Question 1

Can anyone take the NIPT(Non-invasive Prenatal Testing)?

Accepted Answer

There is no age restriction for testing at Hiro Clinic NIPT.

	Anyone who is 10 weeks pregnant or later may take the test, but it is recommended that the test be taken on your 14th week if you plan to take an amniotic fluid test in case your result turns.
	Pregnant women with twins are also eligible for this test.
Please consult with us if you have Vanishing Twin Syndrome.

However, the testing may not be accurate in the following cases:

	If you yourself have trisomy, monosomy, etc.
	If the mother has a genetic abnormality
	If your fetus has triploidy or tetraploidy
	Those who have undergone stem cell therapy
	Those who have undergone immunotherapy
	Those who have received an organ transplant
	Those who have had a blood transfusion in the past 12 months

Question 2

全常染色体全領域部分欠失・重複の検査で微小欠失症候群を見つけることはありますか？

Accepted Answer

全常染色体全領域部分欠失の検査によって一部の微小欠失症候群を発見することが可能です。1p36欠失症のような大きな欠失を含む場合、検出できます。

Question 3

転座型のダウン症候群は、NIPTで陽性となることはありますか？

Accepted Answer

転座型ダウン症候群でもNIPTで陽性反応はでます。。この検査は21番染色体の数を検出し、増加していれば陽性と判断されます。転座型の場合、21番染色体が増加しているため、21番トリソミーとして検出されます。ただし、NIPTは妊娠中の胎児に対する検査のため、母親自身がキャリア（保因者）かどうかは検査できません。

Question 4

13番染色体、18番染色体、21番染色体以外のトリソミーで生まれる子どもの寿命はどれくらいですか？

Accepted Answer

13番染色体、18番染色体、21番染色体以外のトリソミーを持つ子どもたちは、通常は生まれてすぐに亡くなるため、平均寿命はほぼ0歳とされています。

Question 5

どのようなケースに判定不能になりますか？

Accepted Answer

母体から採取した血液に胎児のDNAが少ないと判定不能になります。主に母体のBMIが高いケースで判定不能になることが多いです。その他、母体の体質異常により判定不能となる場合があります。

Question 6

染色体異常で流産する確率はどのくらいでしょうか？

Accepted Answer

染色体異常がある場合の流産率は非常に高く、約90％以上とされています。染色体異常、例えば13番や18番染色体の異常になると、流産率はさらに高くなります。これらの場合、ほとんどの胎児が生まれてくることはありません。したがって、これらの染色体異常における流産率は90%以上とも言われています。

Question 7

微小欠失症候群が見つかった場合、難病であることが多いですか？

Accepted Answer

ヒロクリニックで検査可能な微小欠失症候群は見つかった場合、難病となります。例えばディジョージ症候群など、特定の遺伝子領域の欠損が非常に小さいにも関わらず、顕著な症状を引き起こすことがあります。これらは発達遅滞や精神発達遅滞など深刻な影響を伴います。

Question 8

漢方薬は検査に影響しますか？

Accepted Answer

一般的に、漢方薬は検査結果に影響を与えません。ただし、ヘパリン製剤（ヘパリン類似製剤）をご使用されている方は、検査に影響が出る恐れがあります。 採血前12時間は使用の一時的な停止をお願いしております。

Question 9

NIPT検査で性別はわかりますか？

Accepted Answer

はい、当クリニックのNIPT検査では、胎児の性別判定も可能です。この検査は母親の血液から胎児のDNAを分析し、妊娠の早期から性染色体の情報をもとに性別を判定します。当クリニックでは高い精度で性別判定を行っており、安心してご利用いただけます。

Question 10

At which clinics is the NIPT test available?

Accepted Answer

NIPT testing is available at all Hiro clinics nationwide in the Kanto, Hokkaido, Kansai, Chubu, and Kyushu regions.
Please check Clinic Information for clinics that can perform the NIPT test.

Question 11

For those who are considering the test

Accepted Answer

Question 12

How long does a consultation take?

Accepted Answer

Approximately 45 minutes. Please note that it may take more than 1 hour during busy periods.
Please allocate enough time for your visit, as there may be a waiting time depending on the situation.

Question 13

Can I go alone when I go for an appointment?

