G: Junior Plan
The Junior Plan examines chromosome numbers 13 (Patau Syndrome), 18 (Edwards Syndrome), and 21 (Down Syndrome) which are among the most frequent congenital diseases caused by changes in the number of autosomal chromosomes, which are 22 pairs of chromosomes (44 chromosomes) + partial deletions of all regions of chromosomes 1, 2, 3, 4, 5, 7, 8, 10, 15, 18, 20, 21, and 22. Syndromes will be identified for the three known types. Deletions and duplications in other regions will also be reported.
This plan is recommended by Hiro Clinic NIPT, which has tested over 17,000 people*. (*As of March 11, 2022)
※ Gender can also be identified.
● Tests abnormalities in Chromosomes 13,18 and 21.
● Tests chromosome 1, 2, 3, 4, 5, 7, 8, 10, 15, 18, 20, 21, 22 whole region for partial deletion and duplication disease abnormalities.
● For single baby, you will be informed of the sex chromosome abnormalities and gender/sex of the baby.
● For twins, we will be informed whether or
not a Y chromosome is present.
If you are curious about NIPT but would like to have a comprehensive test.
Those who have experienced repeated miscarriages.
Those who have experienced stillbirths.
This NIPT test is recommended for those who have a close relative with a disability/disorder of some kind.
It is also recommended for those who want to take this opportunity to examine 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
|21||Down syndrome||1 in 700|
|18||Edwards syndrome||1 in 6,000|
|13||Patau syndrome||1 in 10,000|
|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|
|1||1q21.1 microdeletion syndrome|
|1||1p36 deletion syndrome||1 in 4,000 to 10,000|
|1||1q21.1 microduplication syndrome|
|2||Albright syndrome-like metacarpal/brachymetatarsia|
|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||Greig’s cerebral polydactyly|
|7||Total anterior encephalocele type 3|
|8||8p23.1 microdeletion syndrome|
|8||Tricho-rhino-phalangeal syndrome type I（TRPS type I)|
|8||8p23.1 microduplication syndrome|
|10||Chro. 10q24 Duplication Syndrome|
|15||Prader-Willi syndrome||1 in 16,000|
|15||Angelman syndrome||1 in 15,000|
|15||Hypergrowth and intellectual disability|
|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:
|X||X-linked agammaglobulinemia (XLA)||Boys 1 in 100,000|
|X||Glucose-6-phosphate dehydrogenase deficiency||1 in 1,000|
|X||X-linked hypophosphatemic rickets (XLH)||1 in 20,000|
|X||red-green colorblindness||1 in 20 to 500|
|X||Hemophilia||1 in 4 boys with maternal retention|
|X||Duchenne muscular dystrophy (DMD)||60% for boys 1 in 3,500 maternal retention|
|X||X-linked ichthyosis||1 in 2,000 to 6,000|
|X||Kallmann syndrome||1 in 10,000|
|X, Y||Leri-Weill dyschondrosteosis (LWD)|
We recommend that you consider a full-set plan that provides detailed examination to ensure your baby’s safety.
The Junior plan is for the examination of one fetus (single fetus) or twins.
All clinic tests are performed in Japan, and results are usually delivered within 2~5 days (usually within 3~6 days for some clinics and partner clinics) from the time of blood collection. Please note that an express delivery option is available at all Hiro Clinic NIPT clinics (delivery within 2~3 days of blood collection), except for partner clinics.