Philippa Taylor

New test highlights a stark paradox at the heart of prenatal testing

Philippa Taylor is Head of Public Policy at CMF. She has an MA in Bioethics from St Mary’s University College and a background in policy work on bioethics and family issues.
The views expressed do not necessarily reflect those of CMF.

It is easy to garner opposition to prenatal testing and abortion of fetuses found with a duplicate X-chromosome in each cell.  This is a condition commonly diagnosed as “female.”

The testing of a fetus to find out its sex, with the aim of aborting it if it is not the ‘right’ or ‘wanted’ gender is abhorrent to most people.  While the practice is widespread in some Asian countries it is generally accepted elsewhere that it is highly unethical as well as discriminatory towards females, because it is primarily female fetuses that are aborted.  Even the usually pro-abortion UNFPA issued a press statement earlier this month declaring that: “Joint international and national actions to end prenatal sex selection and discrimination against women should remain a priority for all.” Their statement states that sex selection reinforces discriminatory attitudes towards women and girls.

Last month a Council of Europe draft resolution condemning the practice of pre-natal sex selection was debated and approved.  It recommends that countries introduce legislation with a view to prohibiting sex selection in the context of assisted reproduction technologies and legal abortion and, more controversially, that public hospitals instruct doctors to withhold information about the sex of the fetus.

However it is a different story altogether for any fetus that has a third copy of the 21st chromosome in each of his/her cells. This is a condition commonly diagnosed as Down’s syndrome.  The two are treated very differently.

For double-X, prenatal testing is widely regarded as unethical if its purpose is to abort based on the sex of the baby. Yet for Trisomy 21, it is required to offer prenatal testing in order to allow for aborting the baby based on its genetic condition.

In France, where 96% of fetuses with Down’s syndrome are aborted, a Parisian Deputy in Parliament apparently said last month: “The real question I ask myself is why is there still 4 percent?

Unfortunately, his question may well soon be answered, as this miniscule 4% survival rate is likely to drop even further.

A lead story in The Times this weekend (October 29th) reports on the launch ofa new test that is more effective, and less invasive, in detecting Down’s syndrome.  It has been available for the last month in 20 major metropolitan regions across the US, at a cost of $235 for the test.  The Times says it will be offered in the UK, by the NHS, within a year. Tests such as this one have been the subject of a previous CMF blog by Peter Saunders.

Currently, screening technology for Down’s syndrome includes serum marker analysis, such as the quad screen and first trimester combined screening that combines serum marker testing with nuchal translucency. These approaches have detection or sensitivity rates of 80% and 85% to 87%, respectively, which means that between 13% and 20% of all Down’s syndrome-affected pregnancies will not be identified as needing further evaluation. Moreover, these tests also have false positive rates of between 5% to 10%, resulting in hundreds of thousands of invasive CVS or amniocentesis procedures which carry a risk of miscarriage in the range of one-in-100 to one-in-300.

In contrast, this new test measures maternal DNA and detects nearly all unborn children with Down’s syndrome at a very low false-positive rate.  According to an article in the journal Genetics in Medicine, the clinical review of this test picked up 98.6% of Down’s syndrome children and had a false positive rate of only 0.2%.  The test can be used as early as 10 weeks into a pregnancy.

The ethics of the test are skirted with the standard commentary. The lab offering the test issued a press release saying that: “We…are proud to offer the service to assist specialists and high-risk patients in making more informed decisions about their pregnancy.” (Note the use of the words ‘high risk’ here, rather than the words ‘high chance’. ‘Risk’ implies something unwanted and unpleasant).

The test is called MaterniT21, somewhat ironic in view of the fact that nearly all of the children detected by the test will be aborted.

What lies behind this differential treatment of the two ‘conditions’, female and Down’s syndrome? Obviously only one is a genetic anomaly, and it is true that disabilities can create challenges for both those who have the disability and their families. Some parents might even feel tempted to ‘spare’ a child with Down’s syndrome from a life of suffering, or feel that they cannot cope with the psychological, financial and physical burden of bringing up such a child. Some may consider that children with Down’s syndrome offer less to society, and their families, than otherwise healthy females.

Down’s syndrome is associated with intellectual disability, and sometimes with other congenital anomalies, and as such may raise challenges for parents and society.  But while we might want to eliminate the anomaly, that is not the same as eliminating a child with the anomaly. The child who has Down’s syndrome is as much a member of the human family, as an able-bodied female child is, and deserves the same welcome. And, of course, any disabled person will still cherish life and have much to give to society.

It is the last point I want to develop, in the light of new research on Down’s syndrome children published in the American Journal of Medical Genetics last month. This found that more than three-quarters of parents with a Down’s syndrome child had a more positive outlook on life and almost 90% of siblings said they considered themselves better people because of their family member with Down’s syndrome. Moreover, it found that nearly 99% of people with Down’s syndrome are happy with their lives.  Overwhelmingly, parents and siblings reported loving, and having pride in, their family member with Down’s syndrome.

The majority of parents reported that their sons and daughters without Down’s Syndrome are more sensitive and caring because of their son/daughter with Down’s syndrome.

Here are selected quotes from parents of people with Down’s syndrome, but I would also highly recommend reading some of the other quotes in the research.

Life is all about attitude and perspective. Sometimes the people we think need the most help are actually the ones providing…help to the rest of us”;

 

“I’ve redefined the way I measure success in my life. It’s not based on material things, money, or power. It is based on family happiness, taking care of each other…”;

 

“My definition of normal has changed”;

 

“I look at people with less prejudice, but see the potential in everyone.”

 

“I’ve learned that a person’s worth is not measured by an IQ score

We would do well to consider what the world is missing by drastically reducing the number of people with Down’s syndrome. If society is so concerned about the societal impact of reducing the number of females through gender selection, should we not also be concerned about the societal impact of reducing the natural number of individuals with Down’s syndrome?

Underlying this is an inconsistency in the reasoning supporting testing for Down’s syndrome but not for sex.  The reasons given to support banning prenatal testing for sex selection should also apply for banning prenatal testing for selecting against Down’s  It might be challenging, but the two deserve the same welcome.

Posted by Philippa Taylor
CMF Head of Public Policy

Comments

comments

By commenting on this blog you agree to abide by our Terms and Conditions. Although we will do our utmost to avoid it, we reserve the right to edit, move or delete any comments which do not follow the guidelines provided.

Tags: ,