Accepted Answer

Yes, expectant mothers may come alone.

Question 14

I am considering to have a child at an older age. Are there any age restrictions for testing?

Accepted Answer

There are no age restrictions.

Question 15

Is this test covered by medical insurance?

Accepted Answer

This test is not covered by medical insurance.

Question 16

Do I need a referral letter from an obstetrician/gynecologist for the testing?

Accepted Answer

No referral letter is required.

Question 17

Can I claim a deduction for medical expenses?

Accepted Answer

Medical Expense Deduction is not applicable.

Question 18

Where is the Testing Laboratory?

Accepted Answer

Second Tokyo Clinical Laboratory

Question 19

Do you offer remote medical services?

Accepted Answer

If you have any questions concerning your results when you receive them, we will be happy to answer them. Please let the receptionist know your request at the time of your first visit.

Question 20

How are the specimens sent?

Accepted Answer

From clinics outside the Tokyo metropolitan area, specimens can be transported quickly by both motorcycle and air mail. 
The test is performed domestically and results are reported by e-mail, which is the fastest and most accurate way to receive the results anywhere.

Question 21

How do I prepare to receive my test results by email?

Accepted Answer

The test results, and confirmation email you will get after completing the medical questionnaire will be sent from the domain '@nipt-result.com'.
If you have set your iPhone, smart phone, or cell phone to reject e-mails from this domain, you will not be able to receive e-mails from '@nipt-result.com'. Please make sure to set your e-mail address to be able to receive e-mails from '@nipt-result.com'.

Question 22

What is the difference between Basic Plan O and Basic Plan A? Is it just to gender identification?

Accepted Answer

Basic Plan O is the same as that of a university hospitals and only tests for chromosomes 13, 18, and 21.
Basic Plan A tests chromosomes 13, 18, and 21 and identify the number of sex chromosomes.
--------------------------------------
The most common abnormal findings observed in testing the number of sex chromosomes are Klinefelter's syndrome (XXY, XXXY, XY/XXY), Turner's syndrome (X), and Superwoman's syndrome (XXX).
The reason why university hospitals do not perform this gender test is because they discourage gender preselection and because gender chromosome abnormalities have relatively mild symptoms.
More information on the relatively frequently occurring chromosomal abnormality is explained here.

Question 23

How long does it take to get the results of 228 types of Recessive Genetic Test?

Accepted Answer

The test results will be sent to you by email approximately 2-3 weeks after the returned test kit arrives at the testing facility. One of the advantages is that we can provide results faster compared to the average because the testing is done domestically.

Question 24

228種類の劣性遺伝子検査の結果はどれくらいでわかりますか？

Accepted Answer

検査結果は、返送された検査キットが検査所に到着して、約2〜3週間後にメールでお伝えいたします。
国内で検査が行われるため、平均に比べると早く結果をお渡しできるのがメリットの1つです。

Question 25

Is it possible to undergo NIPT even if I am on heparin injections?

Accepted Answer

Use of low-molecular-weight heparin is known to alter DNA in the serum, resulting in a high frequency of errors when using heparin injections.
The estimated half-life of heparin is 4~6 hours, so it is advisable to stop using heparin for more than 48 hours ( at least 12 hours) before blood is drawn for NIPT if possible, or before starting to use it.

Question 26

I am taking Heparin, can I still do the NIPT test?

Accepted Answer

If you are using medication containing heparin, it may affect the test.

We request a temporary suspension of the use of this medication 12 hours prior to the blood draw required for the test.
Always consult your doctor and, with his or her advice, you may decide to stop using the heparin medication temporarily.

This Hospital/clinic accepts no responsibility for any incident that may occur as a result of discontinuing the use of this medication whether at the discretion of the attending physician or at your own discretion.

Use may be resumed immediately after the blood sample has been collected.

In the event that you have used heparin within 12 hours prior to blood collection, please call the toll-free number below to change the date or time of your visit.
*If you are taking any medications other than heparin, please be sure to inform us on the day of the test.

Question 27

Prior to taking the test

Accepted Answer

Question 28

Can the test plan be decided the same as the testing day?

Accepted Answer

The test plan can be changed on the same day.
Please consult with the doctor regarding which plan is best for you.

Question 29

I heard that twins cannot be tested.

