Rules pave way for new prenatal blood test

Guidelines expected to give women access to safer, but controversial, Down syndrome exam


Staff Writer

The Japan Society of Obstetrics and Gynecology released guidelines Saturday for conducting clinical studies on a new prenatal blood test that makes it easier to detect chromosomal abnormalities in fetuses but could end up fueling abortions.

The controversial exam, which is designed to detect trisomy 21 — the origin of Down syndrome — and other chromosomal abnormalities, will be available to pregnant women of “advanced age,” generally considered 35 or older, and those found at risk of carrying babies with such abnormalities in earlier exams, including sonograms.

It will also be available to women who have previously given birth to babies with such defects, which are caused by cells with extra chromosomes.

The guidelines state that the facilities conducting the research must have full-time obstetricians, gynecologists and pediatricians with sufficient knowledge and experience in prenatal diagnosis, especially with trisomy 13, 18 and 21. They also urge that certified genetic counselors who can advise would-be parents on the scientific aspects and treatments for trisomic problems be present.

Medical facilities interested in conducting the research must be approved and registered by a special panel set up under the Japanese Association of Medical Sciences on Saturday. The test itself could debut as early as April.

The National Center for Child Health and Development and Showa University Hospital in Tokyo have already shown interest in offering the tests.

Sequenom Inc., the U.S. company that developed the technique in 2011, claims a 99.1 percent detection rate for trisomy 21. The guidelines, however, say the new test has a “relatively” higher accuracy than previous blood tests but that the results remain “nondefinite.”

Some medical experts praise the new test because it bypasses more invasive and risky procedures, such as chorionic villus sampling or amniocentesis, which both require long needles to be inserted into the uterus. Currently, these are still the only two methods available to conclusively determine the presence of Down syndrome.

Studies show amniocentesis is associated with a miscarriage risk of 1 in 300 tests, and chorionic villus sampling is even riskier.

Other experts are concerned that the simplicity of the test will promote abortions and discrimination against people with Down syndrome.

“If the screening test is widely conducted because of its simplicity, it could lead to the prevention of the birth of fetuses with chromosomal abnormalities and to denying the lives of people with such abnormalities,” the JSOG statement said.

The society released a draft of the guidelines in December for public comment before officially adopting them Saturday.

Katsuyuki Kinoshita, chairman of the Japan Association of Obstetricians and Gynecologists, which mainly represents doctors with private clinics, said it backs the JSOG’s effort to limit clinical testing to certain institutions but thinks the rules might ease in the future to allow private clinics. Kinoshita said that demand for the new blood test is high and that restrictions could prevent doctors from conducting them.

  • jmanngod

    such testing (and if necessary, followup abortions) should be available to every pregnant woman as a right.

    • ume

      I have to say that I totally disagree with you. While I would definitely grant this test to women who have had a baby born with a disability o abnormality before, I would not grant it to everyone over 35 based on age alone, at least not on tax payers money.

      Women in Japan are not stupid – they KNOW that if they have a baby at 35, 40 or 45 there is a very high chance of downs syndrome, and to dish out abortions right left and centre for no other reason than the finding of trisomy 21, is scary. What’s next – aborting because of cleft lips? or gender? aborting because the baby has brown eyes and the parents want blue?

      • jmanngod

        in fact ‘what is next’ is allowing people to choose to do what they wish with their bodies

      • ume

        But the thing is … its not JUST their body. Not at the point where they make the choice to get pregnant. Its the body of the child growing inside them too, and from that point onwards it is not JUST about them, and the child should be given some consideration in the matter.

        I dont know if you have children or not, but I do, and going into parenthood with the attitude that “Its my body and I will do whatever the heck I like with it” (in reference to aborting because of minor abnormalities, or gender disappointment) is a recipe for disaster. Even if you do bear a healthy child with no abnormalities, that kind of selfish attitude will not get you far when you have a small child who demands your attention 24/7.

        Of course, It is a major generalization, and Im sure not all mothers are like this, but in my experience the older mothers at risk of these conditions have a much more “self entitled“ attitude – they worked hard, made money, got promoted, eventually met a perfect man, had a perfect wedding, and now they expect this perfect child, and when it doesn’t necessarily happen, they get mad.

        The reason that most babies with down syndrome are born to younger mothers isn’t because the conception rate is higher, or the detection rate is lower, but because they choose to keep the babies more often. I read that the abortion rate of downs syndrome babies of mothers over 37 is 97%. I suspect it is much lower among women having children at a younger age.

      • jmanngod

        The foetus is NOT a child until born and has no rights. If the Mother (and father – who’s rights are disgracefully ignored; especially so in Japan) chooses to take on the burden of a disabled child that is their right. I have no issue with that. However, the right to terminate lies with the parents and shall be subject to no outside interference. Hence, falure to notify the parents of potential disabilities by the medical profession should be punished severely.