How we can help you have a childbirth with peace of mind
While some expectant mothers are hopeful for their unborn baby, others may have concerns.
In order to eliminate such worries, knowing the health of the foetus in advance through a prenatal check-up can make it easier to prepare for the arrival of the newborn baby.
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Why should Hiro Clinic be chosen?
Hiro Clinic NIPT offers NIPT, which is safe for both mother and foetus. By requesting testing from the Tokyo Sanitary Laboratory, a specialised domestic institute for human genetic testing, the results can be known more quickly and accurately than with conventional NIPT, which was performed by a specialised overseas institute.
Results are delivered within 8 days of blood collection for 95% of patients (※Excluding some plans). The express delivery option is available at all Hiro Clinic NIPT clinics, except for collaborating facilities (when express delivery is used, results are delivered in as little as two days after blood collection).
The VeriSeqNIPT Solution V2 system introduced at the Tokyo Health Laboratory is widely used for diagnosis in Europe and the USA, and was first introduced in Japan by Hiro Clinic NIPT. As of February 2023, more than 29,000 tests had been carried out in Japan and more than 56,000 cases had been carried out outside Japan. The clinic has accumulated a large number of cases and shares the results of analysis with the Tokyo Sanitary Laboratory to improve testing.
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The one-dimensional barcode issued by Hiro Clinic is seamlessly read into the Tokyo Sanitation Laboratory’s testing equipment (Hamilton MicroLabstar), so there is virtually no risk of misreading.
Hiro Clinic NIPT is the only clinic in Japan that can test for chromosomes other than chromosome 21, 18 and 13 trisomy and is proud to be the only clinic that has tested a large number of cases.
Hiro Clinic NIPT offers NIPT testing at a total of 10 clinics from Sapporo to Fukuoka. Each clinic is staffed by specialists in obstetrics and gynaecology, clinical genetics, paediatrics and psychiatry. Each clinic is connected to the other through a network, which enables the specialists to answer various questions from pregnant women in a coordinated manner.
In addition to the existing NIPT test, a business partnership has been established with NIPD genetics in Cyprus, which allows for the detection of microdeletion syndromes and 228 single gene diseases. Currently, it takes time for the results to be delivered to Cyprus, but from April 2023, the tests will be available at the Tokyo Sanitary Laboratory. As there are no other places in Japan where microdeletion syndrome detection is done, Hiro Clinic will be a pioneer in this field.
After the actual birth, paediatricians, rather than obstetricians, often deal with this issue, so their opinions can provide a wider range of knowledge.
Obstetrician and gynecologist
Paediatrician
Another important feature of the amniotic fluid testing support is that even if the test result is positive, the amniotic fluid test can be subsidised for up to JPY 200,000. Even if the amniotic fluid test is carried out at a medical institution other than Hiro Clinic, amniotic fluid test support is still covered. In many cases, the amniotic fluid test support can cover the entire cost of the test, which means that even if the test is positive, the subsequent costs are reduced. We have introduced amniotic fluid testing support because we want more patients to have a definitive test.
One of Hiro Clinic NIPT’s strengths is that sex chromosome and total autosomal aneuploidy testing is available at affordable prices. Pregnant women over 35 years of age are recommended to undergo sex chromosome and total chromosome aneuploidy testing, as these abnormalities are thought to be caused by older mothers and spouses.
Hiro Clinic NIPT offers a variety of test packages so that pregnant women and their families can be informed of the test results in an easy-to-understand manner. If you are not sure which test you want to know about, please contact us. If you are not sure, please ask your Hiro Clinic NIPT doctor directly. We will give you a detailed answer. We will tell you clearly what our tests can and cannot do.
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Over 56,000 NIPT cases for pregnant women in Japan
In NIPT studies around the world, genetic disorders are known to have ethnic and regional characteristics.
However, despite various research data, mainly from Europe and the USA but also including Asia, no data on genetic disorders limited to pregnant women in Japan have been reported so far.
