The Light Plan examines for abnormalities in chromosomes 21, 18, and 13, as well as sex chromosomes.
Chromosomes 21, 18, 13 will be tested for Patau Syndrome, Edwards Syndrome, and 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).
For single fetuses, a sex chromosome condition test※ is performed, and for twins, a test whether or not a Y chromosome is present.
※ Gender can also be identified.
21 18 13 XY XX XO XXY Others … Y
Recommended to:
Those who want to get tested for sex chromosome disorders but want to keep the cost as low as possible.
Diseases that can be detected by this test
| Chromosome | Disease/Disorder | Occurrence rate |
|---|---|---|
| 21 | Down syndrome | 1 in 1,000 |
| 18 | Edwards syndrome | 1 in 6,000 |
| 13 | Patau syndrome | 1 in 10,000 |
Chromosomes 21, 18, 13 will be tested for Patau Syndrome, Edwards Syndrome, and 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).
| 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 |
X-linked Recessive Inheritance Disorder
The following is a list of the major X-linked recessive inherited diseases.
Boys may develop the disease when they have a close relative with X-linked recessive inherited disease, while girls are often asymptomatic carriers.
Note that NIPT cannot determine the presence or absence of X-linked recessive inherited disease. However, it is possible to verify the possibility of developing X-linked recessive inherited disease 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 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 |
| Chromosome | Disease/Disorder | Occurrence rate |
|---|---|---|
| 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) |
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 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.
The 38% of all the pregnant women who took the Lght plan were detected to have chromosomal abnormalities not included in to the test coverage: Chromosome 21,18 &13 trisomy/monosomy and sex chromosome abnormality.
Below is a chart showing the range of diseases that can be reported under the Light 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 & Light Plan
Source: HUMEDIT Research
Consider a Full set plan that includes a very detailed examination.
The Light plan can examine one fetus (single fetus) or twins.
Blood extraction is done in the Philippines and sent to Japan for blood results and analysis.
