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.

NIPT(新型出生前診断)の現状と母たちの決断【医師監修】

2022.12.29
Useful Pregnancy Articles
おすすめ
NIPT (New Non-invasive Prenatal Testing)
不安

NIPT（新型出生前診断）とは
NIPT（新型出生前診断）の対象となる人
NIPT（新型出生前診断）に年齢制限はある？
NIPT（新型出生前診断）の認定施設と非認定施設はどう違うの？
- 認定施設とは
- 非認定施設とは
NIPT（新型出生前診断）で知的障害がわかる？
NIPT（新型出生前診断）で発達障害がわかる？
NIPT（新型出生前診断）で自閉症がわかる？
NIPT（新型出生前診断）でわかること・わからないこと
- NIPT（新型出生前診断）でわかること
- NIPT（新型出生前診断）でわからないこと
NIPT（新型出生前診断）を受けた人の中絶率は？
NIPT（新型出生前診断）と母たちの実情
まとめ

NIPT(新型出生前診断)とは

NIPT(新型出生前診断)とは、胎児の発育や状態を調べるための検査です。従来の検査と比べ、

母体への負担を軽減した検査が行える
結果の信頼性と信憑性が従来と比べて高い

という特徴があります。

World-class NIPT

...

NIPT(新型出生前診断)の対象となる人

NIPT(新型出生前診断)を受けるには、

妊娠10週以降
1人から2人（双子）を妊娠中の人

は、上の2つの条件を満たす必要があります。

反対に、

トリソミー患者の人
がん患者の人
過去1年間で輸血をした人
幹細胞治療、免疫療法、臓器移植を受けた人
異数性が見られる人

はNIPT(新型出生前診断)を受けることができません。

NIPT(新型出生前診断)に年齢制限はある？

以前まで、認定施設ではNIPT(新型出生前診断)の対象者は「出産予定日時点で35歳以上」と定めていました。しかし、2022年2月18日に日本医学会より公布された指針により、この年齢制限は撤廃されました。現在では年齢に関わらず、ご自身の希望で受検を検討することができます。

NIPT(新型出生前診断)の認定施設と非認定施設はどう違うの？

NIPT(新型出生前診断)は、産婦人科病院・クリニックなどの医療機関で受けられますが、認定施設か非認定施設かは医療機関によって違いがあり、条件や検査項目が変わります。

認定施設とは

日本医学会と日本産科婦人科学会が出した指針に従い、認定を受けている医療機関のことです。

認定を受けるためには、

診断について専門的な知識を持つ臨床遺伝専門医、認定遺伝カウンセラーが複数名所属している。専門外来を持ち、診療に携わっている
専門外来にて一定の時間（30分以上）のカウンセリングを行う。そのうえで検査説明も行える
検査を受けた後、妊娠や胎児の発育についてフォローアップを行える
絨毛検査や羊水検査などに精通しており、高い安全性を持って検査を進められる
小児科の臨床遺伝専門医と連携を取り、遺伝カウンセリングを行える
臨床遺伝専門医と認定遺伝カウンセラーは検査についての研修を受けており、検査法に対する十分な知識量があり、結果の説明やカウンセリングに十分に対応できる

以上6つの条件を満たしている必要があります。

非認定施設とは

日本医学会と日本産科婦人科学会による認定を受けていない施設のことです。違法というカテゴリーには入らないため、問題なくNIPT(新型出生前診断)を受けられます。

非認定施設では、21トリソミーや18トリソミー、13トリソミーに加え、染色体の数的異常や構造上の異常、性別なども調べられ、医師からの予約や紹介を待つ必要もありません。

ただし、非認定施設では遺伝カウンセリングを行わないところもあり、仮に陽性反応が出てもアフターフォローが得られないケースもあります。

NIPT认证设施与非认证设施的优点·缺点【医生监督】

NIPT（新型产前诊断）的设施分为认证设施和非认证设施2种类型。两者都是医疗机构，都是在医生的监督下进行，但各有优缺点。选择最适合您的设施并接受满意的检查很重要。...

NIPT(新型出生前診断)で知的障害がわかる？

NIPT(新型出生前診断)では、21トリソミー、18トリソミー、13トリソミーを確認でき、知的障害の有無がわかります。

21トリソミーとは、知的障害の代表例として分類される『ダウン症』のことです。「平均的なIQは50以下」「特別支援学校または支援学級での教育が必要となる」などの特徴や条件が見られるほどの、知的障害が目立つようになります。

一方、18トリソミーでは知的障害や発育障害のリスクが高くなり、13トリソミーでは重度の知的障害になりやすいとされています。

NIPT（新型出生前診断）で発達障害がわかる？

NIPT(新型出生前診断)を通じた発達障害の確認は、現状では難しいとされています。

注意欠陥・多動性障害、学習障害をはじめとする発達障害は、根本的な原因がまだ解明されていません。そのため、仮にNIPT(新型出生前診断)を受けても発達障害の有無は確認できないと考えられています。

NIPT（新型出生前診断）で自閉症がわかる？

発達障害と同じく、自閉症もNIPT(新型出生前診断)による判断は不可能です。

自閉症とは発達障害の一つであり、正式には『自閉症スペクトラム』と呼ばれています。高機能自閉症とアスペルガー症候群も自閉症スペクトラムのタイプとして含まれていますが、NIPT(新型出生前診断)での確認はできません。

