Tag: Prenatal diagnosis

“Abortion is never the answer that women and families seek”. On the occasion of the International Congress ‘Yes to Life! Caring for the Precious Gift of Life in its Frailty’ organized at the Vatican on 25 May, Pope Francis reminded the 400 participants from 70 countries that “no human being can ever be incompatible with life, not due to his age, his health conditions, or the quality of his existence”. He then added that “every child that enters a woman’s womb is a gift, which changes the story of a family. […] And this baby is in need of being received, loved and taken care of. Always!” 

With regard to prenatal diagnosis, he noted that these techniques “are able to discover from the first weeks the presence of malformations and pathologies, which at times can put in serious danger the life of the child and the serenity of the woman”. He explained that “the sole suspicion of pathology, but even more so the certainty of a sickness, change the experience of the pregnancy, casting women and couples into profound dejection”. The Holy Father expressed delight that medical progress is enabling some of these “little patients” to be treated. However, he also warned that “such possibilities and knowledge […] indispensable that doctors have very clear not only the objective of the cure but the sacred value of human life, whose protection, in the end, rests on medical practice”.

With regard to children who, “in the present state of scientific knowledge, are destined to die immediately after birth, or in a brief period of time”, the Pope invited us to “take care of them” to help parents “elaborate their mourning and think of it not only as a loss but as a stage of a path followed together. That child will remain in their life forever.  And they will have been able to love him.  Often, those few hours in which a mother can cradle her child leave a trace in the woman’s heart, which she never forgets”.

The Holy Father then continued: “Human life is sacred and inviolable and the use of prenatal diagnosis for selective ends is energetically discouraged, as an expression of an inhuman eugenic mentality, which removes from the family the possibility to receive, embrace and love their weakest children“. Commitment to life is not an act of faith, “it is a human problem”.

Zenit, Anne Kurian (25/05/2019) – « L’avortement n’est jamais la réponse que cherchent les femmes et les familles », affirme le pape

The situation is “particularly acute for women and girls with Down syndrome [1],” said Archbishop Auza, Apostolic Nuncio and Permanent Observer of the Holy See to the United Nations. He was speaking at an event called ‘Social Protections for Women, Girls and All Those with Down Syndrome’, held on 21 March at the United Nations in New York.

The representative of the Holy See protested against countries that, under the guise of “eliminating Down syndrome,” eliminate “those with Down syndrome“, and against “some within the UN system ” which, “despite the Convention on the Rights of Persons with Disabilities” and “despite the stated commitment of the UN General Assembly” are “abetting that genocide“.

Quoting Professor Jérôme Lejeune, who discovered the cause of Down syndrome in 1958: “Medicine becomes mad science when it attacks the patient instead of fighting the disease“. Archbishop Auza also observed that there are “no social protections for people diagnosed in the womb with a third chromosome 21“. He then added that “their special needs are often largely overlooked, including by an international community that is committed to leaving no one behind”.

Yet, “99% of those with Down syndrome say they are happy with their lives, 97% like who they are,” says a 2011 study referred to by Archbishop Auza.  This study also shows that “99% of their parents said they love their child with Down syndrome, and 79% said that their outlook on life is more positive because of their child. We could even say that Down children and their families are simply among the happiest groups of people alive – and the world is happier because of them,” said the Apostolic Nuncio. He therefore called for us to work “not only to build a society that includes them, but cherishes them, and benefits from their presence and many gifts“.

[1] Trisomy 21

Zenit, Hélène Ginaba (27/03/19)

Ultrasound can detect certain malformations and anomalies in foetal development. In this case, we can look for a genetic cause using karyotyping[1] and chromosomal microarray analysis (CMA)[2]. In about 38% of cases, these analyses determine the cause of the disorder, but in “more than 60% of these pregnancies there is no diagnosis and nothing to guide genetic counselling”. Moreover, “in children with a presumed genetic pathology, sequencing the whole exome, i.e. every coding part of the genome, diagnoses a genetic cause in 25-35% of cases where karyotyping and CMA are negative”. This examination “can diagnose new inherited and ‘de novo’ variants, as well as variants previously identified in databases as probably pathogenic”.

In a study conducted at Columbia University in New York, whole exome sequencing was offered to parents after structural anomalies were discovered by ultrasound. In 10% of cases, this analysis diagnosed a genetic mutation associated with phenotype. In 20% of cases, whole exome sequencing “identified mutations that were potentially pathogenic but without sufficient evidence to confirm a causal link with the structural anomaly”. This discovery of “mutations of no known significance or unrelated to ultrasound results raises major ethical issues”. Whole exome sequencing during pregnancy is complex data analysis.