Hiro Clinic NIPT analyses data from over 56,000※ patients who have undergone NIPT in cooperation with the Tokyo Sanitary Laboratory.（※As of November 2023）
Based on these data, we then propose test items that are truly necessary for pregnant women in Japan. Hiro Clinic NIPT believes that analysing and reporting as much data as possible with the current technology protects the ‘right to know’ of pregnant women.
Express delivery delivers results in as little as two days
In Hiro Clinic NIPT, results are usually delivered within 8 days of blood collection for 95% of patients（※Excluding some plans）.
Please note that the express delivery option is available at all Hiro Clinic NIPT clinics, except for the collaborating facilities(delivery is made as soon as the next day after the blood collection).
Inspections can be carried out throughout Japan
In addition to testing at 10 Hiro Clinic directly-operated clinics from Hokkaido to Hakata, NIPT at Hiro Clinic is now available at 115 collaborating clinics nationwide.
‘Positive score’ analysed from data on 56,000 pregnant women in Japan
If you get a positive result, you will know how positive it really is. Based on the numerical analysis of over 56,000 NIPT results and amniotic fluid test results performed by Hiro Clinic NIPT to date, we offer a free postive score report, which provides you with a combination of ‘positive score’ and ‘positive predictive value’.
Twins can also be tested
Certified medical centres do not accept NIPT testing of twins.However, at Hiro Clinic NIPT, it is possible to examine all chromosomes for heteroscedasticity and all autosomal partial deletions and duplications, even in twins. However, only the presence or absence of the Y chromosome can be tested for sex chromosomes at present.
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Consultations are available with specialists from the Japanese Society of Obstetrics and Gynaecology
At Hiro Clinic NIPT, Omiya Ekimae Clinic, Nagoya Ekimae Clinic and Osaka Ekimae Clinic are staffed by specialists from the Japanese Society of Obstetrics and Gynaecology.
They have experience as specialists, so you can ask them any questions you have about childbirth. Even if it’s just a casual question, we’ll be happy to help.
You can also ask questions online at any Hiro Clinic NIPT clinics other than the Omiya Ekimae Clinic, Nagoya Ekimae Clinic, and Osaka Ekimae clinic.
Report on monosomy as well as trisomy
Hiro Clinic NIPT not only reports trisomies (three chromosomes) on chromosomes 21, 18, 13 and all chromosomes, but also monosomies (one chromosome) as an abnormality. Monosomy is a rare condition, but it can happen. This is because most conditions have a frequency of one person in tens of thousands.
Full chromosome scan
While regular NIPT checks for 21, 18 and 13 trisomy, the all-chromosome test for abnormalities in chromosomes 1 to 22 and the number of sex chromosomes.
Whole autosomal whole-region partial deletion/duplication disease
Some non-certified medical facilities can test for five microdeletion syndromes (1p36 deletion syndrome, Wolf-Hirschhorn syndrome, Nekonaki syndrome, Prader-Willi syndrome, Angelman syndrome and DiGeorge syndrome), but Hiro Clinic NIPT is the only facility that can check for partial deletions and duplications of all autosomal whole-region chromosomes in 54 different diseases, including ‘all autosomal whole-region partial duplication diseases’. However, the minimum size that can be detected is 7 million bases. Deletions and duplications smaller than this are undetectable, so it is not possible to detect all whole-autosomal partial deletions. If there is a partial deletion in a location reported as a total autosomal whole region partial deletion disease, the test report is generated as that total autosomal whole region partial deletion disease.
Microdeletion syndrome
4 microdeletion syndromes (1p36 deletion syndrome, Wolf-Hirschhorn syndrome, Smith-Magenis syndrome and DiGeorge syndrome) can now be examined.
Ultrasound examinations can be performed in the presence of a Japanese Society of Obstetrics and Gynaecology specialist
At Omiya Ekimae Clinic, Nagoya Ekimae Clinic and Osaka Ekimae Clinic, foetal ultrasound scan can be performed before the NIPT examination. Having a thorough knowledge of the foetus’ condition before undergoing the NIPT examination will lead to peace of mind.
Doctor-edited columns and a social networking site where clinic information can be found
Useful information for pregnant women’s lives is available from the column page.
