About amniotic fluid testing
NIPT is not a definitive test.
Even if the baby is diagnosed positive, there is a possibility of ‘false positives‘, where the baby is negative but is diagnosed positive for a variety of reasons.
For those who test positive, an amniotic fluid test is recommended as a definitive test.
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What is amniotic fluid testing?
Amniotic fluid testing is a ‘test of the chromosomes themselves in the amniotic fluid’. The amniotic fluid is taken and examined to find out which of the baby’s chromosomes are abnormal.
The appropriate time for an amniotic fluid test is said to be between the 15th and 18th week of pregnancy, when the amniotic fluid is increasing, and the test is often carried out within this period.
Conventional amniotic fluid tests include specific genetic analysis methods such as chromosome segregation and FISH.
These tests can reveal the presence or absence of chromosomal abnormalities such as 21 trisomies, which can cause Down’s syndrome, as well as other genetic abnormalities such as structural abnormalities ※１.
※１ Inversions, translocations, large deletions and duplications
See also the Hiro Clinic NIPT column for an explanation.
In the unlikely event that the Hiro Clinic NIPT 228 genetic test detects a high risk in the genetic combination of the parents, an amniotic fluid test using the NGS method is performed to confirm whether the detected risk is actually passed on to the foetus.
Amniotic fluid testing support is also available
Hiro Clinic NIPT offers support for amniotic fluid testing organised by partner laboratories. Patients with a positive test result can receive a subsidy of up to JPY 200,000 for the cost of an amniotic fluid test.
Criteria for amniotic fluid testing cost assistance have been established, see ‘Amniotic fluid testing support’ for more information.
A positive score will be given.
A Positive Score Report is available free of charge, which provides a combination of a ‘positive score’ and a ‘positive predictive value’ from the results of NIPT tests performed at Hiro Clinic NIPT to date.
