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.
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