What to do from conception to delivery? Questions about pregnancy, amniotic fluid testing, NIPT, etc. The information is written in an easy-to-understand format under the supervision of a doctor, so please read on.
Each clinic also provides information on social networking services. You can find out what your local clinic is like.
We have prepared links to social networking sites from the clinic information page! Please follow and like us on social networking sites.
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Differences between certified and non-certified facilities for NIPT
There are certified and non-certified facilities where NIPT testing is available.
What is a certified facility?
Certified facilities are NIPT testing facilities that have been accredited by the Japanese Federation of Medical Societies.
The existence of a facility means that there are also conditions for patients undergoing NIPT testing.
- Fetal ultrasound shows a positive test for chromosomal abnormalities in the foetus
- Maternal serum marker test positive for chromosomal abnormalities in the foetus
- If the mother has previously given birth to a child with a chromosomal abnormality
- If both parents have an equilibrium Robertson translocation and there is a possibility of a chromosomal abnormality due to inheritance
In addition to these conditions, there are other hurdles such as having to be over 35 years of age and needing a referral letter from an obstetrician/gynaecologist, which the Society of Obstetrics and Gynaecology has now abolished itself for those over 35.
The name has now been changed from ‘accredited facilities’ to ‘certified facilities’. This is after it became managed by the Japan Medical Association under the Ministry of Health, Labour and Welfare.
What is a non-certified facility?
Non-certified facilities are those that are not accredited by the Japanese Federation of Medical Societies. The fact that a facility is not accredited does not mean that it is illegal.
As there is no need to be concerned about the conditions presented by the Japanese Federation of Medical Societies, any pregnant woman can undergo a NIPT test.
Some medical institutions have well-equipped testing facilities, while others offer testing at specialised institutions outside Japan.
Advantages/disadvantages of non-certified facility
The main advantage of non-certified facilities is that there are no requirements to undergo testing.
Of course, another major advantage is that there are no age restrictions and no need for a doctor’s referral.
Another advantage of non-certified facilities is that you can choose what can be tested and the costs are lower.
So what are the disadvantages?
As amniocentesis is not available, you may have to make your own appointment at a clinic where amniocentesis is available.
However, Hiro Clinic can refer you to a doctor who can perform an amniocentesis. Of course, amniocentesis support is also available.
| Hiro Clinic | Certified | Non-certified | |
|---|---|---|---|
| Doctor-in-charge | Obstetrician-gynaecologist, paediatrician, clinical geneticist, etc. | Obstetrician-gynecologist | Varcious |
| Inspection items | Monosomy, trisomy, microdeletion syndrome, partial deletion syndrome, 228 autosomal recessive genetic disorders. | 13,18,21 trisomy only | Trisomy, monosomy microdeletion syndrome, partial deletion syndrome |
| Total chromosome aneuploidy | Available | Unavailable | Available |
| Sex chromosome test | Available | Unavilable | Available |
| Partial deletion-partial duplication | Available | Unavailable | Basically unavailable |
| Microdeletion syndrome | Available | Unavailable | Available |
| Twins test | Available | Unavailable | Available |
| Positive score※1 | Yes | None | None |
| FF※2 | Yes | None | Depends on the facility |
| Inspection available period | Once the fetal heartbeat is confirmed by echo | From 10 weeks’ gestation | 6-10 weeks’ gestation |
| Vanishing twin | 〇 | × | △ |
| Fees | JPY 58,800 to JPY 400,000 | JPY 130,000 to JPY 300,000 | JPY 50,000 to JPY 400,000 |
| Age limits※3 | None | Basically none | None |
| Inspection company | Domestic inspection (Group company: Tokyo Hygienic Laboratory) | Foreign or national certification bodies | Overseas, however, many places are not open to the public |
| Inspection days | Basically within 8 days (minimum next day when express delivery is used) | 2 weeks | 6 days to 3 weeks |
| Express delivery | Yes | None | None |
| Amniocentesis | Referral from Hiro Clinic | Specified location | No specified location |
| Amniotic fluid test | Collaborating inspection companies | Outsourcing | None |
| Counselling | 1 time Pregnant women alone are allowed | 3 times required Married couple | 1 time Pregnant women alone are allowed |
| Weekends | Open | Basically closed | Open |
※1 Service to indicate the degree of positivity when a positive chromosome 13, 18 or 21 trisomy is detected.