Accepted Answer

Hiro Clinic NIPT can also test for twins.

Question 30

I have been diagnosed with vanishing twins, can I do the NIPT test?

Accepted Answer

The test can be performed starting at 10 weeks of pregnancy.
 However, false positives, false negatives, and gender inconsistencies are more likely to occur than usual.

Question 31

Is there anything I need to prepare for the testing?

Accepted Answer

You will need to prepare a mother-child handbook with the number of weeks and an ultrasound photograph.

Question 32

食事は何時間前までに済ませればよいのでしょうか？

Accepted Answer

食事制限は特に必要ありません。普段のお食事を済ませてお越しください。

Question 33

I have severe morning sickness and often struggle, will it affect the collection of blood?

Accepted Answer

Blood collection will not be affected.

Question 34

Are there any dietary restrictions on the day of the test?

Accepted Answer

There is none.

Question 35

How and when should I contact you for cancellation?

Accepted Answer

It is possible even on the same day.
Please contact us by phone or through the contact form on the site.

Question 36

My morning sickness is so bad that I can&#8217;t seem to make it to the clinic on the day of the appointment.

Accepted Answer

If you have difficulty coming to the clinic due to illness or other reasons, make sure to call us.
Please note that a cancellation fee will be charged for same-day no-shows.

Question 37

Can triploids be detected?

Accepted Answer

It is not detectable by the Veriseq NIPT V2 system at the Second Tokyo Clinical Laboratory.

Triploids and tetraploids are explained in the NIPT Columns.
(2) Triploid and Tetraploid
Normal somatic cells are diploid (2n). Triploidy and tetraploidy are seen during fetal life. In triploidy, the number of chromosomes (3n) makes it impossible for the child to live long with 69 chromosomes, but it is possible for the child to be born alive.
Triploidy is most often the result of two-sperm fertilization, and triploidy can also occur when diploid oocytes or spermatozoa are formed. Triploidy from the father results in an abnormal placenta.
In addition, triploidy from the mother results in spontaneous abortion in early pregnancy. Tetraploidy results in 92 chromosomes due to the number of chromosomes (4n). When this division occurs in the sex chromosomes, there are no sex chromosomes, XXXY or XYYY.

Question 38

About the Testing

Accepted Answer

Question 39

What does 7 million bases mean?

Accepted Answer

7 million bases is the size of the gene that serves as a standard for discriminating whole autosomal whole region partial deletion/duplication diseases.

In Hiro Clinic NIPT, an abnormality in which a part of a chromosome is duplicated or missing is detected based on 7 million bases as a whole autosomal whole region partial deletion or duplication disease.
It is not an abnormality in the number of chromosomes like monosomy or trisomy.

Question 40

Is there a possibility that partial deletions or duplications will be detected in us as well?

Accepted Answer

The possibilities are not zero.
Anything smaller than 7 million bases is likely to be detected.

Question 41

What is the sensitivity of the test accuracy?

Accepted Answer

Sensitivity is one of the criteria for measuring the accuracy of a test.

In NIPT, Sensitivity is the probability that the test is positive among those who had a positive result after delivery. The higher this number is, the higher the accuracy.

Question 42

What is the specificity of test accuracy?

Accepted Answer

Specificity is one of the criteria used to measure the accuracy of a test.

Specificity is the probability of a negative test result among those who tested negative after delivery. The higher this number is, the higher the accuracy.
Both sensitivity and specificity are values that indicate the accuracy of a test and are characteristic values of the test.
This value is determined by the testing system. Therefore, it is not measured by Hiro Clinic, but by Illumina, the company that developed the system.

Question 43

Is partial deletion uncommon?

Accepted Answer

In NIPT studies around the world, it is known that genetic disorders have ethnic and regional origins.
However, despite the availability of various research data, mainly from Europe and the U.S. but also from Asia, there have been no reports of genetic disease data limited to pregnant women in Japan.
This is also the first data reported for all autosomal whole region partial deletions and duplications diseases.

In Hiro Clinic NIPT, about 1 in 300 of the positive patients tested positive for all autosomal whole region partial deletion diseases.
This calculation is based on data from more than 62,000 pregnant women examined by our clinic.

Question 44

What is Exon Region?

