R：Recommended Plan
(¥242,000 including tax)
Hiro Clinic NIPT’s recommended plan is to examine all chromosomes plus chromosomes 1, 2, 3, 4, 5, 7, 8, 10, 15, 18, 20, 21, and 22 for partial deletions or duplications of all regions. Syndromes will be identified for the 12 known types. Deletion and duplication sites in other regions will also be included in the report.
This plan is recommended by Hiro Clinic NIPT, which has had over 17,000 people* tested. (*As of March 11, 2022)
※ Gender can also be identified.
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● Tests abnormalities in Chromosomes 1-22.
1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 -
● Tests Chromosomes 1,2,3,4,5,7,8,10,15,18,20,21,22 whole region for Partial deletion and Duplication disease abnormalities
Deletion Duplication 1 2 3 4 5 7 8 10 15 18 20 21 22 X (Excluding Y)
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● For single baby, you will be informed of the sex chromosome abnormalities and gender/sex of the baby.
XY XX XO XXY Others… -
● For twins, we will be informed whether or
not a Y chromosome is present.Y
This plan is recommended to:
Those who are wondering about NIPT but would like to have a thorough test.
Those who have experienced repeated miscarriages.
Those who have experienced stillbirths.
This NIPT test is recommended for those who have some kind of disability in their immediate family.
It is also recommended for those who want to take the opportunity to examine themselves in detail.
This plan is designed based on a study involving over 17,000 pregnant women in Japan to determine the most appropriate test content based on age limitations, target chromosomes, and focus on pregnant women in Japan.
Diseases that can be detected by this test
| Chromosome | Disease/Disorder | Occurrence rate |
|---|---|---|
| 21 | Down syndrome | 1 in 700 |
| 18 | Edwards syndrome | 1 in 6,000 |
| 13 | Patau syndrome | 1 in 10,000 |
| 1 | Trisomy/monosomy 1 | |
| 2 | Trisomy/monosomy 2 | |
| 3 | Trisomy/monosomy 3 | |
| 4 | Trisomy/monosomy 4 | |
| 5 | Trisomy/monosomy 5 | |
| 6 | Trisomy/monosomy 6 | |
| 7 | Trisomy/monosomy 7 | |
| 8 | Trisomy/monosomy 8 | |
| 9 | Trisomy/monosomy 9 | |
| 10 | Trisomy/monosomy 10 | |
| 11 | Trisomy/monosomy 11 | |
| 12 | Trisomy/monosomy 12 | |
| 14 | Trisomy/monosomy 14 | |
| 15 | Trisomy/monosomy 15 | |
| 16 | Trisomy/monosomy 16 | |
| 17 | Trisomy/monosomy 17 | |
| 19 | Trisomy/monosomy 19 | |
| 20 | Trisomy/monosomy 20 | |
| 22 | Trisomy/monosomy 22 |
| Chromosome | Disease/Disorder | Occurrence rate |
|---|---|---|
| X | Klinefelter’s syndrome | 1 in 1,000 |
| X | Turner’s syndrome | 1 in 2,500 |
| X | XXX syndrome | 1 in 1,000 |
| Y | XYY syndrome | 1 in 1,000 |
| Chromosome | Disease/Disorder | Occurrence rate |
|---|---|---|
| 1 | 1q21.1 microdeletion syndrome | |
| 1 | 1p36 deletion syndrome | 1 in 4,000 to 10,000 |
| 1 | 1q21.1 microduplication syndrome | |
| 2 | Nephronophthisis | |
| 2 | Holoprosencephaly | |
| 2 | Albright syndrome-like metacarpal/brachymetatarsia |
| Chromosome | Disease/Disorder | Occurrence rate |
|---|---|---|
| 3 | 3q29 microdeletion syndrome | |
| 4 | Wolf-Hirschhorn syndrome | 1 in 50,000 |
| 5 | Cornelia de Lange syndrome | 1 in 30,000 to 50,000 |
| 5 | Cri-du-chat syndrome | 1 in 20,000 to 50,000 |
| 5 | Sotos syndrome | 1 in 10,000 to 20,000 |
| 7 | Pallister-Hall syndrome | |
| 7 | Greig’s cerebral polydactyly |
| Chromosome | Disease/Disorder | Occurrence rate |
|---|---|---|
| 7 | Saethre-Chotzen syndrome | |
| 7 | Total anterior encephalocele type 3 |
|
| 7 | Charge syndrome | |
