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Tests for congenital metabolic disorders, etc.
Last Updated October 1, 2024
About expanded neonatal mass screening test
In Yokohama City, we participated in a national demonstration project, and from October 1, 2024, expanded newborn mass screening tests will be conducted at public expense for two diseases, severe complex immunodeficiency (SCID) and spinal muscular atrophy (SMA).
Diseases to be tested
・Severe compound immunodeficiency (SCID):
It is a life-threatening disease in which immune cells do not work well and the resistance to infection decreases. In addition, live vaccination is contraindicated, and it may not be possible to identify it in an interview up to two months after birth at the time of vaccination.
・Spinal muscular atrophy (SMA):
It is a progressive disease in which the muscles of the whole body are reduced due to genes.
With regard to these two diseases, advances in treatment technology and the development of therapeutic drugs have progressed in recent years, and early detection and early treatment are expected to prevent symptom improvement and seriousness.
Inspection target
Baby on the 5th to 8th day after birth
(Applicable from the blood collection on October 1, 2024.)
Inspection fee
Test fee is free (public expense burden) (blood collection fee and postage will be borne by yourself)
※It is necessary to agree to the consent form for participation in the demonstration project given by the medical institution.
About examination at homecoming birth
It is treated in the same way as conventional tests for 20 diseases. Please check here for details.
Reporting information on newborn mass screening tests to the Tajima Group for Children's Home Science Research and Protection of Personal Information
In order to verify the effectiveness of neonatal mass screening tests for SCID and SMA, children who have been tested will be given due consideration to the protection of personal information for newborn mass screening tests, the number of positive persons, and the results of detailed examinations ( Disease name and number of patients) are reported to the research groups of the Children's Home Agency and Children's Home Agency.
The information obtained in this demonstration project will not be used for any other purpose. In addition, when the results of research are published, they will be statistically processed and will not be published in a way that identifies individuals.
Notes
・Newborn mass screening tests do not find all severe complex immunodeficiency or spinal muscular atrophy.
・In addition to severe complex immunodeficiency and spinal muscular atrophy, diseases that cause immunodeficiency may be found.
・This test is a screening test. Even if a detailed examination is deemed necessary, the results of a detailed examination may be diagnosed as "no illness."
・Applicable from the blood collection on October 1, 2024. Please ask a medical institution about the implementation.
・In order to carry out the demonstration project integrally with the conventional 20 diseases, those who have undergone a test (test for 20 diseases) such as congenital metabolic abnormalities at other prefectural medical institutions on their way home are not eligible.
What is a test for congenital metabolic disorders?
This is a test to detect diseases of congenital metabolic abnormalities. It is performed at hospitals that are hospitalized for childbirth, and blood is taken from the soles of the baby's feet to check it.
Babies with congenital metabolic disorders, etc., may look completely healthy at birth, but if left unchecked, may cause physical or intellectual disabilities, or may be at risk of life.
However, these diseases can be detected early, and if appropriate treatment is continued, the occurrence of disabilities can be prevented.
Overview of Inspection
Amino acid metabolism abnormal (5 diseases) | Phenylketonuria, maple syrup urine, homocyticinuria, Type 1 of cytroline blood disease, argininoko sucate urine disease |
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Organic acid metabolism (7 diseases) | Methylmaronic acidemia, propionic acidemia, isochizoic acidemia, Methylclothonylglycinuriasis, hydroxymethyl glutal acidemia, Complex carboxylase deficiency, glutalate type 1 |
Fatty acid metabolism abnormal (5 diseases) | Medium-chain asylCoA dehydrogenase (MCAD) deficiency |
Others (3 diseases) | Galactoseemia, congenital hypothyroidism (including centrality) Congenital adrenal hyperplasia |
Inspection target
Baby on the 5th to 8th day after birth
Inspection fee
The inspection fee is free (public expense). Blood collection fees, postage, etc. will be borne by you.
How to apply
Fill out the required items Application Form for Testing Congenital Metabolism, which is bound in the “Health Examination Ticket Spelling” in the Maternal and Child Health Handbook and submit it to a medical institution.
Implementation site
Medical institutions in Yokohama City
◎If you live in Yokohama City and are born at a medical institution in Kanagawa Prefecture
You can get the same inspection as Yokohama City.
◎When giving birth in another prefecture
If you live in Yokohama and give birth outside Yokohama, please contact the prefectural government or government-designated city that governs the Address area of the medical institution that can be tested.
◎When returning home and giving birth in Yokohama City
Even if you live outside Yokohama City and give birth at a medical institution in Yokohama City for homecoming births, etc., you can receive free tests and blood collection fees for a fee as well as Yokohama citizens. (Please pay the blood collection fee to each medical institution). You do not need to apply in advance.
Others
If there is no particular abnormality as a result of the test, the medical institution will inform you of the result at the medical examination for a one-month-old child.
Inquiries to this page
Child and Youth Bureau Children's Welfare and Health Department Regional Child Care Support Section
Telephone: 045-671-2455
Telephone: 045-671-2455
Fax: 045-550-3946
Email address: kd-chikoshien@city.yokohama.lg.jp
Page ID: 833-792-012