[1] which may show chromosome abnormalities (aneuploidies).

[2] which identifies losses or gains of small chromosome abnormalities.

Journal International de Médecine, Catherine Vicariot (26/02/2019)

In 2017, 655 babies with Down syndrome were aborted in the United Kingdom, i.e. 218 more than in 2007. This represents a 50% increase over ten years, mainly due to the use of NIPT. NIPT is a test considered 99% reliable and requires only a simple blood test from the mother. Currently, it is only available in private facilities, but from next year, the NHS will offer it to all pregnant women with a risk of Down syndrome greater than 1/150.

According to the association Don’t Screen Us Out, the generalisation of NIPT could lead on average to an additional 92 abortions due to Down syndrome each year, a 13% decrease in the birth rate. This procedure is likely to have a “profoundly negative impact” on the community of people with Down syndrome, especially since 90% of babies with this condition are already aborted.

Lynn Murray, spokesperson for Don’t Screen Us Out and the mother of an 18-year-old girl with Down syndrome, says these figures are “deeply worrying” and points out that there are other solutions as in Northern Ireland. There is a real “culture of acceptance and support for people with disabilities rather than eliminating them”, she explains, adding that “this is directly reflected in recent official numbers showing that nearly 100% of babies with Down syndrome in Northern Ireland were born“. It is “a very different approach” for Down syndrome where selective abortion due to disability or Down syndrome is illegal.

Daily Mail, Sam Blanchard (14/12/2018)

In Iran, the birth of babies diagnosed with Down’s syndrome has almost stopped. According to Mahmoud Tavallaei, director of the Iranian Genetics Society of Iran, “Over the past few years, only one baby has been born with Down syndrome in 700 to 1,000 births in Iran”. It is the increasingly widespread and effective prenatal diagnostic tests that are slowly leading to the eradication of this population.

Further reading:

Down syndrome: “The first people on the list of endangered species”

Controversy: Is France eugenic?

Down syndrome: “Freedom of choice leads not to more inclusion but to more exclusion”

Down syndrome: novel eugenics from America?

Iran Front Page (03/12/2018)

A clinical trial for pre-conception screening has been officially launched in Australia. The aim is to test the viability of a pre-conception screening programme for subsequent integration into the Australian health system. Researchers will assess its viability, psychological impact and ethics as well as potential obstacles to screening. Thousands of couples will be enrolled in the trial over a three-year period starting in 2019. The test will assess the risk of transmitting 500 genetic diseases.

Diseases related to the X chromosome and inherited as a recessive trait, such as spinal muscular atrophy, cystic fibrosis or fragile, X are targeted in this trial. It is estimated that everyone carries three to five recessive genes that could lead to serious diseases. It is only when both parents carry the same mutation that their child has a one-in-four risk of developing the corresponding genetic disease and a one-in-two risk of being a carrier.

The project is being carried out by the national research network, namely the Australian Genomics Health Alliance in conjunction with the University of Sydney, the Murdoch Children’s Research Institute in Melbourne and the University of Western Australia in Perth. The health professionals involved will inform parents about the test and the “options” available to them depending on the results. Couples with a high risk of having a child with one of these diseases can have access to in-vitro fertilisation followed by pre-implantation diagnosis to ensure that only “healthy” embryos are implanted. They can also decide to “conceive without IVF” and undergo prenatal testing or a test when the child is born, as early diagnosis of these conditions can lead to more effective treatment. They also have the option of embryo, sperm or egg donation. Pregnant women who are confirmed carriers may opt for diagnostic tests such as amniocentesis before considering abortion. Finally adoption is also offered, or couples may consider not having a child.

However, according to the protocol, “couples will only be told they have a genetic mutation if both individuals carry the same mutation for one of the diseases tested for”.

The Australian Department of Health has named this project “Mackenzie’s Mission” in memory of a baby girl born with spinal muscular atrophy who died in October 2017 aged seven months. It is part of the Australian Genomics Health Futures Mission which received a 500 million dollar investment from the federal government’s Future of Medical Research Fund. The Health Minister wants to offer pre-conception screening free of charge to all future parents to allow them to make “informed procreative choices”.