※2 This score is a very important indicator. It shows how much of the foetus’ DNA is contained.
※3 It is best to avoid places that do not disclose this information, because it is incorrectly stated on their websites.
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Fees for NIPT
Cost price of NIPT test
The cost of the test varies from medical institution to medical institution, but is approximately JPY 150,000-210,000.
Most facilities accredited by the Japanese Federation of Medical Societies include the cost of a definitive test in the price of NIPT(varies from medical institution to medical institution).
Cost price of tests other than NIPT
Chorionic villus and amniotic fluid tests, which involve puncturing amniotic fluid with a needle, cost between JPY 100,000 and 200,000. Some medical institutions require hospitalisation for each of these tests, which incur additional costs.
Ultrasound examinations are also carried out during antenatal check-ups and cost JPY 20,000-30,000.
The maternal blood collection marker test costs JPY 20,000-30,000, but many people opt for an echo test as it can only be performed from the 15th week.
Hiro Clinic NIPT test fees
“Basic Plan O” is an affordable plan costing JPY 109,780 (tax included) that tests for Down syndrome as well as trisomies and monosomies of chromosomes 13, 18, and 21.
“Basic Plan A” includes the tests from Basic Plan O along with tests for abnormalities in sex chromosomes, costing JPY 131,780 (tax included).
“Premium Plan AM” tests for abnormalities in chromosomes 13, 18, and 21, sex chromosome abnormalities, gender, and four types of microdeletions, costing JPY 208,780 (tax included).
“Basic Plan F” tests for all trisomies and monosomies of chromosomes 1 through 22, and abnormalities in partial deletions and duplications in all regions of chromosomes 1 through 22, costing JPY 230,780 (tax included).
Down syndrome (chromosome 21) single JPY 58,800 (JPY 64,680 incl. tax)
Hiro Clinic NIPT offers a single chromosome 21 test for those who only want to know about ‘Down syndrome’. Chromosome 18 and 13 tests are available for those who want to know only about ‘Edwards syndrome’ and ‘Patau syndrome’.
No other chromosome information can be obtained, but the cost of the chromosome test is JPY 58,800 (JPY 64,680 incl. tax), making it the cheapest NIPT available.
※However, the Japanese Society of Obstetrics and Gynaecology recommends simultaneous testing for 21, 18 and 13 trisomy.
NIPT is not a deductible medical expense
Prenatal diagnosis is not deductible as a medical expense.
This is because the medical expense deduction only applies to ‘medical treatment involving medical treatment or therapy’. This is because prenatal check-ups, which are only examinations similar to a human medical check-up or health check-up, are not recognised as an eligible medical treatment.
Medical insurance is also not covered in the same way. Please note that this can easily be mistaken.
Examples of pregnancy and maternity-related expenses that are deductible as medical expenses include
１）The costs of regular check-ups and tests after a pregnancy has been diagnosed, as well as hospital visits, are deductible as medical expenses.※1
２）If you are hospitalised for childbirth and cannot use regular transport such as trains or buses, and you take a taxi, the taxi fare is deductible as a medical expense.※2
３）Expenses for personal items such as nightclothes and toiletries purchased during hospitalisation are not deductible as medical expenses.
４）Meals paid to hospitals during hospitalisation are generally deductible as medical expenses, as they are paid as part of the hospitalisation costs.※3
※1 Many hospital expenses are not receipted, but you should be able to clearly explain the actual costs incurred, for example by recording them in a household account book.
※2 Transport costs for returning to the family home to give birth at home are not deductible as medical expenses.
※3 Items delivered from elsewhere or eaten out are not deductible.
Amniotic fluid testing support scheme
Hiro Clinic NIPT offers support for amniotic fluid testing organised by collaborating inspection institutes. The fee is JPY 3,000 (JPY 3,300 incl. tax).
