What does newborn disease screening include

At present, domestic newborn disease screening is mainly divided into two categories. The first category is a free mandatory screening item required by the state, covering three basic diseases: congenital hypothyroidism, phenylketonuria, and congenital hearing impairment. In most areas, congenital adrenal hyperplasia is also included. Disease and glucose-6-phosphate dehydrogenase deficiency (also commonly known as favismosis) are included in the free screening scope; the other category is optional expanded screening projects at your own expense, covering dozens of genetic metabolic diseases, deafness genes, congenital heart disease and other different directions, and parents can choose according to their needs.

I have been working in the neonatology department of a tertiary-level maternal and infant department for almost 7 years. I have seen too many new parents who were confused by the informed consent form for screening handed over by the nurse the day after giving birth. They either thought it was all unnecessary IQ tax, or they chose all the items regardless of the fact that they were afraid of missing half of the risk. In fact, these items that are free and must be checked are all selected by the domestic disease control department after decades of incidence data. The incidence rate is high and the intervention effect is excellent. Early detection and early treatment can completely avoid the consequences of severe disability. Last year, I treated a 6-month-old baby transferred from a county town. When the baby was born, the family thought it was too troublesome to collect heel blood, so they refused the free screening. They waited until the baby was six months old and could not look up or lift his head before he came to see a doctor. He was eventually diagnosed with congenital hypothyroidism. If thyroxine was supplemented within one month after birth, the baby's intelligence and physical development would be on par with normal people. However, the intervention was delayed until half a year old. The nerve damage caused was irreversible, and the whole family regretted it.

Nowadays, free screenings in various places can basically be completed before discharge. Three drops of heel blood plus a hearing otoacoustic emission test that takes less than 10 minutes will only cause the baby a little pain. There is no need to skip this step. As for whether the most discussed self-funded project is worth doing, in fact, it is quite controversial. Some parents think that the combined incidence of dozens of rare genetic metabolic diseases is only a few ten thousandths, and spending hundreds of dollars for a check-up is too cost-effective. Some parents feel that they would rather spend some money to buy peace of mind, because if there is a problem, they can intervene before the damage occurs. I generally won't force parents to choose. I will only remind parents that if there is a child who has died of unknown causes in the family, or there is a family history of hereditary metabolic diseases, it is best to add it. There was a parent whose first child died of unexplained acidosis when he was 2 years old. When the second child was born, he directly chose the extended screening with tandem mass spectrometry, and it was indeed found to be methylmalonic acidemia. Dietary intervention and drug treatment were started on the 5th day after birth. Now that the child is 4 years old, he is running around and playing like other children in kindergarten.

In addition, deafness genetic screening and congenital heart disease screening recommended by many institutions in recent years are also optional self-pay items. If there are deaf relatives in the family, or the baby has a heart murmur during auscultation at birth, there is definitely no harm in choosing it. If there are no high-risk factors, just choose according to your own financial situation, and there is no need to spend money randomly due to childcare anxiety. By the way, heel blood screening is required to be done 72 hours after birth and after adequate breastfeeding. Otherwise, false positives are likely to occur, and it will be troublesome for the child to have to re-examine at that time. New parents should not rush to rush the nurse to do it early.