member of the Editorial Board of OBM Genetics has written a textbook on molecular anthropology

by Ron Hochstenbach  , Martin Poot  and Thomas Liehr

Received: 15 November 2016;  Published: 10 February 2017;  doi: 10.21926/obm.genet.1701002

Small supernumerary marker chromosomes (sSMCs) are centric chromosome fragments additionally present in an otherwise normal human chromosome set that cannot be characterized by classical cytogenetic techniques alone. The majority of sSMCs are not yet related to a defined clinical phenotype. We compiled from the literature all 78 cases with multiple sSMCs per cell in which the chromosomal origin of the sSMCs has been identified. The number of sSMCs varies from 2 to 7; 64% have 2 sSMCs, 14% have 3 sSMCs, and the freq [...]

by Joep Geraedts

Received: 16 January 2017;  Published: 10 February 2017;  doi: 10.21926/obm.genet.1701001