Essential Newborn Screening Tests for Taiwanese Infants Abroad - Pediatrics

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Dear Doctor, since I am currently in Thailand for childbirth, I would like to ask if there are any specific newborn screening tests that should be particularly noted due to my Taiwanese heritage, such as G6PD deficiency (favism).
I am Hakka, and my husband is Dutch.
What are the English names of the general newborn screening tests that are typically performed in Taiwan? Thank you for taking the time to answer; I greatly appreciate it.

KellyFish, 30~39 year old female. Ask Date: 2003/04/12

Dr. Zhao Yongkang reply Pediatrics


Hello Kelly Fish: The English names of the newborn screening items are as follows: 1.
Congenital hypothyroidism 2.
Galactosemia 3.
Phenylketonuria (PKU) 4.
Cystinuria 5.
Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency Thank you for your letter! Wishing you well, Dr.
Chao Yong-Kang, Director of Pediatrics, Hsinchu Hospital

Reply Date: 2003/04/12

More Info


When it comes to essential newborn screening tests for Taiwanese infants, especially for those born abroad, there are several key tests that are typically performed in Taiwan. These tests are crucial for identifying certain metabolic and genetic disorders early on, which can significantly impact the health and development of the infant if left untreated.

In Taiwan, the standard newborn screening panel includes the following tests:
1. Congenital Hypothyroidism - This condition occurs when the thyroid gland does not produce enough thyroid hormone, which is essential for growth and brain development.


2. Galactosemia - This is a genetic disorder that affects the body's ability to process galactose, a sugar found in milk and dairy products. If untreated, it can lead to serious complications.

3. Phenylketonuria (PKU) - PKU is a metabolic disorder caused by a deficiency in the enzyme needed to process phenylalanine, an amino acid found in many protein-containing foods. Early detection allows for dietary management to prevent intellectual disability.

4. Cystinuria - This is a genetic condition that leads to the formation of kidney stones due to the accumulation of certain amino acids in the urine.

5. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency - This is a common genetic disorder that can lead to hemolytic anemia, particularly in response to certain foods, infections, or medications.

In addition to these standard tests, there are also considerations for specific ethnic backgrounds. For instance, G6PD deficiency is more prevalent among individuals of Asian descent, including Taiwanese. Therefore, it is particularly important for newborns of Taiwanese heritage to be screened for this condition.

Regarding your concern about specific tests due to your Taiwanese heritage, it is worth noting that while the standard tests are crucial, some families may choose to pursue additional screenings based on family history or specific genetic concerns. For example, if there is a known family history of certain metabolic disorders, additional testing may be warranted.

In terms of timing, newborn screening in Taiwan is typically conducted within the first 48 hours after birth. For premature infants, like your baby born at 36 weeks, the timing may vary slightly depending on their health status and feeding. However, it is generally recommended that all newborns undergo screening before discharge from the hospital.

If you are currently in Thailand and your baby is born there, it is advisable to check with the local healthcare providers about the availability of these screening tests. Many countries have their own newborn screening programs, but they may not align perfectly with Taiwan's protocols. Therefore, it is essential to ensure that your baby receives the appropriate screenings based on both local guidelines and any specific concerns related to your family's background.

In summary, the essential newborn screening tests for Taiwanese infants include congenital hypothyroidism, galactosemia, PKU, cystinuria, and G6PD deficiency. Given your Taiwanese heritage, it is particularly important to ensure that your newborn is screened for G6PD deficiency. Always consult with healthcare providers to ensure that your baby receives the necessary screenings and follow-up care.

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