By using this service, patients with a positive test result can receive a subsidy of up to JPY 200,000 ( incl. tax) for the cost of the amniotic fluid test.
This is a one-off payment and can only be paid in cash.
Amniotic fluid testing cost assistance scheme
Criteria for subsidising the cost of amniotic fluid testing are in place.
①For all autosomal and sex chromosome aneuploidy positives, G-band/qf-PCR testing is available as an aid.
②For positive whole autosomal whole-region partial deletions and duplication disease, G-band, qf-PCR, microarray and FISH tests are available to assist.
Sensitivity, specificity and risks of amniotic fluid and chorionic villus tests
| Trimester -Test |
1st- Chorionic test |
2nd- Amniotic fluid test |
|---|---|---|
| Sensitivity | 99.25%※1 | 99.4%※2 |
| Specificity | 98.65%※2 | 99.5%※2 |
Mortality from test |
1.1%※3 | 0.4%※3 |
Amniotic fluid and chorionic villus tests, which are considered definitive tests, are not 100% certain
Adapted from illumin※1. Hahnemann JM, Vejerslev LO. Accuracy of cytogenetic findings on chorionic villus sampling (CVS)—diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992. Prenat Diagn. 1997;17(9):801-820.
※2. Mid-trimester amniocentesis for prenatal diagnosis. Safety and accuracy. JAMA. 1976; 236(13): 1471-1476.
※3. Enzensberger C, Pulvermacher C, Degenhardt J, et al. Fetal loss rate and associated risk factors after amniocentesis, chorionic villus sampling and fetal blood sampling. Ultraschall Med. 2012;33(7):E75-9.
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Hiro Clinic NIPT testing policy
Hiro Clinic NIPT does not set age limits for testing.
The following is a summary of the guidelines for NIPT from the American College of Obstetricians and Gynaecologists.
Summary of Society Guidelines on NIPT
-
All women should be offered the option of aneuploidy screening,
including NIPT, or diagnostic testing regardless of age.1- 3 -
If NIPT fails to give a result, alternate testing should be discussed
with the patient because of increased risk for aneuploidy. 1-2 -
False positives and false negatives do occur. Diagnostic testing
should be offered to any patient with a positive NIPT result. 1-3
- American Colege of Obstetriciansa nd Gynecologists. Screening for fetal aneuploidy. Practice Bulletin No.1 63.O bslef Gynecot.2 016;1 27(5):e123-137.
- Benn P, Borrell A, Chiu RWK,et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of theB oardo f the lnte rnational Society for Prenatal Diagnosis. Prenat Oiagn.2 015;35(8):725-734.do i:10.1002/pd.4608.
- Gregg AR,S kotkoB G, Benkendorf JL,e t al. Noninvasive prenatat screening for fetala neuploidy,2 016u pdate: ap osition statement of the American College of MedicalGe netics and Genomics.G enet Med.2 016: doi:10.1038/gim.2016.97.
All women, regardless of age, should be given the option of screening or confirmatory testing for chromosomal abnormalities, including NIPT.
If NIPT fails to produce a result, other tests should be considered due to the high risk of chromosomal abnormalities.
Wrongly positive and wrongly negative results can occur; if NIPT is positive, all should undergo diagnostic testing.
American College of Obstetricians and Gynaecologists against NIPT
Adapted from the guidelines
The examination is completed in one visit
You will only need to visit the clinic once on the day of the test for NIPT.
If you would like to discuss the results in more detail, a doctor will explain the results to you.
Diagnosis possible without a referral
You can book an appointment not only via PC, but also via iPhone or smartphone, so please feel free to book via the web booking form, which is available 24 hours a day.
※Please bring your Maternity Handbook and ultrasound results with you.
When can NIPT be performed?
NIPT is often asked about the time limit for testing.
NIPT can be tested once the foetal heartbeat is confirmed by ultrasound. Appointments can be made as soon as the due date is known.
There is no time limit for the NIPT. However, if the test is positive and you wish to have a definitive test, Hiro Clinic NIPT recommends testing before 15 weeks, as amniotic fluid testing is done between 15 and 18 weeks.