The Sydney Morning Herald (7/10/2018)

“The first people on the list of endangered species”. In Canada, during Down Syndrome week, from 1 to 7 November, the Canadian Down Syndrome Society (CDSS) launched a media campaign to drive Down syndrome to the top of the endangered species list, like bears for instance, and to request the same funding, protection, government intervention and awareness as allocated for this animal species.

Actor Dylan Harman who has Down Syndrome believes that this campaign focuses on his very existence. For him, “everyone has a purpose”.

Laura LaChance, Chair of the Board for the CDSS, believes that people with Down syndrome face unique challenges and need more support than they’ve been given so far. Especially since for 30% of people born with Down syndrome—less than anticipated in some countries like the US and approaching zero in other countries that practice genetic screening—services such as education, financing and housing support leave much to be desired. As the population shrinks, assistance which is already difficult to obtain is becoming increasingly scarce.

Huffington Post, Nathalie Stechyson (06/11/2011)

According to the Finnish  National Institute for Health and Welfare, approximately 70% of Finnish women now opt for an abortion if their unborn child is diagnosed with Down syndrome compared to 50% a decade ago. These figures are increasing at an even faster pace in other Scandinavian countries.

Yle (28/10/2018)

Wales has become the first country in the UK to offer non-invasive prenatal testing (NIPT) on the NHS aimed at women at a higher risk of having a child with Down, Edwards or Patau’s syndrome.

Although some women with Down syndrome children who were interviewed have no objection to the introduction of a safer test, they are concerned about the potential rise in abortions for foetuses diagnosed with this disorder.

Tanika Bartlett-Smith is proud of her son, Leo: “He has changed our lives for the better”. Nevertheless, she faces a constant battle with medical staff over the language used in relation to Down syndrome. She believes that language is more important than ever because of the introduction of this new diagnostic test. She is concerned that, today, the information accompanying the test gives no option for choice. Choice is directed solely towards eliminating Down syndrome. As far as Tanika is concerned, it is as though the government wanted to make part of the human race extinct.

She wants to see a change in the discussions held with pregnant women: “I think that medical staff carrying out the tests ought to say, ‘yes, your child has Down syndrome, but this is the positive life they can lead, this is the positive experience of fellow parents’ […]. But I can’t see that happening”.

Whilst acknowledging that progress should be made in terms of the information available, Health Secretary Vaughan Gething has announced that NIPT should allow informed choice without leading to the elimination of Down, Edwards or Patau’s syndrome. Furthermore, the government has stated that the legislation will be assessed over the next three years.

In the UK, 40,000 people have these genetic anomalies.

ITV Wales, Rob Osborne (11/06/2018)
 

A Brazilian team at the Sabin Laboratory in Brasilia, keen to extend the use of NIPT (non-invasive prenatal testing) which already covers Down syndrome and two other genetic diseases, has devised a test that can reveal baby’s gender simply by taking a blood sample from the mother’s finger. In a test involving one hundred pregnant women, the test proved 100% reliable from the eighth week of pregnancy onwards, according to scientists who conducted the study. Some English women are already paying to have this test in early pregnancy.

However, this new test is giving cause for concern on many levels. “It is feared that this new finger-prick blood test will herald the ‘genocide’ of baby girls in India and China as parents will have more time to decide whether or not to have an abortion.” In India, there is a shortage of approximately 63 million women, whilst in China, the one-child policy in force from 1970 to 2015 has led to a deficit of 34 million women.

Some critics have also expressed concerns about an increased risk of “gender selection”.

Hugh Whittall, Director of the Nuffield Council on Bioethics, commented as follows, “given that there is no point for pregnant women to find out the gender of the foetus in the first few weeks of pregnancy, we believe that manufacturers should not be allowed to disclose this information”.

For further reading:

Selective abortions in Armenia: female population under threat

In India, a doctor fights against female foeticide by offering to deliver baby girls free of charge

Daily Mail, Stephen Matthews et George Martin (24/04/2018)

Health Secretary, Vaughan Gething, wants Wales “to show the way” by making NIPT [1] available to pregnant women from next Monday. This new test is used to accurately diagnose genetic diseases by testing the mother’s blood. It replaces amniocentesis “which carries a 1% risk of miscarriage and a 1 in 1,000 risk of serious infection”. The test screens for Down syndrome, Edward syndrome and Patau syndrome.

The Health Secretary hopes to reduce the number of miscarriages caused by invasive screening tests such as amniocentesis.

