Expanded Newborn Screening

Screening in General

• Q.　Are the any differences as compared with the publicly funded newborn screening?

  A.　Please note the following three differences:
  (1) As this is an optional screening program, a fee is required.
  (2) Separately from publicly funded newborn mass screening, expanded newborn screening requires a blood sample and completed application form.
  (3) Results are reported on a different schedule from the publicly funded screening.

• Q.　Does the screening program actually lead to the identification of affected patients?

  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.

• Q.　How is the screening performed?

  A.　In addition to publicly funded newborn mass screening, a very small amount of blood is taken from the baby’s heel. The amount of the blood sample is about the same as for newborn mass screening.

• Q.　Why are only boys tested for Fabry’s disease even though the condition occurs in girls as well?

  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.

• Q.　What are the detection methods used for the four conditions under consideration?

  A.　For lysosomal disorders, the functional strength of the relevant enzyme (enzyme activity) is measured using tandem qualitative analysis techniques.

• Q.　Is the screening only for newborns?

  A.　Not necessarily. However, most of the disorders being screened for can be treated most effectively from the early newborn stage. Accordingly, agreement for screening application should be obtained based on a full understanding of relative effectiveness when that stage has passed.

Application

• Q.　What is application procedure when the medical institution requests screening?

  A.　Upon submission of the previously delivered “Expanded Newborn Screening Application Form,” a contract and materials will be sent out. After formation of a contract between the medical institution and the Tokyo Health Service Association, the Association will be entrusted with screening.

Blood Sample Collection Method

• Q.　What size blood sample is required?

  A.　The sample should be applied to all four circles on the filter paper provided. In cases where it is anticipated that the amount of blood will be insufficient, please consult with the designated point of contact.

• Q.　Can expanded screening be requested using the filter paper for publicly funded screening?

  A.　As there are differences between publicly funded and self-funded screening, please be sure to use the filter paper specifically designated for expanded screening (see illustration).
  
  

• Q.　Is there a difference in the filter paper used for publicly funded and expanded screening?

  A.　The lettering for publicly funded screening is orange, and that for expanded screening is green (see illustration).
  
  

• Q.　Can blood sample collection for publicly funded screening and expanded screening be undertaken simultaneously?

  A.　As both are to be conducted at the same age of 4-6 days (counting the day of birth as day 0), please do collect the samples at the same time. Note that in explanations for parents (via website and pamphlet), this is stated differently so as to be easier to understand for the general public. It is stated not in days of age, but as “5-7 days from birth (i.e., counting the day of birth as day 1).

• Q.　What is the filter paper to be used for repeat testing?

  A.　 Filter paper specifically for expanded screening re-testing will be sent out. Please take a new blood sample and submit it to the Association.

• Q.　As in the case for publicly funded screening when baby’s weight is under 2000g, is a second blood sample (low-weight second sample) to be collected?

  A.　At present, unlike with publicly funded screening, no additional testing is performed. Even for babies weighing under 2000g, expanded screening is concluded if the initial sample is deemed normal.

Dispatch of the Screening Paper

• Q.　Is it strictly required to dispatch the filter paper within 24 hours of blood sample collection? This may be difficult on weekends and holidays.

  A.　This is recommended within 24 hours, but submissions after 24 hours will still be accepted. If dispatch cannot be done within 24 hours due to closure, etc., the filter paper should be stored under refrigeration after having been completely dried, and then returned to room temperature on the day of dispatch.

• Q.　What are the effects when the filter paper cannot be dispatched within 24 hours of obtaining the blood sample?

  A.　Because lysosomal disease testing is based on measurement of enzyme activity in the blood contained in the filter paper, the activity becomes weaker with the passage of time after sample is obtained, and this can lead to false positives.

• Q.　Can expanded screening filter paper and publicly funded filter paper be placed in the same envelope?

  A.　Please place and dispatch publicly funded and expanded screening filter paper separately in the respectively designated envelopes.

Screening results

• Q.　When will screening results be available?

  A.　Results will be returned to the medical institution marked on the application and blood sample filter paper about two weeks after receipt.

• Q.　Can you respond to questions or inquiries from parents?

  A.　The Tokyo Health Service Association is unable to respond to inquiries from parents. We request that the medical institution the collected the blood sample handle the presentation of results to parents as well as any inquiries, etc. regarding screening.

• Q.　In cases where a particular medical institution conducts screening in multiple departments, such as an obstetrics wing and a neonatal care unit, to which will results be returned?

  A.　 In such cases, results will be returned to the recorded “Name of Medical Institution (Point of Contact for Results Return)” as per the received application form and blood sample filter paper.

• Q.　How are positive results to be handled?

  A.　In cases marked “Positive = Designated for Detailed Testing,” the Association will make telephone contact with the medical institution that collected the blood sample, and will mail out a written report as quickly as possible. The medical institution should then contact the parents immediately, present the screening results, and recommend consultation with a specialist medical institution capable of performing detailed testing. The Association can provide information on medical institutions capable of diagnosis with respect to the disorder(s) identified. In the case of “Repeat Testing,” results will be mailed in about two weeks to the medical institution that collected the blood sample (no telephone contact will be made). Regardless of the situation, the Association will never contact parents in any form including by telephone, in writing, via email, etc.