In addition, 95% of Hiro Clinic NIPT patients receive their test results within 8 days of blood collection, and the express delivery option is available at all Hiro Clinic NIPT clinics, except for the collaborating facilities (delivery as soon as the next day after blood collection), so that you can have your test in good time.
※1 Usually within 3-6 days for some clinics and collaborating facilities
※2 Excluding some plans
Pregnant women alone or with children can come to the clinic
NIPT is possible once a foetal heartbeat is confirmed by echocardiography. Pregnant women are welcome to come alone.
It is not necessary for all parents to come to the clinic together, but it is acceptable to have a chaperone. You can also bring your children with you.
Each clinic has a lift so that you can come to the clinic with an accompanying infant in a pushchair.
※Although we have taken sufficient measures to prevent new coronas in the clinics, we have a full appointment system to prevent congestion due to the large number of people visiting the clinics at normal times. We ask for your understanding and cooperation. Due to the current coronavirus outbreak, we recommend that as few people as possible visit the clinic.
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Hiro Clinic NIPT system
Overview of NIPT testing
| Inspection title | NIPT(Non-invasive prenatal genetic testing) |
|---|---|
| Blood collection medical institutions | Hiro Clinic NIPT |
| Sample | 10 ml of blood (some plans may differ). |
| Person subject to an inspection | Pregnant women with an echocardiographically confirmed foetal heartbeat, Single or twin pregnancies |
| Age limits | None |
About the inspection institute ‘Tokyo Sanitary Inspection Laboratory’
In collaboration with Illumina, the Tokyo Health Laboratory has introduced equipment to complete testing in Japan without shipping specimens overseas.
The equipment installed is an ‘automated pipetting machine (Hamilton)’ and a ‘NextSeq 550DX (Illumina)’ next-generation DNA sequencer.
Hamilton STAR Illumina Veriseq 2.0 NIPT
The automated pipetting machine semi-automatically extracts cell-free DNA from 48 or 96 blood samples at a time and performs sequencing pre-treatment in as little as 8 hours.
The NextSeq 550DX is suitable for a wide variety of applications in NIPT testing and can read large numbers of sequences at once in a short time, typically 14 hours to calculate the analysis results.
These devices enable 95% of patients to receive their results within 8 days of blood collection（※Excluding some plans）. In addition, the express delivery option is available at all Hiro Clinic NIPT clinics, except for collaborating facilities (minimum delivery time of 2 days from blood collection), so that pregnant women can be informed of their test results even earlier.
In addition, a new score, LLR, is introduced instead of the traditional statistical score Z-score. This enables the maternal-fetal DNA ratio to be included in the calculation and more accurately determined.
Click here for inspection station facilities
NIPT test results placed in low-risk groups
| Article | No. of pregnant women | Detection rate | False positive |
|---|---|---|---|
| Nicolaides et al.[※1] | 2049 | 100% | 0.1% |
| Dan et al.[※2] | 11,105 | 100% | 0.03% |
| Bianchi et al.[※3] | 2052 | 100% | 0.3% |
| Norton et al.[※4] | 15,841 | 100% | 0.06% |
| Zhang et al.[※5] | 147,314 | 99.17% | 0.05% |
[※1]Nicolaides KH,Syngelaki A, Ashoor G, Birdir C,Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012;207:374.el-6.
[※2]Dan S, Wang W, Ren J, Li Y, Hu H,Zu Z, et al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11105 pregnancies with mixed risk factors. Prenat Diagn 2012;32:1225-32.
[※3]Bianchi DW, Lamar Parker R, Wentworth J, Madankumar R, Saffer C, Das AF, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 2014;370:799-808.
[※4]Norton ME, Jacobsson B, Swamy GK, Laurent LC, Ranzini AC, Brar H,et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015;372:1589-97.
[※5]Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, et al.Non-invasive prenatal testing for trisomies 21,18 and 13:clinical experience from 146958 pregnancies. Ultrasound Obstet Gynecol 2015;45:530-8.