Associations such as Do not Screen Us Out are concerned and believe that the test “could trigger more abortions and have a negative impact on the Down syndrome community”.

[1] NIPT – could it be used for other genetic disorders in the future?

Bewilderment surrounding genetic screening prior to a review of bioethics legislation

NIPT: a “reflex” procedure tested in the United Kingdom

Extending non-invasive prenatal testing?

“Medical termination of pregnancy”: heading towards assumed eugenics

Prenatal testing – a source of anxiety for women

Irish News (26/04/2018)

In Germany, 75% of pregnant women are over the age of 35. Consequently, Germany also “has the highest rate of high-risk pregnancies (70%)”. High-risk women are granted free access to various prenatal tests “available on the market”. Women in the “non-risk” category can also have access to these tests but have to pay accordingly.

Given Germany’s eugenic history, which is linked to the Nazi period, the law which was reviewed in 1955, gives women the right” to not know” and has introduced the “right to receive psychosocial support, free of charge, after prenatal testing. If a woman chooses to have an abortion, she is obliged to meet with a psychosocial professional at least 3 days before undergoing the procedure”.

However, “the number of abortions following prenatal detection of incurable diseases remains extremely high”. In 90% of cases, foetuses found to have Down syndrome “are aborted”.

Furthermore, “Germany is also questioning appropriateness of reimbursing NIPT”. Although some defend it in the name of “social justice”, others question the risks of trivialising a test that mostly leads to an abortion in the case of positive results.

Institut Européen de Bioéthique (28/03/2018)

“I am a man with Down Syndrome and my life is worth living”. American actor and athlete, John Franklin Stephens who has Down syndrome, addressed the UN on 15 March 2018. He spoke during a conference organised jointly by Poland, the Philippines, Argentina, Lithuania, Panama and the Sovereign Order of Malta, in support of the Jérôme Lejeune Foundation: “Think of me as a man, not as a birth defect or syndrome. I don’t have to be terminated. I don’t need to be cured. I need to be loved, valued, educated and, sometimes, helped. (…) life with Down syndrome can be as full and exciting as any other”.

Last October, he spoke to the American Congress (see Franck Stephens with Down Syndrome, addresses the American Congress) : “To those who question the value of life for people with Down syndrome, I would like to say 3 things. Firstly, we are a medical gift to society, a blueprint for medical research into cancer, Alzheimer’s disease and immune system disorders. Secondly, we are an inexhaustible source of happiness: a Harvard study has shown that people with Down syndrome and their families are happier than society at large. Finally, we are giving the world a chance to think about the ethics of choosing which humans have the right to live and those who don’t”. On 15 March, he urged the UN: “Let us decide from this day forward to include, not exclude, educate, not isolate and celebrate, not terminate.”

Valeurs actuelles, Charlotte d’Ornellas (20/03/2018)

A team from the Beijing Genomics Institute in China has sequenced the genome of two foetuses in utero, in an attempt to detect their genetic risk for a certain number of diseases. To do this, they collected blood samples from pregnant women in which foetal cells were circulating. Once these cells were isolated, sequencing was carried out. The results have been published in Prenatal Diagnosis. One of the foetuses “presented genetic variants related to intestinal cancer, intestinal disorders and liver diseases” whilst the other foetus “had a gene variant associated with salt imbalance”.

The Chinese team presents the technique as an “improved version” of screening carried out with the parents’ genome and used to “establish the full genetic portrait of the developing foetus”, but this has proved both “complicated and costly”. The scientists also emphasised the fact that their “new” technique can be used “from the first trimester of pregnancy”.

The information obtained with this prenatal test is of limited significance: “The impact of a gene variant on the risk of developing a disease throughout a person’s life in fact varies depending on several factors including environment and lifestyle. The discovery of certain genetic variants in a foetus that has not yet been exposed to the world could ultimately prove nothing more than a slight health risk”. Once conveyed to parents, these results could have dramatic consequences and lead to abortions.

Science post, Brice Louvet (13/02/2018)

The Japanese Obstetrics and Gynaecology Society is scheduled to meet in March to discuss extending access to non-invasive pre-natal screening (NIPS) for Down syndrome and including antenatal tests in general medicine.

NIPS, which was introduced in Japan in 2013, has been carried out to date in “a limited number” of hospitals with a genetics advisory service, for women over the age of 35 or with a history of foetal chromosomal abnormalities.  However, given the increase in demand, other establishments have started to practise this screening technique with no restriction in terms of age or indication. It would appear that NIPS is also being used in these hospitals to determine foetal gender in the very early stages of pregnancy. In an attempt to limit these spin-offs, the society should increase the number of certified hospitals.