| 7 | Williams syndrome | |
| 8 | 8p23.1 microdeletion syndrome | |
| 8 | Tricho-rhino-phalangeal syndrome type I （TRPS type I) |
|
| 8 | Langer-Giedion syndrome | |
| 8 | 8p23.1 microduplication syndrome | |
| 10 | Chromosome 10q24 duplication syndrome |
| Chromosome | Disease/Disorder | Occurrence rate |
|---|---|---|
| 15 | Prader-Willi syndrome | 1 in 16,000 |
| 15 | Angelman syndrome | 1 in 15,000 |
| 15 | Hypergrowth and intellectual disability | |
| 20 | Alagille syndrome | |
| 22 | Phelan-McDiarmid Syndrome | |
| 22 | Di George Syndrome | |
| 22 | 22q11.2 deletion syndrome | 1 in 4,000 |
| 22 | 22q11.2 duplication syndrome | |
| 22 | cat eye syndrome | 1 in 50,000 |
X-linked Recessive Inherited Diseases
The following is a list of the major X-linked recessive inherited diseases/disorders.
Boys may develop the disease/disorder when they have a close relative with X-linked recessive inherited disease/disorder, while girls are often asymptomatic carriers.
Note that NIPT cannot determine the presence or absence of X-linked recessive inherited disease/disorder. However, it is possible to verify the possibility of developing X-linked recessive inherited disease/disorder in a relative by examining the sex of the child.
The following are typical X-linked recessive genetic disorders:
| Chromosome | Disease/Disorder | Occurrence rate |
|---|---|---|
| X | X-linked Agammaglobulinemia (XLA) | Boys 1 in 100,000 |
| X | Glucose-6-phosphate dehydrogenase deficiency | 1 in 1000 |
| X | X-linked hypophosphatemic rickets (XLH) | 1 in 20,000 |
| X | Red-green color blindness | 1 in 20-500 |
| X | Hemophilia | 1 in 4 boys with maternal carrier |
| Chromosome | Disease/Disorder | Occurrence rate |
|---|---|---|
| X | Duchenne muscular dystrophy | 60% for boys – 1 in 3,500 maternal carriers |
| X | X-linked ichthyosis | 1 in 2,000 to 6,000 |
| X | Kallmann’s syndrome | 1 in 10,000 |
| X, Y | Leri-Weill syndrome |
A quarter of those with positive results didn’t know they turned positive
2.45%( around 518 people) of the total number of patients in the Hiro Clinic NIPT had positive results. (*As of March 2020 – June 2021)
About 27.3% of them were not able to find out that they had tested positive for a disease other than the ones that are reported/tested by the plan they selected.
Positivity Report
Source: Hiro Clinic Research
Assuming 100% of those who were positive, whether or not the results are reported.
A total of 8.7% of all respondents who took the Recommended plan were found to have chromosomal abnormalities that were outside the coverage of Recommended Plan: ‘trisomy/monosomy of chromosomes 1-22’, ‘sex chromosome abnormality’ and ‘partial deletion or duplication of the whole region of chromosomes 1, 2, 3, 4, 5, 7, 8, 10, 15, 18, 20, 21, 22’.
Below is a graph showing the range of diseases that can be reported under the recommended plan, based on the percentage of all disease/disorder types in the population of those who were found to have a disease/disorder.
Difference in the Scope of Reporting Results between the Full Set Plan & the Recommended Plan
Source: Hiro Clinic Research
Consider a full-set plan that includes a detailed examination .
The recommended plan can examine one fetus (single fetus) or twins.
All clinic tests are performed domestically in Japan, and results are usually delivered within 2~5 days (usually within 3~6 days for some clinics and partner facilities) from the day of blood collection. Please note that express delivery option is available at all Hiro Clinic NIPT clinics (within 2~3 days after blood collection), except for partner facilities.
