What if NIPT is positive? Explanation of what to do after the test【supervised by doctor】

Receive expert guidance on navigating a positive NIPT result at Hiro Clinic. Our doctor-supervised support provides insights on what to do next, ensuring you are informed and supported throughout the process.

If you are pregnant up to 15 weeks, 
it's not too late!

If you are pregnant up to 15 weeks,
it's not too late!

妊娠18週目までの方はまだ間に合います

NIPT test results

NIPT is determined by comparing the number of genetic information from fragments of the baby’s DNA taken from the mother’s blood with a cut-off value that determines whether the chromosomes are normal or abnormal.

NIPT is a screening test to determine the likelihood of a ‘high’ or ‘low’ risk of disease. NIPT is a very effective test as a criterion before a definitive diagnosis of ‘yes’ or ‘no’ chromosomal abnormality is made.

NIPT(新型出生前診断)の検査結果

What is positive?

If the value of the test result is outside the reference range, the result is considered to be ‘positive’ and may indicate a possible chromosomal disease.

What is negative?

If the value of the test result is within the reference range, the result is considered ‘negative’ and there is a low probability of chromosomal disease.

What is re-inspection (withholding judgment)?

A ‘retest (decision withheld)’ may occur for reasons such as ‘the amount of the baby’s DNA in the sample (blood taken) was lower than the standard’ or ‘the test could not be carried out due to medication being taken’.

Highly accurate original test results by Illumina (Verinata) and Medicover only at Hiro Clinic
...

If the NIPT test result is positive, get a confirmatory test

As mentioned above, NIPT is only a screening test and not a test to diagnose whether the foetus has abnormalities in its chromosomes itself. Therefore, even if a baby is diagnosed positive by NIPT, there is a possibility of ‘false positives’, where the baby is negative but is diagnosed positive for a variety of reasons.

It is therefore recommended to undergo definitive tests such as ‘amniotic fluid test’ or ‘chorionic villus test’ to confirm whether the baby really has a chromosomal disease.

What is amniotic fluid testing?

Amniotic fluid test is a ‘test of the chromosomes themselves in the amniotic fluid’. A thin needle is inserted into the mother’s abdomen and the amniotic fluid is taken directly. The amniotic fluid contains an abundance of the baby’s chromosomes, which are analysed to determine the presence of abnormalities in the baby’s chromosomes and genes, and to confirm whether a genetic disorder is present, in order to make a definitive diagnosis.

The appropriate period for amniotic fluid testing is between the 15th and 18th week of pregnancy, when the amniotic fluid is increasing.

What is chorionic villus testing?

Chorionic villus test is a test for genetic abnormalities by obtaining cells from the trophoblasts of foetal origin. It can be performed as early as 10-13 weeks’ gestation, but as the cells are derived from the placenta and not completely from the foetus, it is now considered to be a rarely performed test.

Also, as the foetus and placenta may carry different genes, an amniotic fluid test is considered appropriate for an accurate and definitive diagnosis.

What is an amniotic fluid test? This section explains the testing methods and costs【supervised by doctor】
Explore the details of amniotic fluid testing with our comprehensive explanation, supervised by experienced doctors at H...

Schedule your test with a positive result in mind

NIPT is available from 10 weeks 0 days, but is by appointment only at most testing facilities. Therefore, if you want to have a NIPT as soon as you are 10 weeks pregnant, it is advisable to make an appointment with the laboratory before that (by 9 weeks’ gestation).

If the NIPT result is found to be positive and you wish to have an amniotic fluid test as a definitive test, the test can be done from 15 weeks’ gestation, but it takes about three to four weeks before the results are known, as the cells are cultured for determination. Therefore, if an amniotic fluid test is taken at 15 weeks’ gestation, a confirmed diagnosis is not likely to be made until around 18-19 weeks’ gestation.

The later you undergo NIPT, the less time you have to prepare for a definitive diagnosis, so it is important to schedule your NIPT with the possibility of undergoing an amniotic fluid test in mind.

【Sample schedule】

8-9 weeks’ gestation 2/1 (8 weeks 0 days) NIPT test appointments
From 10 weeks 0 days of gestation 2/15 (10 weeks 0 days) NIPT test conducted
10-11 weeks’ gestation 2/18 (10 weeks 3 days)~ Receive NIPT test results → if positive, consider and book an amniocentesis test
15 weeks’ gestation 3/22 (15 weeks 0 days) If NIPT positive: amniotic fluid test conducted
18-19 weeks’ gestation 4/12 (18 weeks 0 days)~ Receipt of amniotic fluid test results (approx.)
検査のスケジュールを立てましょう

What if the NIPT results from the Hiro Clinic NIPT are positive?

Excellent post-inspection follow-up for peace of mind

At Hiro Clinic NIPT, if you have a positive NIPT test result, our team of gynaecologists, paediatricians, clinical geneticists and genetic technicians will support you after the test.

In addition, if a re-test (decision pending) is required, you can rest assured that you will receive detailed explanations on how to proceed with the test in the future.

