Please submit a letter of request to the medical institution where the baby was born and underwent screening.
A blood sample is taken 4-6 days after birth.
In addition to the ordinary newborn mass screening procedures, a small amount of blood is collected from the heel of the baby.
Testing takes place after the arrival of the sample, and approximately two weeks after the time of application, the results are returned to the medical institution where the baby was born.
The results are presented by the medical institution where the baby was born during a normal 1-month follow-up visit.
The results are presented at the medical institution where the baby was born.
The blood sampling and screening procedures are repeated to confirm the results.
The results are presented, along with a referral to a specialist medical institution for detailed testing.
The specialist medical institution conducts detailed testing to determine whether the disorder actually exists.
A. Screening serves to sift out “yes” and “no” results with respect to the likelihood of disease from a large population. Screening allows accurate detection of disease, but it is also possible for those without a disease to be mistakenly identified.
A. Such identification has taken place in areas of early adoption in Japan. In particular, over 10 cases of Fabry’s disease have been found from among a screening pool of some 10s of thousands.
A. Expanded newborn screening is only for those who request it. Blood sampling (screening) is conducted on about the 5th day after birth, so it is recommended to make a decision by that time.
A. In addition to publicly funded newborn mass screening, a very small amount of blood is taken from the baby’s heel.
A. Expanded newborn screening is a fee-based program. Please consult with the hospital or clinic where the birth took place regarding the cost of screening.
A. Upon receiving an explanation from the medical institution where the birth took place and agreeing to the screening content, a screening application should be submitted.
A. For girls who have Fabry’s disease, it is often the case that the enzyme activity is not depressed in same manner as for boys, and detection is considered difficult using the current filter paper type screening (the only diagnostic method is enzyme gene analysis). Accordingly, this test is used only for boys.
A. Results will be returned in about two weeks to the medical institution that collected the blood sample.
A. The results of expanded newborn screening (recommendations for “detailed testing”) do not necessarily mean that a disease is actually suspected. In order to obtain a more definitive diagnosis, consultation should be undertaken with a specialist medical institution in accordance with advice from the hospital or clinic where the birth took place.
A. The Tokyo Health Service Association is unable to respond to inquiries from parents. Please refer to the medical institution the collected the blood sample for any inquiries regarding the screening process and screening results.
