F：Full Set Plan
The Full Set Plan examines the total number of chromosomes and all autosomal whole region partial deletions and duplications of disease. We will identify syndromes for 49 known types.
Deletion and duplication sites in other regions will also be reported.
This is the world’s plan with full scope of testing.
※Gender can also be identified.
-
● 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 all autosomal whole region partial deletions and duplication disease abnormalities.
Deletion Del. Duplication Dupl. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 -
● For single baby, the expectant mother will be informed of the sex chromosome abnormalities and gender/sex of the baby.
XY XX XO XXY Others… -
● For twins, the expectant mother will be informed whether or not a Y chromosome is present.
Y
Recommended for:
- Those who want to find out everything that they can at this point in time.
- Those who have had repeated miscarriages.
- Those who have experienced stillbirth.
- Those who have a close relative with some kind of disability.
- Also recommended for those who want to take this opportunity to examine in detail.
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 |
| Chromosome | Disease/Disorder | Occurrence rate |
|---|---|---|
| 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 | |
| 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 | |
| 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 | |
| 11 | Potocki-Shaffer syndrome | |
| 11 | WAGR syndrome | |
| 12 | Noonan syndrome | |
| 13 | Retinoblastoma, Developmental delay | |
| 13 | Total Anterior Encephalocele Type 5 |
| 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 | |
| 16 | 16p11.2 microdeletion | |
| 16 | 16p13.1 microdeletion | |
| 16 | Rubinstein-Taybi Syndrome | 1 in 125,000 |
| 16 | Tuberous Sclerosis Type 2 | |
| 16 | 16p11.2 microduplication | |
| 16 | 16p13.1 microduplication | |
| 16 | Rubinstein-Taybi Syndrome | |
| 17 | Miller-Dieker Syndrome | |
| 17 | Smith-Magenis syndrome (SMS) | 1 in 15,000 to 25,000 |
| 17 | Neuroblastoma type 1 | |
| 17 | Potocki-Lupski syndrome | |
| 17 | Charcot-Marie-Tooth syndrome (CMT) | |
| 17 | 17q21.31 microduplication syndrome | |
| 20 | Alagille syndrome | |
| 22 | Phelan-McDermid Syndrome | |
| 22 | DiGeorge Syndrome | |
| 22 | 22q11.2 deletion syndrome | 1 in 4,000 |
| 22 | 22q11.2 duplication syndrome | |
| 22 | Cat-eye syndrome (CES) | 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 | 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 |
| Chromosome | Disease/Disorder | Occurrence rate |
|---|---|---|
| X | X-linked ichthyosis | 1 in 2,000 to 6,000 |
| X | X-linked agammaglobulinemia | Boys 1 in 100,000 |
| X | Kallmann syndrome | 1 in 10,000 |
| X, Y | Leri-Weill dyschondrosteosis (LWD) |
A quarter of those with positive results didn’t know they turned positive
Around 518 people or 2.45% of the total number of patients in the HUMEDIT 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: HUMEDIT Research
Assuming 100% of those who were positive, whether or not the results are reported.
Below is a chart showing the range of diseases that can be reported under the Full Set Plan based on the percentage of overall disease types for those who are found to have a disease/disorder.
Scope of report on results of Full Set Plan
Source: HUMEDIT Research
We recommend that you consider a full-set plan that provides detailed examination to ensure your baby’s safety.
The Full-Set Plan is for the examination of one fetus (single fetus) or twins. The specimens will be sent from the Philippines to Japan. Results will be within given ten (10) days from the time of blood extraction.
