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The Fertility Show

Glossary

Trisomy

The presence of an extra chromosome, resulting in a total of three chromosomes of a particular type instead of a pair - for example, trisomy 21, which causes Down syndrome.



Articles using this Glossary Item

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Screen all chromosomes in prenatal embryo testing, says study

04 September 2017 - by Dr Rachel Huddart

Current prenatal chromosome screening tests could miss rare chromosomal abnormalities and lead to inaccurate results... [Read More]

Video Review: Prenatal Genetic Testing – Making an Informed Decision

28 November 2016 - by Dr Helen O'Neill

When it comes to prenatal genetic testing and screening, informed consent is crucial. These seven videos from the US help patients to understand what's involved... [Read More]

NIPT or not to NIPT – is that really the question?

15 August 2016 - by Jane Fisher and Professor Lyn Chitty

A central tenet of prenatal testing is to promote reproductive autonomy by providing women with information that can assist in pregnancy management. Bringing NIPT into the NHS will improve an established screening programme... [Read More]

Event Review: Genetic Screening and Respect for Persons

18 July 2016 - by Amina Yonis

Non-invasive prenatal testing (NIPT) is improving all the time, and the tests may soon be offered to all pregnant women on the NHS. This event explored how to ensure that prospective mothers are properly counselled to make informed decisions about their pregnancy... [Read More]

Baby steps forward, baby steps back: towards a more liberal Swiss regulation of reproduction

07 September 2015 - by Dr Melanie Levy and Professor Vardit Ravitsky

Switzerland upholds stricter legislation on assisted reproduction and prenatal genetic testing than most European countries. However, recent regulatory changes demonstrate a possible shift towards a more liberal approach.... [Read More]

Down's syndrome blood test more accurate than existing screening

13 April 2015 - by Kirsty Oswald

Research shows that a new prenatal blood test for Down's syndrome outperforms current methods of screening... [Read More]

Offer screening in pregnancy for chromosome disorders earlier, say experts

11 August 2014 - by Dr Victoria Burchell

Expectant mothers should be offered earlier screening for rare chromosomal conditions, the UK National Screening Committee (UK NSC) recommends... [Read More]

Non-invasive prenatal test as good as invasive methods, say scientists

14 January 2013 - by Dr Daniel Grimes

US biotech company Verinata Health has reported sequencing fetal DNA taken from pregnant women's blood to test for genetic abnormalities... [Read More]

Non-invasive prenatal test for at-risk mothers recommended by US medical society

26 November 2012 - by Dr Lux Fatimathas

Non-invasive pre-natal screening for certain abnormalities in fetal chromosomes should be offered to at-risks mothers, recommends the American College of Obstetricians and Gynecologists... [Read More]

Whole fetal genome sequenced for the first time

11 June 2012 - by Dr Daniel Grimes

Researchers have sequenced the entire genome of an 18 and a half-week-old fetus using DNA samples from the blood of its mother and saliva samples from its father. These findings provide a proof of principle that a fetus can be examined for genetic defects using non-invasive technologies... [Read More]

Progress in free fetal DNA (ffDNA)-based prenatal tests

15 September 2008 - by Tessa Homfray

The holy grail of prenatal diagnosis has been the identification of chromosome and single gene abnormalities through maternal blood sampling. This would allow safe accurate prenatal diagnosis, requiring much lower operator skills, and automation is potentially possible, making it cost-effective. In contrast, standard prenatal screening involves ultrasound and biochemical risk... [Read More]

Early genetic events in Down's syndrome revealed

08 September 2008 - by Dr Rebecca Robey

Scientists have discovered the earliest genetic changes that occur in Down's syndrome, resulting in the abnormal development of the foetus and eventually leading to the host of medical complications associated with the disorder. The findings, published in the American Journal of Human Genetics, are a step forward... [Read More]

New egg test may increase IVF success rate

20 June 2006 - by Dr Kirsty Horsey

BioNews reporting from ESHRE conference, Prague (sponsored by Planer cryoTechnology). By Dr Kirsty Horsey: Italian scientists have presented research at the annual conference of the European Society of Human Reproduction and Embryology (ESHRE) in Prague, Czech Republic, showing that eggs can be screened - before they are fertilised - for chromosomal abnormalities... [Read More]

Concern over proposed prenatal screening changes

30 June 2005 - by BioNews

New recommendations for prenatal screening programmes to detect Down syndrome could lead to some chromosome abnormalities being missed, UK researchers say. A team based at Salisbury District Hospital looked at the likely effect of the proposal to scrap a type of testing called karyotyping in favour of newer, rapid methods... [Read More]

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Events using this Glossary Item

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Published by the Progress Educational Trust

CROSSING FRONTIERS

Moving the Boundaries of Human Reproduction

Public Conference
London
8 December 2017

Speakers include

Professor Azim Surani

Professor Magdalena Zernicka-Goetz

Professor Robin Lovell-Badge

Sally Cheshire

Professor Guido Pennings

Katherine Littler

Professor Allan Pacey

Dr Sue Avery

Professor Richard Anderson

Dr Elizabeth Garner

Dr Jacques Cohen

Dr Anna Smajdor

Dr Andy Greenfield

Vivienne Parry

Dr Helen O'Neill

Dr César Palacios-González

Philippa Taylor

Fiona Fox

Sarah Norcross


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