New guidelines were approved Feb. 18 to expand the number of certified medical institutions that can provide prenatal genetic screening to detect chromosomal abnormalities in fetuses.
Non-invasive prenatal genetic testing (NIPT) is offered to pregnant women concerned about the possible risk of their baby being born with Down syndrome and other disorders.
The new guidelines authorized by a committee under the Japan Association of Medical Sciences open the door for women of all ages to take the NIPT if they continue to harbor concerns after undergoing genetic counseling with a specialist.
Under the current system, only women aged 35 and older are eligible to take the screening test at authorized facilities. This resulted in many women opting to use facilities that are not authorized, mainly due to the cheaper cost of the blood test being offered.
But problems emerged because many of those facilities are not equipped to conduct the follow-up diagnostic testing if an NIPT test proves positive or do not provide adequate follow-up counseling.
Currently, 108 medical institutions are authorized to offer the NIPT, but this will be expanded by threefold to include smaller medical clinics. The new guidelines could take effect as early as April.
Japan introduced NIPT screening from 2013 but with limitations due to concerns that a rapid spread in testing could lead to increased discrimination against those with disabilities, including Down syndrome.
The consortium of medical facilities authorized to offer NIPT found that around 90 percent of women whose fetuses were diagnosed as having a chromosomal abnormality chose to have an abortion.
Under the new guidelines, the NIPT, in principle, will be available to older pregnant women as well as those who have been told of a chromosomal abnormality based on ultrasonic testing. But the new rules will also cover women, regardless of age, who hold concerns about their fetus.
Clinics will be encouraged to team up with university hospitals with specialized staff who can provide appropriate counseling and testing procedures. The clinics will also be required to have full-time obstetricians and gynecologists on hand who have specialized knowledge about clinical genetic screening or who have received training in such matters.
The decision to increase the number of authorized medical institutions aims to reduce a regional disparity that now exists. Of the 108 authorized institutions, 21 are located in Tokyo and there are seven prefectures without an authorized facility.
(This article was written by Mirei Jinguji and Kazuya Goto.)