Findings from 40,000 cases of inspections

Linked to the Tokyo Sanitary Laboratory,
handles big data

Analysis can be carried out using statistical data in conjunction with the data server of the group company Tokyo Sanitary Laboratory.

There are 40,000 statistical data available
to give positive scores for chromosome 21, 18 and 13 trisomies

Below are sample data for chromosome 21. A comparative analysis of these many data and the sample data concludes that the patient has trisomy 21.

The positive score provided to you is data that is handled independently by the Tokyo Sanitary Laboratory. It is calculated based on the approximate value to determine the size of the number and whether it corresponds to trisomy 21 or not.

32,000件の統計データがあるから21番の陽性スコアが出せる

Hiro Clinic is always in constant consultation with the Tokyo Sanitary Laboratory and will make every effort to submit better test results.

The positive score for chromosome 21 trisomy (Down’s syndrome) has been explained, but the same is also calculated for chromosome 18 trisomy and chromosome 13 trisomy, and the graph explains the relationship between patients who tested positive at the clinic and the actual amniotic fluid test. This is made possible by the fact that a certain number of specimens are required to calculate this data and by the fact that the laboratory has staff to carry out detailed numerical analysis.

Inspection results are not only processed by machine,
but also checked by specialist staff

From the point of view of the examinee, NIPT is a low physical risk test that only requires a blood sample.There are rare cases – one in thousands – and rare cases occur that cannot be identified simply by looking at the test report. In these rare cases, the actual figures are analysed and the causes are discussed as genetic specialists to produce test results.We also share information on the clinical findings that we receive when we receive the specimen, and we not only try to identify possible causes from this information, but we also make enquiries with the patient if necessary.

They are also asked by email to enquire about their clinical progress after delivery.Amniotic fluid testing is also not 100% reliable. We receive clinical results from patients who have actually completed their pregnancy, which are reflected in our database and reconsidered retrospectively over time.

Specialists are available to
deal with rare cases

Vanishing twin potentially exists

Vanishing twinning occurs in the early stages of pregnancy with twins and is a condition in which one of the twins who has died, e.g. due to miscarriage, is absorbed from the uterus into the mother.

Genetic abnormalities in the mother are suggested.

Intrinsic cancer, maternal mosaic

Fetal Fraction (FF) is low and
can be adequately addressed

FF is Cell free DNA derived from the placenta of the foetus, but if this number is low, testing becomes difficult.      

Phone consultation

Can gender incongruence occur?

This is because, although genetically it is a very unlikely case, the appearance of boys and girls can differ from the genetic expression.
Male hormones are produced by the Y chromosome and when they act properly they result in a boy, despite the presence of a Y chromosome, However, there are cases in which a girl child is born with a girl’s appearance due to abnormalities in sex hormone receptors.
This is also determined comprehensively by looking at the Y chromosome score.

Y染色体のスコア

Whether this figure is close to the cut-off value needs to be verified.
Other clinics only give negative or positive results, but at Hiro Clinic the above data can be viewed.

As domestic inspections will start in mid-April 2022, we will be able to provide more accurate information earlier than before.

This is possible because the Hiro Group has all the equipment, organisation and know-how required for NIPT.