From March 1, a simple blood test is available in the USA that can detect Down’s syndrome and other genetic diseases of the fetus at a very early stage of pregnancy. The test developed by scientists from Stanford University opens up the perspective of a world free from congenital genetic defects.
A simple blood test allows women to avoid risky and much more invasive tests, such as amniocentesis, which are performed later in pregnancy. Although it seems like a salvation, the test arouses social controversy from the beginning and is seen as a harbinger of the not too distant future in which the characteristics of the fetus – from deadly diseases to hair color – will be known immediately after conception, when possible abortion is safe and uncomplicated. The study, which costs around $ 1200, is nothing more than a 10-week fetal DNA analysis. The license for the test developed by Stanford University scientist, biophysicist Stephen Quake, is the Californian biotechnology company Verinata Health.
“This is a revolution in diagnostics,” says Hank Greely, a law professor at Stanford University who studies the legal and ethical implications of new technologies. In his opinion, “the future of science will fuel the controversy around abortion even more.” Already today, Greely sees two conflicting trends. Here are running politicians who are doing their best to curtail reproductive rights at a time when science is on the verge of giving future parents a huge amount of information about the fetus. A similar test is already being produced by the San Diego-based Sequenom company, and at least two companies from the San Francisco area intend to introduce non-invasive prenatal genetic testing. The market is huge: 4,5 million children are born to the world every year in the USA, including an estimated 750. it is a “high-risk” group due to the age of parents or the family’s predisposition to illness.
Currently available tests allow to detect abnormalities within three chromosomes: 13, 18 and 21. They also allow to determine whether the fetus is a boy or a girl. But perhaps in the next five years, thanks to a simple blood test from a pregnant woman, it will be possible to determine the genetic profile of the fetus and detect not only Down’s syndrome, but many dangerous diseases, such as cystic fibrosis, sickle cell anemia, or Tay-Sachs disease, “he predicts Greely.
“I doubt parents would terminate their pregnancies because the baby has blonde hair or is genetically unfit for a sports career,” says Greely. – I think, however, that the number of abortions performed mainly for medical reasons, but also non-medical ones, e.g. due to gender, which can be determined much earlier, will increase significantly. The decision can be made before anyone realizes that the woman is pregnant, so at a time when the procedure is less complicated, both medically and socially, adds the scientist.
According to experts, there are times when parents will be spared the trauma of a newborn’s death or the drama of knowing that their child starts a life full of pain and will be doomed to a serious disability. The effectiveness of the test was recently reported by the journal of the American Congress of Obstetrics and Gynecology, which published a long-awaited report on a clinical trial sponsored by Verinata. According to the authors of the report, the test detected all 89 cases of Down’s syndrome in 532 blood samples of pregnant women; as well as 35 out of 36 cases of Edwards’ syndrome and 11 out of 14 cases of the two more serious syndromes of congenital malformations. Such a high percentage of detections was due to the fact that women from the high-risk age group participated in the clinical trial; those for whom conventional tests have confirmed fetal chromosomal abnormalities; and mothers who have previously given birth to a child with such defects. The test results were compared with the later birth statistics.
Quake became interested in the study in 2004, when his first child was born. “I’ve been watching these incredibly unpleasant, invasive tests my wife and unborn baby were going through, and I thought there had to be a better way.” While conducting his search, he came across a 1948 study which showed that traces of fetal DNA could be detected in the blood of a pregnant woman. At that time, however, scientists did not have the tools that would allow the genetic material to be examined precisely enough to make a clear diagnosis.
The new test makes it possible to test millions of DNA molecules of the mother and baby and detect genetic material that signals birth defects. The doctor takes a blood sample from the patient and after 8-10 days it is known if any of the tested chromosomes have any aberrations.
Santa Clara’s Katie Fischl Fuller, who is expecting a resolution in March, regrets not having had the opportunity to undergo such a test herself. “Amniocentesis is a terrible, very invasive procedure,” he says. – They insert a needle into the abdomen and puncture the amnion, and this can lead to complications, such as damage to the placenta and even to the fetus. The risk of miscarriage is 1 in 250, maybe 300 – once you feel the baby move, the bond is established.
The test is praised by opponents of abortion, who claim that such a test will give parents time to get used to the idea that a disabled child will be born. “But if it was a diagnosis for destruction, and the study ended with an abortion decision, then we won’t endorse the test,” said Cecelia Cody, director of California Right to Life, Walnut Creek. – I do not think that the world would become better without such children. From here it is only a step to Hitler’s eugenics, to deciding who should live and who should not, right? If the baby is found to have a cleft palate, should he die?
“It’s hard to predict how people will use this information,” said Michael Katz, medical director of the March of Dimes Foundation. The test is now out of the experimental phase and will soon become commonplace. “All other tests will be irrelevant soon,” Katz predicts.
Text: Lisa M. Krieger