Accepted Answer

There are two alternating regions in a gene: the exon region, which carries genetic information, and the intron region, which does not.
Inborn information inherited from parent to child is mainly contained in the exon region.



Intron
Exon
(with genetic information)
Intron
Exon
(with genetic information)
Intron
Exon
(with genetic information)
Intron

Question 45

Is it possible that a partial deletion or partial duplication does not cause disability to the baby?

Accepted Answer

Depending on the chromosome site, some parts of the chromosome may not have any genes present. However, it is unlikely that there are no exon regions at all within 7 million bases. Exon regions are usually present in about 2% of the chromosomes.

Question 46

Is it possible to die immediately from an all autosomal whole region partial deletion/duplication disease?

Accepted Answer

It is thought to depend on the amount of genes.
We believe that with a duplication of approximately 7 million bases, the number of cases of fetal death is low.
On a side note, there are 48.12 million bases of chromosome 21 involved in Down's syndrome.
It is considered that the severity of symptoms is generally more severe for deletions than for duplications, and depends on the amount of increase or decrease in the base changed.

Question 47

What specific disorders will occur?

Accepted Answer

The type of disability is determined by the site and extent of the disorder.
We provide the extent of the disorder area in the results report so that we can find out as much as we can about it.
However, we can only speculate from what has been so far reported.

When counseling a patient who is positive, we will examine the type of gene present at the site of the disorder and previous cases in advance, and speculate on possible symptoms.

Question 48

Can an all autosomal whole region partial deletion/duplication keep a child alive?

Accepted Answer

Although there are varying degrees of success, many cases of survival have been reported, so it is considered possible.

It is said to be related to changes in the amount of genes and the extent of the disorder.
The increase or decrease will occur in one part of the chromosome rather than the entire chromosome. It is possible that the symptoms may be milder than in a normal trisomy.

Question 49

What symptoms can you recognize when a partial deletion or duplication is diagnosed?

Accepted Answer

As far as we have been able to determine, 54 named diseases or syndromes have been reported worldwide, ranging from chromosomes 1 to 22.
Symptoms range from relatively mild to severe.
Chromosomes from chromosome 1 to 22 vary in size from 250 million bases for the most common to 48 million bases for the least common, and the number of genes varies from 2,610 for the most common to 337 for the least common.

There are also unnamed diseases that are not included in the 54 types, and it is reasonable to assume that there are still others that have not been discovered.

Question 50

You say there are 49 different cases with partial deletions and duplications, but are there any other cases?

Accepted Answer

There are also unnamed cases reported in NIPT studies around the world that are not included in the 49 type of cases published on the Hiro Clinic NIPT website.

The Second Tokyo Clinical Laboratory, which is the testing our laboratory, uses testing equipment that measures all autosomal regions, so it is possible to detect all autosomal partial deletion diseases.
However, there are still some diseases and cases that cannot be detected even with the testing equipment of Second Tokyo Clinical Laboratory. It is important to be aware that these cases are not small in number.

Question 51

What can we do if we test positive for a whole autosomal partial deletion?

Accepted Answer

First, you should do an amniotic fluid test and then perform a microarray test. The usual G-band (G staining method) may not be able to detect the disease.

Question 52

How long does it take to complete the test?

Accepted Answer

It takes about one hour from orientation to consultation, including blood collection.

Question 53

How many weeks into the pregnancy can I take the test?

Accepted Answer

The earlier the better, taking into account amniotic fluid testing and other factors. There is no limit to the number of weeks before the test.

However, in rare cases, blood samples may need to be re-collected due to insufficient DNA. If you are really worried about it, you can take the test from the 11th week.

Question 54

Why do many medical facilities require that you be over 35 years of age to be tested?

Accepted Answer

This is due to recommendations in Japan by the Japanese Society of Obstetrics and Gynecology.
In general, it is scientifically accepted that it is better for older pregnant women to take this test. This is because even if the sensitivity and specificity are close to 99%, the positive predictive value of the test is lower in cases with a low incidence.

If a test has a sensitivity of 96.5% and a specificity of 99%, but the incidence of disease is 0.1%, only one in two people will get the test correct, even if the test is positive. The positive predictive rate drops even further when the disease incidence rate is even lower, and the Society does not like the idea of NIPT testing for everyone because of the anxiety-provoking consequences (positive NIPT results).