ヒロクリニックNIPTのNIPT検査後のフォロー

After the examination, you can apply for a consultation with a specialist

Hiro Clinic NIPT is staffed by specialists from the Japan Society of Obstetrics and Gynaecology, prenatal consulting paediatricians and clinical genetic specialists, who are available for consultations on the day of the NIPT test. If you wish to have a consultation after the NIPT test, a doctor on the staff team is available for consultation and genetic counselling. Please call us if you would like to book this service. Depending on the schedule of the doctor in charge, appointments can be made.

Excellent follow-up on amniotic fluid testing costs

Amniotic fluid testing, like NIPT, is not covered by insurance and is an unregulated procedure. The cost varies from laboratory to laboratory, but the average cost of amniotic fluid testing for the 111 cases supported by Hiro Clinic NIPT is JPY 162,272, which is a very large financial burden if you decide to have an amniotic fluid test after NIPT.

Hiro Clinic NIPT offers an amniotic fluid test support system to help with the cost of an amniotic fluid test so that women do not have to give up on having a definitive test because of the cost burden.

Amniotic fluid testing support for peace of mind

Hiro Clinic NIPT offers amniotic fluid testing support organised by partner laboratories. The fee is JPY 3,000 (excluding tax). By using the amniotic fluid test support, you can receive a subsidy of up to 200,000 yen (including tax) for the cost of an amniotic fluid test if the test result is positive.

To avoid problems if the NIPT test result is positive, you can enrol in the amniotic fluid test support service when you apply for the NIPT test.

There is also a very low chance that the NIPT may be retested twice in a row, resulting in an ‘inconclusive’ result. Pregnant women who wish to have an amnio test in such cases can also use the amnio test support to receive assistance with the cost of the amnio test.。

※For more information on the reasons why a determination is not possible, please click here.

Information on medical centres where amniotic fluid testing is available

Hiro Clinic NIPT will guide you to the medical centres that offer amniotic fluid testing. Regardless of which medical institution you have your amniotic fluid tested at, you are covered by the amniotic fluid testing support. Of course, amniotic fluid testing at your family doctor is also covered by the amniotic fluid testing support if you are enrolled in the programme, but some people may think that they do not want their doctor to know. In that case, Hiro Clinic NIPT will support you.

NIPT test analysis data can be compared with amniotic fluid test results

Data (positive scores) analysed from the results of over 48,000 NIPT tests performed by Hiro Clinic NIPT to date can be compared and discussed with the results of amniotic fluid tests.

‘Positive score’ analysed from data on 48,000 pregnant women in Japan
Explore insights into Positive Scores derived from comprehensive data analysis on 48,000 pregnant women in Japan. Learn ...

If you want to have NIPT, go to a facility with excellent follow-up care

NIPT has its own characteristics depending on the medical institution performing the test. When choosing a medical institution, it is important not only to compare prices, but also to gather information on the contents of the test and the follow-up services provided. It is also important to set a schedule that takes into account the possibility of receiving a definitive diagnosis. Find out about the health of the foetus as early as possible and have a healthy pregnancy and delivery.

At Hiro Clinic NIPT, specialists from the Japan Society of Obstetrics and Gynaecology, prenatal consultant paediatricians, clinical geneticists and genetic technicians are on staff to provide post-test consultations and genetic counselling, and we also offer a subsidy system for expensive amniotic fluid tests. If the NIPT result is positive, we will support pregnant women with excellent follow-up services.

Summary of follow-up after Hiro Clinic NIPT testing

The follow-up arrangements for Hiro Clinic NIPT are summarised below. If you would like to make an appointment, please call us and make an appointment.

Medical examination on non-inspection days Direct or remote 20 mins JPY 4,000
(JPY 4,400 incl. tax)
Examination by a clinical geneticist Remote 20 mins JPY 4,000
(JPY 4,400 incl. tax)
Amniotic fluid testing support
(follow-up on amniotic fluid testing costs)
One-time payment only JPY 3,000
(JPY 3,000 incl. tax)

※The following criteria are used to subsidise the cost of amniocentesis.

  1. If aneuploidy of chromosomes 1-22 or sex chromosomes (all chromosomes) is positive, assistance is provided for the G-band test and qf-PCR assay.
  2. If the whole autosomal whole-region partial deletion disease is positive, assistance is provided for G-band, qf-PCR and microarray methods.
  3. Subsidies are provided for cases where the Hiro Clinic NIPT is still inconclusive after two tests.

※Amniotic fluid testing support is not available if a stand-alone chromosome plan is selected.

Receive expert guidance on navigating a positive NIPT result at Hiro Clinic. Our doctor-supervised support provides insights on what to do next, ensuring you are informed and supported throughout the process.

Read more about Amniotic Fluid Testing

Read more about Amniotic Fluid Testing

Article Editorial Supervisor


Dr Hiroshi Oka

Dr Hiroshi Oka

NIPT specialist clinic, MD

Graduated from Keio University, School of Medicine

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