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Glossary

Amniocentesis

A test carried out during weeks 15-20 of the pregnancy, in which a small amount of the fluid that surrounds the fetus is removed for biochemical or genetic testing. It can assess whether the fetus could develop, or has developed, an abnormality or serious health condition.



Articles using this Glossary Item

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Illumina wins NIPT patent case in UK High Court

27 November 2017 - by Dr Rachel Brown

The UK Patents Court has ruled that two separate non-invasive prenatal tests infringe patents licensed by the US firm Illumina... [Read More]

The reflex prenatal screening model seems like a step in the wrong direction

20 November 2017 - by Catherine Joynson

The new 'reflex' method of antenatal screening for Down's, Edwards' and Patau's syndromes was described last week as a 'transformational advance'. It might be cheaper than other approaches, but it could come at the cost of informed choice for pregnant women and couples... [Read More]

NHS to offer non-invasive prenatal testing to pregnant women

07 November 2016 - by Dr Rachel Huddart

A more accurate and safer prenatal test for Down's, Edwards' and Patau's syndromes is to be offered by the NHS from 2018, it has been announced... [Read More]

Should prenatal DNA testing for Down's syndrome be available online?

24 October 2016 - by Craig Macpherson

Several online companies now offer non-invasive prenatal testing for Down's syndrome. While there are some protections for consumers, they are currently insufficient... [Read More]

Down's syndrome: NIPT in the bud?

03 October 2016 - by Victoria Woodham

The introduction of non-invasive prenatal testing in the NHS screening programme for pregnant women may seem like a no-brainer, but it is based on outdated ideas of what life is like for people with Down's syndrome and their families... [Read More]

Book Review: The End of Sex and the Future of Human Reproduction

15 August 2016 - by Dr Peter D Sozou

This book makes a startling prediction – within the next 20 to 40 years, most people with access to good healthcare will no longer have sex to conceive their children. Instead, parents will simply provide a few skin cells as the raw material for production of embryos... [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]

Reassurance for mothers over mosaic aneuploidy in CVS

03 May 2016 - by Professor Magdalena Zernicka-Goetz

Although our recent findings on the fate of aneuploid cells in mosaic embryos have indeed been somewhat misrepresented in the press, our findings may still constitute a strand of hope for mothers who have had early test results showing mosaic aneuploidy... [Read More]

Abnormal fetuses are highly unlikely to heal themselves

18 April 2016 - by Professor Caroline Ogilvie

Press coverage of a recent study on mouse embryos speculates that termination of human pregnancies diagnosed with aneuploidy (a family of conditions including Down's syndrome) at prenatal diagnosis could be unnecessary, due to the ability of the fetus to 'heal itself'. In fact, the paper's findings are not relevant to aneuploidy detected at prenatal diagnosis... [Read More]

Prenatal test for Down's syndrome recommended for NHS

18 January 2016 - by Lone Hørlyck

A new blood test for Down’s syndrome in high-risk women has been recommended for use on the NHS.... [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]

Maternal blood test for Down's syndrome to be trialled in UK

04 November 2013 - by María Victoria Rivas Llanos

A new method for prenatal testing for Down's syndrome will be tried out at Great Ormond Street Hospital for Children (GOSH), London.... [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]

Improved prenatal test may better detect genetic diseases

10 December 2012 - by Dr Lux Fatimathas

More sensitive prenatal testing of fetal DNA could improve the detection of genetic diseases, studies find... [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]

Fetal genome sequenced using only a blood sample from the mother

09 July 2012 - by Dr Lux Fatimathas

US researchers have for the first time sequenced the genome of a fetus using only a blood sample from the mother. It is hoped this new form of non-invasive sampling could allow doctors to screen for a range of genetic diseases prenatally, with minimal risk to the fetus... [Read More]

Reflections on the ethical debate surrounding non-invasive prenatal genetic diagnosis

12 September 2011 - by Professor Vardit Ravitsky

An up-and-coming technology will soon allow genetic testing of a fetus with a simple maternal blood test early in the first trimester of the pregnancy by isolating cell-free fetal DNA in the mother's plasma. Currently, obtaining reliable diagnostic genetic information requires invasive testing with Chorionic Villus Sampling (CVS) or amniocentesis. Both carry a risk of miscarriage and are performed between weeks 10 and 20 of the pregnancy... [Read More]

Maternal test for Down's syndrome may reduce need for invasive diagnosis

17 January 2011 - by Owen Clark

New research suggests that Down's syndrome could be detected using genetic screening, avoiding the need for invasive detection procedures.... [Read More]

Late motherhood causes steep rise in Down syndrome diagnoses

01 November 2009 - by Nienke Korsten

According to figures published in the British Medical Journal last week, the number of diagnoses of Down syndrome in babies and fetuses in England and Wales has risen by 71 per cent over the past 20 years. This is attributed to an increase in maternal age over this period. A concurrent increase in terminations of affected pregnancies as a result of improved prenatal screening methods has meant that numbers of live births with Down syndrome have fallen by one per cent, whereas they would have ... [Read More]

Setback for Down syndrome prenatal blood test

12 May 2009 - by Ben Jones

The effectiveness of a prenatal test for Down syndrome has been thrown into doubt after its developers, Sequenom, admitted that study data had been 'mishandled' by its employees. The company, which had been producing apparently strong results in house for its DNA and RNA blood testing products... [Read More]

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