However, the above discussion is probabilistic and statistical. Hiro Clinic NIPT allows testing without age limit for those who wish to be tested.
 At Hiro Clinic NIPT, we believe that it is acceptable to leave it up to the patient's decision as to whether or not to test.

Question 55

Are there any positive cases among people under 35 years of age?

Accepted Answer

There are some positive cases among those under 35 years of age.

Question 56

I&#8217;m on my 26th week, can I still get tested? Until when can I have an abortion?

Accepted Answer

At Hiro Clinic NIPT, you can take the test as long as the baby is still in your womb.
It is not a definitive test, as only blood samples are taken.

Hiro Clinic NIPT cannot provide answers about abortion, but abortion procedures are considered to be performed up to 21 weeks and 6 days.

Question 57

Does the basic test include gender identification? Is there an additional fee?

Accepted Answer

The basic test Basic Plan A includes gender identification and is included in the test results. No additional fee is required.
Please be aware that this will be indicated on the test result report. The Basic Plan O does not include gender identification.

Test Plan List


 
 
 
 
 
 
 



 
Chromosome 
21, 18, & 13 
Aneuploidy
Sex chromosomes 
Aneuploidy
Autosomal 
Aneuploidy
Partial deletion or duplication of Chromosomes 
1～5, 7, 8, 10, 15, 18, 20～22
All autosomal whole region partial deletions and duplications




Basic Plan 
(F) 
○
○
○
○
○


Basic Plan 
(R) 
○
○
○
○
×


Basic Plan 
(G) 
○
○
x
○
×


Basic Plan 
(B) 
○
○
○
×
×


Basic Plan 
(A) 
○
○
×
×
×


Basic Plan 
(O) 
○
x
×
×
×




※Trisomy and monosomy are included in aneuploidy
※Twins can be tested. Prices vary for testing with twins. Please see the Test Plans page for more details.

Question 58

Why are there so many trisomies on chromosomes 21, 18, and 13?

Accepted Answer

The autosomes (chromosomes 1~22) are numbered in order of chromosome length. However, the number of genes on each chromosome is lower for 21, 18, and 13, in that order. This is why these three types of trisomies are thought to occur more frequently.

Question 59

Is NIPT not a definitive test?

Accepted Answer

The NIPT used at Hiro Clinic NIPT is highly accurate, but it is not definitive. 
It is a screening test (not definitive).

Question 60

Should NIPT basically be regarded as a screening test?

Accepted Answer

We believe so. Basically, testing is done based on the percentage of risk from the test and the information obtained from the test.

The NIPT test is an absolutely low-risk test, requiring only a blood sample from the mother. We believe that the information obtained from this test will provide important information for childbirth.
Both sensitivity and specificity are close to 99%, and we believe that this test is sufficient as a screening test.

Question 61

Are there any disadvantages when you changed from Verinata to Second Tokyo Clinical Laboratory?

Accepted Answer

There are no disadvantages.
The elimination of overseas transportation of specimens has made it possible to obtain results in a shorter period of time.
In addition, we no longer have to deal with the possibility of specimens being damaged during overseas transportation.

Question 62

How much blood is collected?

Accepted Answer

10 ml.

Question 63

I was told that my NT is thick. Which test do you recommend I undergo?

Accepted Answer

The relatively common diseases with thick NT are trisomy 21, 18, and 13. We recommend the our Basic Plan O or greater.
A thick NT does not immediately mean that there is an abnormality. 
There are many cases where it is normal. We recommend that you start with a non-invasive test such as NIPT.

Question 64

Can I have a medical consultation?

Accepted Answer

Yes, a consultation with a doctor is available on the day of the NIPT test and is included in the cost of the test.

If you wish to see a doctor on a different day, you will be charged an additional consultation fee.
(20 minutes: ¥4,000 (¥4,400 incl. tax))

If you wish for a consultation, please make a request through My Page at least 2 days prior to the consultation.
If you wish to see a doctor the day before or on the same day, please call us. Depending on the schedule of the doctor in charge, we will accept your appointment if possible.

Call us for an appointment request for the day before or on the day of your visit.
0120-169-629

Available for appointments: 10:00 - 18:00
※Calls can be made only within Japan

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