Furthermore, the bioethics debate regarding this test is continuing: Those against NIPS regret the fact that,“Over 90% of women diagnosed with foetal abnormalities decided on abortion,” labelling this test as “eugenic” and reproaching the fact that it is so accessible. A study conducted in Japan following the introduction of NIPS shows that the women opted for abortion largely out of anxiety and a lack of confidence when faced with the possibility of giving birth and raising a child with a chromosomal abnormality. 

The Japan Times (29/01/2018)

In the United Kingdom, Louise Johnson decided to speak out and make society more aware of Down syndrome.

 Six years ago, she gave birth to twins, Thomas and Jacob, one of whom has Down syndrome. Nothing was detected during her pregnancy. The doctor asked her if she wanted to hand over the baby to Social Services: “When they asked me if I still wanted to take him home, it took me a minute to understand what they were asking me. I was shocked…. it never crossed my mind for a split second that my twins would not come home,”, she explained.

 Today, the mother of five is afraid that the trivialisation of antenatal screening will trigger a rise in abortions. She therefore chose to share her life with both her sons who “are two handsome little boys who adore each other and love their family”. “Having a child with Down syndrome – it’s just the same as you and me – no-one should be afraid,” she wrote on her Facebook page. “I know that I could not live without him. And if I had known before he was born that Jacob had Down syndrome, I still wouldn’t have given him up for anything. I love him with all my heart”.

Daily Mail, Nick Enoch (24/11/2017)

Between April 2015 and August 2016, five UK maternity hospitals/clinics used Non-Invasive Prenatal Screening (NIPS) as part of a research project to test a “reflex” procedure. As a result, “almost 23,000 pregnancies were tested for Down syndrome, Patau syndrome and Edwards syndrome”. The conclusions, published in  Genetics in Medicine, show that NIPS highlighted one of these disorders in 101 out of 106 foetuses.  With 95% accuracy, “it avoided 530 invasive diagnostic tests”[1], compared to the current procedure involving an ultrasound scan and serum marker assay.

In practice, the women were tested once and the blood sample collected was used for the serum marker assay and, depending on the outcome, for NIPS. This procedure, which is known as “reflex”, is intended to “allay the fears” of large numbers of pregnant women. Only those with a positive NIPS result will attend a genetic consultation. This therefore involves a much smaller cohort compared to the number of women who tested positive at the initial stage, i.e. during the serum marker assay.

The NHS is planning on introducing NIPS into the screening system in 2018. Based on estimates, it would affect 10,000 women each year who are considered to be at risk (1/800) of having a child with Down syndrome, Patau syndrome or Edwards syndrome.

Further reading:

Sally Phillips : Are we heading towards a Down syndrome-free world?

[1] Amniocentesis.

Medical press (8/11/2017); The Guardian, Ian Sample (9/11/2017)

Last week, Frank Stephens, actor, Special Olympics[1]athlete and promotor, presented his life experiences to the United States Congress : “I am a man with Down Syndrome and my life is worth living “. Rather than “proceeding with prenatal screening and abortion, claiming that this is the best solution to rectify the situation“, he wanted to make Congress aware of the need to allocate Federal funds to research how to treat people with Down syndrome: “To those who question the value of people with Down syndrome, I would like to say 3 things. Firstly, we are a medical gift to society, a blueprint for medical research into cancer, Alzheimer’s disease and immune system disorders. Secondly, we are an inexhaustible source of happiness: a Harvard study has shown that people with Down syndrome and their families are happier than society at large. Finally, we are giving the world a chance to think about the ethics of choosing which humans have the right to live and which do not“.

After pointing out the high rate of abortions for unborn babies with Down syndrome (see Down syndrome eradicated by abortion), he went on to add: “Let’s be Americans, not like the Icelanders or Danes. Let’s pursue answers, not “final solutions”. Let’s be proud of our country: let’s make it our goal to be Alzheimer’s-free, not Down syndrome-free “.

Parents whose unborn child has Down syndrome, and who face abortion or are uncertain of what decision to make, will certainly talk to a medical professional or perhaps a religious advisor, but it is unlikely that they will get to speak to an adult with Down syndrome. If the truth about these happy children and adults was more widely known, the chances of a child with Down syndrome being born and living a long life with Down syndrome would be much higher.

