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

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

At which clinics is the NIPT test available?

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.

How long does a consultation take?

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.

Can I go alone when I go for an appointment?

Yes, expectant mothers may come alone.

Is this test covered by medical insurance?

This test is not covered by medical insurance.

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

No referral letter is required.

Can I claim a deduction for medical expenses?

Medical Expense Deduction is not applicable.

Where is the Testing Laboratory?

Second Tokyo Clinical Laboratory

Do you offer remote medical services?

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.

How are the specimens sent?

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.

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

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'.

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

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.

N-Advanceプランの結果はどのくらいでわかりますか？

N-Advanceプランは一部国内検査となりましたので、検査結果のご報告までに最短3～10日(一部プランを除く)となります。

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

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.

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

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.

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

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

I heard that twins cannot be tested.

Hiro Clinic NIPT can also test for twins.

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

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.

Is there anything I need to prepare for the testing?

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

食事は何時間前までに済ませればよいのでしょうか？

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。

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

Blood collection will not be affected.

How and when should I contact you for cancellation?

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

My morning sickness is so bad that I can’t seem to make it to the clinic on the day of the appointment.

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.

Can triploids be detected?

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.

What does 7 million bases mean?

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.

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

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

What is the sensitivity of the test accuracy?

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.

What is the specificity of test accuracy?

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.

Is partial deletion uncommon?

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 50,000 pregnant women examined by our clinic.

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

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

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.

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

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.

What specific disorders will occur?

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.

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

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.

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

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.

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

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.

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

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.

How long does it take to complete the test?

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

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

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.

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

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.

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

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

I’m on my 26th week, can I still get tested? Until when can I have an abortion?

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.

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

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.

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

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.

Is NIPT not a definitive test?

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

Should NIPT basically be regarded as a screening test?

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.

Dr. Tomoko Takemitsu

東京駅前院

▶ Attending on: Mondays

Brief History

2000 - Graduated from Kitasato University

2008 - Graduated from Keio University Graduate School

May 2000~March 2002 - Resident, General Surgery, Kitasato University Hospital

Apr 2002~March 2004 - Resident, Internal Medicine, Keio University Hospital

Apr 2004~March 2008 - Graduate School of Nephrology, Keio University

Jun 2008~Dec 2020 - Director, Yoyogi CC Clinic

January 2021- Head Doctor, Yoyogi Station Clinic

Qualifications

Board Certified Internist

Nephrologist

Dialysis Specialist

Anti-Aging Society Specialist

CLINIC Information

お近くの医療機関で新型出生前診断が可能です

全国６７院連携クリニック

Our Clinics

Dr. Tomoko Takemitsu

Brief History

Qualifications

業務提携先およびその関連会社