NIPT（新型出生前診断）でわかること・わからないこと

以上の特徴を踏まえると、NIPT(新型出生前診断)で、わかること・わからないことでは次のような分類ができます。

NIPT(新型出生前診断)でわかること

21トリソミー(ダウン症候群)
18トリソミー(エドワーズ症候群)
13トリソミー(パトウ症候群)
22対すべてにおける常染色体(非認定施設で検査可能)
1対の性染色体(非認定施設で検査可能)
染色体の構造的な異常の有無(非認定施設で検査可能)
性別(非認定施設で検査可能)

NIPT(新型出生前診断)でわからないこと

発達障害
自閉症
視覚障害、聴覚障害
単一遺伝子疾患(1つの遺伝子によって病気を発症するリスク)
他因子遺伝疾患(病気の原因が遺伝性のものか、はっきり確認できない状態)
環境、催奇形因子による障害(化学物質、喫煙、薬など、外的要因によって起こる胎児の奇形)

Diseases that can be detected by NIPT

Hiro Clinic's NIPT can test for chromosomal structural abnormalities such as whole-autosomal partial deletion disea...

NIPT（新型出生前診断)を受けた人の中絶率は？

NIPTコンソーシアムの調査によると、2013年から2018年のNIPT(新型出生前診断)において、

782例の21トリソミーに対し、643例の中絶
396例の18トリソミーに対し、208例の中絶
120例の13トリソミーに対し、47例の中絶

が報告されました。この統計は、NIPTを受けて陽性が判明し、その後の羊水検査をはじめとする確認で確定検査を受けた後の数字です。

この数字から、21トリソミーでは約87%、18トリソミーでは約60%、13トリソミーでは約68%など、中絶率の高さが見られます。

NIPT(新型出生前診断)の現状と母たちの決断【医師監修】

...

NIPT（新型出生前診断)と母たちの実情

NIPT(新型出生前診断)にはさまざまな意見がありますが、出産か中絶かのどちらかを決断するにしても、母親に精神的・肉体的な負担がかかり、ひいては今後の人生が大きく左右されることには変わりません。

そのため、母親には行政や医療機関からの十分なケアが必要になります。

そのなかの一つが、遺伝カウンセリングです。遺伝カウンセリングでは、遺伝カウンセラーのもとで、NIPT(新型出生前診断)についての知識を深めたり、胎児の状態について相談したりなどのサポートを受けられます。先天性異常で陽性が見られた場合には、出産か中絶かの選択を共に相談でき、出産する場合にはその後の育て方などのアドバイスを得ることも可能です。

「生まれてくる子供が問題なく、健康的に育って欲しい」とは、多くの母親が願うことです。だからこそ、胎児に異常や病気が見られると、孤独で重い責任が伴う決断を迫られてしまいます。そこで、十分な知識で不安を解消できる遺伝カウンセラーのサポートがあることで、母親たちの負担は軽減されていくでしょう。

まとめ

今回の記事では、NIPT(新型出生前診断)の概要や対象となる人、検査によってわかること・わからないこと、実情について解説しました。

NIPT(新型出生前診断)の結果を受けてどのような決断をするかは、胎児について配慮すると決断が難しい側面があります。しかし、出産か中絶かどちらの選択をするにしても、母親の肉体的・精神的な負担と今後の人生にも十分な配慮がなされる必要もあります。

そのような現実を踏まえ、パートナーや検査を行う施設、遺伝カウンセラーなどの外部からの協力が、さらに求められていくでしょう。

World-class NIPT

...

Article Editorial Supervisor

Dr. Toshiaki Kawano

Head Doctor of Hiro Clinic NIPT Hakata

Board Certified Obstetrician and Gynecologist,
Japan Society of Obstetrics and Gynecology

As an obstetrician and gynecologist for more than 25 years, he has dealt with pregnant women and childbirth mainly in Kyushu. As the head doctor of Hiro Clinic NIPT Hakata, he is working daily to raise awareness of NIPT (New Non-invasive Prenatal Testing) to make it a more commonly performed test.

Brief History

1995 – Graduated from Kyushu University Faculty of Medicine
1995 – Kyushu Kosei-Nenkin Hospital, Department of Obstetrics and Gynecology
1996 – Obstetrics and Gynecology, Kyushu University Hospital
1996 – Sasebo Kyosai Hospital, Obstetrics and Gynecology
1997 – Department of Obstetrics and Gynecology, Arumeida Hospital, Oita City County Medical Association
1998 – Deputy Chief of Obstetrics and Gynecology, Miyazaki Prefectural Miyazaki Hospital
2003 – Medical Director, Department of Obstetrics and Gynecology, Jikei Hospital
2007 – Deputy Director, Department of Medical Care, Japanese Red Cross Kumamoto Health Care Center
2018 – Department of Gynecology, Sakura Juji Fukuoka Hospital
2020 – Head Doctor, Hiro Clinic NIPT Hakata

Qualifications

Board Certified Obstetrician and Gynecologist, Japan Society of Obstetrics and Gynecology
Certified Mammography Reading Doctor
Certified Sports Physician by the Japan Sports Association
Certified Clinical Training Advisor, Ministry of Health, Labour and Welfare
Board Certified Specialist, Japanese Society of Anti-Aging Medicine

Types of Chromosomal Aberrations前へ

性別判定ができるNIPT(新型出生前診断)とは？精度はどのくらいなのか解説します【医師監修】次へ