Sensitivity and specificity of NIPT
Sensitivity and specificity
21, 18 and 13 trisomy
N=2028 Contain mosaics
| Sensitivity Two-sided 95% confidence interval | Specificity Two-sided 95% confidence interval | |
|---|---|---|
| 21 trisomy | > 99.9% (130/130) (97.1%, 100%) | 99.90% (1982/1984) (99.63%, 99.97%) |
| 18 trisomy | > 99.9% (41/41) (91.4%, 100%) | 99.90% (1995/1997) (99.64%, 99.97%) |
| 13 trisomy | > 99.9% (26/26) (87.1%, 100%) | 99.90% (2000/2002) (99.64%, 99.97%) |
Estimated sensitivity specificity in the case of twins
21 trisomy, 18 trisomy, 13 trisomy, presence of Y
| Sensitivity Two-sided 95% confidence interval | Specificity Two-sided 95% confidence interval | |
|---|---|---|
| 21 trisomy | 96.40% (86.4%, 98.9%) | 99.90% (99.8%, > 99.9%) |
| 18 trisomy | 95.70% (68.3%, 99.4%) | > 99.9% (99.9%, > 99.9%) |
| 13 trisomy | 93.60% (64.1%, 98.9%) | > 99.9% (99.9%, > 99.9%) |
| Presence of Y | > 99.9% (99.9%, > 99.9%) | > 99.9% (99.7%, > 99.9%) |
Chromosome aneuploidy and foetal gender concordance
| Gender classification | Body view | Genetic testing | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Results | Girl | Boy | XX | XY | XO | XXX | XXY | XYY | Other abnormalities | Unknown | |
| Negative | XX | 997 | 0 | 21 | 0 | 2 | 0 | 0 | 0 | 0 | 0 |
| Negative | XY | 0 | 966 | 0 | 15 | 0 | 0 | 0 | 0 | 0 | 1 |
| Positive | XO | 0 | 0 | 0 | 0 | 19 | 0 | 0 | 1 | 0 | 0 |
| Positive | XXX | 0 | 0 | 0 | 0 | 0 | 17 | 0 | 0 | 1 | 0 |
| Positive | XXY | 0 | 0 | 0 | 0 | 0 | 0 | 23 | 0 | 1 | 0 |
| Positive | XYY | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 11 | 0 | 0 |
| Total | 997 | 966 | 21 | 15 | 21 | 17 | 23 | 12 | 2 | 1 | |
Sensitivity and specificity of Veriseq NIPT solution V2 for detecting any abnormality (including mosaicism）
| Sensitivity | Specificity | |
|---|---|---|
| Estimate %(n/N) | 95.5% (318/333) | 99.34% (1954/1967) |
| Two-sided 95% confidence interval | 92.7%, 97.3% | 98.87%, 99.61% |
Sensitivity specificity of all autosomal chromosomes (including mosaicism)
| Sensitivity | Specificity | |
|---|---|---|
| Estimate %(n/N) | 96.4% (27/28) | 99.80% (2001/2005) |
| Two-sided 95% confidence interval | 82.3%, 99.4% | 99.49%, 99.92% |
Whole autosomal whole region partial deletions and duplications (including mosaicism)
| Sensitivity | Specificity | |
|---|---|---|
| Estimate %(n/N) | 74.1% (20/27) | 99.80% (2001/2004) |
| Two-sided 95% confidence interval | 55.3%, 86.8% | 99.49%, 99.92% |
Negative neutrality
Negative predictive value with a sensitivity of 99.9% and specificity of 99.9%
| Inspection ages | Case | Frequency | Positive Neutral Rate | Negative neutrality |
|---|---|---|---|---|
| 49 years old | No. 21 trisomy | 8% (1/13 people) |
98.862% | 99.991% |
| 40 years old | No. 21 trisomy | 1% (1/100 people) |
90.983% | 99.9989% |
| 28 years old | No. 21 trisomy | 0.1% (1/1,000 people) |
50% | 99.9999% |
| No. 21 trisomy | 0.01% (1/10,000 people) |
9.083% | 99.99999% |
For those with a low positive predictive value, a definitive amniotic fluid test is recommended, even if NIPT is positive.
