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Newborn screening for inherited metabolic diseases (2)

Updated: 2020-07-28


1. Our baby looks very healthy and no one in the family has suffered from these diseases, so is it unnecessary to have a newborn screening?

Because of the accumulation period of harmful substances, most children will not show special symptoms at birth, so it is easy for parents to ignore them. But once abnormal, the physical and intellectual impairment of the baby can be irreversible and the mortality and recurrence rate can also be high, which is one of the main causes of childhood death or disability.

Most of these diseases are autosomal-negative and even if parents do not have them, it is possible to have babies with inherited metabolic diseases.

2. Where do newborns receive newborn screening? How is screening done?

The hospital where the baby is born will arrange for newborn metabolic disease screening, usually collecting blood samples three days after the baby is born and has sufficiently breastfed eight times. For babies without blood collection for various reasons, screening should not be more than 20 days after birth at the latest.

A few drops of blood are taken from the heel of the newborn, placed on a special filter paper and sent to the neonatal disease screening center designated by the health administration department for testing and screening.

Screening methods include fluorescence, quantitative enzyme, bacterial inhibition and tandem mass spectrometry. Of these, tandem mass spectrometry has been used in many countries and regions as a routine means of neonatal disease screening, with the characteristics of high sensitivity, high specificity, high selectivity and rapid detection. Simultaneous screening for 50 genetic metabolic diseases can be performed in one procedure from only one blood sample.

3. What if the baby's screening results are abnormal?

If the baby has abnormal results during screening, the screening center will notify the hospital to contact the parents. When parents receive a notification, please do not panic. Please complete the review according to the doctor's instructions. If the results of the review are still abnormal, parents need to take the baby to the hospital for further diagnosis.

4. Do babies with abnormal screening results necessarily have diseases?

If the baby's screening results are negative, this means that the baby's risk of disease is very low. Babies with positive screening results will be recalled by the hospital for a review.

If notified, parents should cooperate by taking their baby to the hospital for a review as soon as possible. Because diet, other diseases and so on can also lead to temporary abnormalities in screening results, the results of the re-examination may turn negative.

If the re-screening results are still suspicious or positive, please follow the doctor's advice for further testing and confirmation of the diagnosis. Generally speaking, even if children are diagnosed with these diseases, as long as there is early detection, early diagnosis and early treatment, the treatment outcome can be good. Most babies can grow as healthy, normal babies.

5. If my baby's screening results are not abnormal, does it mean that baby has no inherited metabolic disease?

Any disease detection method has corresponding limitations. Because of a variety of possible reasons, there are still a very few children that cannot be detected. So it is critical to take your baby to maternity and child health care institutions regularly for routine child health examinations and follow-ups, to ensure their healthy growth.

Newborn screening for inherited metabolic diseases (1)