[1] Special Olympics is the 1st organisation dedicated to the development through sport  of individuals living with a mental handicap. The  Special Olympics movement was created in the United States in 1968. Operating in almost 180 countries, Special Olympics brings together over 4 million athletes. It is recognised by the IOC (International Olympic Committee). 

The Atlantic, Conor Friedersdorf (30/10/2017)

Published on Thursday in the New England Journal of Medicine, a study led by Professor Mehdi Mejdoubi presents the follow-up results recorded in 103 new-born infants born “to women infected with the Zika virus during pregnancy and in whom antenatal ultrasound scans did not detect any cerebral anomaly“. Based on a brain scan, the study concluded that the 103 babies were normal “apart from 5 with a minor anomaly that was probably not related to the Zika virus“.

 “With these results, we are showing that ultrasound screening has detected all cases of microcephaly prior to birth,” analyses Professor Mejdoubi. Out of the 14 couples whose unborn baby presented signs of microcephaly, 13 opted for an abortion. 

 According to the World Health Organisation, 3,689 babies with Zika-related microcephalies have been recorded on the American continent since 2015.

 [1] Virus that triggers microcephaly – “a brain malformation in the embryo following an infection in the mother caused by an Aedes mosquito during pregnancy“. It is a “severe and irremediable disability (severe intellectual retardation accompanied by various motor disorders). Microcephaly is estimated to affect 1 to 5 % of babies born to women who were infected during pregnancy“.

Figaro, Pauline Fréour (17/10/2017)

For thirty years, predictive genetic tests (“capable of informing a healthy person at the time of the test whether or not he/she will become ill“) have been offered to children with one parent suffering from a genetic disease such as Huntingdon’s disease. Although the outcome was uncertain in the past with children with one sick parent having a one in two chance of developing the condition [1], the test should now “distinguish between those who will develop the disease and those who will be spared“. Before offering such tests, doctors wondered whether the individuals concerned would undergo the test available to them? How would they react to the test result? Contrary to their predictions, however, “the facts suggest that most individuals respond in an essentially counter-intuitive fashion“.

On the one hand, a result confirming the presence of the defective gene “will generally be accepted” whereas “things are far from straightforward” for those who thought they were carriers only to find out that they are not. On the other hand, although initial inquiries indicated that, “approximately 70% of individuals at risk agreed to take the test as soon as it became available“, in reality, only 15% actually did so.

Individuals who do not have the test think: “What’s the point if you can’t change anything?“. This state of mind has also been “corroborated by data recorded for other diseases, showing that diagnostic tests are carried out more frequently when there are real chances of treatment“. As for the 15% who are tested for an incurable disease, “they want to rule out any uncertainty” and “do not want to pass on defective genes to their offspring“. However, this second reason cannot be justified in the case of a prenatal genetic test: “In couples expecting a child where one of the parents has an incurable disease, such tests are used to less of an extent than tests for adults at risk of genetic disease. Most parents choose to have a child who, at the time of their birth, is at risk of one day developing the same condition as them“.

This fact was proven in a French study carried out in 2016. Out of 54 couples enrolled in the study, “45% will conceive a baby naturally, without having the prenatal test“. For others, prenatal screening of the condition will mostly lead to abortion [2]. Some still choose pre-implantation screening whilst others have to give up any hopes of having a child. For Alexandra Dürr, team geneticist, “the desire to have a child is the overriding factor“. In addition, “prenatal tests can be traumatic, especially if they lead to therapeutic abortion and, according to the geneticist, it’s a procedure that no couple takes lightly“. Finally, in a second study pending publication, “thirteen couples wanted to find out about prenatal testing but, before undergoing the test, they confirmed that they would have an abortion in the event of an unfavourable result“. In reality, no-one reacted in this way. Prenatal screening followed by abortion has not eliminated the condition as scientists “had hoped“.

Faced with a vast number of genetic tests on offer, many prefer not to know their risks. Patients’ reactions challenge the predictions of the scientists.

 [1] Huntington’s disease is caused by gene mutation. A child who inherits a copy of the defective gene will develop the condition.

[2] “Doctors have no right to oblige women to have an abortion but international guidelines are strongly in favour of this to prevent the child from undergoing a masked predictive test. In this case, the child’s status would be known regardless of whether or not the child would want to know on reaching adulthood, or know without telling anyone else“

Slate, Laura Spinney (04/10/2017)